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dbSNP Short Genetic Variations

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.

rs2366928

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr5:90728918 (GRCh38.p12) 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
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.24995 (61050/244246, GnomAD)
G=0.23079 (28980/125568, TOPMED)
G=0.25162 (30164/119880, ExAC) (+ 6 more)
G=0.2434 (7528/30928, GnomAD)
G=0.2470 (2923/11832, GO-ESP)
G=0.171 (856/5008, 1000G)
G=0.332 (1487/4480, Estonian)
G=0.307 (1185/3854, ALSPAC)
G=0.324 (1200/3708, TWINSUK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ADGRV1 : Missense Variant
LOC105379077 : Intron Variant
Publications
2 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.p12 chr 5 NC_000005.10:g.90728918G>A
GRCh37.p13 chr 5 NC_000005.9:g.90024735G>A
ADGRV1 RefSeqGene NG_007083.2:g.204575G>A
Gene: ADGRV1, adhesion G protein-coupled receptor V1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ADGRV1 transcript variant 1 NM_032119.3:c.10411G>A E [GAA] > K [AAA] Coding Sequence Variant
adhesion G-protein coupled receptor V1 precursor NP_115495.3:p.Glu3471Lys E (Glu) > K (Lys) Missense Variant
ADGRV1 transcript variant 2 NR_003149.1:n.10424G>A N/A Non Coding Transcript Variant
ADGRV1 transcript variant X3 XM_017009965.1:c.10429G>A E [GAA] > K [AAA] Coding Sequence Variant
G-protein coupled receptor 98 isoform X3 XP_016865454.1:p.Glu347...

XP_016865454.1:p.Glu3477Lys

E (Glu) > K (Lys) Missense Variant
ADGRV1 transcript variant X5 XM_017009967.1:c.10336G>A E [GAA] > K [AAA] Coding Sequence Variant
G-protein coupled receptor 98 isoform X5 XP_016865456.1:p.Glu344...

XP_016865456.1:p.Glu3446Lys

E (Glu) > K (Lys) Missense Variant
ADGRV1 transcript variant X10 XM_017009972.1:c.3550G>A E [GAA] > K [AAA] Coding Sequence Variant
G-protein coupled receptor 98 isoform X10 XP_016865461.1:p.Glu118...

XP_016865461.1:p.Glu1184Lys

E (Glu) > K (Lys) Missense Variant
ADGRV1 transcript variant X11 XM_017009973.1:c.3529G>A E [GAA] > K [AAA] Coding Sequence Variant
G-protein coupled receptor 98 isoform X11 XP_016865462.1:p.Glu117...

XP_016865462.1:p.Glu1177Lys

E (Glu) > K (Lys) Missense Variant
ADGRV1 transcript variant X1 XM_017009963.2:c.10432G>A E [GAA] > K [AAA] Coding Sequence Variant
G-protein coupled receptor 98 isoform X1 XP_016865452.1:p.Glu347...

XP_016865452.1:p.Glu3478Lys

E (Glu) > K (Lys) Missense Variant
ADGRV1 transcript variant X2 XM_017009964.2:c.10429G>A E [GAA] > K [AAA] Coding Sequence Variant
G-protein coupled receptor 98 isoform X2 XP_016865453.1:p.Glu347...

XP_016865453.1:p.Glu3477Lys

E (Glu) > K (Lys) Missense Variant
ADGRV1 transcript variant X4 XM_017009966.2:c.10351G>A E [GAA] > K [AAA] Coding Sequence Variant
G-protein coupled receptor 98 isoform X4 XP_016865455.1:p.Glu345...

XP_016865455.1:p.Glu3451Lys

E (Glu) > K (Lys) Missense Variant
ADGRV1 transcript variant X6 XM_017009968.2:c.10432G>A E [GAA] > K [AAA] Coding Sequence Variant
G-protein coupled receptor 98 isoform X6 XP_016865457.1:p.Glu347...

XP_016865457.1:p.Glu3478Lys

E (Glu) > K (Lys) Missense Variant
ADGRV1 transcript variant X7 XM_017009969.2:c.10432G>A E [GAA] > K [AAA] Coding Sequence Variant
G-protein coupled receptor 98 isoform X7 XP_016865458.1:p.Glu347...

XP_016865458.1:p.Glu3478Lys

E (Glu) > K (Lys) Missense Variant
ADGRV1 transcript variant X8 XM_017009970.2:c.10432G>A E [GAA] > K [AAA] Coding Sequence Variant
G-protein coupled receptor 98 isoform X8 XP_016865459.1:p.Glu347...

XP_016865459.1:p.Glu3478Lys

E (Glu) > K (Lys) Missense Variant
ADGRV1 transcript variant X9 XM_017009971.2:c.10432G>A E [GAA] > K [AAA] Coding Sequence Variant
G-protein coupled receptor 98 isoform X9 XP_016865460.1:p.Glu347...

XP_016865460.1:p.Glu3478Lys

E (Glu) > K (Lys) Missense Variant
ADGRV1 transcript variant X12 XM_017009974.2:c.10432G>A E [GAA] > K [AAA] Coding Sequence Variant
G-protein coupled receptor 98 isoform X12 XP_016865463.1:p.Glu347...

XP_016865463.1:p.Glu3478Lys

E (Glu) > K (Lys) Missense Variant
Gene: LOC105379077, uncharacterized LOC105379077 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC105379077 transcript XR_001742802.1:n. N/A Intron 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: 55413 )
ClinVar Accession Disease Names Clinical Significance
RCV000039504.7 not specified Benign
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
gnomAD - Exomes Global Study-wide 244246 G=0.24995 A=0.75005
gnomAD - Exomes European Sub 132718 G=0.31083 A=0.68917
gnomAD - Exomes Asian Sub 47668 G=0.1963 A=0.8037
gnomAD - Exomes American Sub 33392 G=0.1470 A=0.8530
gnomAD - Exomes African Sub 15252 G=0.0902 A=0.9098
gnomAD - Exomes Ashkenazi Jewish Sub 9778 G=0.279 A=0.721
gnomAD - Exomes Other Sub 5438 G=0.263 A=0.737
TopMed Global Study-wide 125568 G=0.23079 A=0.76921
ExAC Global Study-wide 119880 G=0.25162 A=0.74838
ExAC Europe Sub 72740 G=0.3108 A=0.6892
ExAC Asian Sub 24980 G=0.1924 A=0.8076
ExAC American Sub 11494 G=0.1424 A=0.8576
ExAC African Sub 9772 G=0.087 A=0.913
ExAC Other Sub 894 G=0.29 A=0.71
gnomAD - Genomes Global Study-wide 30928 G=0.2434 A=0.7566
gnomAD - Genomes European Sub 18472 G=0.3167 A=0.6833
gnomAD - Genomes African Sub 8722 G=0.097 A=0.903
gnomAD - Genomes East Asian Sub 1616 G=0.209 A=0.791
gnomAD - Genomes Other Sub 980 G=0.26 A=0.74
gnomAD - Genomes American Sub 836 G=0.18 A=0.82
gnomAD - Genomes Ashkenazi Jewish Sub 302 G=0.27 A=0.73
GO Exome Sequencing Project Global Study-wide 11832 G=0.2470 A=0.7530
GO Exome Sequencing Project European American Sub 8172 G=0.314 A=0.686
GO Exome Sequencing Project African American Sub 3660 G=0.096 A=0.904
1000Genomes Global Study-wide 5008 G=0.171 A=0.829
1000Genomes African Sub 1322 G=0.059 A=0.941
1000Genomes East Asian Sub 1008 G=0.185 A=0.815
1000Genomes Europe Sub 1006 G=0.302 A=0.698
1000Genomes South Asian Sub 978 G=0.17 A=0.83
1000Genomes American Sub 694 G=0.17 A=0.83
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.332 A=0.668
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.307 A=0.693
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.324 A=0.676
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 Note
GRCh38.p12 chr 5 NC_000005.10:g.90728918G= NC_000005.10:g.90728918G>A
GRCh37.p13 chr 5 NC_000005.9:g.90024735G= NC_000005.9:g.90024735G>A
ADGRV1 RefSeqGene NG_007083.2:g.204575G= NG_007083.2:g.204575G>A
ADGRV1 transcript variant 1 NM_032119.3:c.10411G= NM_032119.3:c.10411G>A
ADGRV1 transcript variant 2 NR_003149.1:n.10424G= NR_003149.1:n.10424G>A
ADGRV1 transcript variant X1 XM_017009963.2:c.10432G= XM_017009963.2:c.10432G>A
ADGRV1 transcript variant X2 XM_017009964.2:c.10429G= XM_017009964.2:c.10429G>A
ADGRV1 transcript variant X4 XM_017009966.2:c.10351G= XM_017009966.2:c.10351G>A
ADGRV1 transcript variant X6 XM_017009968.2:c.10432G= XM_017009968.2:c.10432G>A
ADGRV1 transcript variant X7 XM_017009969.2:c.10432G= XM_017009969.2:c.10432G>A
ADGRV1 transcript variant X9 XM_017009971.2:c.10432G= XM_017009971.2:c.10432G>A
ADGRV1 transcript variant X8 XM_017009970.2:c.10432G= XM_017009970.2:c.10432G>A
ADGRV1 transcript variant X12 XM_017009974.2:c.10432G= XM_017009974.2:c.10432G>A
ADGRV1 transcript variant X3 XM_017009965.1:c.10429G= XM_017009965.1:c.10429G>A
ADGRV1 transcript variant X5 XM_017009967.1:c.10336G= XM_017009967.1:c.10336G>A
ADGRV1 transcript variant X11 XM_017009973.1:c.3529G= XM_017009973.1:c.3529G>A
ADGRV1 transcript variant X10 XM_017009972.1:c.3550G= XM_017009972.1:c.3550G>A
adhesion G-protein coupled receptor V1 precursor NP_115495.3:p.Glu3471= NP_115495.3:p.Glu3471Lys
G-protein coupled receptor 98 isoform X1 XP_016865452.1:p.Glu3478= XP_016865452.1:p.Glu347...

XP_016865452.1:p.Glu3478Lys

G-protein coupled receptor 98 isoform X2 XP_016865453.1:p.Glu3477= XP_016865453.1:p.Glu347...

XP_016865453.1:p.Glu3477Lys

G-protein coupled receptor 98 isoform X4 XP_016865455.1:p.Glu3451= XP_016865455.1:p.Glu345...

XP_016865455.1:p.Glu3451Lys

G-protein coupled receptor 98 isoform X6 XP_016865457.1:p.Glu3478= XP_016865457.1:p.Glu347...

XP_016865457.1:p.Glu3478Lys

G-protein coupled receptor 98 isoform X7 XP_016865458.1:p.Glu3478= XP_016865458.1:p.Glu347...

XP_016865458.1:p.Glu3478Lys

G-protein coupled receptor 98 isoform X9 XP_016865460.1:p.Glu3478= XP_016865460.1:p.Glu347...

XP_016865460.1:p.Glu3478Lys

G-protein coupled receptor 98 isoform X8 XP_016865459.1:p.Glu3478= XP_016865459.1:p.Glu347...

XP_016865459.1:p.Glu3478Lys

G-protein coupled receptor 98 isoform X12 XP_016865463.1:p.Glu3478= XP_016865463.1:p.Glu347...

XP_016865463.1:p.Glu3478Lys

G-protein coupled receptor 98 isoform X3 XP_016865454.1:p.Glu3477= XP_016865454.1:p.Glu347...

XP_016865454.1:p.Glu3477Lys

G-protein coupled receptor 98 isoform X5 XP_016865456.1:p.Glu3446= XP_016865456.1:p.Glu344...

XP_016865456.1:p.Glu3446Lys

G-protein coupled receptor 98 isoform X11 XP_016865462.1:p.Glu1177= XP_016865462.1:p.Glu117...

XP_016865462.1:p.Glu1177Lys

G-protein coupled receptor 98 isoform X10 XP_016865461.1:p.Glu1184= XP_016865461.1:p.Glu118...

XP_016865461.1:p.Glu1184Lys

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, 9 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss3324683 Sep 28, 2001 (100)
2 WI_SSAHASNP ss11701502 Jul 11, 2003 (116)
3 CSHL-HAPMAP ss17849447 Feb 27, 2004 (120)
4 SSAHASNP ss22229956 Apr 05, 2004 (121)
5 PERLEGEN ss24369854 Sep 20, 2004 (123)
6 ILLUMINA ss65776303 Oct 16, 2006 (127)
7 ILLUMINA ss66807112 Dec 02, 2006 (127)
8 ILLUMINA ss67249520 Dec 02, 2006 (127)
9 ILLUMINA ss67647046 Dec 02, 2006 (127)
10 PERLEGEN ss68941921 May 18, 2007 (127)
11 ILLUMINA ss70727853 May 25, 2008 (130)
12 ILLUMINA ss71296957 May 18, 2007 (127)
13 AFFY ss74811845 Aug 16, 2007 (128)
14 ILLUMINA ss75828492 Dec 07, 2007 (129)
15 SI_EXO ss76884047 Dec 07, 2007 (129)
16 ILLUMINA ss79131800 Dec 15, 2007 (130)
17 KRIBB_YJKIM ss84042143 Dec 15, 2007 (130)
18 HUMANGENOME_JCVI ss98743387 Feb 05, 2009 (130)
19 BGI ss105936559 Feb 05, 2009 (130)
20 1000GENOMES ss109209347 Jan 23, 2009 (130)
21 1000GENOMES ss112172513 Jan 25, 2009 (130)
22 ILLUMINA-UK ss116708352 Feb 14, 2009 (130)
23 ILLUMINA ss122016270 Dec 01, 2009 (131)
24 ENSEMBL ss143257001 Dec 01, 2009 (131)
25 ILLUMINA ss153907170 Dec 01, 2009 (131)
26 GMI ss155723852 Dec 01, 2009 (131)
27 ILLUMINA ss159385029 Dec 01, 2009 (131)
28 ILLUMINA ss160540457 Dec 01, 2009 (131)
29 COMPLETE_GENOMICS ss165465972 Jul 04, 2010 (132)
30 COMPLETE_GENOMICS ss166797267 Jul 04, 2010 (132)
31 ILLUMINA ss171221422 Jul 04, 2010 (132)
32 ILLUMINA ss173310576 Jul 04, 2010 (132)
33 BUSHMAN ss200517313 Jul 04, 2010 (132)
34 BCM-HGSC-SUB ss206756730 Jul 04, 2010 (132)
35 1000GENOMES ss221801363 Jul 14, 2010 (132)
36 1000GENOMES ss233033996 Jul 14, 2010 (132)
37 1000GENOMES ss240186310 Jul 15, 2010 (132)
38 LMM-PCPGM ss244317116 Jun 15, 2010 (132)
39 BL ss253613854 May 09, 2011 (134)
40 GMI ss278377638 May 04, 2012 (137)
41 GMI ss285215413 Apr 25, 2013 (138)
42 PJP ss293400339 May 09, 2011 (134)
43 ILLUMINA ss480547009 May 04, 2012 (137)
44 ILLUMINA ss480561062 May 04, 2012 (137)
45 ILLUMINA ss481376247 Sep 08, 2015 (146)
46 ILLUMINA ss485069306 May 04, 2012 (137)
47 1000GENOMES ss490906887 May 04, 2012 (137)
48 EXOME_CHIP ss491368721 May 04, 2012 (137)
49 CLINSEQ_SNP ss491869687 May 04, 2012 (137)
50 ILLUMINA ss537082696 Sep 08, 2015 (146)
51 TISHKOFF ss558534792 Apr 25, 2013 (138)
52 SSMP ss652414372 Apr 25, 2013 (138)
53 NHLBI-ESP ss712648954 Apr 25, 2013 (138)
54 ILLUMINA ss779039041 Sep 08, 2015 (146)
55 ILLUMINA ss780838798 Sep 08, 2015 (146)
56 ILLUMINA ss782980925 Sep 08, 2015 (146)
57 ILLUMINA ss783522003 Sep 08, 2015 (146)
58 ILLUMINA ss783941955 Sep 08, 2015 (146)
59 ILLUMINA ss825462318 Apr 01, 2015 (144)
60 ILLUMINA ss832237458 Sep 08, 2015 (146)
61 ILLUMINA ss834501853 Sep 08, 2015 (146)
62 JMKIDD_LAB ss974456465 Aug 21, 2014 (142)
63 EVA-GONL ss981810230 Aug 21, 2014 (142)
64 JMKIDD_LAB ss1067469611 Aug 21, 2014 (142)
65 JMKIDD_LAB ss1072810301 Aug 21, 2014 (142)
66 1000GENOMES ss1316020315 Aug 21, 2014 (142)
67 HAMMER_LAB ss1397419757 Sep 08, 2015 (146)
68 DDI ss1430415750 Apr 01, 2015 (144)
69 EVA_GENOME_DK ss1581230247 Apr 01, 2015 (144)
70 EVA_FINRISK ss1584039782 Apr 01, 2015 (144)
71 EVA_DECODE ss1591327774 Apr 01, 2015 (144)
72 EVA_UK10K_ALSPAC ss1613377890 Apr 01, 2015 (144)
73 EVA_UK10K_TWINSUK ss1656371923 Apr 01, 2015 (144)
74 EVA_EXAC ss1687880846 Apr 01, 2015 (144)
75 EVA_MGP ss1711092003 Apr 01, 2015 (144)
76 EVA_SVP ss1712780660 Apr 01, 2015 (144)
77 ILLUMINA ss1752589224 Sep 08, 2015 (146)
78 ILLUMINA ss1752589225 Sep 08, 2015 (146)
79 HAMMER_LAB ss1803825505 Sep 08, 2015 (146)
80 ILLUMINA ss1917791848 Feb 12, 2016 (147)
81 WEILL_CORNELL_DGM ss1925062108 Feb 12, 2016 (147)
82 ILLUMINA ss1946149407 Feb 12, 2016 (147)
83 ILLUMINA ss1958803027 Feb 12, 2016 (147)
84 GENOMED ss1970142407 Jul 19, 2016 (147)
85 JJLAB ss2023137854 Sep 14, 2016 (149)
86 USC_VALOUEV ss2151294422 Dec 20, 2016 (150)
87 HUMAN_LONGEVITY ss2275635532 Dec 20, 2016 (150)
88 TOPMED ss2443884133 Dec 20, 2016 (150)
89 SYSTEMSBIOZJU ss2626065076 Nov 08, 2017 (151)
90 ILLUMINA ss2634306654 Nov 08, 2017 (151)
91 GRF ss2706848963 Nov 08, 2017 (151)
92 GNOMAD ss2735113901 Nov 08, 2017 (151)
93 GNOMAD ss2747418499 Nov 08, 2017 (151)
94 GNOMAD ss2827330771 Nov 08, 2017 (151)
95 AFFY ss2985326605 Nov 08, 2017 (151)
96 AFFY ss2985960319 Nov 08, 2017 (151)
97 SWEGEN ss2997315850 Nov 08, 2017 (151)
98 ILLUMINA ss3022506850 Nov 08, 2017 (151)
99 BIOINF_KMB_FNS_UNIBA ss3025353786 Nov 08, 2017 (151)
100 CSHL ss3346492856 Nov 08, 2017 (151)
101 TOPMED ss3470738991 Nov 08, 2017 (151)
102 ILLUMINA ss3629282915 Oct 12, 2018 (152)
103 ILLUMINA ss3629282916 Oct 12, 2018 (152)
104 ILLUMINA ss3632232321 Oct 12, 2018 (152)
105 ILLUMINA ss3633381464 Oct 12, 2018 (152)
106 ILLUMINA ss3634102324 Oct 12, 2018 (152)
107 ILLUMINA ss3635011328 Oct 12, 2018 (152)
108 ILLUMINA ss3635011329 Oct 12, 2018 (152)
109 ILLUMINA ss3635784221 Oct 12, 2018 (152)
110 ILLUMINA ss3636723466 Oct 12, 2018 (152)
111 ILLUMINA ss3637536848 Oct 12, 2018 (152)
112 ILLUMINA ss3638566028 Oct 12, 2018 (152)
113 ILLUMINA ss3639285644 Oct 12, 2018 (152)
114 ILLUMINA ss3639666498 Oct 12, 2018 (152)
115 ILLUMINA ss3640718621 Oct 12, 2018 (152)
116 ILLUMINA ss3640718622 Oct 12, 2018 (152)
117 ILLUMINA ss3643511158 Oct 12, 2018 (152)
118 ILLUMINA ss3644882371 Oct 12, 2018 (152)
119 OMUKHERJEE_ADBS ss3646322227 Oct 12, 2018 (152)
120 URBANLAB ss3648112935 Oct 12, 2018 (152)
121 ILLUMINA ss3653004002 Oct 12, 2018 (152)
122 ILLUMINA ss3654100569 Oct 12, 2018 (152)
123 1000Genomes NC_000005.9 - 90024735 Oct 12, 2018 (152)
124 The Avon Longitudinal Study of Parents and Children NC_000005.9 - 90024735 Oct 12, 2018 (152)
125 Genetic variation in the Estonian population NC_000005.9 - 90024735 Oct 12, 2018 (152)
126 ExAC NC_000005.9 - 90024735 Oct 12, 2018 (152)
127 gnomAD - Genomes NC_000005.9 - 90024735 Oct 12, 2018 (152)
128 gnomAD - Exomes NC_000005.9 - 90024735 Oct 12, 2018 (152)
129 GO Exome Sequencing Project NC_000005.9 - 90024735 Oct 12, 2018 (152)
130 TopMed NC_000005.10 - 90728918 Oct 12, 2018 (152)
131 UK 10K study - Twins NC_000005.9 - 90024735 Oct 12, 2018 (152)
132 ClinVar RCV000039504.7 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)
rs17553075 Oct 08, 2004 (123)
rs52826499 Sep 21, 2007 (128)
rs59791227 May 25, 2008 (130)
rs386565803 Aug 06, 2014 (136)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss109209347, ss112172513, ss116708352, ss165465972, ss166797267, ss200517313, ss206756730, ss253613854, ss278377638, ss285215413, ss293400339, ss480547009, ss491869687, ss825462318, ss1397419757, ss1591327774, ss1712780660, ss3639285644, ss3639666498, ss3643511158 NC_000005.8:90060490:G= NC_000005.10:90728917:G= (self)
27655429, 15379033, 10938534, 7878118, 167958527, 3368649, 555425, 15379033, ss221801363, ss233033996, ss240186310, ss480561062, ss481376247, ss485069306, ss490906887, ss491368721, ss537082696, ss558534792, ss652414372, ss712648954, ss779039041, ss780838798, ss782980925, ss783522003, ss783941955, ss832237458, ss834501853, ss974456465, ss981810230, ss1067469611, ss1072810301, ss1316020315, ss1430415750, ss1581230247, ss1584039782, ss1613377890, ss1656371923, ss1687880846, ss1711092003, ss1752589224, ss1752589225, ss1803825505, ss1917791848, ss1925062108, ss1946149407, ss1958803027, ss1970142407, ss2023137854, ss2151294422, ss2443884133, ss2626065076, ss2634306654, ss2706848963, ss2735113901, ss2747418499, ss2827330771, ss2985326605, ss2985960319, ss2997315850, ss3022506850, ss3346492856, ss3629282915, ss3629282916, ss3632232321, ss3633381464, ss3634102324, ss3635011328, ss3635011329, ss3635784221, ss3636723466, ss3637536848, ss3638566028, ss3640718621, ss3640718622, ss3644882371, ss3646322227, ss3653004002, ss3654100569 NC_000005.9:90024734:G= NC_000005.10:90728917:G= (self)
316078579, ss244317116, ss2275635532, ss3025353786, ss3470738991, ss3648112935 NC_000005.10:90728917:G= NC_000005.10:90728917:G= (self)
ss11701502, ss17849447, ss22229956 NT_006713.13:19416866:G= NC_000005.10:90728917:G= (self)
ss76884047 NT_006713.14:40619092:G= NC_000005.10:90728917:G= (self)
ss3324683, ss24369854, ss65776303, ss66807112, ss67249520, ss67647046, ss68941921, ss70727853, ss71296957, ss74811845, ss75828492, ss79131800, ss84042143, ss98743387, ss105936559, ss122016270, ss143257001, ss153907170, ss155723852, ss159385029, ss160540457, ss171221422, ss173310576 NT_006713.15:40619093:G= NC_000005.10:90728917:G= (self)
ss109209347, ss112172513, ss116708352, ss165465972, ss166797267, ss200517313, ss206756730, ss253613854, ss278377638, ss285215413, ss293400339, ss480547009, ss491869687, ss825462318, ss1397419757, ss1591327774, ss1712780660, ss3639285644, ss3639666498, ss3643511158 NC_000005.8:90060490:G>A NC_000005.10:90728917:G>A (self)
27655429, 15379033, 10938534, 7878118, 167958527, 3368649, 555425, 15379033, ss221801363, ss233033996, ss240186310, ss480561062, ss481376247, ss485069306, ss490906887, ss491368721, ss537082696, ss558534792, ss652414372, ss712648954, ss779039041, ss780838798, ss782980925, ss783522003, ss783941955, ss832237458, ss834501853, ss974456465, ss981810230, ss1067469611, ss1072810301, ss1316020315, ss1430415750, ss1581230247, ss1584039782, ss1613377890, ss1656371923, ss1687880846, ss1711092003, ss1752589224, ss1752589225, ss1803825505, ss1917791848, ss1925062108, ss1946149407, ss1958803027, ss1970142407, ss2023137854, ss2151294422, ss2443884133, ss2626065076, ss2634306654, ss2706848963, ss2735113901, ss2747418499, ss2827330771, ss2985326605, ss2985960319, ss2997315850, ss3022506850, ss3346492856, ss3629282915, ss3629282916, ss3632232321, ss3633381464, ss3634102324, ss3635011328, ss3635011329, ss3635784221, ss3636723466, ss3637536848, ss3638566028, ss3640718621, ss3640718622, ss3644882371, ss3646322227, ss3653004002, ss3654100569 NC_000005.9:90024734:G>A NC_000005.10:90728917:G>A (self)
RCV000039504.7, 316078579, ss244317116, ss2275635532, ss3025353786, ss3470738991, ss3648112935 NC_000005.10:90728917:G>A NC_000005.10:90728917:G>A (self)
ss11701502, ss17849447, ss22229956 NT_006713.13:19416866:G>A NC_000005.10:90728917:G>A (self)
ss76884047 NT_006713.14:40619092:G>A NC_000005.10:90728917:G>A (self)
ss3324683, ss24369854, ss65776303, ss66807112, ss67249520, ss67647046, ss68941921, ss70727853, ss71296957, ss74811845, ss75828492, ss79131800, ss84042143, ss98743387, ss105936559, ss122016270, ss143257001, ss153907170, ss155723852, ss159385029, ss160540457, ss171221422, ss173310576 NT_006713.15:40619093:G>A NC_000005.10:90728917:G>A (self)
Help

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

2 citations for rs2366928
PMID Title Author Year Journal
24033266 A systematic approach to assessing the clinical significance of genetic variants. Duzkale H et al. 2013 Clinical genetics
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine

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.
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Software version is: 2.0.1.post58+e54ea20