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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)
A=0.219826 (26609/121046, ExAC)
A=0.239558 (28333/118272, ALFA)
A=0.17213 (13546/78696, PAGE_STUDY)
A=0.40693 (11499/28258, 14KJPN)
A=0.40257 (6747/16760, 8.3KJPN)
A=0.19391 (2522/13006, GO-ESP)
A=0.2097 (1343/6404, 1000G_30x)
A=0.2119 (1061/5008, 1000G)
A=0.2893 (1296/4480, Estonian)
A=0.2416 (931/3854, ALSPAC)
A=0.2368 (878/3708, TWINSUK)
A=0.4345 (1273/2930, KOREAN)
A=0.4400 (806/1832, Korea1K)
A=0.248 (248/998, GoNL)
T=0.432 (265/614, Vietnamese)
A=0.187 (112/600, NorthernSweden)
A=0.219 (117/534, MGP)
A=0.232 (76/328, HapMap)
A=0.253 (77/304, FINRISK)
T=0.408 (89/218, SGDP_PRJ)
A=0.134 (29/216, Qatari)
A=0.28 (11/40, GENOME_DK)
T=0.50 (9/18, Siberian)
A=0.50 (9/18, Siberian)
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.

Release Version: 20230706150541
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


Help

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").

Download
Study 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
Help

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.

Genomic Placements
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
Gene: KDR, kinase insert domain receptor (minus strand)
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
Help

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.

Allele: A (allele ID: 138342 )
ClinVar Accession Disease Names Clinical Significance
RCV000121293.1 not specified Not-Provided
Help

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
Help

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#.

168 SubSNP, 26 Frequency, 1 ClinVar submissions
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)
Help

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)
Added to this RefSNP Cluster:
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)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

77 citations for rs1870377
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
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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

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Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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Software version is: 2.0.1.post761+d5e8e07