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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.

rs144153450

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:48776077 (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
A=0.001326 (351/264690, TOPMED)
A=0.000548 (137/249848, GnomAD_exome)
A=0.001077 (151/140248, GnomAD) (+ 9 more)
A=0.000644 (72/111778, ExAC)
A=0.00054 (24/44768, ALFA)
A=0.00100 (13/13006, GO-ESP)
A=0.0016 (10/6404, 1000G_30x)
A=0.0016 (8/5008, 1000G)
A=0.0003 (1/3854, ALSPAC)
A=0.0008 (3/3708, TWINSUK)
A=0.001 (1/998, GoNL)
A=0.005 (1/216, Qatari)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ADCY6 : Synonymous 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 61126 G=0.99933 A=0.00067, C=0.00000
European Sub 42860 G=0.99965 A=0.00035, C=0.00000
African Sub 8390 G=0.9979 A=0.0021, C=0.0000
African Others Sub 306 G=1.000 A=0.000, C=0.000
African American Sub 8084 G=0.9978 A=0.0022, C=0.0000
Asian Sub 168 G=1.000 A=0.000, C=0.000
East Asian Sub 112 G=1.000 A=0.000, C=0.000
Other Asian Sub 56 G=1.00 A=0.00, C=0.00
Latin American 1 Sub 498 G=0.994 A=0.006, C=0.000
Latin American 2 Sub 626 G=1.000 A=0.000, C=0.000
South Asian Sub 98 G=1.00 A=0.00, C=0.00
Other Sub 8486 G=0.9994 A=0.0006, C=0.0000


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=0.998674 A=0.001326
gnomAD - Exomes Global Study-wide 249848 G=0.999452 A=0.000548
gnomAD - Exomes European Sub 134246 G=0.999695 A=0.000305
gnomAD - Exomes Asian Sub 48834 G=1.00000 A=0.00000
gnomAD - Exomes American Sub 34452 G=0.99896 A=0.00104
gnomAD - Exomes African Sub 16144 G=0.99734 A=0.00266
gnomAD - Exomes Ashkenazi Jewish Sub 10062 G=0.99871 A=0.00129
gnomAD - Exomes Other Sub 6110 G=0.9993 A=0.0007
gnomAD - Genomes Global Study-wide 140248 G=0.998923 A=0.001077
gnomAD - Genomes European Sub 75942 G=0.99980 A=0.00020
gnomAD - Genomes African Sub 42042 G=0.99719 A=0.00281
gnomAD - Genomes American Sub 13656 G=0.99897 A=0.00103
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.9991 A=0.0009
gnomAD - Genomes East Asian Sub 3132 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2152 G=0.9995 A=0.0005
ExAC Global Study-wide 111778 G=0.999356 A=0.000644
ExAC Europe Sub 67418 G=0.99958 A=0.00042
ExAC Asian Sub 23282 G=1.00000 A=0.00000
ExAC American Sub 10560 G=0.99867 A=0.00133
ExAC African Sub 9700 G=0.9972 A=0.0028
ExAC Other Sub 818 G=0.996 A=0.004
Allele Frequency Aggregator Total Global 44768 G=0.99946 A=0.00054, C=0.00000
Allele Frequency Aggregator European Sub 32774 G=0.99957 A=0.00043, C=0.00000
Allele Frequency Aggregator Other Sub 7052 G=0.9993 A=0.0007, C=0.0000
Allele Frequency Aggregator African Sub 3552 G=0.9994 A=0.0006, C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 626 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator Latin American 1 Sub 498 G=0.994 A=0.006, C=0.000
Allele Frequency Aggregator Asian Sub 168 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 A=0.00, C=0.00
GO Exome Sequencing Project Global Study-wide 13006 G=0.99900 A=0.00100
GO Exome Sequencing Project European American Sub 8600 G=0.9998 A=0.0002
GO Exome Sequencing Project African American Sub 4406 G=0.9975 A=0.0025
1000Genomes_30x Global Study-wide 6404 G=0.9984 A=0.0016
1000Genomes_30x African Sub 1786 G=0.9972 A=0.0028
1000Genomes_30x Europe Sub 1266 G=0.9984 A=0.0016
1000Genomes_30x South Asian Sub 1202 G=1.0000 A=0.0000
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=0.997 A=0.003
1000Genomes Global Study-wide 5008 G=0.9984 A=0.0016
1000Genomes African Sub 1322 G=0.9962 A=0.0038
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=0.9990 A=0.0010
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=0.997 A=0.003
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9997 A=0.0003
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9992 A=0.0008
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.999 A=0.001
Qatari Global Study-wide 216 G=0.995 A=0.005
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 12 NC_000012.12:g.48776077G>A
GRCh38.p14 chr 12 NC_000012.12:g.48776077G>C
GRCh37.p13 chr 12 NC_000012.11:g.49169860G>A
GRCh37.p13 chr 12 NC_000012.11:g.49169860G>C
ADCY6 RefSeqGene NG_042166.1:g.18020C>T
ADCY6 RefSeqGene NG_042166.1:g.18020C>G
Gene: ADCY6, adenylate cyclase 6 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ADCY6 transcript variant 1 NM_015270.5:c.1692C>T A [GCC] > A [GCT] Coding Sequence Variant
adenylate cyclase type 6 isoform 1 NP_056085.1:p.Ala564= A (Ala) > A (Ala) Synonymous Variant
ADCY6 transcript variant 1 NM_015270.5:c.1692C>G A [GCC] > A [GCG] Coding Sequence Variant
adenylate cyclase type 6 isoform 1 NP_056085.1:p.Ala564= A (Ala) > A (Ala) Synonymous Variant
ADCY6 transcript variant 3 NM_001390831.1:c.1692C>T A [GCC] > A [GCT] Coding Sequence Variant
adenylate cyclase type 6 isoform 1 NP_001377760.1:p.Ala564= A (Ala) > A (Ala) Synonymous Variant
ADCY6 transcript variant 3 NM_001390831.1:c.1692C>G A [GCC] > A [GCG] Coding Sequence Variant
adenylate cyclase type 6 isoform 1 NP_001377760.1:p.Ala564= A (Ala) > A (Ala) Synonymous Variant
ADCY6 transcript variant 2 NM_001390830.1:c.1692C>T A [GCC] > A [GCT] Coding Sequence Variant
adenylate cyclase type 6 isoform 2 NP_001377759.1:p.Ala564= A (Ala) > A (Ala) Synonymous Variant
ADCY6 transcript variant 2 NM_001390830.1:c.1692C>G A [GCC] > A [GCG] Coding Sequence Variant
adenylate cyclase type 6 isoform 2 NP_001377759.1:p.Ala564= A (Ala) > A (Ala) Synonymous Variant
ADCY6 transcript variant X1 XM_047428171.1:c.1692C>T A [GCC] > A [GCT] Coding Sequence Variant
adenylate cyclase type 6 isoform X1 XP_047284127.1:p.Ala564= A (Ala) > A (Ala) Synonymous Variant
ADCY6 transcript variant X1 XM_047428171.1:c.1692C>G A [GCC] > A [GCG] Coding Sequence Variant
adenylate cyclase type 6 isoform X1 XP_047284127.1:p.Ala564= A (Ala) > A (Ala) Synonymous Variant
ADCY6 transcript variant X2 XM_047428172.1:c.1692C>T A [GCC] > A [GCT] Coding Sequence Variant
adenylate cyclase type 6 isoform X1 XP_047284128.1:p.Ala564= A (Ala) > A (Ala) Synonymous Variant
ADCY6 transcript variant X2 XM_047428172.1:c.1692C>G A [GCC] > A [GCG] Coding Sequence Variant
adenylate cyclase type 6 isoform X1 XP_047284128.1:p.Ala564= A (Ala) > A (Ala) Synonymous Variant
ADCY6 transcript variant X1 XM_006719210.5:c.1692C>T A [GCC] > A [GCT] Coding Sequence Variant
adenylate cyclase type 6 isoform X1 XP_006719273.1:p.Ala564= A (Ala) > A (Ala) Synonymous Variant
ADCY6 transcript variant X1 XM_006719210.5:c.1692C>G A [GCC] > A [GCG] Coding Sequence Variant
adenylate cyclase type 6 isoform X1 XP_006719273.1:p.Ala564= A (Ala) > A (Ala) Synonymous Variant
ADCY6 transcript variant X2 XM_047428173.1:c.1692C>T A [GCC] > A [GCT] Coding Sequence Variant
adenylate cyclase type 6 isoform X1 XP_047284129.1:p.Ala564= A (Ala) > A (Ala) Synonymous Variant
ADCY6 transcript variant X2 XM_047428173.1:c.1692C>G A [GCC] > A [GCG] Coding Sequence Variant
adenylate cyclase type 6 isoform X1 XP_047284129.1:p.Ala564= A (Ala) > A (Ala) Synonymous Variant
ADCY6 transcript variant X3 XM_017018743.2:c.1692C>T A [GCC] > A [GCT] Coding Sequence Variant
adenylate cyclase type 6 isoform X2 XP_016874232.1:p.Ala564= A (Ala) > A (Ala) Synonymous Variant
ADCY6 transcript variant X3 XM_017018743.2:c.1692C>G A [GCC] > A [GCG] Coding Sequence Variant
adenylate cyclase type 6 isoform X2 XP_016874232.1:p.Ala564= A (Ala) > A (Ala) 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: A (allele ID: 713548 )
ClinVar Accession Disease Names Clinical Significance
RCV000972165.4 not provided 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 12 NC_000012.12:g.48776077= NC_000012.12:g.48776077G>A NC_000012.12:g.48776077G>C
GRCh37.p13 chr 12 NC_000012.11:g.49169860= NC_000012.11:g.49169860G>A NC_000012.11:g.49169860G>C
ADCY6 RefSeqGene NG_042166.1:g.18020= NG_042166.1:g.18020C>T NG_042166.1:g.18020C>G
ADCY6 transcript variant 1 NM_015270.5:c.1692= NM_015270.5:c.1692C>T NM_015270.5:c.1692C>G
ADCY6 transcript NM_015270.4:c.1692= NM_015270.4:c.1692C>T NM_015270.4:c.1692C>G
ADCY6 transcript variant 1 NM_015270.3:c.1692= NM_015270.3:c.1692C>T NM_015270.3:c.1692C>G
ADCY6 transcript variant 3 NM_001390831.1:c.1692= NM_001390831.1:c.1692C>T NM_001390831.1:c.1692C>G
ADCY6 transcript variant 2 NM_001390830.1:c.1692= NM_001390830.1:c.1692C>T NM_001390830.1:c.1692C>G
ADCY6 transcript variant X1 XM_006719210.5:c.1692= XM_006719210.5:c.1692C>T XM_006719210.5:c.1692C>G
ADCY6 transcript variant X1 XM_006719210.4:c.1692= XM_006719210.4:c.1692C>T XM_006719210.4:c.1692C>G
ADCY6 transcript variant X1 XM_006719210.3:c.1692= XM_006719210.3:c.1692C>T XM_006719210.3:c.1692C>G
ADCY6 transcript variant X1 XM_006719210.2:c.1692= XM_006719210.2:c.1692C>T XM_006719210.2:c.1692C>G
ADCY6 transcript variant X3 XM_006719210.1:c.1692= XM_006719210.1:c.1692C>T XM_006719210.1:c.1692C>G
ADCY6 transcript variant X3 XM_017018743.2:c.1692= XM_017018743.2:c.1692C>T XM_017018743.2:c.1692C>G
ADCY6 transcript variant X3 XM_017018743.1:c.1692= XM_017018743.1:c.1692C>T XM_017018743.1:c.1692C>G
ADCY6 transcript variant 2 NM_020983.2:c.1692= NM_020983.2:c.1692C>T NM_020983.2:c.1692C>G
ADCY6 transcript variant X2 XM_047428173.1:c.1692= XM_047428173.1:c.1692C>T XM_047428173.1:c.1692C>G
ADCY6 transcript variant X1 XM_047428171.1:c.1692= XM_047428171.1:c.1692C>T XM_047428171.1:c.1692C>G
ADCY6 transcript variant X2 XM_047428172.1:c.1692= XM_047428172.1:c.1692C>T XM_047428172.1:c.1692C>G
adenylate cyclase type 6 isoform 1 NP_056085.1:p.Ala564= NP_056085.1:p.Ala564= NP_056085.1:p.Ala564=
adenylate cyclase type 6 isoform 1 NP_001377760.1:p.Ala564= NP_001377760.1:p.Ala564= NP_001377760.1:p.Ala564=
adenylate cyclase type 6 isoform 2 NP_001377759.1:p.Ala564= NP_001377759.1:p.Ala564= NP_001377759.1:p.Ala564=
adenylate cyclase type 6 isoform X1 XP_006719273.1:p.Ala564= XP_006719273.1:p.Ala564= XP_006719273.1:p.Ala564=
adenylate cyclase type 6 isoform X2 XP_016874232.1:p.Ala564= XP_016874232.1:p.Ala564= XP_016874232.1:p.Ala564=
adenylate cyclase type 6 isoform X1 XP_047284129.1:p.Ala564= XP_047284129.1:p.Ala564= XP_047284129.1:p.Ala564=
adenylate cyclase type 6 isoform X1 XP_047284127.1:p.Ala564= XP_047284127.1:p.Ala564= XP_047284127.1:p.Ala564=
adenylate cyclase type 6 isoform X1 XP_047284128.1:p.Ala564= XP_047284128.1:p.Ala564= XP_047284128.1:p.Ala564=
adenylate cyclase type 6 isoform b NP_066193.1:p.Ala564= NP_066193.1:p.Ala564= NP_066193.1:p.Ala564=
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#.

25 SubSNP, 12 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss342354730 May 09, 2011 (134)
2 1000GENOMES ss488991121 May 04, 2012 (137)
3 TISHKOFF ss563155468 Apr 25, 2013 (138)
4 EVA-GONL ss989515503 Aug 21, 2014 (142)
5 1000GENOMES ss1344940205 Aug 21, 2014 (142)
6 EVA_UK10K_ALSPAC ss1628553605 Apr 01, 2015 (144)
7 EVA_UK10K_TWINSUK ss1671547638 Apr 01, 2015 (144)
8 EVA_EXAC ss1690879903 Apr 01, 2015 (144)
9 WEILL_CORNELL_DGM ss1932880133 Feb 12, 2016 (147)
10 HUMAN_LONGEVITY ss2189629192 Dec 20, 2016 (150)
11 GNOMAD ss2739773573 Nov 08, 2017 (151)
12 GNOMAD ss2748855652 Nov 08, 2017 (151)
13 GNOMAD ss2910275969 Nov 08, 2017 (151)
14 SWEGEN ss3009655476 Nov 08, 2017 (151)
15 EVA ss3824723555 Apr 27, 2020 (154)
16 EVA ss3825820457 Apr 27, 2020 (154)
17 EVA ss3986567884 Apr 26, 2021 (155)
18 TOPMED ss4917616881 Apr 26, 2021 (155)
19 1000G_HIGH_COVERAGE ss5290740621 Oct 16, 2022 (156)
20 EVA ss5405511761 Oct 16, 2022 (156)
21 HUGCELL_USP ss5485501750 Oct 16, 2022 (156)
22 1000G_HIGH_COVERAGE ss5588195548 Oct 16, 2022 (156)
23 EVA ss5837941244 Oct 16, 2022 (156)
24 EVA ss5904316692 Oct 16, 2022 (156)
25 EVA ss5944480282 Oct 16, 2022 (156)
26 1000Genomes NC_000012.11 - 49169860 Oct 12, 2018 (152)
27 1000Genomes_30x NC_000012.12 - 48776077 Oct 16, 2022 (156)
28 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 49169860 Oct 12, 2018 (152)
29 ExAC NC_000012.11 - 49169860 Oct 12, 2018 (152)
30 gnomAD - Genomes NC_000012.12 - 48776077 Apr 26, 2021 (155)
31 gnomAD - Exomes NC_000012.11 - 49169860 Jul 13, 2019 (153)
32 GO Exome Sequencing Project NC_000012.11 - 49169860 Oct 12, 2018 (152)
33 Genome of the Netherlands Release 5 NC_000012.11 - 49169860 Apr 27, 2020 (154)
34 Qatari NC_000012.11 - 49169860 Apr 27, 2020 (154)
35 TopMed NC_000012.12 - 48776077 Apr 26, 2021 (155)
36 UK 10K study - Twins NC_000012.11 - 49169860 Oct 12, 2018 (152)
37 ALFA NC_000012.12 - 48776077 Apr 26, 2021 (155)
38 ClinVar RCV000972165.4 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
57686175, 32033355, 1175282, 9002797, 1181034, 14296513, 14922063, 32033355, ss342354730, ss488991121, ss563155468, ss989515503, ss1344940205, ss1628553605, ss1671547638, ss1690879903, ss1932880133, ss2739773573, ss2748855652, ss2910275969, ss3009655476, ss3824723555, ss3825820457, ss3986567884, ss5405511761, ss5837941244, ss5944480282 NC_000012.11:49169859:G:A NC_000012.12:48776076:G:A (self)
RCV000972165.4, 75721483, 406758047, 133162538, 1432595332, ss2189629192, ss4917616881, ss5290740621, ss5485501750, ss5588195548, ss5904316692 NC_000012.12:48776076:G:A NC_000012.12:48776076:G:A (self)
1432595332 NC_000012.12:48776076:G:C NC_000012.12:48776076: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.

No publications for rs144153450

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