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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.

rs2271173

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr4:48170249 (GRCh38.p13) 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
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.366538 (110605/301756, ALFA)
A=0.383600 (101535/264690, TOPMED)
A=0.425135 (104896/246736, GnomAD_exome) (+ 22 more)
A=0.367973 (51492/139934, GnomAD)
A=0.422712 (50985/120614, ExAC)
A=0.45538 (35839/78702, PAGE_STUDY)
G=0.10513 (1762/16760, 8.3KJPN)
A=0.34111 (4429/12984, GO-ESP)
G=0.4792 (2400/5008, 1000G)
A=0.3797 (1701/4480, Estonian)
A=0.3399 (1310/3854, ALSPAC)
A=0.3479 (1290/3708, TWINSUK)
G=0.1075 (315/2930, KOREAN)
G=0.4697 (885/1884, HapMap)
G=0.0933 (171/1832, Korea1K)
A=0.308 (307/998, GoNL)
G=0.110 (87/790, PRJEB37584)
G=0.134 (82/614, Vietnamese)
A=0.335 (201/600, NorthernSweden)
A=0.326 (174/534, MGP)
G=0.275 (114/414, SGDP_PRJ)
A=0.382 (116/304, FINRISK)
A=0.287 (62/216, Qatari)
G=0.30 (15/50, Siberian)
A=0.28 (11/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TEC : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 4 NC_000004.12:g.48170249G>A
GRCh38.p13 chr 4 NC_000004.12:g.48170249G>C
GRCh37.p13 chr 4 NC_000004.11:g.48172266G>A
GRCh37.p13 chr 4 NC_000004.11:g.48172266G>C
Gene: TEC, tec protein tyrosine kinase (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TEC transcript NM_003215.3:c.453C>T S [AGC] > S [AGT] Coding Sequence Variant
tyrosine-protein kinase Tec NP_003206.2:p.Ser151= S (Ser) > S (Ser) Synonymous Variant
TEC transcript NM_003215.3:c.453C>G S [AGC] > R [AGG] Coding Sequence Variant
tyrosine-protein kinase Tec NP_003206.2:p.Ser151Arg S (Ser) > R (Arg) Missense Variant
TEC transcript variant X5 XM_011513741.1:c.453C>T S [AGC] > S [AGT] Coding Sequence Variant
tyrosine-protein kinase Tec isoform X3 XP_011512043.1:p.Ser151= S (Ser) > S (Ser) Synonymous Variant
TEC transcript variant X5 XM_011513741.1:c.453C>G S [AGC] > R [AGG] Coding Sequence Variant
tyrosine-protein kinase Tec isoform X3 XP_011512043.1:p.Ser151Arg S (Ser) > R (Arg) Missense Variant
TEC transcript variant X2 XM_011513737.2:c.345C>T S [AGC] > S [AGT] Coding Sequence Variant
tyrosine-protein kinase Tec isoform X2 XP_011512039.1:p.Ser115= S (Ser) > S (Ser) Synonymous Variant
TEC transcript variant X2 XM_011513737.2:c.345C>G S [AGC] > R [AGG] Coding Sequence Variant
tyrosine-protein kinase Tec isoform X2 XP_011512039.1:p.Ser115Arg S (Ser) > R (Arg) Missense Variant
TEC transcript variant X6 XM_017008569.1:c.105C>T S [AGC] > S [AGT] Coding Sequence Variant
tyrosine-protein kinase Tec isoform X4 XP_016864058.1:p.Ser35= S (Ser) > S (Ser) Synonymous Variant
TEC transcript variant X6 XM_017008569.1:c.105C>G S [AGC] > R [AGG] Coding Sequence Variant
tyrosine-protein kinase Tec isoform X4 XP_016864058.1:p.Ser35Arg S (Ser) > R (Arg) Missense Variant
TEC transcript variant X1 XM_024454193.1:c.453C>T S [AGC] > S [AGT] Coding Sequence Variant
tyrosine-protein kinase Tec isoform X1 XP_024309961.1:p.Ser151= S (Ser) > S (Ser) Synonymous Variant
TEC transcript variant X1 XM_024454193.1:c.453C>G S [AGC] > R [AGG] Coding Sequence Variant
tyrosine-protein kinase Tec isoform X1 XP_024309961.1:p.Ser151Arg S (Ser) > R (Arg) Missense Variant
TEC transcript variant X3 XR_001741318.1:n.498C>T N/A Non Coding Transcript Variant
TEC transcript variant X3 XR_001741318.1:n.498C>G N/A Non Coding Transcript Variant
TEC transcript variant X4 XR_925160.2:n.498C>T N/A Non Coding Transcript Variant
TEC transcript variant X4 XR_925160.2:n.498C>G N/A Non Coding Transcript Variant
TEC transcript variant X7 XR_001741319.1:n.611C>T N/A Non Coding Transcript Variant
TEC transcript variant X7 XR_001741319.1:n.611C>G N/A Non Coding Transcript 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.

Not Reported in ClinVar

ALFA Allele Frequency (New)
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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 301756 G=0.633462 A=0.366538, C=0.000000
European Sub 256320 G=0.653819 A=0.346181, C=0.000000
African Sub 8372 G=0.6718 A=0.3282, C=0.0000
African Others Sub 288 G=0.667 A=0.333, C=0.000
African American Sub 8084 G=0.6719 A=0.3281, C=0.0000
Asian Sub 6854 G=0.1107 A=0.8893, C=0.0000
East Asian Sub 4900 G=0.1037 A=0.8963, C=0.0000
Other Asian Sub 1954 G=0.1285 A=0.8715, C=0.0000
Latin American 1 Sub 1396 G=0.6562 A=0.3438, C=0.0000
Latin American 2 Sub 6652 G=0.5212 A=0.4788, C=0.0000
South Asian Sub 366 G=0.500 A=0.500, C=0.000
Other Sub 21796 G=0.57878 A=0.42122, C=0.00000


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 G=0.616400 A=0.383600
gnomAD - Exomes Global Study-wide 246736 G=0.574865 A=0.425135
gnomAD - Exomes European Sub 133682 G=0.650162 A=0.349838
gnomAD - Exomes Asian Sub 47408 G=0.34463 A=0.65537
gnomAD - Exomes American Sub 33616 G=0.51348 A=0.48652
gnomAD - Exomes African Sub 16062 G=0.66953 A=0.33047
gnomAD - Exomes Ashkenazi Jewish Sub 9958 G=0.7083 A=0.2917
gnomAD - Exomes Other Sub 6010 G=0.5855 A=0.4145
gnomAD - Genomes Global Study-wide 139934 G=0.632027 A=0.367973
gnomAD - Genomes European Sub 75800 G=0.64562 A=0.35438
gnomAD - Genomes African Sub 41918 G=0.66609 A=0.33391
gnomAD - Genomes American Sub 13622 G=0.56379 A=0.43621
gnomAD - Genomes Ashkenazi Jewish Sub 3318 G=0.7098 A=0.2902
gnomAD - Genomes East Asian Sub 3124 G=0.0954 A=0.9046
gnomAD - Genomes Other Sub 2152 G=0.5809 A=0.4191
ExAC Global Study-wide 120614 G=0.577288 A=0.422712
ExAC Europe Sub 72972 G=0.65141 A=0.34859
ExAC Asian Sub 25010 G=0.35818 A=0.64182
ExAC American Sub 11504 G=0.50409 A=0.49591
ExAC African Sub 10228 G=0.66689 A=0.33311
ExAC Other Sub 900 G=0.573 A=0.427
The PAGE Study Global Study-wide 78702 G=0.54462 A=0.45538
The PAGE Study AfricanAmerican Sub 32516 G=0.66106 A=0.33894
The PAGE Study Mexican Sub 10810 G=0.50564 A=0.49436
The PAGE Study Asian Sub 8318 G=0.1088 A=0.8912
The PAGE Study PuertoRican Sub 7918 G=0.6268 A=0.3732
The PAGE Study NativeHawaiian Sub 4534 G=0.3542 A=0.6458
The PAGE Study Cuban Sub 4230 G=0.6097 A=0.3903
The PAGE Study Dominican Sub 3828 G=0.6160 A=0.3840
The PAGE Study CentralAmerican Sub 2450 G=0.5555 A=0.4445
The PAGE Study SouthAmerican Sub 1982 G=0.4950 A=0.5050
The PAGE Study NativeAmerican Sub 1260 G=0.5897 A=0.4103
The PAGE Study SouthAsian Sub 856 G=0.474 A=0.526
8.3KJPN JAPANESE Study-wide 16760 G=0.10513 A=0.89487
GO Exome Sequencing Project Global Study-wide 12984 G=0.65889 A=0.34111
GO Exome Sequencing Project European American Sub 8584 G=0.6558 A=0.3442
GO Exome Sequencing Project African American Sub 4400 G=0.6650 A=0.3350
1000Genomes Global Study-wide 5008 G=0.4792 A=0.5208
1000Genomes African Sub 1322 G=0.6619 A=0.3381
1000Genomes East Asian Sub 1008 G=0.1071 A=0.8929
1000Genomes Europe Sub 1006 G=0.6421 A=0.3579
1000Genomes South Asian Sub 978 G=0.429 A=0.571
1000Genomes American Sub 694 G=0.506 A=0.494
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.6203 A=0.3797
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.6601 A=0.3399
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.6521 A=0.3479
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.1075 A=0.8925
HapMap Global Study-wide 1884 G=0.4697 A=0.5303
HapMap American Sub 764 G=0.432 A=0.568
HapMap African Sub 692 G=0.605 A=0.395
HapMap Asian Sub 254 G=0.087 A=0.913
HapMap Europe Sub 174 G=0.655 A=0.345
Korean Genome Project KOREAN Study-wide 1832 G=0.0933 A=0.9067
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.692 A=0.308
CNV burdens in cranial meningiomas Global Study-wide 790 G=0.110 A=0.890
CNV burdens in cranial meningiomas CRM Sub 790 G=0.110 A=0.890
A Vietnamese Genetic Variation Database Global Study-wide 614 G=0.134 A=0.866
Northern Sweden ACPOP Study-wide 600 G=0.665 A=0.335
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.674 A=0.326
SGDP_PRJ Global Study-wide 414 G=0.275 A=0.725
FINRISK Finnish from FINRISK project Study-wide 304 G=0.618 A=0.382
Qatari Global Study-wide 216 G=0.713 A=0.287
Siberian Global Study-wide 50 G=0.30 A=0.70
The Danish reference pan genome Danish Study-wide 40 G=0.72 A=0.28
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 G= A C
GRCh38.p13 chr 4 NC_000004.12:g.48170249= NC_000004.12:g.48170249G>A NC_000004.12:g.48170249G>C
GRCh37.p13 chr 4 NC_000004.11:g.48172266= NC_000004.11:g.48172266G>A NC_000004.11:g.48172266G>C
TEC transcript NM_003215.3:c.453= NM_003215.3:c.453C>T NM_003215.3:c.453C>G
TEC transcript NM_003215.2:c.453= NM_003215.2:c.453C>T NM_003215.2:c.453C>G
TEC transcript variant X2 XM_011513737.2:c.345= XM_011513737.2:c.345C>T XM_011513737.2:c.345C>G
TEC transcript variant X4 XR_925160.2:n.498= XR_925160.2:n.498C>T XR_925160.2:n.498C>G
TEC transcript variant X6 XM_017008569.1:c.105= XM_017008569.1:c.105C>T XM_017008569.1:c.105C>G
TEC transcript variant X1 XM_024454193.1:c.453= XM_024454193.1:c.453C>T XM_024454193.1:c.453C>G
TEC transcript variant X3 XR_001741318.1:n.498= XR_001741318.1:n.498C>T XR_001741318.1:n.498C>G
TEC transcript variant X7 XR_001741319.1:n.611= XR_001741319.1:n.611C>T XR_001741319.1:n.611C>G
TEC transcript variant X5 XM_011513741.1:c.453= XM_011513741.1:c.453C>T XM_011513741.1:c.453C>G
tyrosine-protein kinase Tec NP_003206.2:p.Ser151= NP_003206.2:p.Ser151= NP_003206.2:p.Ser151Arg
tyrosine-protein kinase Tec isoform X2 XP_011512039.1:p.Ser115= XP_011512039.1:p.Ser115= XP_011512039.1:p.Ser115Arg
tyrosine-protein kinase Tec isoform X4 XP_016864058.1:p.Ser35= XP_016864058.1:p.Ser35= XP_016864058.1:p.Ser35Arg
tyrosine-protein kinase Tec isoform X1 XP_024309961.1:p.Ser151= XP_024309961.1:p.Ser151= XP_024309961.1:p.Ser151Arg
tyrosine-protein kinase Tec isoform X3 XP_011512043.1:p.Ser151= XP_011512043.1:p.Ser151= XP_011512043.1:p.Ser151Arg
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#.

141 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3205886 Sep 28, 2001 (100)
2 CSHL-HAPMAP ss19571353 Feb 27, 2004 (120)
3 SSAHASNP ss22151713 Apr 05, 2004 (121)
4 ABI ss44531011 Mar 15, 2006 (126)
5 SI_EXO ss52074433 Oct 16, 2006 (127)
6 ILLUMINA ss65726414 Oct 16, 2006 (127)
7 CANCER-GENOME ss74802214 Dec 07, 2007 (129)
8 ILLUMINA ss74855129 Dec 07, 2007 (129)
9 CORNELL ss86239617 Mar 23, 2008 (129)
10 HUMANGENOME_JCVI ss98820344 Feb 05, 2009 (130)
11 BGI ss105825538 Feb 05, 2009 (130)
12 1000GENOMES ss113060488 Jan 25, 2009 (130)
13 KRIBB_YJKIM ss119425443 Dec 01, 2009 (131)
14 ENSEMBL ss134712724 Dec 01, 2009 (131)
15 GMI ss157199866 Dec 01, 2009 (131)
16 SEATTLESEQ ss159707587 Dec 01, 2009 (131)
17 ILLUMINA ss160524915 Dec 01, 2009 (131)
18 COMPLETE_GENOMICS ss166547051 Jul 04, 2010 (132)
19 ILLUMINA ss173230987 Jul 04, 2010 (132)
20 BUSHMAN ss198470774 Jul 04, 2010 (132)
21 1000GENOMES ss220904994 Jul 14, 2010 (132)
22 1000GENOMES ss232377439 Jul 14, 2010 (132)
23 1000GENOMES ss239673670 Jul 15, 2010 (132)
24 BL ss253097906 May 09, 2011 (134)
25 GMI ss277688458 May 04, 2012 (137)
26 GMI ss284896773 Apr 25, 2013 (138)
27 PJP ss293063477 May 09, 2011 (134)
28 NHLBI-ESP ss342163078 May 09, 2011 (134)
29 ILLUMINA ss480495411 May 04, 2012 (137)
30 ILLUMINA ss480509769 May 04, 2012 (137)
31 ILLUMINA ss481313927 Sep 08, 2015 (146)
32 ILLUMINA ss485045213 May 04, 2012 (137)
33 1000GENOMES ss490887068 May 04, 2012 (137)
34 EXOME_CHIP ss491355538 May 04, 2012 (137)
35 CLINSEQ_SNP ss491853904 May 04, 2012 (137)
36 ILLUMINA ss537065768 Sep 08, 2015 (146)
37 TISHKOFF ss557491447 Apr 25, 2013 (138)
38 SSMP ss651276781 Apr 25, 2013 (138)
39 ILLUMINA ss778488718 Sep 08, 2015 (146)
40 ILLUMINA ss780828616 Sep 08, 2015 (146)
41 ILLUMINA ss782968830 Sep 08, 2015 (146)
42 ILLUMINA ss783511461 Sep 08, 2015 (146)
43 ILLUMINA ss783930546 Sep 08, 2015 (146)
44 ILLUMINA ss832225127 Sep 08, 2015 (146)
45 ILLUMINA ss833944687 Sep 08, 2015 (146)
46 JMKIDD_LAB ss974452450 Aug 21, 2014 (142)
47 EVA-GONL ss980068783 Aug 21, 2014 (142)
48 JMKIDD_LAB ss1067461052 Aug 21, 2014 (142)
49 JMKIDD_LAB ss1071505671 Aug 21, 2014 (142)
50 1000GENOMES ss1309554702 Aug 21, 2014 (142)
51 DDI ss1429866172 Apr 01, 2015 (144)
52 EVA_GENOME_DK ss1580538107 Apr 01, 2015 (144)
53 EVA_FINRISK ss1584034180 Apr 01, 2015 (144)
54 EVA_DECODE ss1589566761 Apr 01, 2015 (144)
55 EVA_UK10K_ALSPAC ss1610002005 Apr 01, 2015 (144)
56 EVA_UK10K_TWINSUK ss1652996038 Apr 01, 2015 (144)
57 EVA_EXAC ss1687485150 Apr 01, 2015 (144)
58 EVA_MGP ss1711058285 Apr 01, 2015 (144)
59 EVA_SVP ss1712670518 Apr 01, 2015 (144)
60 ILLUMINA ss1752524172 Sep 08, 2015 (146)
61 ILLUMINA ss1752524173 Sep 08, 2015 (146)
62 HAMMER_LAB ss1801393667 Sep 08, 2015 (146)
63 ILLUMINA ss1917780312 Feb 12, 2016 (147)
64 WEILL_CORNELL_DGM ss1923300038 Feb 12, 2016 (147)
65 ILLUMINA ss1946115520 Feb 12, 2016 (147)
66 ILLUMINA ss1958680243 Feb 12, 2016 (147)
67 GENOMED ss1969730101 Jul 19, 2016 (147)
68 JJLAB ss2022236820 Sep 14, 2016 (149)
69 ILLUMINA ss2094815461 Dec 20, 2016 (150)
70 ILLUMINA ss2095144045 Dec 20, 2016 (150)
71 USC_VALOUEV ss2150347952 Dec 20, 2016 (150)
72 HUMAN_LONGEVITY ss2262717132 Dec 20, 2016 (150)
73 TOPMED ss2430241333 Dec 20, 2016 (150)
74 SYSTEMSBIOZJU ss2625618843 Nov 08, 2017 (151)
75 ILLUMINA ss2634115579 Nov 08, 2017 (151)
76 GRF ss2705804513 Nov 08, 2017 (151)
77 GNOMAD ss2734496572 Nov 08, 2017 (151)
78 GNOMAD ss2747234197 Nov 08, 2017 (151)
79 GNOMAD ss2808759522 Nov 08, 2017 (151)
80 AFFY ss2985291688 Nov 08, 2017 (151)
81 SWEGEN ss2994591466 Nov 08, 2017 (151)
82 ILLUMINA ss3022370082 Nov 08, 2017 (151)
83 EVA_SAMSUNG_MC ss3023060615 Nov 08, 2017 (151)
84 BIOINF_KMB_FNS_UNIBA ss3024888823 Nov 08, 2017 (151)
85 CSHL ss3345682398 Nov 08, 2017 (151)
86 TOPMED ss3427528780 Nov 08, 2017 (151)
87 TOPMED ss3427528781 Nov 08, 2017 (151)
88 ILLUMINA ss3628958476 Oct 12, 2018 (152)
89 ILLUMINA ss3628958477 Oct 12, 2018 (152)
90 ILLUMINA ss3632052529 Oct 12, 2018 (152)
91 ILLUMINA ss3633334002 Oct 12, 2018 (152)
92 ILLUMINA ss3634052945 Oct 12, 2018 (152)
93 ILLUMINA ss3634951043 Oct 12, 2018 (152)
94 ILLUMINA ss3634951044 Oct 12, 2018 (152)
95 ILLUMINA ss3635735897 Oct 12, 2018 (152)
96 ILLUMINA ss3636653814 Oct 12, 2018 (152)
97 ILLUMINA ss3637488411 Oct 12, 2018 (152)
98 ILLUMINA ss3638484905 Oct 12, 2018 (152)
99 ILLUMINA ss3640658339 Oct 12, 2018 (152)
100 ILLUMINA ss3640658340 Oct 12, 2018 (152)
101 ILLUMINA ss3643436385 Oct 12, 2018 (152)
102 ILLUMINA ss3644848288 Oct 12, 2018 (152)
103 OMUKHERJEE_ADBS ss3646306343 Oct 12, 2018 (152)
104 URBANLAB ss3647716991 Oct 12, 2018 (152)
105 ILLUMINA ss3652854540 Oct 12, 2018 (152)
106 ILLUMINA ss3652854541 Oct 12, 2018 (152)
107 ILLUMINA ss3654062564 Oct 12, 2018 (152)
108 EGCUT_WGS ss3662517611 Jul 13, 2019 (153)
109 EVA_DECODE ss3711964781 Jul 13, 2019 (153)
110 ILLUMINA ss3726130243 Jul 13, 2019 (153)
111 ACPOP ss3731110373 Jul 13, 2019 (153)
112 ILLUMINA ss3744524676 Jul 13, 2019 (153)
113 ILLUMINA ss3745251299 Jul 13, 2019 (153)
114 ILLUMINA ss3745251300 Jul 13, 2019 (153)
115 EVA ss3761747797 Jul 13, 2019 (153)
116 PAGE_CC ss3771121985 Jul 13, 2019 (153)
117 ILLUMINA ss3772745971 Jul 13, 2019 (153)
118 ILLUMINA ss3772745972 Jul 13, 2019 (153)
119 PACBIO ss3784698501 Jul 13, 2019 (153)
120 PACBIO ss3790158527 Jul 13, 2019 (153)
121 PACBIO ss3795033761 Jul 13, 2019 (153)
122 KHV_HUMAN_GENOMES ss3804881280 Jul 13, 2019 (153)
123 EVA ss3824014244 Apr 26, 2020 (154)
124 EVA ss3825521876 Apr 26, 2020 (154)
125 EVA ss3825538208 Apr 26, 2020 (154)
126 EVA ss3825656816 Apr 26, 2020 (154)
127 EVA ss3828517850 Apr 26, 2020 (154)
128 EVA ss3837694981 Apr 26, 2020 (154)
129 EVA ss3843130459 Apr 26, 2020 (154)
130 SGDP_PRJ ss3858816392 Apr 26, 2020 (154)
131 KRGDB ss3905005825 Apr 26, 2020 (154)
132 KOGIC ss3954042409 Apr 26, 2020 (154)
133 FSA-LAB ss3984282855 Apr 26, 2021 (155)
134 FSA-LAB ss3984282856 Apr 26, 2021 (155)
135 EVA ss3984527643 Apr 26, 2021 (155)
136 EVA ss3986027476 Apr 26, 2021 (155)
137 EVA ss3986279256 Apr 26, 2021 (155)
138 TOPMED ss4612365053 Apr 26, 2021 (155)
139 TOMMO_GENOMICS ss5165442823 Apr 26, 2021 (155)
140 EVA ss5237006223 Apr 26, 2021 (155)
141 EVA ss5237181903 Apr 26, 2021 (155)
142 1000Genomes NC_000004.11 - 48172266 Oct 12, 2018 (152)
143 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 48172266 Oct 12, 2018 (152)
144 Genetic variation in the Estonian population NC_000004.11 - 48172266 Oct 12, 2018 (152)
145 ExAC NC_000004.11 - 48172266 Oct 12, 2018 (152)
146 FINRISK NC_000004.11 - 48172266 Apr 26, 2020 (154)
147 The Danish reference pan genome NC_000004.11 - 48172266 Apr 26, 2020 (154)
148 gnomAD - Genomes NC_000004.12 - 48170249 Apr 26, 2021 (155)
149 gnomAD - Exomes NC_000004.11 - 48172266 Jul 13, 2019 (153)
150 GO Exome Sequencing Project NC_000004.11 - 48172266 Oct 12, 2018 (152)
151 Genome of the Netherlands Release 5 NC_000004.11 - 48172266 Apr 26, 2020 (154)
152 HapMap NC_000004.12 - 48170249 Apr 26, 2020 (154)
153 KOREAN population from KRGDB NC_000004.11 - 48172266 Apr 26, 2020 (154)
154 Korean Genome Project NC_000004.12 - 48170249 Apr 26, 2020 (154)
155 Medical Genome Project healthy controls from Spanish population NC_000004.11 - 48172266 Apr 26, 2020 (154)
156 Northern Sweden NC_000004.11 - 48172266 Jul 13, 2019 (153)
157 The PAGE Study NC_000004.12 - 48170249 Jul 13, 2019 (153)
158 CNV burdens in cranial meningiomas NC_000004.11 - 48172266 Apr 26, 2021 (155)
159 Qatari NC_000004.11 - 48172266 Apr 26, 2020 (154)
160 SGDP_PRJ NC_000004.11 - 48172266 Apr 26, 2020 (154)
161 Siberian NC_000004.11 - 48172266 Apr 26, 2020 (154)
162 8.3KJPN NC_000004.11 - 48172266 Apr 26, 2021 (155)
163 TopMed NC_000004.12 - 48170249 Apr 26, 2021 (155)
164 UK 10K study - Twins NC_000004.11 - 48172266 Oct 12, 2018 (152)
165 A Vietnamese Genetic Variation Database NC_000004.11 - 48172266 Jul 13, 2019 (153)
166 ALFA NC_000004.12 - 48170249 Apr 26, 2021 (155)
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)
rs117829731 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss113060488, ss166547051, ss198470774, ss253097906, ss277688458, ss284896773, ss293063477, ss480495411, ss491853904, ss1589566761, ss1712670518, ss3643436385 NC_000004.10:47867022:G:A NC_000004.12:48170248:G:A (self)
20944235, 11666815, 8255859, 7448521, 30641, 6703046, 3599176, 472468, 5142528, 12183219, 174045, 4395238, 77003, 5341968, 10833372, 2864306, 23412130, 11666815, 2562430, ss220904994, ss232377439, ss239673670, ss342163078, ss480509769, ss481313927, ss485045213, ss490887068, ss491355538, ss537065768, ss557491447, ss651276781, ss778488718, ss780828616, ss782968830, ss783511461, ss783930546, ss832225127, ss833944687, ss974452450, ss980068783, ss1067461052, ss1071505671, ss1309554702, ss1429866172, ss1580538107, ss1584034180, ss1610002005, ss1652996038, ss1687485150, ss1711058285, ss1752524172, ss1752524173, ss1801393667, ss1917780312, ss1923300038, ss1946115520, ss1958680243, ss1969730101, ss2022236820, ss2094815461, ss2095144045, ss2150347952, ss2430241333, ss2625618843, ss2634115579, ss2705804513, ss2734496572, ss2747234197, ss2808759522, ss2985291688, ss2994591466, ss3022370082, ss3023060615, ss3345682398, ss3628958476, ss3628958477, ss3632052529, ss3633334002, ss3634052945, ss3634951043, ss3634951044, ss3635735897, ss3636653814, ss3637488411, ss3638484905, ss3640658339, ss3640658340, ss3644848288, ss3646306343, ss3652854540, ss3652854541, ss3654062564, ss3662517611, ss3731110373, ss3744524676, ss3745251299, ss3745251300, ss3761747797, ss3772745971, ss3772745972, ss3784698501, ss3790158527, ss3795033761, ss3824014244, ss3825521876, ss3825538208, ss3825656816, ss3828517850, ss3837694981, ss3858816392, ss3905005825, ss3984282855, ss3984282856, ss3984527643, ss3986027476, ss3986279256, ss5165442823 NC_000004.11:48172265:G:A NC_000004.12:48170248:G:A (self)
148274059, 2608548, 10420410, 343454, 281131154, 449742609, 2606023684, ss2262717132, ss3024888823, ss3427528780, ss3647716991, ss3711964781, ss3726130243, ss3771121985, ss3804881280, ss3843130459, ss3954042409, ss4612365053, ss5237006223, ss5237181903 NC_000004.12:48170248:G:A NC_000004.12:48170248:G:A (self)
ss19571353, ss22151713, ss52074433 NT_006238.10:7874231:G:A NC_000004.12:48170248:G:A (self)
ss3205886, ss44531011, ss65726414, ss74802214, ss74855129, ss86239617, ss98820344, ss105825538, ss119425443, ss134712724, ss157199866, ss159707587, ss160524915, ss173230987 NT_006238.11:7875169:G:A NC_000004.12:48170248:G:A (self)
2606023684, ss3427528781 NC_000004.12:48170248:G:C NC_000004.12:48170248:G:C (self)
Help

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

No publications for rs2271173

Help

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

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top 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.

Software version is: 2.0.1.post596+ae089ad