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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 Aliases 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.

rs4339660

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr8:130790976 (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=0.35973 (45170/125568, TOPMED)
G=0.3721 (11660/31334, GnomAD)
G=0.468 (2344/5008, 1000G) (+ 5 more)
G=0.362 (1620/4480, Estonian)
G=0.397 (1530/3854, ALSPAC)
G=0.400 (1485/3708, TWINSUK)
G=0.41 (244/600, NorthernSweden)
A=0.26 (54/210, Vietnamese)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ADCY8 : Intron 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.p12 chr 8 NC_000008.11:g.130790976G>A
GRCh37.p13 chr 8 NC_000008.10:g.131803222G>A
Gene: ADCY8, adenylate cyclase 8 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ADCY8 transcript NM_001115.3:c. N/A Intron Variant
ADCY8 transcript variant X1 XM_005250769.3:c. N/A Intron Variant
ADCY8 transcript variant X2 XM_006716501.3:c. N/A Intron Variant
ADCY8 transcript variant X3 XM_017013006.1:c. N/A Intron Variant
ADCY8 transcript variant X4 XM_017013007.1: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.

Not Reported in ClinVar
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 125568 G=0.35973 A=0.64027
gnomAD - Genomes Global Study-wide 31334 G=0.3721 A=0.6279
gnomAD - Genomes European Sub 18860 G=0.4046 A=0.5954
gnomAD - Genomes African Sub 8706 G=0.215 A=0.785
gnomAD - Genomes East Asian Sub 1552 G=0.726 A=0.274
gnomAD - Genomes Other Sub 1084 G=0.453 A=0.547
gnomAD - Genomes American Sub 842 G=0.52 A=0.48
gnomAD - Genomes Ashkenazi Jewish Sub 290 G=0.35 A=0.65
1000Genomes Global Study-wide 5008 G=0.468 A=0.532
1000Genomes African Sub 1322 G=0.185 A=0.815
1000Genomes East Asian Sub 1008 G=0.679 A=0.321
1000Genomes Europe Sub 1006 G=0.390 A=0.610
1000Genomes South Asian Sub 978 G=0.69 A=0.31
1000Genomes American Sub 694 G=0.51 A=0.49
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.362 A=0.638
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.397 A=0.603
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.400 A=0.600
Northern Sweden ACPOP Study-wide 600 G=0.41 A=0.59
A Vietnamese Genetic Variation Database Global Study-wide 210 G=0.74 A=0.26
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 8 NC_000008.11:g.130790976= NC_000008.11:g.13079097...

NC_000008.11:g.130790976G>A

GRCh37.p13 chr 8 NC_000008.10:g.131803222= NC_000008.10:g.13180322...

NC_000008.10:g.131803222G>A

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#.

76 SubSNP, 8 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss5769410 Feb 20, 2003 (111)
2 BCM_SSAHASNP ss10421806 Jul 11, 2003 (116)
3 PERLEGEN ss14900313 Dec 05, 2003 (119)
4 CSHL-HAPMAP ss20345098 Feb 27, 2004 (120)
5 SSAHASNP ss22691314 Apr 05, 2004 (121)
6 PERLEGEN ss24525183 Sep 20, 2004 (123)
7 ABI ss43131458 Mar 14, 2006 (126)
8 AFFY ss66032342 Nov 29, 2006 (127)
9 AFFY ss66237803 Nov 29, 2006 (127)
10 AFFY ss76383608 Dec 08, 2007 (129)
11 KRIBB_YJKIM ss82021909 Dec 14, 2007 (130)
12 BCMHGSC_JDW ss93969946 Mar 25, 2008 (129)
13 HUMANGENOME_JCVI ss98114045 Feb 05, 2009 (130)
14 1000GENOMES ss108409447 Jan 23, 2009 (130)
15 1000GENOMES ss113797513 Jan 25, 2009 (130)
16 ILLUMINA-UK ss116199772 Feb 14, 2009 (130)
17 ENSEMBL ss133448139 Dec 01, 2009 (131)
18 ENSEMBL ss143796108 Dec 01, 2009 (131)
19 GMI ss156911901 Dec 01, 2009 (131)
20 COMPLETE_GENOMICS ss162810941 Jul 04, 2010 (132)
21 COMPLETE_GENOMICS ss165756660 Jul 04, 2010 (132)
22 COMPLETE_GENOMICS ss167154901 Jul 04, 2010 (132)
23 AFFY ss173436640 Jul 04, 2010 (132)
24 BUSHMAN ss199802752 Jul 04, 2010 (132)
25 BCM-HGSC-SUB ss208561742 Jul 04, 2010 (132)
26 1000GENOMES ss223993591 Jul 14, 2010 (132)
27 1000GENOMES ss234637944 Jul 15, 2010 (132)
28 1000GENOMES ss241449860 Jul 15, 2010 (132)
29 BL ss254672099 May 09, 2011 (134)
30 GMI ss280014782 May 04, 2012 (137)
31 GMI ss285929440 Apr 25, 2013 (138)
32 PJP ss294188003 May 09, 2011 (134)
33 ILLUMINA ss483933009 May 04, 2012 (137)
34 ILLUMINA ss485546962 May 04, 2012 (137)
35 ILLUMINA ss536127154 Sep 08, 2015 (146)
36 TISHKOFF ss561086884 Apr 25, 2013 (138)
37 SSMP ss655520978 Apr 25, 2013 (138)
38 ILLUMINA ss779433259 Sep 08, 2015 (146)
39 ILLUMINA ss782410258 Sep 08, 2015 (146)
40 ILLUMINA ss834902615 Sep 08, 2015 (146)
41 EVA-GONL ss986083238 Aug 21, 2014 (142)
42 JMKIDD_LAB ss1075936947 Aug 21, 2014 (142)
43 1000GENOMES ss1332011771 Aug 21, 2014 (142)
44 DDI ss1431678771 Apr 01, 2015 (144)
45 EVA_GENOME_DK ss1582896284 Apr 01, 2015 (144)
46 EVA_DECODE ss1595700813 Apr 01, 2015 (144)
47 EVA_UK10K_ALSPAC ss1621786076 Apr 01, 2015 (144)
48 EVA_UK10K_TWINSUK ss1664780109 Apr 01, 2015 (144)
49 EVA_SVP ss1713072968 Apr 01, 2015 (144)
50 HAMMER_LAB ss1805772650 Sep 08, 2015 (146)
51 WEILL_CORNELL_DGM ss1929357542 Feb 12, 2016 (147)
52 GENOMED ss1971099074 Jul 19, 2016 (147)
53 JJLAB ss2025381584 Sep 14, 2016 (149)
54 USC_VALOUEV ss2153611078 Dec 20, 2016 (150)
55 HUMAN_LONGEVITY ss2307584273 Dec 20, 2016 (150)
56 TOPMED ss2477565699 Dec 20, 2016 (150)
57 SYSTEMSBIOZJU ss2627165710 Nov 08, 2017 (151)
58 ILLUMINA ss2634807154 Nov 08, 2017 (151)
59 GRF ss2709399609 Nov 08, 2017 (151)
60 GNOMAD ss2872975683 Nov 08, 2017 (151)
61 AFFY ss2986093069 Nov 08, 2017 (151)
62 SWEGEN ss3004037709 Nov 08, 2017 (151)
63 BIOINF_KMB_FNS_UNIBA ss3026476947 Nov 08, 2017 (151)
64 CSHL ss3348416840 Nov 08, 2017 (151)
65 TOPMED ss3576409622 Nov 08, 2017 (151)
66 ILLUMINA ss3630164207 Oct 12, 2018 (152)
67 ILLUMINA ss3632703174 Oct 12, 2018 (152)
68 URBANLAB ss3649020997 Oct 12, 2018 (152)
69 EGCUT_WGS ss3671762329 Jul 13, 2019 (153)
70 EVA_DECODE ss3723055290 Jul 13, 2019 (153)
71 ACPOP ss3736122538 Jul 13, 2019 (153)
72 EVA ss3768639526 Jul 13, 2019 (153)
73 PACBIO ss3786286750 Jul 13, 2019 (153)
74 PACBIO ss3791519000 Jul 13, 2019 (153)
75 PACBIO ss3796400558 Jul 13, 2019 (153)
76 KHV_HUMAN_GENOMES ss3811804826 Jul 13, 2019 (153)
77 1000Genomes NC_000008.10 - 131803222 Oct 12, 2018 (152)
78 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 131803222 Oct 12, 2018 (152)
79 Genetic variation in the Estonian population NC_000008.10 - 131803222 Oct 12, 2018 (152)
80 gnomAD - Genomes NC_000008.10 - 131803222 Jul 13, 2019 (153)
81 Northern Sweden NC_000008.10 - 131803222 Jul 13, 2019 (153)
82 TopMed NC_000008.11 - 130790976 Oct 12, 2018 (152)
83 UK 10K study - Twins NC_000008.10 - 131803222 Oct 12, 2018 (152)
84 A Vietnamese Genetic Variation Database NC_000008.10 - 131803222 Jul 13, 2019 (153)
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)
rs17317496 Oct 08, 2004 (123)
rs56709549 Feb 27, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss93969946, ss108409447, ss113797513, ss116199772, ss162810941, ss165756660, ss167154901, ss199802752, ss208561742, ss254672099, ss280014782, ss285929440, ss294188003, ss485546962, ss1595700813, ss1713072968 NC_000008.9:131872403:G:A NC_000008.11:130790975:G:A (self)
44214532, 24605573, 17500577, 120873305, 9407403, 24605573, 5465236, ss223993591, ss234637944, ss241449860, ss483933009, ss536127154, ss561086884, ss655520978, ss779433259, ss782410258, ss834902615, ss986083238, ss1075936947, ss1332011771, ss1431678771, ss1582896284, ss1621786076, ss1664780109, ss1805772650, ss1929357542, ss1971099074, ss2025381584, ss2153611078, ss2477565699, ss2627165710, ss2634807154, ss2709399609, ss2872975683, ss2986093069, ss3004037709, ss3348416840, ss3630164207, ss3632703174, ss3671762329, ss3736122538, ss3768639526, ss3786286750, ss3791519000, ss3796400558 NC_000008.10:131803221:G:A NC_000008.11:130790975:G:A (self)
401349603, ss2307584273, ss3026476947, ss3576409622, ss3649020997, ss3723055290, ss3811804826 NC_000008.11:130790975:G:A NC_000008.11:130790975:G:A (self)
ss10421806 NT_008046.13:45023484:G:A NC_000008.11:130790975:G:A (self)
ss20345098, ss22691314 NT_008046.14:45021400:G:A NC_000008.11:130790975:G:A (self)
ss5769410, ss14900313, ss24525183, ss43131458, ss66032342, ss66237803, ss76383608, ss82021909, ss98114045, ss133448139, ss143796108, ss156911901, ss173436640 NT_008046.16:45076770:G:A NC_000008.11:130790975: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.

No publications for rs4339660

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.post308+0fe9b3b