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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.

rs639225

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:27202872 (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
A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.442261 (117062/264690, TOPMED)
G=0.470606 (118122/251000, GnomAD_exome)
G=0.466707 (86942/186288, ALFA) (+ 23 more)
G=0.459452 (64326/140006, GnomAD)
G=0.464882 (56406/121334, ExAC)
G=0.37030 (10464/28258, 14KJPN)
G=0.37208 (6236/16760, 8.3KJPN)
G=0.44626 (5804/13006, GO-ESP)
G=0.4179 (2676/6404, 1000G_30x)
G=0.4143 (2075/5008, 1000G)
A=0.4194 (1879/4480, Estonian)
G=0.4920 (1896/3854, ALSPAC)
G=0.4811 (1784/3708, TWINSUK)
G=0.4235 (1241/2930, KOREAN)
G=0.3847 (727/1890, HapMap)
G=0.4252 (779/1832, Korea1K)
A=0.491 (490/998, GoNL)
G=0.448 (353/788, PRJEB37584)
G=0.419 (256/611, Vietnamese)
A=0.427 (256/600, NorthernSweden)
G=0.442 (236/534, MGP)
A=0.331 (117/354, SGDP_PRJ)
A=0.418 (127/304, FINRISK)
G=0.384 (83/216, Qatari)
A=0.21 (9/42, Siberian)
A=0.47 (19/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
TEK : Synonymous Variant
Publications
3 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 202540 A=0.534329 G=0.465671
European Sub 167808 A=0.527782 G=0.472218
African Sub 12134 A=0.63128 G=0.36872
African Others Sub 434 A=0.629 G=0.371
African American Sub 11700 A=0.63137 G=0.36863
Asian Sub 686 A=0.631 G=0.369
East Asian Sub 524 A=0.628 G=0.372
Other Asian Sub 162 A=0.642 G=0.358
Latin American 1 Sub 1106 A=0.5723 G=0.4277
Latin American 2 Sub 6316 A=0.4872 G=0.5128
South Asian Sub 184 A=0.603 G=0.397
Other Sub 14306 A=0.54124 G=0.45876


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 A=0.557739 G=0.442261
gnomAD - Exomes Global Study-wide 251000 A=0.529394 G=0.470606
gnomAD - Exomes European Sub 134988 A=0.494918 G=0.505082
gnomAD - Exomes Asian Sub 48994 A=0.61389 G=0.38611
gnomAD - Exomes American Sub 34570 A=0.46786 G=0.53214
gnomAD - Exomes African Sub 16254 A=0.63898 G=0.36102
gnomAD - Exomes Ashkenazi Jewish Sub 10072 A=0.61388 G=0.38612
gnomAD - Exomes Other Sub 6122 A=0.5309 G=0.4691
Allele Frequency Aggregator Total Global 186288 A=0.533293 G=0.466707
Allele Frequency Aggregator European Sub 157820 A=0.529027 G=0.470973
Allele Frequency Aggregator Other Sub 12870 A=0.54452 G=0.45548
Allele Frequency Aggregator African Sub 7306 A=0.6287 G=0.3713
Allele Frequency Aggregator Latin American 2 Sub 6316 A=0.4872 G=0.5128
Allele Frequency Aggregator Latin American 1 Sub 1106 A=0.5723 G=0.4277
Allele Frequency Aggregator Asian Sub 686 A=0.631 G=0.369
Allele Frequency Aggregator South Asian Sub 184 A=0.603 G=0.397
gnomAD - Genomes Global Study-wide 140006 A=0.540548 G=0.459452
gnomAD - Genomes European Sub 75858 A=0.48770 G=0.51230
gnomAD - Genomes African Sub 41922 A=0.63241 G=0.36759
gnomAD - Genomes American Sub 13640 A=0.51408 G=0.48592
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.6291 G=0.3709
gnomAD - Genomes East Asian Sub 3118 A=0.6007 G=0.3993
gnomAD - Genomes Other Sub 2146 A=0.5578 G=0.4422
ExAC Global Study-wide 121334 A=0.535118 G=0.464882
ExAC Europe Sub 73324 A=0.50526 G=0.49474
ExAC Asian Sub 25144 A=0.61442 G=0.38558
ExAC American Sub 11556 A=0.46141 G=0.53859
ExAC African Sub 10402 A=0.63776 G=0.36224
ExAC Other Sub 908 A=0.512 G=0.488
14KJPN JAPANESE Study-wide 28258 A=0.62970 G=0.37030
8.3KJPN JAPANESE Study-wide 16760 A=0.62792 G=0.37208
GO Exome Sequencing Project Global Study-wide 13006 A=0.55374 G=0.44626
GO Exome Sequencing Project European American Sub 8600 A=0.5191 G=0.4809
GO Exome Sequencing Project African American Sub 4406 A=0.6214 G=0.3786
1000Genomes_30x Global Study-wide 6404 A=0.5821 G=0.4179
1000Genomes_30x African Sub 1786 A=0.6685 G=0.3315
1000Genomes_30x Europe Sub 1266 A=0.5237 G=0.4763
1000Genomes_30x South Asian Sub 1202 A=0.5932 G=0.4068
1000Genomes_30x East Asian Sub 1170 A=0.5897 G=0.4103
1000Genomes_30x American Sub 980 A=0.478 G=0.522
1000Genomes Global Study-wide 5008 A=0.5857 G=0.4143
1000Genomes African Sub 1322 A=0.6664 G=0.3336
1000Genomes East Asian Sub 1008 A=0.6002 G=0.3998
1000Genomes Europe Sub 1006 A=0.5189 G=0.4811
1000Genomes South Asian Sub 978 A=0.597 G=0.403
1000Genomes American Sub 694 A=0.491 G=0.509
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.4194 G=0.5806
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.5080 G=0.4920
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.5189 G=0.4811
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.5765 G=0.4235, T=0.0000
HapMap Global Study-wide 1890 A=0.6153 G=0.3847
HapMap American Sub 770 A=0.564 G=0.436
HapMap African Sub 692 A=0.685 G=0.315
HapMap Asian Sub 252 A=0.603 G=0.397
HapMap Europe Sub 176 A=0.585 G=0.415
Korean Genome Project KOREAN Study-wide 1832 A=0.5748 G=0.4252
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.491 G=0.509
CNV burdens in cranial meningiomas Global Study-wide 788 A=0.552 G=0.448
CNV burdens in cranial meningiomas CRM Sub 788 A=0.552 G=0.448
A Vietnamese Genetic Variation Database Global Study-wide 611 A=0.581 G=0.419
Northern Sweden ACPOP Study-wide 600 A=0.427 G=0.573
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.558 G=0.442
SGDP_PRJ Global Study-wide 354 A=0.331 G=0.669
FINRISK Finnish from FINRISK project Study-wide 304 A=0.418 G=0.582
Qatari Global Study-wide 216 A=0.616 G=0.384
Siberian Global Study-wide 42 A=0.21 G=0.79
The Danish reference pan genome Danish Study-wide 40 A=0.47 G=0.53
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 9 NC_000009.12:g.27202872A>G
GRCh38.p14 chr 9 NC_000009.12:g.27202872A>T
GRCh37.p13 chr 9 NC_000009.11:g.27202870A>G
GRCh37.p13 chr 9 NC_000009.11:g.27202870A>T
TEK RefSeqGene NG_011828.1:g.98724A>G
TEK RefSeqGene NG_011828.1:g.98724A>T
Gene: TEK, TEK receptor tyrosine kinase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TEK transcript variant 2 NM_001290077.1:c.1833A>G S [TCA] > S [TCG] Coding Sequence Variant
angiopoietin-1 receptor isoform 2 precursor NP_001277006.1:p.Ser611= S (Ser) > S (Ser) Synonymous Variant
TEK transcript variant 2 NM_001290077.1:c.1833A>T S [TCA] > S [TCT] Coding Sequence Variant
angiopoietin-1 receptor isoform 2 precursor NP_001277006.1:p.Ser611= S (Ser) > S (Ser) Synonymous Variant
TEK transcript variant 3 NM_001290078.1:c.1521A>G S [TCA] > S [TCG] Coding Sequence Variant
angiopoietin-1 receptor isoform 3 precursor NP_001277007.1:p.Ser507= S (Ser) > S (Ser) Synonymous Variant
TEK transcript variant 3 NM_001290078.1:c.1521A>T S [TCA] > S [TCT] Coding Sequence Variant
angiopoietin-1 receptor isoform 3 precursor NP_001277007.1:p.Ser507= S (Ser) > S (Ser) Synonymous Variant
TEK transcript variant 4 NM_001375475.1:c.1962A>G S [TCA] > S [TCG] Coding Sequence Variant
angiopoietin-1 receptor isoform 4 precursor NP_001362404.1:p.Ser654= S (Ser) > S (Ser) Synonymous Variant
TEK transcript variant 4 NM_001375475.1:c.1962A>T S [TCA] > S [TCT] Coding Sequence Variant
angiopoietin-1 receptor isoform 4 precursor NP_001362404.1:p.Ser654= S (Ser) > S (Ser) Synonymous Variant
TEK transcript variant 5 NM_001375476.1:c.1833A>G S [TCA] > S [TCG] Coding Sequence Variant
angiopoietin-1 receptor isoform 5 precursor NP_001362405.1:p.Ser611= S (Ser) > S (Ser) Synonymous Variant
TEK transcript variant 5 NM_001375476.1:c.1833A>T S [TCA] > S [TCT] Coding Sequence Variant
angiopoietin-1 receptor isoform 5 precursor NP_001362405.1:p.Ser611= S (Ser) > S (Ser) Synonymous Variant
TEK transcript variant 1 NM_000459.5:c.1962A>G S [TCA] > S [TCG] Coding Sequence Variant
angiopoietin-1 receptor isoform 1 precursor NP_000450.3:p.Ser654= S (Ser) > S (Ser) Synonymous Variant
TEK transcript variant 1 NM_000459.5:c.1962A>T S [TCA] > S [TCT] Coding Sequence Variant
angiopoietin-1 receptor isoform 1 precursor NP_000450.3:p.Ser654= S (Ser) > S (Ser) Synonymous 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: G (allele ID: 318153 )
ClinVar Accession Disease Names Clinical Significance
RCV000366679.7 Multiple cutaneous and mucosal venous malformations Benign
RCV001613234.7 not provided Benign
RCV001699406.3 not specified Benign
RCV001838623.3 Glaucoma 3, primary congenital, E Benign
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 A= G T
GRCh38.p14 chr 9 NC_000009.12:g.27202872= NC_000009.12:g.27202872A>G NC_000009.12:g.27202872A>T
GRCh37.p13 chr 9 NC_000009.11:g.27202870= NC_000009.11:g.27202870A>G NC_000009.11:g.27202870A>T
TEK RefSeqGene NG_011828.1:g.98724= NG_011828.1:g.98724A>G NG_011828.1:g.98724A>T
TEK transcript variant 1 NM_000459.5:c.1962= NM_000459.5:c.1962A>G NM_000459.5:c.1962A>T
TEK transcript variant 1 NM_000459.4:c.1962= NM_000459.4:c.1962A>G NM_000459.4:c.1962A>T
TEK transcript NM_000459.3:c.1962= NM_000459.3:c.1962A>G NM_000459.3:c.1962A>T
TEK transcript variant 2 NM_001290077.1:c.1833= NM_001290077.1:c.1833A>G NM_001290077.1:c.1833A>T
TEK transcript variant 4 NM_001375475.1:c.1962= NM_001375475.1:c.1962A>G NM_001375475.1:c.1962A>T
TEK transcript variant 3 NM_001290078.1:c.1521= NM_001290078.1:c.1521A>G NM_001290078.1:c.1521A>T
TEK transcript variant 5 NM_001375476.1:c.1833= NM_001375476.1:c.1833A>G NM_001375476.1:c.1833A>T
angiopoietin-1 receptor isoform 1 precursor NP_000450.3:p.Ser654= NP_000450.3:p.Ser654= NP_000450.3:p.Ser654=
angiopoietin-1 receptor isoform 2 precursor NP_001277006.1:p.Ser611= NP_001277006.1:p.Ser611= NP_001277006.1:p.Ser611=
angiopoietin-1 receptor isoform 4 precursor NP_001362404.1:p.Ser654= NP_001362404.1:p.Ser654= NP_001362404.1:p.Ser654=
angiopoietin-1 receptor isoform 3 precursor NP_001277007.1:p.Ser507= NP_001277007.1:p.Ser507= NP_001277007.1:p.Ser507=
angiopoietin-1 receptor isoform 5 precursor NP_001362405.1:p.Ser611= NP_001362405.1:p.Ser611= NP_001362405.1:p.Ser611=
angiopoietin-1 receptor isoform 1 precursor NP_000450.2:p.Ser654= NP_000450.2:p.Ser654= NP_000450.2:p.Ser654=
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#.

150 SubSNP, 26 Frequency, 4 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss811983 Aug 11, 2000 (83)
2 TSC-CSHL ss2108191 Oct 23, 2000 (88)
3 YUSUKE ss3221081 Sep 28, 2001 (100)
4 SC_JCM ss3936541 Sep 28, 2001 (100)
5 WI_SSAHASNP ss12025270 Jul 11, 2003 (116)
6 SC_SNP ss15540620 Feb 27, 2004 (120)
7 SSAHASNP ss22864599 Apr 05, 2004 (121)
8 PERLEGEN ss24374628 Sep 20, 2004 (123)
9 MGC_GENOME_DIFF ss28507732 Sep 24, 2004 (126)
10 APPLERA_GI ss48424650 Mar 10, 2006 (126)
11 ILLUMINA ss65735086 Oct 16, 2006 (127)
12 SHGC ss71640643 May 17, 2007 (127)
13 CANCER-GENOME ss74801528 Dec 06, 2007 (129)
14 ILLUMINA ss74891267 Dec 06, 2007 (129)
15 HGSV ss77624056 Dec 06, 2007 (129)
16 HGSV ss80237201 Dec 15, 2007 (130)
17 HUMANGENOME_JCVI ss97789986 Feb 04, 2009 (130)
18 1000GENOMES ss108701546 Jan 23, 2009 (130)
19 1000GENOMES ss114353848 Jan 25, 2009 (130)
20 ILLUMINA-UK ss115715698 Feb 14, 2009 (130)
21 KRIBB_YJKIM ss119361067 Dec 01, 2009 (131)
22 ENSEMBL ss134170553 Dec 01, 2009 (131)
23 ENSEMBL ss144038110 Dec 01, 2009 (131)
24 GMI ss157348493 Dec 01, 2009 (131)
25 SEATTLESEQ ss159718106 Dec 01, 2009 (131)
26 ILLUMINA ss160770917 Dec 01, 2009 (131)
27 COMPLETE_GENOMICS ss163988381 Jul 04, 2010 (132)
28 COMPLETE_GENOMICS ss164856063 Jul 04, 2010 (132)
29 COMPLETE_GENOMICS ss166340699 Jul 04, 2010 (132)
30 ILLUMINA ss173994832 Jul 04, 2010 (132)
31 BUSHMAN ss200271537 Jul 04, 2010 (132)
32 BCM-HGSC-SUB ss206655076 Jul 04, 2010 (132)
33 1000GENOMES ss224197690 Jul 14, 2010 (132)
34 1000GENOMES ss234779829 Jul 15, 2010 (132)
35 1000GENOMES ss241562015 Jul 15, 2010 (132)
36 BL ss254142187 May 09, 2011 (134)
37 GMI ss280165597 May 04, 2012 (137)
38 GMI ss285994470 Apr 25, 2013 (138)
39 PJP ss294424623 May 09, 2011 (134)
40 NHLBI-ESP ss342271232 May 09, 2011 (134)
41 ILLUMINA ss481232779 May 04, 2012 (137)
42 ILLUMINA ss481256371 May 04, 2012 (137)
43 ILLUMINA ss482242634 Sep 08, 2015 (146)
44 ILLUMINA ss485411746 May 04, 2012 (137)
45 1000GENOMES ss490976099 May 04, 2012 (137)
46 CLINSEQ_SNP ss491934002 May 04, 2012 (137)
47 ILLUMINA ss537345606 Sep 08, 2015 (146)
48 TISHKOFF ss561329510 Apr 25, 2013 (138)
49 SSMP ss655765439 Apr 25, 2013 (138)
50 ILLUMINA ss778938816 Sep 08, 2015 (146)
51 ILLUMINA ss783151320 Sep 08, 2015 (146)
52 ILLUMINA ss784107272 Sep 08, 2015 (146)
53 ILLUMINA ss832410526 Sep 08, 2015 (146)
54 ILLUMINA ss834400501 Sep 08, 2015 (146)
55 JMKIDD_LAB ss974470413 Aug 21, 2014 (142)
56 EVA-GONL ss986459431 Aug 21, 2014 (142)
57 JMKIDD_LAB ss1067502825 Aug 21, 2014 (142)
58 JMKIDD_LAB ss1076228815 Aug 21, 2014 (142)
59 1000GENOMES ss1333474276 Aug 21, 2014 (142)
60 EVA_GENOME_DK ss1583045875 Apr 01, 2015 (144)
61 EVA_FINRISK ss1584061740 Apr 01, 2015 (144)
62 EVA_DECODE ss1596094481 Apr 01, 2015 (144)
63 EVA_UK10K_ALSPAC ss1622548199 Apr 01, 2015 (144)
64 EVA_UK10K_TWINSUK ss1665542232 Apr 01, 2015 (144)
65 EVA_EXAC ss1689448476 Apr 01, 2015 (144)
66 EVA_MGP ss1711218517 Apr 01, 2015 (144)
67 EVA_SVP ss1713101949 Apr 01, 2015 (144)
68 ILLUMINA ss1752773508 Sep 08, 2015 (146)
69 WEILL_CORNELL_DGM ss1929743528 Feb 12, 2016 (147)
70 GENOMED ss1971188042 Jul 19, 2016 (147)
71 JJLAB ss2025583068 Sep 14, 2016 (149)
72 ILLUMINA ss2095220714 Dec 20, 2016 (150)
73 USC_VALOUEV ss2153808659 Dec 20, 2016 (150)
74 HUMAN_LONGEVITY ss2310577197 Dec 20, 2016 (150)
75 SYSTEMSBIOZJU ss2627264635 Nov 08, 2017 (151)
76 ILLUMINA ss2634855139 Nov 08, 2017 (151)
77 GRF ss2709614955 Nov 08, 2017 (151)
78 GNOMAD ss2737547161 Nov 08, 2017 (151)
79 GNOMAD ss2748167712 Nov 08, 2017 (151)
80 GNOMAD ss2877027729 Nov 08, 2017 (151)
81 AFFY ss2985459157 Nov 08, 2017 (151)
82 SWEGEN ss3004604476 Nov 08, 2017 (151)
83 EVA_SAMSUNG_MC ss3023064374 Nov 08, 2017 (151)
84 BIOINF_KMB_FNS_UNIBA ss3026580024 Nov 08, 2017 (151)
85 CSHL ss3348588235 Nov 08, 2017 (151)
86 ILLUMINA ss3630244639 Oct 12, 2018 (152)
87 ILLUMINA ss3632748149 Oct 12, 2018 (152)
88 ILLUMINA ss3633530604 Oct 12, 2018 (152)
89 ILLUMINA ss3634258720 Oct 12, 2018 (152)
90 ILLUMINA ss3635209280 Oct 12, 2018 (152)
91 ILLUMINA ss3635936815 Oct 12, 2018 (152)
92 ILLUMINA ss3636955735 Oct 12, 2018 (152)
93 ILLUMINA ss3637690105 Oct 12, 2018 (152)
94 ILLUMINA ss3638807996 Oct 12, 2018 (152)
95 ILLUMINA ss3640916570 Oct 12, 2018 (152)
96 ILLUMINA ss3643735173 Oct 12, 2018 (152)
97 OMUKHERJEE_ADBS ss3646385525 Oct 12, 2018 (152)
98 URBANLAB ss3649101680 Oct 12, 2018 (152)
99 ILLUMINA ss3653471646 Oct 12, 2018 (152)
100 ILLUMINA ss3654223287 Oct 12, 2018 (152)
101 EGCUT_WGS ss3672355401 Jul 13, 2019 (153)
102 EVA_DECODE ss3723742384 Jul 13, 2019 (153)
103 ACPOP ss3736429207 Jul 13, 2019 (153)
104 ILLUMINA ss3745509208 Jul 13, 2019 (153)
105 EVA ss3769087671 Jul 13, 2019 (153)
106 ILLUMINA ss3773001256 Jul 13, 2019 (153)
107 PACBIO ss3786383588 Jul 13, 2019 (153)
108 PACBIO ss3791604813 Jul 13, 2019 (153)
109 PACBIO ss3796486489 Jul 13, 2019 (153)
110 KHV_HUMAN_GENOMES ss3812245916 Jul 13, 2019 (153)
111 EVA ss3824422059 Apr 26, 2020 (154)
112 EVA ss3825525527 Apr 26, 2020 (154)
113 EVA ss3825753298 Apr 26, 2020 (154)
114 EVA ss3831606362 Apr 26, 2020 (154)
115 EVA ss3839320402 Apr 26, 2020 (154)
116 EVA ss3844783215 Apr 26, 2020 (154)
117 SGDP_PRJ ss3871819847 Apr 26, 2020 (154)
118 KRGDB ss3919482525 Apr 26, 2020 (154)
119 KOGIC ss3965554882 Apr 26, 2020 (154)
120 FSA-LAB ss3984415322 Apr 26, 2021 (155)
121 FSA-LAB ss3984415323 Apr 26, 2021 (155)
122 EVA ss3984618323 Apr 26, 2021 (155)
123 EVA ss3986045794 Apr 26, 2021 (155)
124 EVA ss3986444038 Apr 26, 2021 (155)
125 EVA ss4017433421 Apr 26, 2021 (155)
126 TOPMED ss4817659337 Apr 26, 2021 (155)
127 TOMMO_GENOMICS ss5192707305 Apr 26, 2021 (155)
128 EVA ss5237047834 Apr 26, 2021 (155)
129 EVA ss5237652844 Oct 16, 2022 (156)
130 1000G_HIGH_COVERAGE ss5280283658 Oct 16, 2022 (156)
131 TRAN_CS_UWATERLOO ss5314425106 Oct 16, 2022 (156)
132 EVA ss5315395892 Oct 16, 2022 (156)
133 EVA ss5386935094 Oct 16, 2022 (156)
134 HUGCELL_USP ss5476511502 Oct 16, 2022 (156)
135 EVA ss5509676384 Oct 16, 2022 (156)
136 1000G_HIGH_COVERAGE ss5572320348 Oct 16, 2022 (156)
137 EVA ss5623945610 Oct 16, 2022 (156)
138 EVA ss5624183036 Oct 16, 2022 (156)
139 SANFORD_IMAGENETICS ss5647189651 Oct 16, 2022 (156)
140 TOMMO_GENOMICS ss5735931419 Oct 16, 2022 (156)
141 EVA ss5799781755 Oct 16, 2022 (156)
142 EVA ss5800150860 Oct 16, 2022 (156)
143 YY_MCH ss5810463369 Oct 16, 2022 (156)
144 EVA ss5829037119 Oct 16, 2022 (156)
145 EVA ss5848720007 Oct 16, 2022 (156)
146 EVA ss5856728342 Oct 16, 2022 (156)
147 EVA ss5916089665 Oct 16, 2022 (156)
148 EVA ss5976470700 Oct 16, 2022 (156)
149 EVA ss5980547647 Oct 16, 2022 (156)
150 EVA ss5981253620 Oct 16, 2022 (156)
151 1000Genomes NC_000009.11 - 27202870 Oct 12, 2018 (152)
152 1000Genomes_30x NC_000009.12 - 27202872 Oct 16, 2022 (156)
153 The Avon Longitudinal Study of Parents and Children NC_000009.11 - 27202870 Oct 12, 2018 (152)
154 Genetic variation in the Estonian population NC_000009.11 - 27202870 Oct 12, 2018 (152)
155 ExAC NC_000009.11 - 27202870 Oct 12, 2018 (152)
156 FINRISK NC_000009.11 - 27202870 Apr 26, 2020 (154)
157 The Danish reference pan genome NC_000009.11 - 27202870 Apr 26, 2020 (154)
158 gnomAD - Genomes NC_000009.12 - 27202872 Apr 26, 2021 (155)
159 gnomAD - Exomes NC_000009.11 - 27202870 Jul 13, 2019 (153)
160 GO Exome Sequencing Project NC_000009.11 - 27202870 Oct 12, 2018 (152)
161 Genome of the Netherlands Release 5 NC_000009.11 - 27202870 Apr 26, 2020 (154)
162 HapMap NC_000009.12 - 27202872 Apr 26, 2020 (154)
163 KOREAN population from KRGDB NC_000009.11 - 27202870 Apr 26, 2020 (154)
164 Korean Genome Project NC_000009.12 - 27202872 Apr 26, 2020 (154)
165 Medical Genome Project healthy controls from Spanish population NC_000009.11 - 27202870 Apr 26, 2020 (154)
166 Northern Sweden NC_000009.11 - 27202870 Jul 13, 2019 (153)
167 CNV burdens in cranial meningiomas NC_000009.11 - 27202870 Apr 26, 2021 (155)
168 Qatari NC_000009.11 - 27202870 Apr 26, 2020 (154)
169 SGDP_PRJ NC_000009.11 - 27202870 Apr 26, 2020 (154)
170 Siberian NC_000009.11 - 27202870 Apr 26, 2020 (154)
171 8.3KJPN NC_000009.11 - 27202870 Apr 26, 2021 (155)
172 14KJPN NC_000009.12 - 27202872 Oct 16, 2022 (156)
173 TopMed NC_000009.12 - 27202872 Apr 26, 2021 (155)
174 UK 10K study - Twins NC_000009.11 - 27202870 Oct 12, 2018 (152)
175 A Vietnamese Genetic Variation Database NC_000009.11 - 27202870 Jul 13, 2019 (153)
176 ALFA NC_000009.12 - 27202872 Apr 26, 2021 (155)
177 ClinVar RCV000366679.7 Oct 16, 2022 (156)
178 ClinVar RCV001613234.7 Oct 16, 2022 (156)
179 ClinVar RCV001699406.3 Oct 16, 2022 (156)
180 ClinVar RCV001838623.3 Oct 16, 2022 (156)
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)
rs17648757 Oct 08, 2004 (123)
rs17853430 Mar 10, 2006 (126)
rs58216470 May 24, 2008 (130)
rs386602523 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77624056, ss80237201 NC_000009.9:27192869:A:G NC_000009.12:27202871:A:G (self)
ss108701546, ss114353848, ss115715698, ss160770917, ss163988381, ss164856063, ss166340699, ss200271537, ss206655076, ss254142187, ss280165597, ss285994470, ss294424623, ss481232779, ss491934002, ss1596094481, ss1713101949, ss3643735173 NC_000009.10:27192869:A:G NC_000009.12:27202871:A:G (self)
45719064, 25429474, 18093649, 9568029, 58201, 9210812, 6728749, 879863, 11343901, 26659919, 334277, 9714072, 167768, 11785458, 23836827, 6325013, 50676612, 25429474, 5649193, ss224197690, ss234779829, ss241562015, ss342271232, ss481256371, ss482242634, ss485411746, ss490976099, ss537345606, ss561329510, ss655765439, ss778938816, ss783151320, ss784107272, ss832410526, ss834400501, ss974470413, ss986459431, ss1067502825, ss1076228815, ss1333474276, ss1583045875, ss1584061740, ss1622548199, ss1665542232, ss1689448476, ss1711218517, ss1752773508, ss1929743528, ss1971188042, ss2025583068, ss2095220714, ss2153808659, ss2627264635, ss2634855139, ss2709614955, ss2737547161, ss2748167712, ss2877027729, ss2985459157, ss3004604476, ss3023064374, ss3348588235, ss3630244639, ss3632748149, ss3633530604, ss3634258720, ss3635209280, ss3635936815, ss3636955735, ss3637690105, ss3638807996, ss3640916570, ss3646385525, ss3653471646, ss3654223287, ss3672355401, ss3736429207, ss3745509208, ss3769087671, ss3773001256, ss3786383588, ss3791604813, ss3796486489, ss3824422059, ss3825525527, ss3825753298, ss3831606362, ss3839320402, ss3871819847, ss3919482525, ss3984415322, ss3984415323, ss3984618323, ss3986045794, ss3986444038, ss4017433421, ss5192707305, ss5315395892, ss5386935094, ss5509676384, ss5623945610, ss5624183036, ss5647189651, ss5799781755, ss5800150860, ss5829037119, ss5848720007, ss5976470700, ss5980547647, ss5981253620 NC_000009.11:27202869:A:G NC_000009.12:27202871:A:G (self)
RCV000366679.7, RCV001613234.7, RCV001699406.3, RCV001838623.3, 59846283, 322224452, 3810273, 21932883, 69768523, 655036898, 10344867678, ss2310577197, ss3026580024, ss3649101680, ss3723742384, ss3812245916, ss3844783215, ss3965554882, ss4817659337, ss5237047834, ss5237652844, ss5280283658, ss5314425106, ss5476511502, ss5572320348, ss5735931419, ss5810463369, ss5856728342, ss5916089665 NC_000009.12:27202871:A:G NC_000009.12:27202871:A:G (self)
ss12025270 NT_008413.15:27192870:A:G NC_000009.12:27202871:A:G (self)
ss15540620, ss22864599 NT_008413.16:27192869:A:G NC_000009.12:27202871:A:G (self)
ss811983, ss2108191, ss3221081, ss3936541, ss24374628, ss28507732, ss48424650, ss65735086, ss71640643, ss74801528, ss74891267, ss97789986, ss119361067, ss134170553, ss144038110, ss157348493, ss159718106, ss173994832 NT_008413.18:27192869:A:G NC_000009.12:27202871:A:G (self)
26659919, ss3919482525 NC_000009.11:27202869:A:T NC_000009.12:27202871:A:T (self)
Help

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

3 citations for rs639225
PMID Title Author Year Journal
23566851 Association study between of Tie2/angiopoietin-2 and VEGF/KDR pathway gene polymorphisms and vascular malformations. Zheng Q et al. 2013 Gene
27798027 Possible role of IL-6 and TIE2 gene polymorphisms in predicting the initial high transport status in patients with peritoneal dialysis: an observational study. Ding L et al. 2016 BMJ open
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
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.post761+d5e8e07