Name: rs322736
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.

rs322736

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:128146046 (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=0.329461 (87205/264690, TOPMED)
T=0.31945 (9027/28258, 14KJPN)
T=0.31758 (5322/16758, 8.3KJPN) (+ 15 more)
T=0.4195 (3661/8728, ALFA)
A=0.3403 (2179/6404, 1000G_30x)
A=0.3542 (1774/5008, 1000G)
T=0.4808 (2154/4480, Estonian)
A=0.4489 (1730/3854, ALSPAC)
A=0.4380 (1624/3708, TWINSUK)
T=0.4133 (1211/2930, KOREAN)
A=0.471 (470/998, GoNL)
T=0.452 (271/600, NorthernSweden)
A=0.268 (121/452, SGDP_PRJ)
A=0.380 (124/326, HapMap)
A=0.366 (79/216, Qatari)
T=0.310 (67/216, Vietnamese)
A=0.33 (15/46, Siberian)
A=0.42 (17/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
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	8728	A=0.5805	C=0.0000, G=0.0000, T=0.4195
European	Sub	8074	A=0.5778	C=0.0000, G=0.0000, T=0.4222
African	Sub	176	A=0.330	C=0.000, G=0.000, T=0.670
African Others	Sub	6	A=0.0	C=0.0, G=0.0, T=1.0
African American	Sub	170	A=0.341	C=0.000, G=0.000, T=0.659
Asian	Sub	48	A=0.94	C=0.00, G=0.00, T=0.06
East Asian	Sub	36	A=0.94	C=0.00, G=0.00, T=0.06
Other Asian	Sub	12	A=0.92	C=0.00, G=0.00, T=0.08
Latin American 1	Sub	26	A=1.00	C=0.00, G=0.00, T=0.00
Latin American 2	Sub	100	A=1.00	C=0.00, G=0.00, T=0.00
South Asian	Sub	24	A=0.92	C=0.00, G=0.00, T=0.08
Other	Sub	280	A=0.539	C=0.000, G=0.000, T=0.461

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	A=0.329461	T=0.670539
14KJPN	JAPANESE	Study-wide	28258	A=0.68055	T=0.31945
8.3KJPN	JAPANESE	Study-wide	16758	A=0.68242	T=0.31758
Allele Frequency Aggregator	Total	Global	8728	A=0.5805	C=0.0000, G=0.0000, T=0.4195
Allele Frequency Aggregator	European	Sub	8074	A=0.5778	C=0.0000, G=0.0000, T=0.4222
Allele Frequency Aggregator	Other	Sub	280	A=0.539	C=0.000, G=0.000, T=0.461
Allele Frequency Aggregator	African	Sub	176	A=0.330	C=0.000, G=0.000, T=0.670
Allele Frequency Aggregator	Latin American 2	Sub	100	A=1.00	C=0.00, G=0.00, T=0.00
Allele Frequency Aggregator	Asian	Sub	48	A=0.94	C=0.00, G=0.00, T=0.06
Allele Frequency Aggregator	Latin American 1	Sub	26	A=1.00	C=0.00, G=0.00, T=0.00
Allele Frequency Aggregator	South Asian	Sub	24	A=0.92	C=0.00, G=0.00, T=0.08
1000Genomes_30x	Global	Study-wide	6404	A=0.3403	T=0.6597
1000Genomes_30x	African	Sub	1786	A=0.0448	T=0.9552
1000Genomes_30x	Europe	Sub	1266	A=0.4400	T=0.5600
1000Genomes_30x	South Asian	Sub	1202	A=0.4018	T=0.5982
1000Genomes_30x	East Asian	Sub	1170	A=0.6256	T=0.3744
1000Genomes_30x	American	Sub	980	A=0.334	T=0.666
1000Genomes	Global	Study-wide	5008	A=0.3542	T=0.6458
1000Genomes	African	Sub	1322	A=0.0461	T=0.9539
1000Genomes	East Asian	Sub	1008	A=0.6369	T=0.3631
1000Genomes	Europe	Sub	1006	A=0.4433	T=0.5567
1000Genomes	South Asian	Sub	978	A=0.399	T=0.601
1000Genomes	American	Sub	694	A=0.339	T=0.661
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.5192	T=0.4808
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.4489	T=0.5511
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.4380	T=0.5620
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.5867	T=0.4133
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.471	T=0.529
Northern Sweden	ACPOP	Study-wide	600	A=0.548	T=0.452
SGDP_PRJ	Global	Study-wide	452	A=0.268	T=0.732
HapMap	Global	Study-wide	326	A=0.380	T=0.620
HapMap	American	Sub	120	A=0.475	T=0.525
HapMap	African	Sub	116	A=0.052	T=0.948
HapMap	Asian	Sub	90	A=0.68	T=0.32
Qatari	Global	Study-wide	216	A=0.366	T=0.634
A Vietnamese Genetic Variation Database	Global	Study-wide	216	A=0.690	T=0.310
Siberian	Global	Study-wide	46	A=0.33	T=0.67
The Danish reference pan genome	Danish	Study-wide	40	A=0.42	T=0.57

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.128146046A>C
GRCh38.p14 chr 7	NC_000007.14:g.128146046A>G
GRCh38.p14 chr 7	NC_000007.14:g.128146046A>T
GRCh37.p13 chr 7	NC_000007.13:g.127786098A>C
GRCh37.p13 chr 7	NC_000007.13:g.127786098A>G
GRCh37.p13 chr 7	NC_000007.13:g.127786098A>T

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	A=	C	G	T
GRCh38.p14 chr 7	NC_000007.14:g.128146046=	NC_000007.14:g.128146046A>C	NC_000007.14:g.128146046A>G	NC_000007.14:g.128146046A>T
GRCh37.p13 chr 7	NC_000007.13:g.127786098=	NC_000007.13:g.127786098A>C	NC_000007.13:g.127786098A>G	NC_000007.13:g.127786098A>T

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#.

72 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss412801	Jul 12, 2000 (79)
2	KWOK	ss1684481	Oct 18, 2000 (89)
3	SC_JCM	ss3654181	Sep 28, 2001 (100)
4	CSHL-HAPMAP	ss17173372	Feb 27, 2004 (120)
5	SSAHASNP	ss22516995	Apr 05, 2004 (121)
6	SSAHASNP	ss22888158	Apr 05, 2004 (121)
7	HGSV	ss82153945	Dec 14, 2007 (130)
8	HGSV	ss84540119	Dec 14, 2007 (130)
9	1000GENOMES	ss112523243	Jan 25, 2009 (130)
10	1000GENOMES	ss114416386	Jan 25, 2009 (130)
11	ILLUMINA-UK	ss116303963	Feb 14, 2009 (130)
12	COMPLETE_GENOMICS	ss162705193	Jul 04, 2010 (132)
13	COMPLETE_GENOMICS	ss165378117	Jul 04, 2010 (132)
14	COMPLETE_GENOMICS	ss167097706	Jul 04, 2010 (132)
15	BUSHMAN	ss198255002	Jul 04, 2010 (132)
16	BCM-HGSC-SUB	ss208282817	Jul 04, 2010 (132)
17	1000GENOMES	ss223326715	Jul 14, 2010 (132)
18	1000GENOMES	ss234163506	Jul 15, 2010 (132)
19	1000GENOMES	ss241078011	Jul 15, 2010 (132)
20	BL	ss254668695	May 09, 2011 (134)
21	GMI	ss279526754	May 04, 2012 (137)
22	GMI	ss285716738	Apr 25, 2013 (138)
23	PJP	ss293964103	May 09, 2011 (134)
24	TISHKOFF	ss560298252	Apr 25, 2013 (138)
25	SSMP	ss654707188	Apr 25, 2013 (138)
26	EVA-GONL	ss984789347	Aug 21, 2014 (142)
27	JMKIDD_LAB	ss1074975811	Aug 21, 2014 (142)
28	1000GENOMES	ss1327107707	Aug 21, 2014 (142)
29	DDI	ss1431276770	Apr 01, 2015 (144)
30	EVA_GENOME_DK	ss1582398049	Apr 01, 2015 (144)
31	EVA_DECODE	ss1594378224	Apr 01, 2015 (144)
32	EVA_UK10K_ALSPAC	ss1619200377	Apr 01, 2015 (144)
33	EVA_UK10K_TWINSUK	ss1662194410	Apr 01, 2015 (144)
34	HAMMER_LAB	ss1805215658	Sep 08, 2015 (146)
35	WEILL_CORNELL_DGM	ss1928047295	Feb 12, 2016 (147)
36	GENOMED	ss1970814996	Jul 19, 2016 (147)
37	JJLAB	ss2024711453	Sep 14, 2016 (149)
38	USC_VALOUEV	ss2152932405	Dec 20, 2016 (150)
39	HUMAN_LONGEVITY	ss2297805519	Dec 20, 2016 (150)
40	SYSTEMSBIOZJU	ss2626843175	Nov 08, 2017 (151)
41	GRF	ss2708650407	Nov 08, 2017 (151)
42	GNOMAD	ss2859027430	Nov 08, 2017 (151)
43	SWEGEN	ss3002020173	Nov 08, 2017 (151)
44	BIOINF_KMB_FNS_UNIBA	ss3026145006	Nov 08, 2017 (151)
45	CSHL	ss3347839255	Nov 08, 2017 (151)
46	EGCUT_WGS	ss3669779523	Jul 13, 2019 (153)
47	EVA_DECODE	ss3720675667	Jul 13, 2019 (153)
48	ACPOP	ss3735064057	Jul 13, 2019 (153)
49	EVA	ss3767151160	Jul 13, 2019 (153)
50	PACBIO	ss3785954938	Jul 13, 2019 (153)
51	PACBIO	ss3791234345	Jul 13, 2019 (153)
52	PACBIO	ss3796114491	Jul 13, 2019 (153)
53	KHV_HUMAN_GENOMES	ss3810321316	Jul 13, 2019 (153)
54	EVA	ss3830815785	Apr 26, 2020 (154)
55	EVA	ss3838906587	Apr 26, 2020 (154)
56	EVA	ss3844362937	Apr 26, 2020 (154)
57	SGDP_PRJ	ss3868382169	Apr 26, 2020 (154)
58	KRGDB	ss3915726548	Apr 26, 2020 (154)
59	TOPMED	ss4763523062	Apr 26, 2021 (155)
60	TOMMO_GENOMICS	ss5185547778	Apr 26, 2021 (155)
61	1000G_HIGH_COVERAGE	ss5274712243	Oct 13, 2022 (156)
62	EVA	ss5376736849	Oct 13, 2022 (156)
63	HUGCELL_USP	ss5471602384	Oct 13, 2022 (156)
64	EVA	ss5509136379	Oct 13, 2022 (156)
65	1000G_HIGH_COVERAGE	ss5563860608	Oct 13, 2022 (156)
66	SANFORD_IMAGENETICS	ss5643973475	Oct 13, 2022 (156)
67	TOMMO_GENOMICS	ss5726528633	Oct 13, 2022 (156)
68	YY_MCH	ss5809086200	Oct 13, 2022 (156)
69	EVA	ss5823514771	Oct 13, 2022 (156)
70	EVA	ss5856093755	Oct 13, 2022 (156)
71	EVA	ss5860856499	Oct 13, 2022 (156)
72	EVA	ss5973171542	Oct 13, 2022 (156)
73	1000Genomes	NC_000007.13 - 127786098	Oct 12, 2018 (152)
74	1000Genomes_30x	NC_000007.14 - 128146046	Oct 13, 2022 (156)
75	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 127786098	Oct 12, 2018 (152)
76	Genetic variation in the Estonian population	NC_000007.13 - 127786098	Oct 12, 2018 (152)
77	The Danish reference pan genome	NC_000007.13 - 127786098	Apr 26, 2020 (154)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 276447522 (NC_000007.14:128146045:A:C 1/140080) Row 276447523 (NC_000007.14:128146045:A:T 91834/140040)	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 276447522 (NC_000007.14:128146045:A:C 1/140080) Row 276447523 (NC_000007.14:128146045:A:T 91834/140040)	-	Apr 26, 2021 (155)
80	Genome of the Netherlands Release 5	NC_000007.13 - 127786098	Apr 26, 2020 (154)
81	HapMap	NC_000007.14 - 128146046	Apr 26, 2020 (154)
82	KOREAN population from KRGDB	NC_000007.13 - 127786098	Apr 26, 2020 (154)
83	Northern Sweden	NC_000007.13 - 127786098	Jul 13, 2019 (153)
84	Qatari	NC_000007.13 - 127786098	Apr 26, 2020 (154)
85	SGDP_PRJ	NC_000007.13 - 127786098	Apr 26, 2020 (154)
86	Siberian	NC_000007.13 - 127786098	Apr 26, 2020 (154)
87	8.3KJPN	NC_000007.13 - 127786098	Apr 26, 2021 (155)
88	14KJPN	NC_000007.14 - 128146046	Oct 13, 2022 (156)
89	TopMed	NC_000007.14 - 128146046	Apr 26, 2021 (155)
90	UK 10K study - Twins	NC_000007.13 - 127786098	Oct 12, 2018 (152)
91	A Vietnamese Genetic Variation Database	NC_000007.13 - 127786098	Jul 13, 2019 (153)
92	ALFA	NC_000007.14 - 128146046	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).

Associated ID	History Updated (Build)
rs1193493	Nov 09, 2000 (89)
rs56908926	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
13060936254	NC_000007.14:128146045:A:C	NC_000007.14:128146045:A:C	(self)
13060936254	NC_000007.14:128146045:A:G	NC_000007.14:128146045:A:G	(self)
ss82153945, ss84540119	NC_000007.11:127380048:A:T	NC_000007.14:128146045:A:T	(self)
ss112523243, ss114416386, ss116303963, ss162705193, ss165378117, ss167097706, ss198255002, ss208282817, ss254668695, ss279526754, ss285716738, ss293964103, ss1594378224	NC_000007.12:127573333:A:T	NC_000007.14:128146045:A:T	(self)
39150336, 21782981, 15517771, 8562987, 9720505, 22903942, 8348922, 10089225, 20399149, 5448759, 43517085, 21782981, 4853401, ss223326715, ss234163506, ss241078011, ss560298252, ss654707188, ss984789347, ss1074975811, ss1327107707, ss1431276770, ss1582398049, ss1619200377, ss1662194410, ss1805215658, ss1928047295, ss1970814996, ss2024711453, ss2152932405, ss2626843175, ss2708650407, ss2859027430, ss3002020173, ss3347839255, ss3669779523, ss3735064057, ss3767151160, ss3785954938, ss3791234345, ss3796114491, ss3830815785, ss3838906587, ss3868382169, ss3915726548, ss5185547778, ss5376736849, ss5509136379, ss5643973475, ss5823514771, ss5973171542	NC_000007.13:127786097:A:T	NC_000007.14:128146045:A:T	(self)
51386543, 3492415, 60365737, 600900621, 13060936254, ss2297805519, ss3026145006, ss3720675667, ss3810321316, ss3844362937, ss4763523062, ss5274712243, ss5471602384, ss5563860608, ss5726528633, ss5809086200, ss5856093755, ss5860856499	NC_000007.14:128146045:A:T	NC_000007.14:128146045:A:T	(self)
ss17173372, ss22516995, ss22888158	NT_007933.13:52962250:T:T	NC_000007.14:128146045:A:T	(self)
ss412801, ss1684481, ss3654181	NT_007933.15:65818940:A:T	NC_000007.14:128146045:A:T	(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 rs322736

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
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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

rs322736