Name: rs1320756
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.

rs1320756

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:189947826 (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>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.482939 (127829/264690, TOPMED)
A=0.466002 (65176/139862, GnomAD)
C=0.40505 (11445/28256, 14KJPN) (+ 16 more)
A=0.44569 (8017/17988, ALFA)
C=0.40394 (6770/16760, 8.3KJPN)
C=0.4647 (2976/6404, 1000G_30x)
C=0.4605 (2306/5008, 1000G)
A=0.3609 (1617/4480, Estonian)
A=0.4600 (1773/3854, ALSPAC)
A=0.4563 (1692/3708, TWINSUK)
C=0.3816 (1118/2930, KOREAN)
C=0.4023 (737/1832, Korea1K)
A=0.444 (443/998, GoNL)
C=0.488 (293/600, NorthernSweden)
A=0.327 (115/352, SGDP_PRJ)
A=0.486 (105/216, Qatari)
C=0.343 (74/216, Vietnamese)
A=0.25 (11/44, Siberian)
A=0.47 (19/40, 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	17988	A=0.44569	C=0.55431, T=0.00000
European	Sub	13770	A=0.42520	C=0.57480, T=0.00000
African	Sub	2562	A=0.5207	C=0.4793, T=0.0000
African Others	Sub	102	A=0.569	C=0.431, T=0.000
African American	Sub	2460	A=0.5187	C=0.4813, T=0.0000
Asian	Sub	112	A=0.562	C=0.438, T=0.000
East Asian	Sub	86	A=0.56	C=0.44, T=0.00
Other Asian	Sub	26	A=0.58	C=0.42, T=0.00
Latin American 1	Sub	146	A=0.500	C=0.500, T=0.000
Latin American 2	Sub	610	A=0.495	C=0.505, T=0.000
South Asian	Sub	98	A=0.58	C=0.42, T=0.00
Other	Sub	690	A=0.483	C=0.517, T=0.000

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=0.482939	C=0.517061
gnomAD - Genomes	Global	Study-wide	139862	A=0.466002	C=0.533998
gnomAD - Genomes	European	Sub	75758	A=0.43891	C=0.56109
gnomAD - Genomes	African	Sub	41938	A=0.48855	C=0.51145
gnomAD - Genomes	American	Sub	13572	A=0.50391	C=0.49609
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	A=0.4708	C=0.5292
gnomAD - Genomes	East Asian	Sub	3122	A=0.6156	C=0.3844
gnomAD - Genomes	Other	Sub	2148	A=0.5168	C=0.4832
14KJPN	JAPANESE	Study-wide	28256	A=0.59495	C=0.40505
Allele Frequency Aggregator	Total	Global	17988	A=0.44569	C=0.55431, T=0.00000
Allele Frequency Aggregator	European	Sub	13770	A=0.42520	C=0.57480, T=0.00000
Allele Frequency Aggregator	African	Sub	2562	A=0.5207	C=0.4793, T=0.0000
Allele Frequency Aggregator	Other	Sub	690	A=0.483	C=0.517, T=0.000
Allele Frequency Aggregator	Latin American 2	Sub	610	A=0.495	C=0.505, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	A=0.500	C=0.500, T=0.000
Allele Frequency Aggregator	Asian	Sub	112	A=0.562	C=0.438, T=0.000
Allele Frequency Aggregator	South Asian	Sub	98	A=0.58	C=0.42, T=0.00
8.3KJPN	JAPANESE	Study-wide	16760	A=0.59606	C=0.40394
1000Genomes_30x	Global	Study-wide	6404	A=0.5353	C=0.4647
1000Genomes_30x	African	Sub	1786	A=0.4770	C=0.5230
1000Genomes_30x	Europe	Sub	1266	A=0.4526	C=0.5474
1000Genomes_30x	South Asian	Sub	1202	A=0.5707	C=0.4293
1000Genomes_30x	East Asian	Sub	1170	A=0.6256	C=0.3744
1000Genomes_30x	American	Sub	980	A=0.597	C=0.403
1000Genomes	Global	Study-wide	5008	A=0.5395	C=0.4605
1000Genomes	African	Sub	1322	A=0.4690	C=0.5310
1000Genomes	East Asian	Sub	1008	A=0.6240	C=0.3760
1000Genomes	Europe	Sub	1006	A=0.4573	C=0.5427
1000Genomes	South Asian	Sub	978	A=0.587	C=0.413
1000Genomes	American	Sub	694	A=0.604	C=0.396
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.3609	C=0.6391
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.4600	C=0.5400
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.4563	C=0.5437
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.6184	C=0.3816, T=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	A=0.5977	C=0.4023
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.444	C=0.556
Northern Sweden	ACPOP	Study-wide	600	A=0.512	C=0.488
SGDP_PRJ	Global	Study-wide	352	A=0.327	C=0.673
Qatari	Global	Study-wide	216	A=0.486	C=0.514
A Vietnamese Genetic Variation Database	Global	Study-wide	216	A=0.657	C=0.343
Siberian	Global	Study-wide	44	A=0.25	C=0.75
The Danish reference pan genome	Danish	Study-wide	40	A=0.47	C=0.53

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 1	NC_000001.11:g.189947826A>C
GRCh38.p14 chr 1	NC_000001.11:g.189947826A>T
GRCh37.p13 chr 1	NC_000001.10:g.189916956A>C
GRCh37.p13 chr 1	NC_000001.10:g.189916956A>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	T
GRCh38.p14 chr 1	NC_000001.11:g.189947826=	NC_000001.11:g.189947826A>C	NC_000001.11:g.189947826A>T
GRCh37.p13 chr 1	NC_000001.10:g.189916956=	NC_000001.10:g.189916956A>C	NC_000001.10:g.189916956A>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#.

70 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss2089185	Oct 23, 2000 (88)
2	SSAHASNP	ss20564847	Apr 05, 2004 (121)
3	PERLEGEN	ss24237991	Sep 20, 2004 (123)
4	ABI	ss39683715	Mar 14, 2006 (126)
5	BCMHGSC_JDW	ss87909652	Mar 23, 2008 (129)
6	HUMANGENOME_JCVI	ss99271588	Feb 06, 2009 (130)
7	BGI	ss102806691	Dec 01, 2009 (131)
8	1000GENOMES	ss108796172	Jan 23, 2009 (130)
9	ILLUMINA-UK	ss119147406	Feb 15, 2009 (130)
10	ENSEMBL	ss131725798	Dec 01, 2009 (131)
11	COMPLETE_GENOMICS	ss165589585	Jul 04, 2010 (132)
12	COMPLETE_GENOMICS	ss167382813	Jul 04, 2010 (132)
13	BUSHMAN	ss199391341	Jul 04, 2010 (132)
14	BCM-HGSC-SUB	ss205179204	Jul 04, 2010 (132)
15	1000GENOMES	ss210696616	Jul 14, 2010 (132)
16	1000GENOMES	ss218784753	Jul 14, 2010 (132)
17	1000GENOMES	ss230828630	Jul 14, 2010 (132)
18	1000GENOMES	ss238455416	Jul 15, 2010 (132)
19	GMI	ss276144999	May 04, 2012 (137)
20	PJP	ss290687527	May 09, 2011 (134)
21	TISHKOFF	ss554974513	Apr 25, 2013 (138)
22	SSMP	ss648576416	Apr 25, 2013 (138)
23	EVA-GONL	ss975942211	Aug 21, 2014 (142)
24	JMKIDD_LAB	ss1068459411	Aug 21, 2014 (142)
25	1000GENOMES	ss1293907741	Aug 21, 2014 (142)
26	DDI	ss1426054701	Apr 01, 2015 (144)
27	EVA_GENOME_DK	ss1574555317	Apr 01, 2015 (144)
28	EVA_DECODE	ss1585335443	Apr 01, 2015 (144)
29	EVA_UK10K_ALSPAC	ss1601738416	Apr 01, 2015 (144)
30	EVA_UK10K_TWINSUK	ss1644732449	Apr 01, 2015 (144)
31	HAMMER_LAB	ss1795459435	Sep 08, 2015 (146)
32	WEILL_CORNELL_DGM	ss1919177141	Feb 12, 2016 (147)
33	GENOMED	ss1966926827	Jul 19, 2016 (147)
34	JJLAB	ss2020105794	Sep 14, 2016 (149)
35	USC_VALOUEV	ss2148132919	Dec 20, 2016 (150)
36	HUMAN_LONGEVITY	ss2168556275	Dec 20, 2016 (150)
37	SYSTEMSBIOZJU	ss2624560853	Nov 08, 2017 (151)
38	GRF	ss2698118667	Nov 08, 2017 (151)
39	GNOMAD	ss2764097488	Nov 08, 2017 (151)
40	SWEGEN	ss2988146622	Nov 08, 2017 (151)
41	BIOINF_KMB_FNS_UNIBA	ss3023812296	Nov 08, 2017 (151)
42	CSHL	ss3343825347	Nov 08, 2017 (151)
43	URBANLAB	ss3646845388	Oct 11, 2018 (152)
44	EGCUT_WGS	ss3656100466	Jul 12, 2019 (153)
45	EVA_DECODE	ss3688259719	Jul 12, 2019 (153)
46	ACPOP	ss3727698079	Jul 12, 2019 (153)
47	EVA	ss3747107258	Jul 12, 2019 (153)
48	PACBIO	ss3783636372	Jul 12, 2019 (153)
49	PACBIO	ss3789256539	Jul 12, 2019 (153)
50	PACBIO	ss3794128693	Jul 12, 2019 (153)
51	KHV_HUMAN_GENOMES	ss3800111903	Jul 12, 2019 (153)
52	EVA	ss3826551235	Apr 25, 2020 (154)
53	EVA	ss3836672726	Apr 25, 2020 (154)
54	EVA	ss3842083349	Apr 25, 2020 (154)
55	SGDP_PRJ	ss3850513355	Apr 25, 2020 (154)
56	KRGDB	ss3895782030	Apr 25, 2020 (154)
57	KOGIC	ss3946128296	Apr 25, 2020 (154)
58	TOPMED	ss4476966750	Apr 25, 2021 (155)
59	TOMMO_GENOMICS	ss5147585206	Apr 25, 2021 (155)
60	1000G_HIGH_COVERAGE	ss5245146025	Oct 12, 2022 (156)
61	HUGCELL_USP	ss5445645740	Oct 12, 2022 (156)
62	EVA	ss5506120545	Oct 12, 2022 (156)
63	1000G_HIGH_COVERAGE	ss5518908980	Oct 12, 2022 (156)
64	SANFORD_IMAGENETICS	ss5627078519	Oct 12, 2022 (156)
65	TOMMO_GENOMICS	ss5675100766	Oct 12, 2022 (156)
66	YY_MCH	ss5801473803	Oct 12, 2022 (156)
67	EVA	ss5833001508	Oct 12, 2022 (156)
68	EVA	ss5849206957	Oct 12, 2022 (156)
69	EVA	ss5911227034	Oct 12, 2022 (156)
70	EVA	ss5938898072	Oct 12, 2022 (156)
71	1000Genomes	NC_000001.10 - 189916956	Oct 11, 2018 (152)
72	1000Genomes_30x	NC_000001.11 - 189947826	Oct 12, 2022 (156)
73	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 189916956	Oct 11, 2018 (152)
74	Genetic variation in the Estonian population	NC_000001.10 - 189916956	Oct 11, 2018 (152)
75	The Danish reference pan genome	NC_000001.10 - 189916956	Apr 25, 2020 (154)
76	gnomAD - Genomes	NC_000001.11 - 189947826	Apr 25, 2021 (155)
77	Genome of the Netherlands Release 5	NC_000001.10 - 189916956	Apr 25, 2020 (154)
78	KOREAN population from KRGDB	NC_000001.10 - 189916956	Apr 25, 2020 (154)
79	Korean Genome Project	NC_000001.11 - 189947826	Apr 25, 2020 (154)
80	Northern Sweden	NC_000001.10 - 189916956	Jul 12, 2019 (153)
81	Qatari	NC_000001.10 - 189916956	Apr 25, 2020 (154)
82	SGDP_PRJ	NC_000001.10 - 189916956	Apr 25, 2020 (154)
83	Siberian	NC_000001.10 - 189916956	Apr 25, 2020 (154)
84	8.3KJPN	NC_000001.10 - 189916956	Apr 25, 2021 (155)
85	14KJPN	NC_000001.11 - 189947826	Oct 12, 2022 (156)
86	TopMed	NC_000001.11 - 189947826	Apr 25, 2021 (155)
87	UK 10K study - Twins	NC_000001.10 - 189916956	Oct 11, 2018 (152)
88	A Vietnamese Genetic Variation Database	NC_000001.10 - 189916956	Jul 12, 2019 (153)
89	ALFA	NC_000001.11 - 189947826	Apr 25, 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)
rs17364817	Oct 07, 2004 (123)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss87909652, ss108796172, ss119147406, ss165589585, ss167382813, ss199391341, ss205179204, ss210696616, ss276144999, ss290687527, ss1585335443	NC_000001.9:188183578:A:C	NC_000001.11:189947825:A:C	(self)
4734967, 2597107, 1838714, 1809164, 1131045, 2959424, 982944, 1219071, 2530335, 649273, 5554513, 2597107, 558956, ss218784753, ss230828630, ss238455416, ss554974513, ss648576416, ss975942211, ss1068459411, ss1293907741, ss1426054701, ss1574555317, ss1601738416, ss1644732449, ss1795459435, ss1919177141, ss1966926827, ss2020105794, ss2148132919, ss2624560853, ss2698118667, ss2764097488, ss2988146622, ss3343825347, ss3656100466, ss3727698079, ss3747107258, ss3783636372, ss3789256539, ss3794128693, ss3826551235, ss3836672726, ss3850513355, ss3895782030, ss5147585206, ss5506120545, ss5627078519, ss5833001508, ss5938898072	NC_000001.10:189916955:A:C	NC_000001.11:189947825:A:C	(self)
6434915, 34136314, 2506297, 8937870, 40573085, 6336823072, ss2168556275, ss3023812296, ss3646845388, ss3688259719, ss3800111903, ss3842083349, ss3946128296, ss4476966750, ss5245146025, ss5445645740, ss5518908980, ss5675100766, ss5801473803, ss5849206957, ss5911227034	NC_000001.11:189947825:A:C	NC_000001.11:189947825:A:C	(self)
ss2089185, ss24237991, ss39683715, ss99271588, ss102806691, ss131725798	NT_004487.19:41405597:A:C	NC_000001.11:189947825:A:C	(self)
ss20564847	NT_004671.15:1271941:A:C	NC_000001.11:189947825:A:C	(self)
2959424, ss3895782030	NC_000001.10:189916955:A:T	NC_000001.11:189947825:A:T	(self)
6336823072	NC_000001.11:189947825:A:T	NC_000001.11:189947825: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 rs1320756

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

rs1320756