dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs1870377
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr4:55106807 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- T>A
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.188114 (49792/264690, TOPMED)A=0.222728 (55838/250700, GnomAD_exome)A=0.200775 (28141/140162, GnomAD) (+ 24 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- KDR : Missense Variant
- Publications
- 77 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|
Total | Global | 118272 | T=0.760442 | A=0.239558 |
European | Sub | 100374 | T=0.760316 | A=0.239684 |
African | Sub | 4404 | T=0.8819 | A=0.1181 |
African Others | Sub | 174 | T=0.874 | A=0.126 |
African American | Sub | 4230 | T=0.8823 | A=0.1177 |
Asian | Sub | 3330 | T=0.5270 | A=0.4730 |
East Asian | Sub | 2674 | T=0.5527 | A=0.4473 |
Other Asian | Sub | 656 | T=0.422 | A=0.578 |
Latin American 1 | Sub | 792 | T=0.854 | A=0.146 |
Latin American 2 | Sub | 962 | T=0.864 | A=0.136 |
South Asian | Sub | 274 | T=0.828 | A=0.172 |
Other | Sub | 8136 | T=0.7682 | A=0.2318 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
DownloadStudy | Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|---|
TopMed | Global | Study-wide | 264690 | T=0.811886 | A=0.188114 |
gnomAD - Exomes | Global | Study-wide | 250700 | T=0.777272 | A=0.222728 |
gnomAD - Exomes | European | Sub | 134858 | T=0.751413 | A=0.248587 |
gnomAD - Exomes | Asian | Sub | 48992 | T=0.71777 | A=0.28223 |
gnomAD - Exomes | American | Sub | 34550 | T=0.89795 | A=0.10205 |
gnomAD - Exomes | African | Sub | 16128 | T=0.89676 | A=0.10324 |
gnomAD - Exomes | Ashkenazi Jewish | Sub | 10062 | T=0.80302 | A=0.19698 |
gnomAD - Exomes | Other | Sub | 6110 | T=0.7849 | A=0.2151 |
gnomAD - Genomes | Global | Study-wide | 140162 | T=0.799225 | A=0.200775 |
gnomAD - Genomes | European | Sub | 75860 | T=0.74978 | A=0.25022 |
gnomAD - Genomes | African | Sub | 42048 | T=0.89319 | A=0.10681 |
gnomAD - Genomes | American | Sub | 13650 | T=0.84952 | A=0.15048 |
gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | T=0.7987 | A=0.2013 |
gnomAD - Genomes | East Asian | Sub | 3128 | T=0.5173 | A=0.4827 |
gnomAD - Genomes | Other | Sub | 2152 | T=0.7979 | A=0.2021 |
ExAC | Global | Study-wide | 121046 | T=0.780174 | A=0.219826 |
ExAC | Europe | Sub | 73268 | T=0.76194 | A=0.23806 |
ExAC | Asian | Sub | 25146 | T=0.72966 | A=0.27034 |
ExAC | American | Sub | 11516 | T=0.90648 | A=0.09352 |
ExAC | African | Sub | 10210 | T=0.89393 | A=0.10607 |
ExAC | Other | Sub | 906 | T=0.769 | A=0.231 |
Allele Frequency Aggregator | Total | Global | 118272 | T=0.760442 | A=0.239558 |
Allele Frequency Aggregator | European | Sub | 100374 | T=0.760316 | A=0.239684 |
Allele Frequency Aggregator | Other | Sub | 8136 | T=0.7682 | A=0.2318 |
Allele Frequency Aggregator | African | Sub | 4404 | T=0.8819 | A=0.1181 |
Allele Frequency Aggregator | Asian | Sub | 3330 | T=0.5270 | A=0.4730 |
Allele Frequency Aggregator | Latin American 2 | Sub | 962 | T=0.864 | A=0.136 |
Allele Frequency Aggregator | Latin American 1 | Sub | 792 | T=0.854 | A=0.146 |
Allele Frequency Aggregator | South Asian | Sub | 274 | T=0.828 | A=0.172 |
The PAGE Study | Global | Study-wide | 78696 | T=0.82787 | A=0.17213 |
The PAGE Study | AfricanAmerican | Sub | 32516 | T=0.88778 | A=0.11222 |
The PAGE Study | Mexican | Sub | 10808 | T=0.88527 | A=0.11473 |
The PAGE Study | Asian | Sub | 8318 | T=0.5992 | A=0.4008 |
The PAGE Study | PuertoRican | Sub | 7916 | T=0.8618 | A=0.1382 |
The PAGE Study | NativeHawaiian | Sub | 4534 | T=0.5829 | A=0.4171 |
The PAGE Study | Cuban | Sub | 4230 | T=0.8005 | A=0.1995 |
The PAGE Study | Dominican | Sub | 3826 | T=0.8636 | A=0.1364 |
The PAGE Study | CentralAmerican | Sub | 2450 | T=0.8694 | A=0.1306 |
The PAGE Study | SouthAmerican | Sub | 1982 | T=0.8769 | A=0.1231 |
The PAGE Study | NativeAmerican | Sub | 1260 | T=0.8008 | A=0.1992 |
The PAGE Study | SouthAsian | Sub | 856 | T=0.817 | A=0.183 |
14KJPN | JAPANESE | Study-wide | 28258 | T=0.59307 | A=0.40693 |
8.3KJPN | JAPANESE | Study-wide | 16760 | T=0.59743 | A=0.40257 |
GO Exome Sequencing Project | Global | Study-wide | 13006 | T=0.80609 | A=0.19391 |
GO Exome Sequencing Project | European American | Sub | 8600 | T=0.7631 | A=0.2369 |
GO Exome Sequencing Project | African American | Sub | 4406 | T=0.8899 | A=0.1101 |
1000Genomes_30x | Global | Study-wide | 6404 | T=0.7903 | A=0.2097 |
1000Genomes_30x | African | Sub | 1786 | T=0.9082 | A=0.0918 |
1000Genomes_30x | Europe | Sub | 1266 | T=0.7551 | A=0.2449 |
1000Genomes_30x | South Asian | Sub | 1202 | T=0.8511 | A=0.1489 |
1000Genomes_30x | East Asian | Sub | 1170 | T=0.5231 | A=0.4769 |
1000Genomes_30x | American | Sub | 980 | T=0.865 | A=0.135 |
1000Genomes | Global | Study-wide | 5008 | T=0.7881 | A=0.2119 |
1000Genomes | African | Sub | 1322 | T=0.9100 | A=0.0900 |
1000Genomes | East Asian | Sub | 1008 | T=0.5347 | A=0.4653 |
1000Genomes | Europe | Sub | 1006 | T=0.7654 | A=0.2346 |
1000Genomes | South Asian | Sub | 978 | T=0.851 | A=0.149 |
1000Genomes | American | Sub | 694 | T=0.869 | A=0.131 |
Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | T=0.7107 | A=0.2893 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.7584 | A=0.2416 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.7632 | A=0.2368 |
KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | T=0.5655 | A=0.4345 |
Korean Genome Project | KOREAN | Study-wide | 1832 | T=0.5600 | A=0.4400 |
Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | T=0.752 | A=0.248 |
A Vietnamese Genetic Variation Database | Global | Study-wide | 614 | T=0.432 | A=0.568 |
Northern Sweden | ACPOP | Study-wide | 600 | T=0.813 | A=0.187 |
Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | T=0.781 | A=0.219 |
HapMap | Global | Study-wide | 328 | T=0.768 | A=0.232 |
HapMap | African | Sub | 120 | T=0.883 | A=0.117 |
HapMap | American | Sub | 120 | T=0.725 | A=0.275 |
HapMap | Asian | Sub | 88 | T=0.67 | A=0.33 |
FINRISK | Finnish from FINRISK project | Study-wide | 304 | T=0.747 | A=0.253 |
SGDP_PRJ | Global | Study-wide | 218 | T=0.408 | A=0.592 |
Qatari | Global | Study-wide | 216 | T=0.866 | A=0.134 |
The Danish reference pan genome | Danish | Study-wide | 40 | T=0.72 | A=0.28 |
Siberian | Global | Study-wide | 18 | T=0.50 | A=0.50 |
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Sequence name | Change |
---|---|
GRCh38.p14 chr 4 | NC_000004.12:g.55106807T>A |
GRCh37.p13 chr 4 | NC_000004.11:g.55972974T>A |
KDR RefSeqGene (LRG_1198) | NG_012004.1:g.23789A>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
KDR transcript | NM_002253.4:c.1416A>T | Q [CAA] > H [CAT] | Coding Sequence Variant |
vascular endothelial growth factor receptor 2 precursor | NP_002244.1:p.Gln472His | Q (Gln) > H (His) | Missense Variant |
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
ClinVar Accession | Disease Names | Clinical Significance |
---|---|---|
RCV000121293.1 | not specified | Not-Provided |
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
Placement | T= | A |
---|---|---|
GRCh38.p14 chr 4 | NC_000004.12:g.55106807= | NC_000004.12:g.55106807T>A |
GRCh37.p13 chr 4 | NC_000004.11:g.55972974= | NC_000004.11:g.55972974T>A |
KDR RefSeqGene (LRG_1198) | NG_012004.1:g.23789= | NG_012004.1:g.23789A>T |
KDR transcript | NM_002253.4:c.1416= | NM_002253.4:c.1416A>T |
KDR transcript | NM_002253.3:c.1416= | NM_002253.3:c.1416A>T |
KDR transcript | NM_002253.2:c.1416= | NM_002253.2:c.1416A>T |
vascular endothelial growth factor receptor 2 precursor | NP_002244.1:p.Gln472= | NP_002244.1:p.Gln472His |
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
No | Submitter | Submission ID | Date (Build) |
---|---|---|---|
1 | TSC-CSHL | ss2746383 | Jan 12, 2001 (92) |
2 | YUSUKE | ss4474948 | Jul 03, 2002 (106) |
3 | PERLEGEN | ss23961304 | Sep 20, 2004 (123) |
4 | ABI | ss42238361 | Mar 13, 2006 (126) |
5 | APPLERA_GI | ss48426225 | Mar 13, 2006 (126) |
6 | CANCER-GENOME | ss48534046 | Mar 13, 2006 (126) |
7 | ILLUMINA | ss65725959 | Oct 14, 2006 (127) |
8 | SHGC | ss66539110 | Nov 30, 2006 (127) |
9 | PERLEGEN | ss68899166 | May 17, 2007 (127) |
10 | AFFY | ss74810229 | Aug 16, 2007 (128) |
11 | ILLUMINA | ss74911243 | Dec 06, 2007 (129) |
12 | SI_EXO | ss76892744 | Dec 06, 2007 (129) |
13 | HUMANGENOME_JCVI | ss98959993 | Feb 05, 2009 (130) |
14 | ENSEMBL | ss143600843 | Dec 01, 2009 (131) |
15 | SEATTLESEQ | ss159707632 | Dec 01, 2009 (131) |
16 | ILLUMINA | ss160469384 | Dec 01, 2009 (131) |
17 | COMPLETE_GENOMICS | ss162115237 | Jul 04, 2010 (132) |
18 | COMPLETE_GENOMICS | ss166583762 | Jul 04, 2010 (132) |
19 | ILLUMINA | ss172954529 | Jul 04, 2010 (132) |
20 | 1000GENOMES | ss220918904 | Jul 14, 2010 (132) |
21 | 1000GENOMES | ss232387702 | Jul 14, 2010 (132) |
22 | 1000GENOMES | ss239681911 | Jul 15, 2010 (132) |
23 | ILLUMINA | ss244285441 | Jul 04, 2010 (132) |
24 | GMI | ss277713570 | May 04, 2012 (137) |
25 | PJP | ss293070487 | May 09, 2011 (134) |
26 | NHLBI-ESP | ss342163594 | May 09, 2011 (134) |
27 | ILLUMINA | ss480320607 | May 04, 2012 (137) |
28 | ILLUMINA | ss480331954 | May 04, 2012 (137) |
29 | ILLUMINA | ss481093190 | Sep 08, 2015 (146) |
30 | ILLUMINA | ss484957977 | May 04, 2012 (137) |
31 | 1000GENOMES | ss490887626 | May 04, 2012 (137) |
32 | EXOME_CHIP | ss491355842 | May 04, 2012 (137) |
33 | CLINSEQ_SNP | ss491854328 | May 04, 2012 (137) |
34 | ILLUMINA | ss536999876 | Sep 08, 2015 (146) |
35 | TISHKOFF | ss557508927 | Apr 25, 2013 (138) |
36 | SSMP | ss651305067 | Apr 25, 2013 (138) |
37 | ILLUMINA | ss778718813 | Sep 08, 2015 (146) |
38 | ILLUMINA | ss780828857 | Sep 08, 2015 (146) |
39 | ILLUMINA | ss782925299 | Sep 08, 2015 (146) |
40 | ILLUMINA | ss783511715 | Sep 08, 2015 (146) |
41 | ILLUMINA | ss783888203 | Sep 08, 2015 (146) |
42 | ILLUMINA | ss832180554 | Sep 08, 2015 (146) |
43 | ILLUMINA | ss834178184 | Sep 08, 2015 (146) |
44 | JMKIDD_LAB | ss974452542 | Aug 21, 2014 (142) |
45 | EVA-GONL | ss980101211 | Aug 21, 2014 (142) |
46 | JMKIDD_LAB | ss1067461253 | Aug 21, 2014 (142) |
47 | JMKIDD_LAB | ss1071526983 | Aug 21, 2014 (142) |
48 | 1000GENOMES | ss1309692293 | Aug 21, 2014 (142) |
49 | DDI | ss1429878995 | Apr 01, 2015 (144) |
50 | CLINVAR | ss1457610079 | Nov 23, 2014 (142) |
51 | EVA_GENOME_DK | ss1580550296 | Apr 01, 2015 (144) |
52 | EVA_FINRISK | ss1584034300 | Apr 01, 2015 (144) |
53 | EVA_DECODE | ss1589599047 | Apr 01, 2015 (144) |
54 | EVA_UK10K_ALSPAC | ss1610064159 | Apr 01, 2015 (144) |
55 | EVA_UK10K_TWINSUK | ss1653058192 | Apr 01, 2015 (144) |
56 | EVA_EXAC | ss1687496267 | Apr 01, 2015 (144) |
57 | EVA_MGP | ss1711059845 | Apr 01, 2015 (144) |
58 | EVA_SVP | ss1712672467 | Apr 01, 2015 (144) |
59 | ILLUMINA | ss1752525578 | Sep 08, 2015 (146) |
60 | ILLUMINA | ss1752525579 | Sep 08, 2015 (146) |
61 | HAMMER_LAB | ss1801430664 | Sep 08, 2015 (146) |
62 | ILLUMINA | ss1917780596 | Feb 12, 2016 (147) |
63 | WEILL_CORNELL_DGM | ss1923340369 | Feb 12, 2016 (147) |
64 | ILLUMINA | ss1946116176 | Feb 12, 2016 (147) |
65 | ILLUMINA | ss1946116177 | Feb 12, 2016 (147) |
66 | ILLUMINA | ss1958683457 | Feb 12, 2016 (147) |
67 | ILLUMINA | ss1958683458 | Feb 12, 2016 (147) |
68 | GENOMED | ss1966658499 | Feb 12, 2016 (147) |
69 | JJLAB | ss2022253781 | Sep 14, 2016 (149) |
70 | USC_VALOUEV | ss2150378918 | Dec 20, 2016 (150) |
71 | HUMAN_LONGEVITY | ss2262861521 | Dec 20, 2016 (150) |
72 | SYSTEMSBIOZJU | ss2625626174 | Nov 08, 2017 (151) |
73 | ILLUMINA | ss2634118721 | Nov 08, 2017 (151) |
74 | ILLUMINA | ss2635132419 | Nov 08, 2017 (151) |
75 | GRF | ss2705844156 | Nov 08, 2017 (151) |
76 | ILLUMINA | ss2711005001 | Nov 08, 2017 (151) |
77 | GNOMAD | ss2734513947 | Nov 08, 2017 (151) |
78 | GNOMAD | ss2747239322 | Nov 08, 2017 (151) |
79 | GNOMAD | ss2809186157 | Nov 08, 2017 (151) |
80 | AFFY | ss2985292326 | Nov 08, 2017 (151) |
81 | SWEGEN | ss2994682570 | Nov 08, 2017 (151) |
82 | ILLUMINA | ss3022373408 | Nov 08, 2017 (151) |
83 | ILLUMINA | ss3022373409 | Nov 08, 2017 (151) |
84 | EVA_SAMSUNG_MC | ss3023060625 | Nov 08, 2017 (151) |
85 | BIOINF_KMB_FNS_UNIBA | ss3024898034 | Nov 08, 2017 (151) |
86 | CSHL | ss3345708546 | Nov 08, 2017 (151) |
87 | ILLUMINA | ss3625843615 | Oct 12, 2018 (152) |
88 | ILLUMINA | ss3628964188 | Oct 12, 2018 (152) |
89 | ILLUMINA | ss3628964189 | Oct 12, 2018 (152) |
90 | ILLUMINA | ss3632055460 | Oct 12, 2018 (152) |
91 | ILLUMINA | ss3634053715 | Oct 12, 2018 (152) |
92 | ILLUMINA | ss3634952085 | Oct 12, 2018 (152) |
93 | ILLUMINA | ss3634952086 | Oct 12, 2018 (152) |
94 | ILLUMINA | ss3635736652 | Oct 12, 2018 (152) |
95 | ILLUMINA | ss3636654988 | Oct 12, 2018 (152) |
96 | ILLUMINA | ss3637489166 | Oct 12, 2018 (152) |
97 | ILLUMINA | ss3638486410 | Oct 12, 2018 (152) |
98 | ILLUMINA | ss3640659381 | Oct 12, 2018 (152) |
99 | ILLUMINA | ss3640659382 | Oct 12, 2018 (152) |
100 | ILLUMINA | ss3643437809 | Oct 12, 2018 (152) |
101 | ILLUMINA | ss3644848947 | Oct 12, 2018 (152) |
102 | ILLUMINA | ss3644848948 | Oct 12, 2018 (152) |
103 | OMUKHERJEE_ADBS | ss3646307606 | Oct 12, 2018 (152) |
104 | URBANLAB | ss3647726575 | Oct 12, 2018 (152) |
105 | ILLUMINA | ss3652858057 | Oct 12, 2018 (152) |
106 | ILLUMINA | ss3652858058 | Oct 12, 2018 (152) |
107 | ILLUMINA | ss3654063275 | Oct 12, 2018 (152) |
108 | EGCUT_WGS | ss3662567892 | Jul 13, 2019 (153) |
109 | EVA_DECODE | ss3712030881 | Jul 13, 2019 (153) |
110 | ILLUMINA | ss3726133128 | Jul 13, 2019 (153) |
111 | ACPOP | ss3731137785 | Jul 13, 2019 (153) |
112 | ILLUMINA | ss3744234408 | Jul 13, 2019 (153) |
113 | ILLUMINA | ss3744524975 | Jul 13, 2019 (153) |
114 | ILLUMINA | ss3745252346 | Jul 13, 2019 (153) |
115 | ILLUMINA | ss3745252347 | Jul 13, 2019 (153) |
116 | EVA | ss3761784048 | Jul 13, 2019 (153) |
117 | PAGE_CC | ss3771124373 | Jul 13, 2019 (153) |
118 | ILLUMINA | ss3772747002 | Jul 13, 2019 (153) |
119 | ILLUMINA | ss3772747003 | Jul 13, 2019 (153) |
120 | PACBIO | ss3784710914 | Jul 13, 2019 (153) |
121 | PACBIO | ss3790169023 | Jul 13, 2019 (153) |
122 | PACBIO | ss3795044131 | Jul 13, 2019 (153) |
123 | KHV_HUMAN_GENOMES | ss3804919368 | Jul 13, 2019 (153) |
124 | EVA | ss3824016611 | Apr 26, 2020 (154) |
125 | EVA | ss3825521885 | Apr 26, 2020 (154) |
126 | EVA | ss3825538213 | Apr 26, 2020 (154) |
127 | EVA | ss3825657313 | Apr 26, 2020 (154) |
128 | EVA | ss3828532744 | Apr 26, 2020 (154) |
129 | EVA | ss3837703730 | Apr 26, 2020 (154) |
130 | EVA | ss3843139809 | Apr 26, 2020 (154) |
131 | SGDP_PRJ | ss3858923314 | Apr 26, 2020 (154) |
132 | KRGDB | ss3905160810 | Apr 26, 2020 (154) |
133 | KOGIC | ss3954167820 | Apr 26, 2020 (154) |
134 | FSA-LAB | ss3984283481 | Apr 26, 2021 (155) |
135 | FSA-LAB | ss3984283482 | Apr 26, 2021 (155) |
136 | EVA | ss3986027548 | Apr 26, 2021 (155) |
137 | EVA | ss3986280087 | Apr 26, 2021 (155) |
138 | EVA | ss4017145837 | Apr 26, 2021 (155) |
139 | TOPMED | ss4613509846 | Apr 26, 2021 (155) |
140 | TOMMO_GENOMICS | ss5165668617 | Apr 26, 2021 (155) |
141 | CPQ_GEN_INCA | ss5236854826 | Apr 26, 2021 (155) |
142 | CPQ_GEN_INCA | ss5236860084 | Apr 26, 2021 (155) |
143 | EVA | ss5237006393 | Apr 26, 2021 (155) |
144 | EVA | ss5237641983 | Oct 13, 2022 (156) |
145 | 1000G_HIGH_COVERAGE | ss5259162486 | Oct 13, 2022 (156) |
146 | TRAN_CS_UWATERLOO | ss5314410417 | Oct 13, 2022 (156) |
147 | EVA | ss5314957661 | Oct 13, 2022 (156) |
148 | EVA | ss5348941066 | Oct 13, 2022 (156) |
149 | HUGCELL_USP | ss5457927790 | Oct 13, 2022 (156) |
150 | EVA | ss5507507955 | Oct 13, 2022 (156) |
151 | 1000G_HIGH_COVERAGE | ss5540210549 | Oct 13, 2022 (156) |
152 | EVA | ss5623929361 | Oct 13, 2022 (156) |
153 | EVA | ss5624139171 | Oct 13, 2022 (156) |
154 | SANFORD_IMAGENETICS | ss5624555532 | Oct 13, 2022 (156) |
155 | SANFORD_IMAGENETICS | ss5635005622 | Oct 13, 2022 (156) |
156 | TOMMO_GENOMICS | ss5700000244 | Oct 13, 2022 (156) |
157 | EVA | ss5799615034 | Oct 13, 2022 (156) |
158 | EVA | ss5800115205 | Oct 13, 2022 (156) |
159 | YY_MCH | ss5805073216 | Oct 13, 2022 (156) |
160 | EVA | ss5843981594 | Oct 13, 2022 (156) |
161 | EVA | ss5848010306 | Oct 13, 2022 (156) |
162 | EVA | ss5848608644 | Oct 13, 2022 (156) |
163 | EVA | ss5854215893 | Oct 13, 2022 (156) |
164 | EVA | ss5863398461 | Oct 13, 2022 (156) |
165 | EVA | ss5935709467 | Oct 13, 2022 (156) |
166 | EVA | ss5936524745 | Oct 13, 2022 (156) |
167 | EVA | ss5963380008 | Oct 13, 2022 (156) |
168 | EVA | ss5979700062 | Oct 13, 2022 (156) |
169 | 1000Genomes | NC_000004.11 - 55972974 | Oct 12, 2018 (152) |
170 | 1000Genomes_30x | NC_000004.12 - 55106807 | Oct 13, 2022 (156) |
171 | The Avon Longitudinal Study of Parents and Children | NC_000004.11 - 55972974 | Oct 12, 2018 (152) |
172 | Genetic variation in the Estonian population | NC_000004.11 - 55972974 | Oct 12, 2018 (152) |
173 | ExAC | NC_000004.11 - 55972974 | Oct 12, 2018 (152) |
174 | FINRISK | NC_000004.11 - 55972974 | Apr 26, 2020 (154) |
175 | The Danish reference pan genome | NC_000004.11 - 55972974 | Apr 26, 2020 (154) |
176 | gnomAD - Genomes | NC_000004.12 - 55106807 | Apr 26, 2021 (155) |
177 | gnomAD - Exomes | NC_000004.11 - 55972974 | Jul 13, 2019 (153) |
178 | GO Exome Sequencing Project | NC_000004.11 - 55972974 | Oct 12, 2018 (152) |
179 | Genome of the Netherlands Release 5 | NC_000004.11 - 55972974 | Apr 26, 2020 (154) |
180 | HapMap | NC_000004.12 - 55106807 | Apr 26, 2020 (154) |
181 | KOREAN population from KRGDB | NC_000004.11 - 55972974 | Apr 26, 2020 (154) |
182 | Korean Genome Project | NC_000004.12 - 55106807 | Apr 26, 2020 (154) |
183 | Medical Genome Project healthy controls from Spanish population | NC_000004.11 - 55972974 | Apr 26, 2020 (154) |
184 | Northern Sweden | NC_000004.11 - 55972974 | Jul 13, 2019 (153) |
185 | The PAGE Study | NC_000004.12 - 55106807 | Jul 13, 2019 (153) |
186 | Qatari | NC_000004.11 - 55972974 | Apr 26, 2020 (154) |
187 | SGDP_PRJ | NC_000004.11 - 55972974 | Apr 26, 2020 (154) |
188 | Siberian | NC_000004.11 - 55972974 | Apr 26, 2020 (154) |
189 | 8.3KJPN | NC_000004.11 - 55972974 | Apr 26, 2021 (155) |
190 | 14KJPN | NC_000004.12 - 55106807 | Oct 13, 2022 (156) |
191 | TopMed | NC_000004.12 - 55106807 | Apr 26, 2021 (155) |
192 | UK 10K study - Twins | NC_000004.11 - 55972974 | Oct 12, 2018 (152) |
193 | A Vietnamese Genetic Variation Database | NC_000004.11 - 55972974 | Jul 13, 2019 (153) |
194 | ALFA | NC_000004.12 - 55106807 | Apr 26, 2021 (155) |
195 | ClinVar | RCV000121293.1 | Oct 12, 2018 (152) |
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
Associated ID | History Updated (Build) |
---|---|
rs52810770 | Sep 21, 2007 (128) |
Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
---|---|---|---|
ss160469384, ss162115237, ss166583762, ss244285441, ss277713570, ss293070487, ss480320607, ss491854328, ss1589599047, ss1712672467, ss2635132419, ss3643437809 | NC_000004.10:55667730:T:A | NC_000004.12:55106806:T:A | (self) |
21085783, 11735163, 8306140, 7460594, 30761, 6715235, 3617185, 474834, 5173720, 12338204, 175605, 4422650, 5382299, 10940294, 2895272, 23637924, 11735163, 2576822, ss220918904, ss232387702, ss239681911, ss342163594, ss480331954, ss481093190, ss484957977, ss490887626, ss491355842, ss536999876, ss557508927, ss651305067, ss778718813, ss780828857, ss782925299, ss783511715, ss783888203, ss832180554, ss834178184, ss974452542, ss980101211, ss1067461253, ss1071526983, ss1309692293, ss1429878995, ss1580550296, ss1584034300, ss1610064159, ss1653058192, ss1687496267, ss1711059845, ss1752525578, ss1752525579, ss1801430664, ss1917780596, ss1923340369, ss1946116176, ss1946116177, ss1958683457, ss1958683458, ss1966658499, ss2022253781, ss2150378918, ss2625626174, ss2634118721, ss2705844156, ss2711005001, ss2734513947, ss2747239322, ss2809186157, ss2985292326, ss2994682570, ss3022373408, ss3022373409, ss3023060625, ss3345708546, ss3625843615, ss3628964188, ss3628964189, ss3632055460, ss3634053715, ss3634952085, ss3634952086, ss3635736652, ss3636654988, ss3637489166, ss3638486410, ss3640659381, ss3640659382, ss3644848947, ss3644848948, ss3646307606, ss3652858057, ss3652858058, ss3654063275, ss3662567892, ss3731137785, ss3744234408, ss3744524975, ss3745252346, ss3745252347, ss3761784048, ss3772747002, ss3772747003, ss3784710914, ss3790169023, ss3795044131, ss3824016611, ss3825521885, ss3825538213, ss3825657313, ss3828532744, ss3837703730, ss3858923314, ss3905160810, ss3984283481, ss3984283482, ss3986027548, ss3986280087, ss4017145837, ss5165668617, ss5236854826, ss5236860084, ss5314957661, ss5348941066, ss5507507955, ss5623929361, ss5624139171, ss5624555532, ss5635005622, ss5799615034, ss5800115205, ss5843981594, ss5848010306, ss5848608644, ss5935709467, ss5936524745, ss5963380008, ss5979700062 | NC_000004.11:55972973:T:A | NC_000004.12:55106806:T:A | (self) |
RCV000121293.1, 27736484, 149460589, 2613686, 10545821, 345842, 33837348, 450887402, 431386327, ss1457610079, ss2262861521, ss3024898034, ss3647726575, ss3712030881, ss3726133128, ss3771124373, ss3804919368, ss3843139809, ss3954167820, ss4613509846, ss5237006393, ss5237641983, ss5259162486, ss5314410417, ss5457927790, ss5540210549, ss5700000244, ss5805073216, ss5854215893, ss5863398461 | NC_000004.12:55106806:T:A | NC_000004.12:55106806:T:A | (self) |
ss76892744 | NT_022853.14:3312856:T:A | NC_000004.12:55106806:T:A | (self) |
ss2746383, ss4474948, ss23961304, ss42238361, ss48426225, ss48534046, ss65725959, ss66539110, ss68899166, ss74810229, ss74911243, ss98959993, ss143600843, ss159707632, ss172954529 | NT_022853.15:3312856:T:A | NC_000004.12:55106806:T:A | (self) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
PMID | Title | Author | Year | Journal |
---|---|---|---|---|
18194558 | A hierarchical and modular approach to the discovery of robust associations in genome-wide association studies from pooled DNA samples. | Sebastiani P et al. | 2008 | BMC genetics |
19875757 | Clinical relevance of vascular endothelial growth factor (VEGFA) and VEGF receptor (VEGFR2) gene polymorphism on the treatment outcome following imatinib therapy. | Kim DH et al. | 2010 | Annals of oncology |
19924384 | Pharmacogenetics of telatinib, a VEGFR-2 and VEGFR-3 tyrosine kinase inhibitor, used in patients with solid tumors. | Steeghs N et al. | 2011 | Investigational new drugs |
20019880 | Polymorphisms in the VEGFA and VEGFR-2 genes and neovascular age-related macular degeneration. | Fang AM et al. | 2009 | Molecular vision |
20215856 | Genetic association of angiogenesis- and hypoxia-related gene polymorphisms with osteonecrosis of the femoral head. | Hong JM et al. | 2010 | Experimental & molecular medicine |
20389299 | Pazopanib-induced hyperbilirubinemia is associated with Gilbert's syndrome UGT1A1 polymorphism. | Xu CF et al. | 2010 | British journal of cancer |
21119072 | Genetic variation in VEGF family genes and breast cancer risk: a report from the Shanghai Breast Cancer Genetics Study. | Beeghly-Fadiel A et al. | 2011 | Cancer epidemiology, biomarkers & prevention |
21257617 | Association of polymorphisms/haplotypes of the genes encoding vascular endothelial growth factor and its KDR receptor with recurrent pregnancy loss. | Su MT et al. | 2011 | Human reproduction (Oxford, England) |
21407216 | Pharmacodynamic and pharmacogenetic angiogenesis-related markers of first-line FOLFOXIRI plus bevacizumab schedule in metastatic colorectal cancer. | Loupakis F et al. | 2011 | British journal of cancer |
21882181 | Association of VEGF and VEGFR2 single nucleotide polymorphisms with hypertension and clinical outcome in metastatic clear cell renal cell carcinoma patients treated with sunitinib. | Kim JJ et al. | 2012 | Cancer |
22015057 | Single nucleotide polymorphism associations with response and toxic effects in patients with advanced renal-cell carcinoma treated with first-line sunitinib: a multicentre, observational, prospective study. | Garcia-Donas J et al. | 2011 | The Lancet. Oncology |
22129133 | VEGFA and VEGFR2 genetic polymorphisms and survival in patients with diffuse large B cell lymphoma. | Kim MK et al. | 2012 | Cancer science |
22285963 | Sorafenib for patients with advanced angiosarcoma: a phase II Trial from the French Sarcoma Group (GSF/GETO). | Ray-Coquard I et al. | 2012 | The oncologist |
22439647 | The outcome and predictive factors of sunitinib therapy in advanced gastrointestinal stromal tumors (GIST) after imatinib failure - one institution study. | Rutkowski P et al. | 2012 | BMC cancer |
22808003 | Role of vascular endothelial growth factor (VEGF) and VEGF-R genotyping in guiding the metastatic process in pT4a resected gastric cancer patients. | Scartozzi M et al. | 2012 | PloS one |
22919317 | The rs2071559 AA VEGFR-2 genotype frequency is significantly lower in neovascular age-related macular degeneration patients. | Lazzeri S et al. | 2012 | TheScientificWorldJournal |
23111153 | Implication of VEGFR2 in systemic lupus erythematosus: a combined genetic and structural biological approach. | Vazgiourakis VM et al. | 2013 | Clinical and experimental rheumatology |
23146028 | PDGFRα/β and VEGFR2 polymorphisms in colorectal cancer: incidence and implications in clinical outcome. | Estevez-Garcia P et al. | 2012 | BMC cancer |
23205182 | A genome-wide association study of variations in maternal cardiometabolic genes and risk of placental abruption. | Moore A et al. | 2012 | International journal of molecular epidemiology and genetics |
23462807 | Single-nucleotide polymorphisms associated with outcome in metastatic renal cell carcinoma treated with sunitinib. | Beuselinck B et al. | 2013 | British journal of cancer |
23566851 | Association study between of Tie2/angiopoietin-2 and VEGF/KDR pathway gene polymorphisms and vascular malformations. | Zheng Q et al. | 2013 | Gene |
23613720 | Lymphatic and angiogenic candidate genes predict the development of secondary lymphedema following breast cancer surgery. | Miaskowski C et al. | 2013 | PloS one |
24728327 | Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. | Bodian DL et al. | 2014 | PloS one |
24851136 | Polymorphisms of VEGF and VEGF receptors are associated with the occurrence of ovarian hyperstimulation syndrome (OHSS)-a retrospective case-control study. | Nouri K et al. | 2014 | Journal of ovarian research |
24886133 | Kinase insert domain receptor/vascular endothelial growth factor receptor 2 (KDR) genetic variation is associated with ovarian hyperstimulation syndrome. | O'Brien TJ et al. | 2014 | Reproductive biology and endocrinology |
25123269 | Genetic variants in the KDR gene is associated with the prognosis of transarterial chemoembolization treated hepatocellular carcinoma. | Zheng YB et al. | 2014 | Tumour biology |
25182707 | The relationship of kinase insert domain receptor gene polymorphisms and clinical outcome in advanced hepatocellular carcinoma patients treated with sorafenib. | Zheng YB et al. | 2014 | Medical oncology (Northwood, London, England) |
25488616 | Clinical relevance of vascular endothelial growth factor type A (VEGFA) and VEGF receptor type 2 (VEGFR2) gene polymorphism in chronic lymphocytic leukemia. | Góra-Tybor J et al. | 2015 | Blood cells, molecules & diseases |
25589620 | Pharmacogenetic Analysis of INT 0144 Trial: Association of Polymorphisms with Survival and Toxicity in Rectal Cancer Patients Treated with 5-FU and Radiation. | Bohanes P et al. | 2015 | Clinical cancer research |
25738571 | Association of VEGFR-2 Gene Polymorphisms With Clopidogrel Resistance in Patients With Coronary Heart Disease. | Zhang LJ et al. | 2016 | American journal of therapeutics |
25959001 | Genetic association study of coronary collateral circulation in patients with coronary artery disease using 22 single nucleotide polymorphisms corresponding to 10 genes involved in postischemic neovascularization. | Duran J et al. | 2015 | BMC cardiovascular disorders |
26081139 | Genetic Variations of Kinase Inserts Domain Receptor (KDR) Gene Are Associated with the Risk of Astrocytomas. | Gao Y et al. | 2016 | Molecular neurobiology |
26093379 | Genetic Variants of VEGF (rs201963 and rs3025039) and KDR (rs7667298, rs2305948, and rs1870377) Are Associated with Glioma Risk in a Han Chinese Population: a Case-Control Study. | Zhang J et al. | 2016 | Molecular neurobiology |
26254278 | Impact of VEGF, VEGFR, PDGFR, HIF and ERCC1 gene polymorphisms on thymic malignancies outcome after thymectomy. | Berardi R et al. | 2015 | Oncotarget |
26726843 | Association of Genetic Polymorphisms on Vascular Endothelial Growth Factor and its Receptor Genes with Susceptibility to Coronary Heart Disease. | Li L et al. | 2016 | Medical science monitor |
26830973 | The influence of genetic variants of sorafenib on clinical outcomes and toxic effects in patients with advanced renal cell carcinoma. | Qin C et al. | 2016 | Scientific reports |
26887047 | Retrospective study testing next generation sequencing of selected cancer-associated genes in resected prostate cancer. | Lo Iacono M et al. | 2016 | Oncotarget |
26981634 | The Association between VEGFR Gene Polymorphisms and Stroke: A Meta-Analysis. | Qiu S et al. | 2016 | PloS one |
27117754 | Angiogenesis genotyping and clinical outcome during regorafenib treatment in metastatic colorectal cancer patients. | Giampieri R et al. | 2016 | Scientific reports |
27163696 | Role of HIF1A, VEGFA and VEGFR2 SNPs in the Susceptibility and Progression of COPD in a Spanish Population. | Baz-Dávila R et al. | 2016 | PloS one |
27175586 | Angiogenesis genotyping in the selection of first-line treatment with either sunitinib or pazopanib for advanced renal cell carcinoma. | Bianconi M et al. | 2016 | Oncotarget |
27175642 | Association of Genetic Polymorphisms on VEGFA and VEGFR2 With Risk of Coronary Heart Disease. | Liu D et al. | 2016 | Medicine |
27798356 | Lack of replication of associations between multiple genetic polymorphisms and endurance athlete status in Japanese population. | Yvert T et al. | 2016 | Physiological reports |
27932624 | Allele rs2010963 C of the VEGFA gene is associated with the decreased risk of primary varicose veins in ethnic Russians. | Shadrina AS et al. | 2018 | Phlebology |
28117391 | Functional PTGS2 polymorphism-based models as novel predictive markers in metastatic renal cell carcinoma patients receiving first-line sunitinib. | Cebrián A et al. | 2017 | Scientific reports |
28488026 | Carfilzomib and lenalidomide response related to VEGF and VEGFR2 germline polymorphisms. | Sissung TM et al. | 2017 | Cancer chemotherapy and pharmacology |
28502223 | Investigation of angiogenesis genes with anterior cruciate ligament rupture risk in a South African population. | Rahim M et al. | 2018 | Journal of sports sciences |
28866361 | Targeted next-generation sequencing of glandular odontogenic cyst: a preliminary study. | Siqueira EC et al. | 2017 | Oral surgery, oral medicine, oral pathology and oral radiology |
28978162 | Effects of VEGF and VEGFR polymorphisms on the outcome of patients with metastatic renal cell carcinoma treated with sunitinib: a systematic review and meta-analysis. | Miao C et al. | 2017 | Oncotarget |
29054076 | Genetic polymorphisms in angiogenesis-related genes are associated with worse progression-free survival of patients with advanced gastrointestinal stromal tumours treated with imatinib. | Verboom MC et al. | 2017 | European journal of cancer (Oxford, England |
29345962 | Role of selected polymorphisms in determining muscle fiber composition in Japanese men and women. | Kumagai H et al. | 2018 | Journal of applied physiology (Bethesda, Md. |
29366080 | ||||
29787601 | Impact of vascular endothelial growth factor (VEGF) and vascular endothelial growth factor receptor (VEGFR) single nucleotide polymorphisms on outcome in gastroenteropancreatic neuroendocrine neoplasms. | Berardi R et al. | 2018 | PloS one |
29984822 | Single-nucleotide polymorphisms of VEGF-A and VEGFR-2 genes and risk of infantile hemangioma. | Oszajca K et al. | 2018 | International journal of dermatology |
30111293 | Plasma levels of soluble VEGF receptor isoforms, circulating pterins and VEGF system SNPs as prognostic biomarkers in patients with acute coronary syndromes. | Marks ECA et al. | 2018 | BMC cardiovascular disorders |
30380970 | The VEGFR-2 protein and the VEGFR-2 rs1870377 A>T genetic polymorphism are prognostic factors for gastric cancer. | Zhu X et al. | 2019 | Cancer biology & therapy |
31121870 | Association of Stress, Mental Health, and VEGFR-2 Gene Polymorphisms with Cardiometabolic Risk in Chinese Malaysian Adults. | Yap RWK et al. | 2019 | Nutrients |
31339592 | A meta-analysis of the relationship between VEGFR2 polymorphisms and atherosclerotic cardiovascular diseases. | Wang L et al. | 2019 | Clinical cardiology |
31405022 | KDR (VEGFR2) Genetic Variants and Serum Levels in Patients with Rheumatoid Arthritis. | Paradowska-Gorycka A et al. | 2019 | Biomolecules |
31432097 | Impact of single nucleotide polymorphisms in the VEGFR2 gene on endothelial cell activation under non‑uniform shear stress. | Schacher NM et al. | 2019 | International journal of molecular medicine |
31611971 | NRP-1 and KDR polymorphisms are associated with survival time in patients with advanced gastric cancer. | Zhuo YJ et al. | 2019 | Oncology letters |
32074519 | Gene polymorphisms of VEGF and VEGFR2 are associated with the severity of Hashimoto's disease and the intractability of Graves' disease, respectively. | Okamoto M et al. | 2020 | Endocrine journal |
32107407 | Hyperprogression under Immune Checkpoint Inhibitor: a potential role for germinal immunogenetics. | Refae S et al. | 2020 | Scientific reports |
32326111 | Role of Genetic Variations in the Hepatic Handling of Drugs. | Marin JJG et al. | 2020 | International journal of molecular sciences |
32506171 | Missense Variants in Hypoxia-Induced VEGFA/VEGFR2 Signaling Predict the Outcome of Large Artery Atherosclerotic Stroke. | Li Z et al. | 2021 | Cellular and molecular neurobiology |
32526933 | Association of Genetic Variants in ANGPT/TEK and VEGF/VEGFR with Progression and Survival in Head and Neck Squamous Cell Carcinoma Treated with Radiotherapy or Radiochemotherapy. | Butkiewicz D et al. | 2020 | Cancers |
32550823 | Application of targeted next generation sequencing for the mutational profiling of patients with acute lymphoblastic leukemia. | Janic D et al. | 2020 | Journal of medical biochemistry |
32797194 | Genetic Variation and Hot Flashes: A Systematic Review. | Crandall CJ et al. | 2020 | The Journal of clinical endocrinology and metabolism |
32997825 | VEGFR2 and VEGFA polymorphisms are not associated with an inferior prognosis in Caucasian patients with aggressive B-cell lymphoma. | Kaddu-Mulindwa D et al. | 2021 | European journal of haematology |
33099473 | The KDR (VEGFR-2) Genetic Polymorphism Q472H and c-KIT Polymorphism M541L Are Associated With More Aggressive Behaviour in Astrocytic Gliomas. | Zaman N et al. | 2020 | Cancer genomics & proteomics |
33246355 | A bioinformatic approach to investigating cytokine genes and their receptor variants in relation to COVID-19 progression. | Karakas Celik S et al. | 2021 | International journal of immunogenetics |
33522443 | Risk modelling further implicates the angiogenesis pathway in anterior cruciate ligament ruptures. | Rahim M et al. | 2022 | European journal of sport science |
33665428 | Association of KDR rs1870377 genotype with clopidogrel resistance in patients with post percutaneous coronary intervention. | Al Awaida W et al. | 2021 | Heliyon |
34013078 | Host pharmacogenetic factors that may affect liver neoplasm incidence upon using direct-acting antivirals for treating hepatitis C infection. | Zidan AM et al. | 2021 | Heliyon |
35314692 | A pharmacogenetic interaction analysis of bevacizumab with paclitaxel in advanced breast cancer patients. | Coltelli L et al. | 2022 | NPJ breast cancer |
35428537 | Association of VEGF-A and KDR polymorphisms with the development of schizophrenia. | Saoud H et al. | 2022 | Human immunology |
35801418 | Mutational landscape of primary breast angiosarcoma with repeated resection and recurrence over a 15-year period: A case report. | Teruyama F et al. | 2022 | Pathology international |
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
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Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.