Name: rs1320755
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.

rs1320755

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:190074249 (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=0.346503 (91716/264690, TOPMED)
A=0.354772 (49639/139918, GnomAD)
C=0.48308 (13650/28256, 14KJPN) (+ 16 more)
A=0.42706 (7641/17892, ALFA)
C=0.48514 (8131/16760, 8.3KJPN)
A=0.3234 (2071/6404, 1000G_30x)
A=0.3321 (1663/5008, 1000G)
C=0.4942 (2214/4480, Estonian)
A=0.4730 (1823/3854, ALSPAC)
A=0.4693 (1740/3708, TWINSUK)
C=0.4881 (1430/2930, KOREAN)
A=0.490 (489/998, GoNL)
A=0.460 (276/600, NorthernSweden)
A=0.223 (107/480, SGDP_PRJ)
A=0.301 (65/216, Qatari)
A=0.500 (108/216, Vietnamese)
C=0.500 (108/216, Vietnamese)
A=0.31 (13/42, Siberian)
C=0.45 (18/40, 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	17892	A=0.42706	C=0.57294, T=0.00000
European	Sub	13810	A=0.48414	C=0.51586, T=0.00000
African	Sub	2428	A=0.1289	C=0.8711, T=0.0000
African Others	Sub	90	A=0.03	C=0.97, T=0.00
African American	Sub	2338	A=0.1326	C=0.8674, T=0.0000
Asian	Sub	112	A=0.509	C=0.491, T=0.000
East Asian	Sub	86	A=0.47	C=0.53, T=0.00
Other Asian	Sub	26	A=0.65	C=0.35, T=0.00
Latin American 1	Sub	146	A=0.322	C=0.678, T=0.000
Latin American 2	Sub	610	A=0.410	C=0.590, T=0.000
South Asian	Sub	98	A=0.36	C=0.64, T=0.00
Other	Sub	688	A=0.368	C=0.632, 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=0.346503	C=0.653497
gnomAD - Genomes	Global	Study-wide	139918	A=0.354772	C=0.645228
gnomAD - Genomes	European	Sub	75770	A=0.46868	C=0.53132
gnomAD - Genomes	African	Sub	41982	A=0.12210	C=0.87790
gnomAD - Genomes	American	Sub	13590	A=0.38977	C=0.61023
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	A=0.4143	C=0.5857
gnomAD - Genomes	East Asian	Sub	3104	A=0.4987	C=0.5013
gnomAD - Genomes	Other	Sub	2148	A=0.3627	C=0.6373
14KJPN	JAPANESE	Study-wide	28256	A=0.51692	C=0.48308
Allele Frequency Aggregator	Total	Global	17892	A=0.42706	C=0.57294, T=0.00000
Allele Frequency Aggregator	European	Sub	13810	A=0.48414	C=0.51586, T=0.00000
Allele Frequency Aggregator	African	Sub	2428	A=0.1289	C=0.8711, T=0.0000
Allele Frequency Aggregator	Other	Sub	688	A=0.368	C=0.632, T=0.000
Allele Frequency Aggregator	Latin American 2	Sub	610	A=0.410	C=0.590, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	A=0.322	C=0.678, T=0.000
Allele Frequency Aggregator	Asian	Sub	112	A=0.509	C=0.491, T=0.000
Allele Frequency Aggregator	South Asian	Sub	98	A=0.36	C=0.64, T=0.00
8.3KJPN	JAPANESE	Study-wide	16760	A=0.51486	C=0.48514
1000Genomes_30x	Global	Study-wide	6404	A=0.3234	C=0.6766
1000Genomes_30x	African	Sub	1786	A=0.0672	C=0.9328
1000Genomes_30x	Europe	Sub	1266	A=0.4621	C=0.5379
1000Genomes_30x	South Asian	Sub	1202	A=0.3478	C=0.6522
1000Genomes_30x	East Asian	Sub	1170	A=0.4923	C=0.5077
1000Genomes_30x	American	Sub	980	A=0.380	C=0.620
1000Genomes	Global	Study-wide	5008	A=0.3321	C=0.6679
1000Genomes	African	Sub	1322	A=0.0711	C=0.9289
1000Genomes	East Asian	Sub	1008	A=0.4980	C=0.5020
1000Genomes	Europe	Sub	1006	A=0.4632	C=0.5368
1000Genomes	South Asian	Sub	978	A=0.349	C=0.651
1000Genomes	American	Sub	694	A=0.375	C=0.625
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.5058	C=0.4942
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.4730	C=0.5270
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.4693	C=0.5307
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.5119	C=0.4881, G=0.0000, T=0.0000
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.490	C=0.510
Northern Sweden	ACPOP	Study-wide	600	A=0.460	C=0.540
SGDP_PRJ	Global	Study-wide	480	A=0.223	C=0.777
Qatari	Global	Study-wide	216	A=0.301	C=0.699
A Vietnamese Genetic Variation Database	Global	Study-wide	216	A=0.500	C=0.500
Siberian	Global	Study-wide	42	A=0.31	C=0.69
The Danish reference pan genome	Danish	Study-wide	40	A=0.55	C=0.45

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.190074249A>C
GRCh38.p14 chr 1	NC_000001.11:g.190074249A>G
GRCh38.p14 chr 1	NC_000001.11:g.190074249A>T
GRCh37.p13 chr 1	NC_000001.10:g.190043379A>C
GRCh37.p13 chr 1	NC_000001.10:g.190043379A>G
GRCh37.p13 chr 1	NC_000001.10:g.190043379A>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 1	NC_000001.11:g.190074249=	NC_000001.11:g.190074249A>C	NC_000001.11:g.190074249A>G	NC_000001.11:g.190074249A>T
GRCh37.p13 chr 1	NC_000001.10:g.190043379=	NC_000001.10:g.190043379A>C	NC_000001.10:g.190043379A>G	NC_000001.10:g.190043379A>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, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss2089184	Oct 23, 2000 (88)
2	SC_SNP	ss15384947	Feb 27, 2004 (120)
3	CSHL-HAPMAP	ss16403442	Feb 27, 2004 (120)
4	CSHL-HAPMAP	ss19110105	Feb 27, 2004 (120)
5	SSAHASNP	ss20610746	Apr 05, 2004 (121)
6	ABI	ss41185800	Mar 13, 2006 (126)
7	HGSV	ss77352633	Dec 07, 2007 (129)
8	HUMANGENOME_JCVI	ss97992013	Feb 06, 2009 (130)
9	BGI	ss102807020	Dec 01, 2009 (131)
10	1000GENOMES	ss108797613	Jan 23, 2009 (130)
11	ILLUMINA-UK	ss119148051	Dec 01, 2009 (131)
12	ENSEMBL	ss139125470	Dec 01, 2009 (131)
13	GMI	ss156063202	Dec 01, 2009 (131)
14	COMPLETE_GENOMICS	ss164732809	Jul 04, 2010 (132)
15	COMPLETE_GENOMICS	ss165591273	Jul 04, 2010 (132)
16	BUSHMAN	ss199393059	Jul 04, 2010 (132)
17	1000GENOMES	ss230829171	Jul 14, 2010 (132)
18	1000GENOMES	ss238455858	Jul 15, 2010 (132)
19	BL	ss253695981	May 09, 2011 (134)
20	GMI	ss276145602	May 04, 2012 (137)
21	GMI	ss284195825	Apr 25, 2013 (138)
22	PJP	ss290687888	May 09, 2011 (134)
23	TISHKOFF	ss554975479	Apr 25, 2013 (138)
24	SSMP	ss648577172	Apr 25, 2013 (138)
25	EVA-GONL	ss975943400	Aug 21, 2014 (142)
26	JMKIDD_LAB	ss1068460263	Aug 21, 2014 (142)
27	1000GENOMES	ss1293911789	Aug 21, 2014 (142)
28	DDI	ss1426055179	Apr 01, 2015 (144)
29	EVA_GENOME_DK	ss1574556134	Apr 01, 2015 (144)
30	EVA_DECODE	ss1585336693	Apr 01, 2015 (144)
31	EVA_UK10K_ALSPAC	ss1601740619	Apr 01, 2015 (144)
32	EVA_UK10K_TWINSUK	ss1644734652	Apr 01, 2015 (144)
33	HAMMER_LAB	ss1795461537	Sep 08, 2015 (146)
34	WEILL_CORNELL_DGM	ss1919178275	Feb 12, 2016 (147)
35	GENOMED	ss1966927215	Jul 19, 2016 (147)
36	JJLAB	ss2020106469	Sep 14, 2016 (149)
37	USC_VALOUEV	ss2148133556	Dec 20, 2016 (150)
38	HUMAN_LONGEVITY	ss2168564803	Dec 20, 2016 (150)
39	SYSTEMSBIOZJU	ss2624561239	Nov 08, 2017 (151)
40	GRF	ss2698119425	Nov 08, 2017 (151)
41	GNOMAD	ss2764108746	Nov 08, 2017 (151)
42	SWEGEN	ss2988148218	Nov 08, 2017 (151)
43	BIOINF_KMB_FNS_UNIBA	ss3023812703	Nov 08, 2017 (151)
44	CSHL	ss3343825965	Nov 08, 2017 (151)
45	URBANLAB	ss3646845835	Oct 11, 2018 (152)
46	EGCUT_WGS	ss3656102281	Jul 12, 2019 (153)
47	EVA_DECODE	ss3688261710	Jul 12, 2019 (153)
48	ACPOP	ss3727699045	Jul 12, 2019 (153)
49	EVA	ss3747108581	Jul 12, 2019 (153)
50	PACBIO	ss3783636801	Jul 12, 2019 (153)
51	PACBIO	ss3789256911	Jul 12, 2019 (153)
52	PACBIO	ss3794129065	Jul 12, 2019 (153)
53	KHV_HUMAN_GENOMES	ss3800113185	Jul 12, 2019 (153)
54	EVA	ss3826551866	Apr 25, 2020 (154)
55	EVA	ss3836673185	Apr 25, 2020 (154)
56	EVA	ss3842083830	Apr 25, 2020 (154)
57	SGDP_PRJ	ss3850515513	Apr 25, 2020 (154)
58	KRGDB	ss3895784354	Apr 25, 2020 (154)
59	TOPMED	ss4477002361	Apr 25, 2021 (155)
60	TOMMO_GENOMICS	ss5147589746	Apr 25, 2021 (155)
61	1000G_HIGH_COVERAGE	ss5245149468	Oct 12, 2022 (156)
62	EVA	ss5323612658	Oct 12, 2022 (156)
63	HUGCELL_USP	ss5445648957	Oct 12, 2022 (156)
64	EVA	ss5506121112	Oct 12, 2022 (156)
65	1000G_HIGH_COVERAGE	ss5518914619	Oct 12, 2022 (156)
66	SANFORD_IMAGENETICS	ss5627080514	Oct 12, 2022 (156)
67	TOMMO_GENOMICS	ss5675106514	Oct 12, 2022 (156)
68	YY_MCH	ss5801474866	Oct 12, 2022 (156)
69	EVA	ss5833002967	Oct 12, 2022 (156)
70	EVA	ss5849207491	Oct 12, 2022 (156)
71	EVA	ss5911231025	Oct 12, 2022 (156)
72	EVA	ss5938900212	Oct 12, 2022 (156)
73	1000Genomes	NC_000001.10 - 190043379	Oct 11, 2018 (152)
74	1000Genomes_30x	NC_000001.11 - 190074249	Oct 12, 2022 (156)
75	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 190043379	Oct 11, 2018 (152)
76	Genetic variation in the Estonian population	NC_000001.10 - 190043379	Oct 11, 2018 (152)
77	The Danish reference pan genome	NC_000001.10 - 190043379	Apr 25, 2020 (154)
78	gnomAD - Genomes	NC_000001.11 - 190074249	Apr 25, 2021 (155)
79	Genome of the Netherlands Release 5	NC_000001.10 - 190043379	Apr 25, 2020 (154)
80	KOREAN population from KRGDB	NC_000001.10 - 190043379	Apr 25, 2020 (154)
81	Northern Sweden	NC_000001.10 - 190043379	Jul 12, 2019 (153)
82	Qatari	NC_000001.10 - 190043379	Apr 25, 2020 (154)
83	SGDP_PRJ	NC_000001.10 - 190043379	Apr 25, 2020 (154)
84	Siberian	NC_000001.10 - 190043379	Apr 25, 2020 (154)
85	8.3KJPN	NC_000001.10 - 190043379	Apr 25, 2021 (155)
86	14KJPN	NC_000001.11 - 190074249	Oct 12, 2022 (156)
87	TopMed	NC_000001.11 - 190074249	Apr 25, 2021 (155)
88	UK 10K study - Twins	NC_000001.10 - 190043379	Oct 11, 2018 (152)
89	A Vietnamese Genetic Variation Database	NC_000001.10 - 190043379	Jul 12, 2019 (153)
90	ALFA	NC_000001.11 - 190074249	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss77352633	NC_000001.8:186775035:A:C	NC_000001.11:190074248:A:C	(self)
ss108797613, ss119148051, ss164732809, ss165591273, ss199393059, ss253695981, ss276145602, ss284195825, ss290687888, ss1585336693	NC_000001.9:188310001:A:C	NC_000001.11:190074248:A:C	(self)
4739161, 2599487, 1840529, 1809685, 1132221, 2961748, 983910, 1220205, 2532493, 649910, 5559053, 2599487, 559641, ss230829171, ss238455858, ss554975479, ss648577172, ss975943400, ss1068460263, ss1293911789, ss1426055179, ss1574556134, ss1601740619, ss1644734652, ss1795461537, ss1919178275, ss1966927215, ss2020106469, ss2148133556, ss2624561239, ss2698119425, ss2764108746, ss2988148218, ss3343825965, ss3656102281, ss3727699045, ss3747108581, ss3783636801, ss3789256911, ss3794129065, ss3826551866, ss3836673185, ss3850515513, ss3895784354, ss5147589746, ss5323612658, ss5506121112, ss5627080514, ss5833002967, ss5938900212	NC_000001.10:190043378:A:C	NC_000001.11:190074248:A:C	(self)
6440554, 34166070, 8943618, 40608696, 8532678808, ss2168564803, ss3023812703, ss3646845835, ss3688261710, ss3800113185, ss3842083830, ss4477002361, ss5245149468, ss5445648957, ss5518914619, ss5675106514, ss5801474866, ss5849207491, ss5911231025	NC_000001.11:190074248:A:C	NC_000001.11:190074248:A:C	(self)
ss2089184, ss41185800, ss97992013, ss102807020, ss139125470, ss156063202	NT_004487.19:41532020:A:C	NC_000001.11:190074248:A:C	(self)
ss15384947, ss16403442, ss19110105, ss20610746	NT_004671.15:1398364:A:C	NC_000001.11:190074248:A:C	(self)
2961748, ss3895784354	NC_000001.10:190043378:A:G	NC_000001.11:190074248:A:G	(self)
2961748, ss3895784354	NC_000001.10:190043378:A:T	NC_000001.11:190074248:A:T	(self)
8532678808	NC_000001.11:190074248:A:T	NC_000001.11:190074248: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 rs1320755

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

rs1320755