Name: rs73117933
Published: September 21, 2022
License: Open Access

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.

rs73117933

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:45634525 (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: T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.006468 (1712/264690, TOPMED)
C=0.007759 (1087/140096, GnomAD)
C=0.00950 (287/30216, ALFA) (+ 12 more)
C=0.0047 (30/6404, 1000G_30x)
C=0.0054 (27/5008, 1000G)
C=0.0083 (37/4480, Estonian)
C=0.0122 (47/3854, ALSPAC)
C=0.0135 (50/3708, TWINSUK)
C=0.014 (14/998, GoNL)
C=0.007 (4/600, NorthernSweden)
C=0.009 (2/216, Qatari)
T=0.5 (3/6, SGDP_PRJ)
C=0.5 (3/6, SGDP_PRJ)
T=0.5 (1/2, Siberian)
C=0.5 (1/2, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ADCY1 : 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	30216	T=0.99050	C=0.00950
European	Sub	24732	T=0.98924	C=0.01076
African	Sub	3168	T=0.9981	C=0.0019
African Others	Sub	124	T=1.000	C=0.000
African American	Sub	3044	T=0.9980	C=0.0020
Asian	Sub	128	T=1.000	C=0.000
East Asian	Sub	100	T=1.00	C=0.00
Other Asian	Sub	28	T=1.00	C=0.00
Latin American 1	Sub	168	T=0.994	C=0.006
Latin American 2	Sub	700	T=0.993	C=0.007
South Asian	Sub	114	T=0.991	C=0.009
Other	Sub	1206	T=0.9934	C=0.0066

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	T=0.993532	C=0.006468
gnomAD - Genomes	Global	Study-wide	140096	T=0.992241	C=0.007759
gnomAD - Genomes	European	Sub	75856	T=0.98790	C=0.01210
gnomAD - Genomes	African	Sub	41996	T=0.99781	C=0.00219
gnomAD - Genomes	American	Sub	13642	T=0.99568	C=0.00432
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	T=0.9991	C=0.0009
gnomAD - Genomes	East Asian	Sub	3132	T=1.0000	C=0.0000
gnomAD - Genomes	Other	Sub	2152	T=0.9930	C=0.0070
Allele Frequency Aggregator	Total	Global	30216	T=0.99050	C=0.00950
Allele Frequency Aggregator	European	Sub	24732	T=0.98924	C=0.01076
Allele Frequency Aggregator	African	Sub	3168	T=0.9981	C=0.0019
Allele Frequency Aggregator	Other	Sub	1206	T=0.9934	C=0.0066
Allele Frequency Aggregator	Latin American 2	Sub	700	T=0.993	C=0.007
Allele Frequency Aggregator	Latin American 1	Sub	168	T=0.994	C=0.006
Allele Frequency Aggregator	Asian	Sub	128	T=1.000	C=0.000
Allele Frequency Aggregator	South Asian	Sub	114	T=0.991	C=0.009
1000Genomes_30x	Global	Study-wide	6404	T=0.9953	C=0.0047
1000Genomes_30x	African	Sub	1786	T=0.9989	C=0.0011
1000Genomes_30x	Europe	Sub	1266	T=0.9810	C=0.0190
1000Genomes_30x	South Asian	Sub	1202	T=0.9983	C=0.0017
1000Genomes_30x	East Asian	Sub	1170	T=1.0000	C=0.0000
1000Genomes_30x	American	Sub	980	T=0.998	C=0.002
1000Genomes	Global	Study-wide	5008	T=0.9946	C=0.0054
1000Genomes	African	Sub	1322	T=0.9985	C=0.0015
1000Genomes	East Asian	Sub	1008	T=1.0000	C=0.0000
1000Genomes	Europe	Sub	1006	T=0.9791	C=0.0209
1000Genomes	South Asian	Sub	978	T=0.997	C=0.003
1000Genomes	American	Sub	694	T=0.999	C=0.001
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.9917	C=0.0083
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.9878	C=0.0122
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.9865	C=0.0135
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.986	C=0.014
Northern Sweden	ACPOP	Study-wide	600	T=0.993	C=0.007
Qatari	Global	Study-wide	216	T=0.991	C=0.009
SGDP_PRJ	Global	Study-wide	6	T=0.5	C=0.5
Siberian	Global	Study-wide	2	T=0.5	C=0.5

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.45634525T>C
GRCh37.p13 chr 7	NC_000007.13:g.45674124T>C
ADCY1 RefSeqGene (LRG_1172)	NG_034198.1:g.65386T>C

Gene: ADCY1, adenylate cyclase 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ADCY1 transcript variant 2	NM_001281768.2:c.345+1178… NM_001281768.2:c.345+11782T>C	N/A	Intron Variant
ADCY1 transcript variant 1	NM_021116.4:c.1020+11782T… NM_021116.4:c.1020+11782T>C	N/A	Intron Variant
ADCY1 transcript variant X1	XM_005249584.4:c.1020+117… XM_005249584.4:c.1020+11782T>C	N/A	Intron Variant
ADCY1 transcript variant X2	XM_005249585.3:c.1020+117… XM_005249585.3:c.1020+11782T>C	N/A	Intron Variant

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

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	T=	C
GRCh38.p14 chr 7	NC_000007.14:g.45634525=	NC_000007.14:g.45634525T>C
GRCh37.p13 chr 7	NC_000007.13:g.45674124=	NC_000007.13:g.45674124T>C
ADCY1 RefSeqGene (LRG_1172)	NG_034198.1:g.65386=	NG_034198.1:g.65386T>C
ADCY1 transcript variant 2	NM_001281768.2:c.345+11782=	NM_001281768.2:c.345+11782T>C
ADCY1 transcript variant 1	NM_021116.2:c.1020+11782=	NM_021116.2:c.1020+11782T>C
ADCY1 transcript variant 1	NM_021116.4:c.1020+11782=	NM_021116.4:c.1020+11782T>C
ADCY1 transcript variant X1	XM_005249584.1:c.1020+11782=	XM_005249584.1:c.1020+11782T>C
ADCY1 transcript variant X1	XM_005249584.4:c.1020+11782=	XM_005249584.4:c.1020+11782T>C
ADCY1 transcript variant X2	XM_005249585.1:c.1020+11782=	XM_005249585.1:c.1020+11782T>C
ADCY1 transcript variant X2	XM_005249585.3:c.1020+11782=	XM_005249585.3:c.1020+11782T>C

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#.

39 SubSNP, 13 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	1000GENOMES	ss111914007	Feb 14, 2009 (130)
2	1000GENOMES	ss233954868	Jul 15, 2010 (132)
3	ILLUMINA	ss479153166	May 04, 2012 (137)
4	ILLUMINA	ss485440874	May 04, 2012 (137)
5	ILLUMINA	ss532749695	Sep 08, 2015 (146)
6	ILLUMINA	ss779533319	Aug 21, 2014 (142)
7	ILLUMINA	ss780910178	Aug 21, 2014 (142)
8	ILLUMINA	ss835003903	Aug 21, 2014 (142)
9	EVA-GONL	ss984221955	Aug 21, 2014 (142)
10	1000GENOMES	ss1324926725	Aug 21, 2014 (142)
11	EVA_DECODE	ss1593797797	Apr 01, 2015 (144)
12	EVA_UK10K_ALSPAC	ss1618105819	Apr 01, 2015 (144)
13	EVA_UK10K_TWINSUK	ss1661099852	Apr 01, 2015 (144)
14	WEILL_CORNELL_DGM	ss1927465929	Feb 12, 2016 (147)
15	CSHL	ss2136746703	Nov 08, 2017 (151)
16	USC_VALOUEV	ss2152611360	Dec 20, 2016 (150)
17	HUMAN_LONGEVITY	ss2293634937	Dec 20, 2016 (150)
18	ILLUMINA	ss2634600605	Nov 08, 2017 (151)
19	GNOMAD	ss2852577409	Nov 08, 2017 (151)
20	SWEGEN	ss3001034790	Nov 08, 2017 (151)
21	CSHL	ss3347559166	Nov 08, 2017 (151)
22	ILLUMINA	ss3629807610	Oct 12, 2018 (152)
23	ILLUMINA	ss3632508366	Oct 12, 2018 (152)
24	ILLUMINA	ss3642560391	Oct 12, 2018 (152)
25	EGCUT_WGS	ss3668956778	Jul 13, 2019 (153)
26	EVA_DECODE	ss3719594953	Jul 13, 2019 (153)
27	ACPOP	ss3734585031	Jul 13, 2019 (153)
28	EVA	ss3766499727	Jul 13, 2019 (153)
29	EVA	ss3830545875	Apr 26, 2020 (154)
30	SGDP_PRJ	ss3867161487	Apr 26, 2020 (154)
31	TOPMED	ss4744247884	Apr 26, 2021 (155)
32	1000G_HIGH_COVERAGE	ss5272701267	Oct 13, 2022 (156)
33	EVA	ss5373237447	Oct 13, 2022 (156)
34	HUGCELL_USP	ss5469893286	Oct 13, 2022 (156)
35	1000G_HIGH_COVERAGE	ss5560778882	Oct 13, 2022 (156)
36	SANFORD_IMAGENETICS	ss5642847467	Oct 13, 2022 (156)
37	EVA	ss5822752400	Oct 13, 2022 (156)
38	EVA	ss5858705829	Oct 13, 2022 (156)
39	EVA	ss5972060637	Oct 13, 2022 (156)
40	1000Genomes	NC_000007.13 - 45674124	Oct 12, 2018 (152)
41	1000Genomes_30x	NC_000007.14 - 45634525	Oct 13, 2022 (156)
42	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 45674124	Oct 12, 2018 (152)
43	Genetic variation in the Estonian population	NC_000007.13 - 45674124	Oct 12, 2018 (152)
44	gnomAD - Genomes	NC_000007.14 - 45634525	Apr 26, 2021 (155)
45	Genome of the Netherlands Release 5	NC_000007.13 - 45674124	Apr 26, 2020 (154)
46	Northern Sweden	NC_000007.13 - 45674124	Jul 13, 2019 (153)
47	Qatari	NC_000007.13 - 45674124	Apr 26, 2020 (154)
48	SGDP_PRJ	NC_000007.13 - 45674124	Apr 26, 2020 (154)
49	Siberian	NC_000007.13 - 45674124	Apr 26, 2020 (154)
50	TopMed	NC_000007.14 - 45634525	Apr 26, 2021 (155)
51	UK 10K study - Twins	NC_000007.13 - 45674124	Oct 12, 2018 (152)
52	ALFA	NC_000007.14 - 45634525	Apr 26, 2021 (155)

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
ss111914007, ss485440874, ss1593797797, ss2136746703	NC_000007.12:45640648:T:C	NC_000007.14:45634524:T:C	(self)
36889616, 20573060, 14695026, 9173602, 7869896, 9507859, 19178467, 5127714, 20573060, ss233954868, ss479153166, ss532749695, ss779533319, ss780910178, ss835003903, ss984221955, ss1324926725, ss1618105819, ss1661099852, ss1927465929, ss2152611360, ss2634600605, ss2852577409, ss3001034790, ss3347559166, ss3629807610, ss3632508366, ss3642560391, ss3668956778, ss3734585031, ss3766499727, ss3830545875, ss3867161487, ss5373237447, ss5642847467, ss5822752400, ss5972060637	NC_000007.13:45674123:T:C	NC_000007.14:45634524:T:C	(self)
48304817, 260057722, 581625443, 15304111563, ss2293634937, ss3719594953, ss4744247884, ss5272701267, ss5469893286, ss5560778882, ss5858705829	NC_000007.14:45634524:T:C	NC_000007.14:45634524:T:C	(self)

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

No publications for rs73117933

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs73117933