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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1621

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:116797552 (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
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.360391 (95392/264690, TOPMED)
G=0.339337 (49647/146306, ALFA)
G=0.366846 (51332/139928, GnomAD) (+ 18 more)
G=0.13189 (3727/28258, 14KJPN)
G=0.13337 (2235/16758, 8.3KJPN)
G=0.2954 (1892/6404, 1000G_30x)
G=0.2935 (1470/5008, 1000G)
G=0.3359 (1505/4480, Estonian)
G=0.3282 (1265/3854, ALSPAC)
G=0.3277 (1215/3708, TWINSUK)
G=0.1215 (356/2930, KOREAN)
G=0.3114 (588/1888, HapMap)
G=0.340 (339/998, GoNL)
G=0.128 (101/790, PRJEB37584)
G=0.405 (243/600, NorthernSweden)
G=0.388 (207/534, MGP)
G=0.189 (96/508, SGDP_PRJ)
G=0.366 (79/216, Qatari)
G=0.074 (16/216, Vietnamese)
G=0.25 (12/48, Siberian)
G=0.30 (12/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
MET : 3 Prime UTR Variant
Publications
7 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 146306 G=0.339337 A=0.660663, C=0.000000 0.11707 0.438396 0.444534 3
European Sub 125956 G=0.337531 A=0.662469, C=0.000000 0.114484 0.439423 0.446092 0
African Sub 6262 G=0.4676 A=0.5324, C=0.0000 0.222613 0.287448 0.489939 0
African Others Sub 222 G=0.536 A=0.464, C=0.000 0.27027 0.198198 0.531532 0
African American Sub 6040 G=0.4651 A=0.5349, C=0.0000 0.220861 0.290728 0.488411 1
Asian Sub 630 G=0.117 A=0.883, C=0.000 0.009524 0.774603 0.215873 0
East Asian Sub 498 G=0.118 A=0.882, C=0.000 0.012048 0.7751 0.212851 0
Other Asian Sub 132 G=0.114 A=0.886, C=0.000 0.0 0.772727 0.227273 1
Latin American 1 Sub 752 G=0.320 A=0.680, C=0.000 0.117021 0.476064 0.406915 1
Latin American 2 Sub 6324 G=0.2910 A=0.7090, C=0.0000 0.085389 0.503479 0.411132 0
South Asian Sub 184 G=0.207 A=0.793, C=0.000 0.021739 0.608696 0.369565 1
Other Sub 6198 G=0.3246 A=0.6754, C=0.0000 0.109067 0.459826 0.431107 1


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=0.360391 A=0.639609
Allele Frequency Aggregator Total Global 146306 G=0.339337 A=0.660663, C=0.000000
Allele Frequency Aggregator European Sub 125956 G=0.337531 A=0.662469, C=0.000000
Allele Frequency Aggregator Latin American 2 Sub 6324 G=0.2910 A=0.7090, C=0.0000
Allele Frequency Aggregator African Sub 6262 G=0.4676 A=0.5324, C=0.0000
Allele Frequency Aggregator Other Sub 6198 G=0.3246 A=0.6754, C=0.0000
Allele Frequency Aggregator Latin American 1 Sub 752 G=0.320 A=0.680, C=0.000
Allele Frequency Aggregator Asian Sub 630 G=0.117 A=0.883, C=0.000
Allele Frequency Aggregator South Asian Sub 184 G=0.207 A=0.793, C=0.000
gnomAD - Genomes Global Study-wide 139928 G=0.366846 A=0.633154
gnomAD - Genomes European Sub 75802 G=0.33810 A=0.66190
gnomAD - Genomes African Sub 41882 G=0.45633 A=0.54367
gnomAD - Genomes American Sub 13638 G=0.32732 A=0.67268
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.2894 A=0.7106
gnomAD - Genomes East Asian Sub 3128 G=0.1295 A=0.8705
gnomAD - Genomes Other Sub 2154 G=0.3528 A=0.6472
14KJPN JAPANESE Study-wide 28258 G=0.13189 A=0.86811
8.3KJPN JAPANESE Study-wide 16758 G=0.13337 A=0.86663
1000Genomes_30x Global Study-wide 6404 G=0.2954 A=0.7046
1000Genomes_30x African Sub 1786 G=0.4810 A=0.5190
1000Genomes_30x Europe Sub 1266 G=0.3199 A=0.6801
1000Genomes_30x South Asian Sub 1202 G=0.1414 A=0.8586
1000Genomes_30x East Asian Sub 1170 G=0.1402 A=0.8598
1000Genomes_30x American Sub 980 G=0.300 A=0.700
1000Genomes Global Study-wide 5008 G=0.2935 A=0.7065
1000Genomes African Sub 1322 G=0.4955 A=0.5045
1000Genomes East Asian Sub 1008 G=0.1409 A=0.8591
1000Genomes Europe Sub 1006 G=0.3191 A=0.6809
1000Genomes South Asian Sub 978 G=0.148 A=0.852
1000Genomes American Sub 694 G=0.298 A=0.702
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.3359 A=0.6641
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.3282 A=0.6718
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.3277 A=0.6723
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.1215 A=0.8785
HapMap Global Study-wide 1888 G=0.3114 A=0.6886
HapMap American Sub 768 G=0.255 A=0.745
HapMap African Sub 690 G=0.430 A=0.570
HapMap Asian Sub 254 G=0.146 A=0.854
HapMap Europe Sub 176 G=0.330 A=0.670
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.340 A=0.660
CNV burdens in cranial meningiomas Global Study-wide 790 G=0.128 A=0.872
CNV burdens in cranial meningiomas CRM Sub 790 G=0.128 A=0.872
Northern Sweden ACPOP Study-wide 600 G=0.405 A=0.595
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.388 A=0.612
SGDP_PRJ Global Study-wide 508 G=0.189 A=0.811
Qatari Global Study-wide 216 G=0.366 A=0.634
A Vietnamese Genetic Variation Database Global Study-wide 216 G=0.074 A=0.926
Siberian Global Study-wide 48 G=0.25 A=0.75
The Danish reference pan genome Danish Study-wide 40 G=0.30 A=0.70
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 7 NC_000007.14:g.116797552G>A
GRCh38.p14 chr 7 NC_000007.14:g.116797552G>C
GRCh37.p13 chr 7 NC_000007.13:g.116437606G>A
GRCh37.p13 chr 7 NC_000007.13:g.116437606G>C
MET RefSeqGene (LRG_662) NG_008996.1:g.130148G>A
MET RefSeqGene (LRG_662) NG_008996.1:g.130148G>C
Gene: MET, MET proto-oncogene, receptor tyrosine kinase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MET transcript variant 1 NM_001127500.3:c.*1428= N/A 3 Prime UTR Variant
MET transcript variant 2 NM_000245.4:c.*1428= N/A 3 Prime UTR Variant
MET transcript variant 4 NM_001324402.2:c.*1428= N/A 3 Prime UTR Variant
MET transcript variant 3 NM_001324401.3:c. N/A Genic Downstream Transcript Variant
MET transcript variant X1 XM_011516223.2:c.*1428= N/A 3 Prime UTR Variant
MET transcript variant X2 XM_047420400.1:c. N/A Genic Downstream 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.

Allele: A (allele ID: 301651 )
ClinVar Accession Disease Names Clinical Significance
RCV000300643.3 Renal cell carcinoma, papillary, 1 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 G= A C
GRCh38.p14 chr 7 NC_000007.14:g.116797552= NC_000007.14:g.116797552G>A NC_000007.14:g.116797552G>C
GRCh37.p13 chr 7 NC_000007.13:g.116437606= NC_000007.13:g.116437606G>A NC_000007.13:g.116437606G>C
MET RefSeqGene (LRG_662) NG_008996.1:g.130148= NG_008996.1:g.130148G>A NG_008996.1:g.130148G>C
MET transcript variant 2 NM_000245.4:c.*1428= NM_000245.4:c.*1428G>A NM_000245.4:c.*1428G>C
MET transcript variant 2 NM_000245.3:c.*1428= NM_000245.3:c.*1428G>A NM_000245.3:c.*1428G>C
MET transcript variant 2 NM_000245.2:c.*1428= NM_000245.2:c.*1428G>A NM_000245.2:c.*1428G>C
MET transcript variant 1 NM_001127500.3:c.*1428= NM_001127500.3:c.*1428G>A NM_001127500.3:c.*1428G>C
MET transcript variant 1 NM_001127500.2:c.*1428= NM_001127500.2:c.*1428G>A NM_001127500.2:c.*1428G>C
MET transcript variant 1 NM_001127500.1:c.*1428= NM_001127500.1:c.*1428G>A NM_001127500.1:c.*1428G>C
MET transcript variant 4 NM_001324402.2:c.*1428= NM_001324402.2:c.*1428G>A NM_001324402.2:c.*1428G>C
MET transcript variant 4 NM_001324402.1:c.*1428= NM_001324402.1:c.*1428G>A NM_001324402.1:c.*1428G>C
MET transcript variant X1 XM_011516223.2:c.*1428= XM_011516223.2:c.*1428G>A XM_011516223.2:c.*1428G>C
MET transcript variant X1 XM_011516223.1:c.*1428= XM_011516223.1:c.*1428G>A XM_011516223.1:c.*1428G>C
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#.

122 SubSNP, 21 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 WIAF ss1646 Sep 19, 2000 (36)
2 CGAP-GAI ss13399 Sep 19, 2000 (52)
3 KWOK ss47258 May 07, 2000 (76)
4 LEE ss1525984 Oct 04, 2000 (86)
5 LEE ss4394729 May 29, 2002 (106)
6 LEE ss4416460 May 29, 2002 (106)
7 YUSUKE ss4921626 Aug 28, 2002 (108)
8 SC_SNP ss13419993 Dec 05, 2003 (120)
9 WUGSC_SSAHASNP ss14539744 Dec 05, 2003 (120)
10 CGAP-GAI ss16253689 Feb 28, 2004 (121)
11 CSHL-HAPMAP ss17151632 Feb 27, 2004 (120)
12 SSAHASNP ss22528075 Apr 05, 2004 (121)
13 SSAHASNP ss22901443 Apr 05, 2004 (121)
14 ILLUMINA ss65737558 Oct 14, 2006 (127)
15 ILLUMINA ss74888863 Dec 07, 2007 (129)
16 BCMHGSC_JDW ss93752172 Mar 25, 2008 (129)
17 HUMANGENOME_JCVI ss98180473 Feb 04, 2009 (130)
18 BGI ss105566880 Feb 04, 2009 (130)
19 1000GENOMES ss112470678 Jan 25, 2009 (130)
20 1000GENOMES ss114314577 Jan 25, 2009 (130)
21 ILLUMINA-UK ss116265925 Feb 14, 2009 (130)
22 KRIBB_YJKIM ss119337027 Dec 01, 2009 (131)
23 ENSEMBL ss139883888 Dec 01, 2009 (131)
24 ENSEMBL ss142840191 Dec 01, 2009 (131)
25 GMI ss155387002 Dec 01, 2009 (131)
26 ILLUMINA ss160379277 Dec 01, 2009 (131)
27 COMPLETE_GENOMICS ss162648098 Jul 04, 2010 (132)
28 COMPLETE_GENOMICS ss165220113 Jul 04, 2010 (132)
29 ILLUMINA ss172603840 Jul 04, 2010 (132)
30 BUSHMAN ss198141724 Jul 04, 2010 (132)
31 BCM-HGSC-SUB ss207979584 Jul 04, 2010 (132)
32 1000GENOMES ss223286474 Jul 14, 2010 (132)
33 1000GENOMES ss234135043 Jul 15, 2010 (132)
34 1000GENOMES ss241056233 Jul 15, 2010 (132)
35 BL ss254630251 May 09, 2011 (134)
36 GMI ss279497883 May 04, 2012 (137)
37 PJP ss293951499 May 09, 2011 (134)
38 ILLUMINA ss480054280 May 04, 2012 (137)
39 ILLUMINA ss480062898 May 04, 2012 (137)
40 ILLUMINA ss480734411 Sep 08, 2015 (146)
41 ILLUMINA ss484825060 May 04, 2012 (137)
42 ILLUMINA ss536902012 Sep 08, 2015 (146)
43 TISHKOFF ss560254154 Apr 25, 2013 (138)
44 SSMP ss654660053 Apr 25, 2013 (138)
45 ILLUMINA ss778440928 Sep 08, 2015 (146)
46 ILLUMINA ss782859092 Sep 08, 2015 (146)
47 ILLUMINA ss783823477 Sep 08, 2015 (146)
48 ILLUMINA ss832113090 Sep 08, 2015 (146)
49 ILLUMINA ss833896463 Sep 08, 2015 (146)
50 EVA-GONL ss984709327 Aug 21, 2014 (142)
51 JMKIDD_LAB ss1074916809 Aug 21, 2014 (142)
52 1000GENOMES ss1326808022 Aug 21, 2014 (142)
53 DDI ss1431255530 Apr 01, 2015 (144)
54 EVA_GENOME_DK ss1582369396 Apr 01, 2015 (144)
55 EVA_DECODE ss1594294077 Apr 01, 2015 (144)
56 EVA_UK10K_ALSPAC ss1619040755 Apr 01, 2015 (144)
57 EVA_UK10K_TWINSUK ss1662034788 Apr 01, 2015 (144)
58 EVA_MGP ss1711177765 Apr 01, 2015 (144)
59 EVA_SVP ss1712982020 Apr 01, 2015 (144)
60 ILLUMINA ss1752660095 Sep 08, 2015 (146)
61 HAMMER_LAB ss1805183701 Sep 08, 2015 (146)
62 WEILL_CORNELL_DGM ss1927971213 Feb 12, 2016 (147)
63 GENOMED ss1970796355 Jul 19, 2016 (147)
64 JJLAB ss2024669853 Sep 14, 2016 (149)
65 USC_VALOUEV ss2152893168 Dec 20, 2016 (150)
66 HUMAN_LONGEVITY ss2297165967 Dec 20, 2016 (150)
67 SYSTEMSBIOZJU ss2626824345 Nov 08, 2017 (151)
68 ILLUMINA ss2634651577 Nov 08, 2017 (151)
69 GRF ss2708608183 Nov 08, 2017 (151)
70 GNOMAD ss2858158608 Nov 08, 2017 (151)
71 SWEGEN ss3001902930 Nov 08, 2017 (151)
72 BIOINF_KMB_FNS_UNIBA ss3026125610 Nov 08, 2017 (151)
73 CSHL ss3347807022 Nov 08, 2017 (151)
74 ILLUMINA ss3629897545 Oct 12, 2018 (152)
75 ILLUMINA ss3632556297 Oct 12, 2018 (152)
76 ILLUMINA ss3633475639 Oct 12, 2018 (152)
77 ILLUMINA ss3634201192 Oct 12, 2018 (152)
78 ILLUMINA ss3635138377 Oct 12, 2018 (152)
79 ILLUMINA ss3635880658 Oct 12, 2018 (152)
80 ILLUMINA ss3636872715 Oct 12, 2018 (152)
81 ILLUMINA ss3637633702 Oct 12, 2018 (152)
82 ILLUMINA ss3638719509 Oct 12, 2018 (152)
83 ILLUMINA ss3640845669 Oct 12, 2018 (152)
84 ILLUMINA ss3643653704 Oct 12, 2018 (152)
85 OMUKHERJEE_ADBS ss3646362744 Oct 12, 2018 (152)
86 URBANLAB ss3648735432 Oct 12, 2018 (152)
87 EGCUT_WGS ss3669653752 Jul 13, 2019 (153)
88 EVA_DECODE ss3720532024 Jul 13, 2019 (153)
89 ACPOP ss3735000663 Jul 13, 2019 (153)
90 ILLUMINA ss3745438381 Jul 13, 2019 (153)
91 EVA ss3767062007 Jul 13, 2019 (153)
92 ILLUMINA ss3772931146 Jul 13, 2019 (153)
93 PACBIO ss3785936375 Jul 13, 2019 (153)
94 PACBIO ss3791218696 Jul 13, 2019 (153)
95 PACBIO ss3796098806 Jul 13, 2019 (153)
96 KHV_HUMAN_GENOMES ss3810233993 Jul 13, 2019 (153)
97 EVA ss3825727425 Apr 26, 2020 (154)
98 EVA ss3830779101 Apr 26, 2020 (154)
99 EVA ss3838888758 Apr 26, 2020 (154)
100 EVA ss3844344741 Apr 26, 2020 (154)
101 SGDP_PRJ ss3868228652 Apr 26, 2020 (154)
102 KRGDB ss3915558276 Apr 26, 2020 (154)
103 FSA-LAB ss3984378510 Apr 26, 2021 (155)
104 FSA-LAB ss3984378511 Apr 26, 2021 (155)
105 EVA ss3984594101 Apr 26, 2021 (155)
106 EVA ss3986041132 Apr 26, 2021 (155)
107 TOPMED ss4760784708 Apr 26, 2021 (155)
108 TOMMO_GENOMICS ss5185213864 Apr 26, 2021 (155)
109 1000G_HIGH_COVERAGE ss5274451802 Oct 13, 2022 (156)
110 EVA ss5315274173 Oct 13, 2022 (156)
111 EVA ss5376254880 Oct 13, 2022 (156)
112 HUGCELL_USP ss5471367000 Oct 13, 2022 (156)
113 EVA ss5509102224 Oct 13, 2022 (156)
114 1000G_HIGH_COVERAGE ss5563453139 Oct 13, 2022 (156)
115 SANFORD_IMAGENETICS ss5643824432 Oct 13, 2022 (156)
116 TOMMO_GENOMICS ss5726098914 Oct 13, 2022 (156)
117 EVA ss5799735088 Oct 13, 2022 (156)
118 YY_MCH ss5809024419 Oct 13, 2022 (156)
119 EVA ss5823415672 Oct 13, 2022 (156)
120 EVA ss5856063999 Oct 13, 2022 (156)
121 EVA ss5860554136 Oct 13, 2022 (156)
122 EVA ss5973012892 Oct 13, 2022 (156)
123 1000Genomes NC_000007.13 - 116437606 Oct 12, 2018 (152)
124 1000Genomes_30x NC_000007.14 - 116797552 Oct 13, 2022 (156)
125 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 116437606 Oct 12, 2018 (152)
126 Genetic variation in the Estonian population NC_000007.13 - 116437606 Oct 12, 2018 (152)
127 The Danish reference pan genome NC_000007.13 - 116437606 Apr 26, 2020 (154)
128 gnomAD - Genomes NC_000007.14 - 116797552 Apr 26, 2021 (155)
129 Genome of the Netherlands Release 5 NC_000007.13 - 116437606 Apr 26, 2020 (154)
130 HapMap NC_000007.14 - 116797552 Apr 26, 2020 (154)
131 KOREAN population from KRGDB NC_000007.13 - 116437606 Apr 26, 2020 (154)
132 Medical Genome Project healthy controls from Spanish population NC_000007.13 - 116437606 Apr 26, 2020 (154)
133 Northern Sweden NC_000007.13 - 116437606 Jul 13, 2019 (153)
134 CNV burdens in cranial meningiomas NC_000007.13 - 116437606 Apr 26, 2021 (155)
135 Qatari NC_000007.13 - 116437606 Apr 26, 2020 (154)
136 SGDP_PRJ NC_000007.13 - 116437606 Apr 26, 2020 (154)
137 Siberian NC_000007.13 - 116437606 Apr 26, 2020 (154)
138 8.3KJPN NC_000007.13 - 116437606 Apr 26, 2021 (155)
139 14KJPN NC_000007.14 - 116797552 Oct 13, 2022 (156)
140 TopMed NC_000007.14 - 116797552 Apr 26, 2021 (155)
141 UK 10K study - Twins NC_000007.13 - 116437606 Oct 12, 2018 (152)
142 A Vietnamese Genetic Variation Database NC_000007.13 - 116437606 Jul 13, 2019 (153)
143 ALFA NC_000007.14 - 116797552 Apr 26, 2021 (155)
144 ClinVar RCV000300643.3 Oct 13, 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)
rs3173931 Jul 03, 2002 (106)
rs3735628 Oct 08, 2002 (108)
rs9640773 Feb 27, 2004 (120)
rs10334576 Feb 27, 2004 (120)
rs11552028 Apr 05, 2004 (121)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss93752172, ss112470678, ss114314577, ss116265925, ss162648098, ss165220113, ss198141724, ss207979584, ss254630251, ss279497883, ss293951499, ss480054280, ss1594294077, ss1712982020, ss3643653704 NC_000007.12:116224841:G:A NC_000007.14:116797551:G:A (self)
38839006, 21607438, 15392000, 8534335, 9642252, 22735670, 293525, 8285528, 143529, 10013143, 20245632, 5409522, 43183171, 21607438, 4814129, ss223286474, ss234135043, ss241056233, ss480062898, ss480734411, ss484825060, ss536902012, ss560254154, ss654660053, ss778440928, ss782859092, ss783823477, ss832113090, ss833896463, ss984709327, ss1074916809, ss1326808022, ss1431255530, ss1582369396, ss1619040755, ss1662034788, ss1711177765, ss1752660095, ss1805183701, ss1927971213, ss1970796355, ss2024669853, ss2152893168, ss2626824345, ss2634651577, ss2708608183, ss2858158608, ss3001902930, ss3347807022, ss3629897545, ss3632556297, ss3633475639, ss3634201192, ss3635138377, ss3635880658, ss3636872715, ss3637633702, ss3638719509, ss3640845669, ss3646362744, ss3669653752, ss3735000663, ss3745438381, ss3767062007, ss3772931146, ss3785936375, ss3791218696, ss3796098806, ss3825727425, ss3830779101, ss3838888758, ss3868228652, ss3915558276, ss3984378510, ss3984378511, ss3984594101, ss3986041132, ss5185213864, ss5315274173, ss5376254880, ss5509102224, ss5643824432, ss5799735088, ss5823415672, ss5973012892 NC_000007.13:116437605:G:A NC_000007.14:116797551:G:A (self)
RCV000300643.3, 50979074, 274195092, 3476217, 59936018, 598162267, 1242508084, ss2297165967, ss3026125610, ss3648735432, ss3720532024, ss3810233993, ss3844344741, ss4760784708, ss5274451802, ss5471367000, ss5563453139, ss5726098914, ss5809024419, ss5856063999, ss5860554136 NC_000007.14:116797551:G:A NC_000007.14:116797551:G:A (self)
ss13419993 NT_007933.12:41614295:G:A NC_000007.14:116797551:G:A (self)
ss14539744, ss17151632, ss22528075, ss22901443 NT_007933.13:41614295:G:A NC_000007.14:116797551:G:A (self)
ss1646, ss13399, ss47258, ss1525984, ss4394729, ss4416460, ss4921626, ss16253689, ss65737558, ss74888863, ss98180473, ss105566880, ss119337027, ss139883888, ss142840191, ss155387002, ss160379277, ss172603840 NT_007933.15:54470448:G:A NC_000007.14:116797551:G:A (self)
1242508084 NC_000007.14:116797551:G:C NC_000007.14:116797551: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.

7 citations for rs1621
PMID Title Author Year Journal
19002214 MET and autism susceptibility: family and case-control studies. Sousa I et al. 2009 European journal of human genetics
19458495 Comprehensive analysis of the impact of SNPs and CNVs on human microRNAs and their regulatory genes. Duan S et al. 2009 RNA biology
20011629 The hepatocyte growth factor receptor (MET) gene is not associated with refractive error and ocular biometrics in a Caucasian population. Schache M et al. 2009 Molecular vision
20416453 c-MET pathway involvement in chronic rhinosinusitis: a genetic association analysis. Castano R et al. 2010 Otolaryngology--head and neck surgery
23613720 Lymphatic and angiogenic candidate genes predict the development of secondary lymphedema following breast cancer surgery. Miaskowski C et al. 2013 PloS one
25106527 Genome-wide association study combined with biological context can reveal more disease-related SNPs altering microRNA target seed sites. Wu D et al. 2014 BMC genomics
27576168 Preliminary evidence for association of genetic variants in pri-miR-34b/c and abnormal miR-34c expression with attention deficit and hyperactivity disorder. Garcia-Martínez I et al. 2016 Translational psychiatry
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.post825+45319f0