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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.

rs192344

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:130815182 (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>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.170962 (45252/264690, TOPMED)
A=0.171923 (24093/140138, GnomAD)
A=0.10815 (3056/28258, 14KJPN) (+ 17 more)
A=0.18681 (4618/24720, ALFA)
A=0.10758 (1803/16760, 8.3KJPN)
A=0.1413 (905/6404, 1000G_30x)
A=0.1396 (699/5008, 1000G)
A=0.2254 (1010/4480, Estonian)
A=0.1907 (735/3854, ALSPAC)
A=0.1872 (694/3708, TWINSUK)
A=0.0843 (247/2930, KOREAN)
A=0.0955 (175/1832, Korea1K)
A=0.1362 (179/1314, HapMap)
A=0.223 (223/998, GoNL)
A=0.258 (155/600, NorthernSweden)
A=0.106 (57/538, SGDP_PRJ)
A=0.204 (44/216, Qatari)
A=0.107 (23/214, Vietnamese)
A=0.07 (4/56, Siberian)
A=0.10 (4/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ADCY8 : Intron Variant
Publications
0 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 24720 A=0.18681 G=0.81319
European Sub 17394 A=0.19783 G=0.80217
African Sub 3620 A=0.1702 G=0.8298
African Others Sub 126 A=0.183 G=0.817
African American Sub 3494 A=0.1697 G=0.8303
Asian Sub 160 A=0.075 G=0.925
East Asian Sub 102 A=0.098 G=0.902
Other Asian Sub 58 A=0.03 G=0.97
Latin American 1 Sub 254 A=0.177 G=0.823
Latin American 2 Sub 1908 A=0.1525 G=0.8475
South Asian Sub 110 A=0.136 G=0.864
Other Sub 1274 A=0.1554 G=0.8446


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=0.170962 G=0.829038
gnomAD - Genomes Global Study-wide 140138 A=0.171923 G=0.828077
gnomAD - Genomes European Sub 75906 A=0.17879 G=0.82121
gnomAD - Genomes African Sub 41974 A=0.17177 G=0.82823
gnomAD - Genomes American Sub 13650 A=0.14879 G=0.85121
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.2019 G=0.7981
gnomAD - Genomes East Asian Sub 3130 A=0.0840 G=0.9160
gnomAD - Genomes Other Sub 2154 A=0.1611 G=0.8389
14KJPN JAPANESE Study-wide 28258 A=0.10815 G=0.89185
Allele Frequency Aggregator Total Global 24720 A=0.18681 G=0.81319
Allele Frequency Aggregator European Sub 17394 A=0.19783 G=0.80217
Allele Frequency Aggregator African Sub 3620 A=0.1702 G=0.8298
Allele Frequency Aggregator Latin American 2 Sub 1908 A=0.1525 G=0.8475
Allele Frequency Aggregator Other Sub 1274 A=0.1554 G=0.8446
Allele Frequency Aggregator Latin American 1 Sub 254 A=0.177 G=0.823
Allele Frequency Aggregator Asian Sub 160 A=0.075 G=0.925
Allele Frequency Aggregator South Asian Sub 110 A=0.136 G=0.864
8.3KJPN JAPANESE Study-wide 16760 A=0.10758 G=0.89242
1000Genomes_30x Global Study-wide 6404 A=0.1413 G=0.8587
1000Genomes_30x African Sub 1786 A=0.1635 G=0.8365
1000Genomes_30x Europe Sub 1266 A=0.1777 G=0.8223
1000Genomes_30x South Asian Sub 1202 A=0.1032 G=0.8968
1000Genomes_30x East Asian Sub 1170 A=0.0872 G=0.9128
1000Genomes_30x American Sub 980 A=0.165 G=0.835
1000Genomes Global Study-wide 5008 A=0.1396 G=0.8604
1000Genomes African Sub 1322 A=0.1687 G=0.8313
1000Genomes East Asian Sub 1008 A=0.0873 G=0.9127
1000Genomes Europe Sub 1006 A=0.1789 G=0.8211
1000Genomes South Asian Sub 978 A=0.100 G=0.900
1000Genomes American Sub 694 A=0.159 G=0.841
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.2254 G=0.7746
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.1907 G=0.8093
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.1872 G=0.8128
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.0843 C=0.0000, G=0.9157, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 A=0.0955 G=0.9045
HapMap Global Study-wide 1314 A=0.1362 G=0.8638
HapMap American Sub 660 A=0.132 G=0.868
HapMap African Sub 400 A=0.182 G=0.818
HapMap Asian Sub 254 A=0.075 G=0.925
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.223 G=0.777
Northern Sweden ACPOP Study-wide 600 A=0.258 G=0.742
SGDP_PRJ Global Study-wide 538 A=0.106 G=0.894
Qatari Global Study-wide 216 A=0.204 G=0.796
A Vietnamese Genetic Variation Database Global Study-wide 214 A=0.107 G=0.893
Siberian Global Study-wide 56 A=0.07 G=0.93
The Danish reference pan genome Danish Study-wide 40 A=0.10 G=0.90
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 8 NC_000008.11:g.130815182A>C
GRCh38.p14 chr 8 NC_000008.11:g.130815182A>G
GRCh38.p14 chr 8 NC_000008.11:g.130815182A>T
GRCh37.p13 chr 8 NC_000008.10:g.131827428A>C
GRCh37.p13 chr 8 NC_000008.10:g.131827428A>G
GRCh37.p13 chr 8 NC_000008.10:g.131827428A>T
Gene: ADCY8, adenylate cyclase 8 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ADCY8 transcript NM_001115.3:c.2755-955T>G N/A Intron Variant
ADCY8 transcript variant X1 XM_005250769.4:c.2665-955…

XM_005250769.4:c.2665-955T>G

N/A Intron Variant
ADCY8 transcript variant X2 XM_006716501.4:c.2557-955…

XM_006716501.4:c.2557-955T>G

N/A Intron Variant
ADCY8 transcript variant X3 XM_017013006.2:c.2467-955…

XM_017013006.2:c.2467-955T>G

N/A Intron Variant
ADCY8 transcript variant X4 XM_017013007.2: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

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= C G T
GRCh38.p14 chr 8 NC_000008.11:g.130815182= NC_000008.11:g.130815182A>C NC_000008.11:g.130815182A>G NC_000008.11:g.130815182A>T
GRCh37.p13 chr 8 NC_000008.10:g.131827428= NC_000008.10:g.131827428A>C NC_000008.10:g.131827428A>G NC_000008.10:g.131827428A>T
ADCY8 transcript NM_001115.2:c.2755-955= NM_001115.2:c.2755-955T>G NM_001115.2:c.2755-955T>C NM_001115.2:c.2755-955T>A
ADCY8 transcript NM_001115.3:c.2755-955= NM_001115.3:c.2755-955T>G NM_001115.3:c.2755-955T>C NM_001115.3:c.2755-955T>A
ADCY8 transcript variant X1 XM_005250769.1:c.2665-955= XM_005250769.1:c.2665-955T>G XM_005250769.1:c.2665-955T>C XM_005250769.1:c.2665-955T>A
ADCY8 transcript variant X1 XM_005250769.4:c.2665-955= XM_005250769.4:c.2665-955T>G XM_005250769.4:c.2665-955T>C XM_005250769.4:c.2665-955T>A
ADCY8 transcript variant X2 XM_005250770.1:c.2362-955= XM_005250770.1:c.2362-955T>G XM_005250770.1:c.2362-955T>C XM_005250770.1:c.2362-955T>A
ADCY8 transcript variant X2 XM_006716501.4:c.2557-955= XM_006716501.4:c.2557-955T>G XM_006716501.4:c.2557-955T>C XM_006716501.4:c.2557-955T>A
ADCY8 transcript variant X3 XM_017013006.2:c.2467-955= XM_017013006.2:c.2467-955T>G XM_017013006.2:c.2467-955T>C XM_017013006.2:c.2467-955T>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#.

90 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss253555 Jul 12, 2000 (79)
2 SC_JCM ss546856 Jul 16, 2000 (80)
3 KWOK ss1067852 Oct 04, 2000 (86)
4 TSC-CSHL ss1411017 Oct 04, 2000 (86)
5 KWOK ss1756570 Oct 18, 2000 (87)
6 SC_JCM ss3613049 Sep 28, 2001 (100)
7 WI_SSAHASNP ss6529434 Feb 20, 2003 (111)
8 WI_SSAHASNP ss14322220 Dec 05, 2003 (119)
9 CSHL-HAPMAP ss17955995 Feb 27, 2004 (120)
10 CSHL-HAPMAP ss20328846 Feb 27, 2004 (120)
11 SSAHASNP ss22664031 Apr 05, 2004 (121)
12 AFFY ss66141925 Nov 30, 2006 (127)
13 PERLEGEN ss69062978 May 17, 2007 (127)
14 AFFY ss76160766 Dec 07, 2007 (129)
15 KRIBB_YJKIM ss81408988 Dec 14, 2007 (130)
16 HGSV ss83116636 Dec 15, 2007 (130)
17 HGSV ss85448286 Dec 15, 2007 (130)
18 BCMHGSC_JDW ss93969992 Mar 25, 2008 (129)
19 HUMANGENOME_JCVI ss97903847 Feb 06, 2009 (130)
20 BGI ss105646577 Feb 06, 2009 (130)
21 1000GENOMES ss108409629 Jan 23, 2009 (130)
22 ILLUMINA-UK ss116199924 Feb 14, 2009 (130)
23 ENSEMBL ss134520768 Dec 01, 2009 (131)
24 ENSEMBL ss143796279 Dec 01, 2009 (131)
25 GMI ss156912173 Dec 01, 2009 (131)
26 COMPLETE_GENOMICS ss162811287 Jul 04, 2010 (132)
27 COMPLETE_GENOMICS ss165757114 Jul 04, 2010 (132)
28 COMPLETE_GENOMICS ss167155269 Jul 04, 2010 (132)
29 AFFY ss172675623 Jun 24, 2010 (142)
30 BUSHMAN ss199803076 Jul 04, 2010 (132)
31 1000GENOMES ss210656927 Jul 14, 2010 (132)
32 1000GENOMES ss223993731 Jul 14, 2010 (132)
33 1000GENOMES ss234638056 Jul 15, 2010 (132)
34 1000GENOMES ss241449959 Jul 15, 2010 (132)
35 BL ss254672267 May 09, 2011 (134)
36 GMI ss280014866 May 04, 2012 (137)
37 GMI ss285929511 Apr 25, 2013 (138)
38 PJP ss294188064 May 09, 2011 (134)
39 TISHKOFF ss561087044 Apr 25, 2013 (138)
40 SSMP ss655521127 Apr 25, 2013 (138)
41 EVA-GONL ss986083451 Aug 21, 2014 (142)
42 JMKIDD_LAB ss1075937132 Aug 21, 2014 (142)
43 1000GENOMES ss1332012497 Aug 21, 2014 (142)
44 DDI ss1431678864 Apr 01, 2015 (144)
45 EVA_GENOME_DK ss1582896401 Apr 01, 2015 (144)
46 EVA_DECODE ss1595701039 Apr 01, 2015 (144)
47 EVA_UK10K_ALSPAC ss1621786486 Apr 01, 2015 (144)
48 EVA_UK10K_TWINSUK ss1664780519 Apr 01, 2015 (144)
49 EVA_SVP ss1713073002 Apr 01, 2015 (144)
50 HAMMER_LAB ss1805772776 Sep 08, 2015 (146)
51 WEILL_CORNELL_DGM ss1929357783 Feb 12, 2016 (147)
52 GENOMED ss1971099136 Jul 19, 2016 (147)
53 JJLAB ss2025381718 Sep 14, 2016 (149)
54 USC_VALOUEV ss2153611208 Dec 20, 2016 (150)
55 HUMAN_LONGEVITY ss2307585800 Dec 20, 2016 (150)
56 SYSTEMSBIOZJU ss2627165812 Nov 08, 2017 (151)
57 GRF ss2709399752 Nov 08, 2017 (151)
58 GNOMAD ss2872977644 Nov 08, 2017 (151)
59 SWEGEN ss3004038022 Nov 08, 2017 (151)
60 BIOINF_KMB_FNS_UNIBA ss3026477049 Nov 08, 2017 (151)
61 CSHL ss3348416956 Nov 08, 2017 (151)
62 URBANLAB ss3649021064 Oct 12, 2018 (152)
63 EGCUT_WGS ss3671762655 Jul 13, 2019 (153)
64 EVA_DECODE ss3723055615 Jul 13, 2019 (153)
65 ACPOP ss3736122716 Jul 13, 2019 (153)
66 EVA ss3768639821 Jul 13, 2019 (153)
67 PACBIO ss3786286834 Jul 13, 2019 (153)
68 PACBIO ss3791519080 Jul 13, 2019 (153)
69 PACBIO ss3796400640 Jul 13, 2019 (153)
70 KHV_HUMAN_GENOMES ss3811805066 Jul 13, 2019 (153)
71 EVA ss3831426982 Apr 26, 2020 (154)
72 EVA ss3839223190 Apr 26, 2020 (154)
73 EVA ss3844683792 Apr 26, 2020 (154)
74 SGDP_PRJ ss3871048438 Apr 26, 2020 (154)
75 KRGDB ss3918653473 Apr 26, 2020 (154)
76 KOGIC ss3964886230 Apr 26, 2020 (154)
77 TOPMED ss4805068150 Apr 26, 2021 (155)
78 TOMMO_GENOMICS ss5191109720 Apr 26, 2021 (155)
79 1000G_HIGH_COVERAGE ss5279029796 Oct 16, 2022 (156)
80 EVA ss5384618410 Oct 16, 2022 (156)
81 HUGCELL_USP ss5475402647 Oct 16, 2022 (156)
82 EVA ss5509560581 Oct 16, 2022 (156)
83 1000G_HIGH_COVERAGE ss5570403094 Oct 16, 2022 (156)
84 SANFORD_IMAGENETICS ss5646464548 Oct 16, 2022 (156)
85 TOMMO_GENOMICS ss5733865863 Oct 16, 2022 (156)
86 YY_MCH ss5810155277 Oct 16, 2022 (156)
87 EVA ss5831258075 Oct 16, 2022 (156)
88 EVA ss5856582525 Oct 16, 2022 (156)
89 EVA ss5891130606 Oct 16, 2022 (156)
90 EVA ss5975720744 Oct 16, 2022 (156)
91 1000Genomes NC_000008.10 - 131827428 Oct 12, 2018 (152)
92 1000Genomes_30x NC_000008.11 - 130815182 Oct 16, 2022 (156)
93 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 131827428 Oct 12, 2018 (152)
94 Genetic variation in the Estonian population NC_000008.10 - 131827428 Oct 12, 2018 (152)
95 The Danish reference pan genome NC_000008.10 - 131827428 Apr 26, 2020 (154)
96 gnomAD - Genomes NC_000008.11 - 130815182 Apr 26, 2021 (155)
97 Genome of the Netherlands Release 5 NC_000008.10 - 131827428 Apr 26, 2020 (154)
98 HapMap NC_000008.11 - 130815182 Apr 26, 2020 (154)
99 KOREAN population from KRGDB NC_000008.10 - 131827428 Apr 26, 2020 (154)
100 Korean Genome Project NC_000008.11 - 130815182 Apr 26, 2020 (154)
101 Northern Sweden NC_000008.10 - 131827428 Jul 13, 2019 (153)
102 Qatari NC_000008.10 - 131827428 Apr 26, 2020 (154)
103 SGDP_PRJ NC_000008.10 - 131827428 Apr 26, 2020 (154)
104 Siberian NC_000008.10 - 131827428 Apr 26, 2020 (154)
105 8.3KJPN NC_000008.10 - 131827428 Apr 26, 2021 (155)
106 14KJPN NC_000008.11 - 130815182 Oct 16, 2022 (156)
107 TopMed NC_000008.11 - 130815182 Apr 26, 2021 (155)
108 UK 10K study - Twins NC_000008.10 - 131827428 Oct 12, 2018 (152)
109 A Vietnamese Genetic Variation Database NC_000008.10 - 131827428 Jul 13, 2019 (153)
110 ALFA NC_000008.11 - 130815182 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)
rs57064619 Feb 27, 2009 (130)
rs60925885 May 26, 2008 (130)
rs111182663 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
25830867, ss3918653473 NC_000008.10:131827427:A:C NC_000008.11:130815181:A:C (self)
ss66141925, ss76160766, ss83116636, ss85448286, ss93969992, ss108409629, ss116199924, ss162811287, ss165757114, ss167155269, ss172675623, ss199803076, ss210656927, ss254672267, ss280014866, ss285929511, ss294188064, ss1595701039, ss1713073002 NC_000008.9:131896609:A:G NC_000008.11:130815181:A:G (self)
44215258, 24606017, 17500903, 9061338, 10978616, 25830867, 9407581, 11399713, 23065418, 6127562, 49079027, 24606017, 5465363, ss223993731, ss234638056, ss241449959, ss561087044, ss655521127, ss986083451, ss1075937132, ss1332012497, ss1431678864, ss1582896401, ss1621786486, ss1664780519, ss1805772776, ss1929357783, ss1971099136, ss2025381718, ss2153611208, ss2627165812, ss2709399752, ss2872977644, ss3004038022, ss3348416956, ss3671762655, ss3736122716, ss3768639821, ss3786286834, ss3791519080, ss3796400640, ss3831426982, ss3839223190, ss3871048438, ss3918653473, ss5191109720, ss5384618410, ss5509560581, ss5646464548, ss5831258075, ss5975720744 NC_000008.10:131827427:A:G NC_000008.11:130815181:A:G (self)
57929029, 311870339, 3729980, 21264231, 67702967, 642445710, 7322565839, ss2307585800, ss3026477049, ss3649021064, ss3723055615, ss3811805066, ss3844683792, ss3964886230, ss4805068150, ss5279029796, ss5475402647, ss5570403094, ss5733865863, ss5810155277, ss5856582525, ss5891130606 NC_000008.11:130815181:A:G NC_000008.11:130815181:A:G (self)
ss14322220, ss17955995, ss20328846, ss22664031 NT_008046.14:45045606:A:G NC_000008.11:130815181:A:G (self)
ss253555, ss546856, ss1067852, ss1411017, ss1756570, ss3613049, ss6529434, ss69062978, ss81408988, ss97903847, ss105646577, ss134520768, ss143796279, ss156912173 NT_008046.16:45100976:A:G NC_000008.11:130815181:A:G (self)
25830867, ss3918653473 NC_000008.10:131827427:A:T NC_000008.11:130815181: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.

No publications for rs192344

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