Name: rs11248975
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.

rs11248975

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:25052828 (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: C=0.408697 (108178/264690, TOPMED)
C=0.406939 (56960/139972, GnomAD)
A=0.37565 (10615/28258, 14KJPN) (+ 17 more)
C=0.40810 (9077/22242, ALFA)
A=0.37882 (6349/16760, 8.3KJPN)
C=0.4033 (2583/6404, 1000G_30x)
C=0.4032 (2019/5008, 1000G)
C=0.4444 (1991/4480, Estonian)
C=0.4146 (1598/3854, ALSPAC)
C=0.4048 (1501/3708, TWINSUK)
A=0.4283 (1255/2930, KOREAN)
A=0.4569 (837/1832, Korea1K)
C=0.423 (422/998, GoNL)
C=0.382 (229/600, NorthernSweden)
A=0.354 (128/362, SGDP_PRJ)
C=0.444 (144/324, HapMap)
C=0.315 (68/216, Qatari)
C=0.417 (90/216, Vietnamese)
A=0.43 (20/46, Siberian)
A=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	22242	A=0.59190	C=0.40810
European	Sub	16454	A=0.58423	C=0.41577
African	Sub	4060	A=0.6409	C=0.3591
African Others	Sub	144	A=0.576	C=0.424
African American	Sub	3916	A=0.6433	C=0.3567
Asian	Sub	112	A=0.536	C=0.464
East Asian	Sub	86	A=0.52	C=0.48
Other Asian	Sub	26	A=0.58	C=0.42
Latin American 1	Sub	146	A=0.555	C=0.445
Latin American 2	Sub	610	A=0.480	C=0.520
South Asian	Sub	98	A=0.72	C=0.28
Other	Sub	762	A=0.584	C=0.416

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=0.591303	C=0.408697
gnomAD - Genomes	Global	Study-wide	139972	A=0.593061	C=0.406939
gnomAD - Genomes	European	Sub	75828	A=0.58602	C=0.41398
gnomAD - Genomes	African	Sub	41914	A=0.64236	C=0.35764
gnomAD - Genomes	American	Sub	13628	A=0.50514	C=0.49486
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	A=0.5665	C=0.4335
gnomAD - Genomes	East Asian	Sub	3126	A=0.5195	C=0.4805
gnomAD - Genomes	Other	Sub	2152	A=0.5855	C=0.4145
14KJPN	JAPANESE	Study-wide	28258	A=0.37565	C=0.62435
Allele Frequency Aggregator	Total	Global	22242	A=0.59190	C=0.40810
Allele Frequency Aggregator	European	Sub	16454	A=0.58423	C=0.41577
Allele Frequency Aggregator	African	Sub	4060	A=0.6409	C=0.3591
Allele Frequency Aggregator	Other	Sub	762	A=0.584	C=0.416
Allele Frequency Aggregator	Latin American 2	Sub	610	A=0.480	C=0.520
Allele Frequency Aggregator	Latin American 1	Sub	146	A=0.555	C=0.445
Allele Frequency Aggregator	Asian	Sub	112	A=0.536	C=0.464
Allele Frequency Aggregator	South Asian	Sub	98	A=0.72	C=0.28
8.3KJPN	JAPANESE	Study-wide	16760	A=0.37882	C=0.62118
1000Genomes_30x	Global	Study-wide	6404	A=0.5967	C=0.4033
1000Genomes_30x	African	Sub	1786	A=0.6607	C=0.3393
1000Genomes_30x	Europe	Sub	1266	A=0.5924	C=0.4076
1000Genomes_30x	South Asian	Sub	1202	A=0.6747	C=0.3253
1000Genomes_30x	East Asian	Sub	1170	A=0.5171	C=0.4829
1000Genomes_30x	American	Sub	980	A=0.485	C=0.515
1000Genomes	Global	Study-wide	5008	A=0.5968	C=0.4032
1000Genomes	African	Sub	1322	A=0.6528	C=0.3472
1000Genomes	East Asian	Sub	1008	A=0.5198	C=0.4802
1000Genomes	Europe	Sub	1006	A=0.5924	C=0.4076
1000Genomes	South Asian	Sub	978	A=0.690	C=0.310
1000Genomes	American	Sub	694	A=0.477	C=0.523
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.5556	C=0.4444
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.5854	C=0.4146
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.5952	C=0.4048
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.4283	C=0.5717, T=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	A=0.4569	C=0.5431
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.577	C=0.423
Northern Sweden	ACPOP	Study-wide	600	A=0.618	C=0.382
SGDP_PRJ	Global	Study-wide	362	A=0.354	C=0.646
HapMap	Global	Study-wide	324	A=0.556	C=0.444
HapMap	American	Sub	120	A=0.575	C=0.425
HapMap	African	Sub	116	A=0.655	C=0.345
HapMap	Asian	Sub	88	A=0.40	C=0.60
Qatari	Global	Study-wide	216	A=0.685	C=0.315
A Vietnamese Genetic Variation Database	Global	Study-wide	216	A=0.583	C=0.417
Siberian	Global	Study-wide	46	A=0.43	C=0.57
The Danish reference pan genome	Danish	Study-wide	40	A=0.45	C=0.55

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.25052828A>C
GRCh38.p14 chr 1	NC_000001.11:g.25052828A>T
GRCh37.p13 chr 1	NC_000001.10:g.25379319A>C
GRCh37.p13 chr 1	NC_000001.10:g.25379319A>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.25052828=	NC_000001.11:g.25052828A>C	NC_000001.11:g.25052828A>T
GRCh37.p13 chr 1	NC_000001.10:g.25379319=	NC_000001.10:g.25379319A>C	NC_000001.10:g.25379319A>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#.

76 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	CSHL-HAPMAP	ss16384116	Feb 27, 2004 (120)
2	SC_SNP	ss18069718	Feb 27, 2004 (120)
3	SSAHASNP	ss20429421	Apr 05, 2004 (121)
4	ABI	ss41105780	Mar 14, 2006 (126)
5	PERLEGEN	ss68761750	May 16, 2007 (127)
6	BCMHGSC_JDW	ss87310150	Mar 23, 2008 (129)
7	HUMANGENOME_JCVI	ss97926452	Feb 05, 2009 (130)
8	BGI	ss102729019	Dec 01, 2009 (131)
9	1000GENOMES	ss108071535	Jan 22, 2009 (130)
10	ENSEMBL	ss131776445	Dec 01, 2009 (131)
11	ENSEMBL	ss137851195	Dec 01, 2009 (131)
12	COMPLETE_GENOMICS	ss163996551	Jul 04, 2010 (132)
13	COMPLETE_GENOMICS	ss166260423	Jul 04, 2010 (132)
14	ILLUMINA	ss171218834	Jul 04, 2010 (132)
15	BUSHMAN	ss198188019	Jul 04, 2010 (132)
16	BCM-HGSC-SUB	ss205323452	Jul 04, 2010 (132)
17	1000GENOMES	ss210489757	Jul 14, 2010 (132)
18	1000GENOMES	ss218288909	Jul 14, 2010 (132)
19	1000GENOMES	ss230466468	Jul 14, 2010 (132)
20	1000GENOMES	ss238173113	Jul 15, 2010 (132)
21	GMI	ss275757597	May 04, 2012 (137)
22	GMI	ss284021286	Apr 25, 2013 (138)
23	PJP	ss290792730	May 09, 2011 (134)
24	ILLUMINA	ss536691575	Sep 08, 2015 (146)
25	TISHKOFF	ss553904909	Apr 25, 2013 (138)
26	SSMP	ss647647257	Apr 25, 2013 (138)
27	EVA-GONL	ss974958453	Aug 21, 2014 (142)
28	1000GENOMES	ss1290081867	Aug 21, 2014 (142)
29	DDI	ss1425749818	Apr 01, 2015 (144)
30	EVA_GENOME_DK	ss1573948210	Apr 01, 2015 (144)
31	EVA_UK10K_ALSPAC	ss1599751155	Apr 01, 2015 (144)
32	EVA_UK10K_TWINSUK	ss1642745188	Apr 01, 2015 (144)
33	HAMMER_LAB	ss1794079320	Sep 08, 2015 (146)
34	WEILL_CORNELL_DGM	ss1918170107	Feb 12, 2016 (147)
35	GENOMED	ss1966707561	Jul 19, 2016 (147)
36	JJLAB	ss2019597277	Sep 14, 2016 (149)
37	USC_VALOUEV	ss2147603370	Dec 20, 2016 (150)
38	HUMAN_LONGEVITY	ss2160823638	Dec 20, 2016 (150)
39	SYSTEMSBIOZJU	ss2624315635	Nov 08, 2017 (151)
40	GRF	ss2697508850	Nov 08, 2017 (151)
41	GNOMAD	ss2752802006	Nov 08, 2017 (151)
42	SWEGEN	ss2986486000	Nov 08, 2017 (151)
43	BIOINF_KMB_FNS_UNIBA	ss3023564515	Nov 08, 2017 (151)
44	CSHL	ss3343372903	Nov 08, 2017 (151)
45	ILLUMINA	ss3626051379	Oct 11, 2018 (152)
46	ILLUMINA	ss3637743839	Oct 11, 2018 (152)
47	URBANLAB	ss3646625891	Oct 11, 2018 (152)
48	EGCUT_WGS	ss3654552615	Jul 12, 2019 (153)
49	EVA_DECODE	ss3686371840	Jul 12, 2019 (153)
50	ACPOP	ss3726879468	Jul 12, 2019 (153)
51	EVA	ss3745954949	Jul 12, 2019 (153)
52	PACBIO	ss3783357131	Jul 12, 2019 (153)
53	PACBIO	ss3789026145	Jul 12, 2019 (153)
54	PACBIO	ss3793898653	Jul 12, 2019 (153)
55	KHV_HUMAN_GENOMES	ss3798975060	Jul 12, 2019 (153)
56	EVA	ss3826077718	Apr 25, 2020 (154)
57	EVA	ss3836426983	Apr 25, 2020 (154)
58	EVA	ss3841831773	Apr 25, 2020 (154)
59	SGDP_PRJ	ss3848434076	Apr 25, 2020 (154)
60	KRGDB	ss3893353727	Apr 25, 2020 (154)
61	KOGIC	ss3944062624	Apr 25, 2020 (154)
62	EVA	ss4016898944	Apr 25, 2021 (155)
63	TOPMED	ss4442547965	Apr 25, 2021 (155)
64	TOMMO_GENOMICS	ss5142987087	Apr 25, 2021 (155)
65	1000G_HIGH_COVERAGE	ss5241552899	Oct 13, 2022 (156)
66	EVA	ss5317411891	Oct 13, 2022 (156)
67	HUGCELL_USP	ss5442697700	Oct 13, 2022 (156)
68	EVA	ss5505792790	Oct 13, 2022 (156)
69	1000G_HIGH_COVERAGE	ss5513479377	Oct 13, 2022 (156)
70	SANFORD_IMAGENETICS	ss5625135313	Oct 13, 2022 (156)
71	TOMMO_GENOMICS	ss5667446324	Oct 13, 2022 (156)
72	YY_MCH	ss5800423000	Oct 13, 2022 (156)
73	EVA	ss5831685797	Oct 13, 2022 (156)
74	EVA	ss5848827797	Oct 13, 2022 (156)
75	EVA	ss5907444569	Oct 13, 2022 (156)
76	EVA	ss5936952129	Oct 13, 2022 (156)
77	1000Genomes	NC_000001.10 - 25379319	Oct 11, 2018 (152)
78	1000Genomes_30x	NC_000001.11 - 25052828	Oct 13, 2022 (156)
79	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 25379319	Oct 11, 2018 (152)
80	Genetic variation in the Estonian population	NC_000001.10 - 25379319	Oct 11, 2018 (152)
81	The Danish reference pan genome	NC_000001.10 - 25379319	Apr 25, 2020 (154)
82	gnomAD - Genomes	NC_000001.11 - 25052828	Apr 25, 2021 (155)
83	Genome of the Netherlands Release 5	NC_000001.10 - 25379319	Apr 25, 2020 (154)
84	HapMap	NC_000001.11 - 25052828	Apr 25, 2020 (154)
85	KOREAN population from KRGDB	NC_000001.10 - 25379319	Apr 25, 2020 (154)
86	Korean Genome Project	NC_000001.11 - 25052828	Apr 25, 2020 (154)
87	Northern Sweden	NC_000001.10 - 25379319	Jul 12, 2019 (153)
88	Qatari	NC_000001.10 - 25379319	Apr 25, 2020 (154)
89	SGDP_PRJ	NC_000001.10 - 25379319	Apr 25, 2020 (154)
90	Siberian	NC_000001.10 - 25379319	Apr 25, 2020 (154)
91	8.3KJPN	NC_000001.10 - 25379319	Apr 25, 2021 (155)
92	14KJPN	NC_000001.11 - 25052828	Oct 13, 2022 (156)
93	TopMed	NC_000001.11 - 25052828	Apr 25, 2021 (155)
94	UK 10K study - Twins	NC_000001.10 - 25379319	Oct 11, 2018 (152)
95	A Vietnamese Genetic Variation Database	NC_000001.10 - 25379319	Jul 12, 2019 (153)
96	ALFA	NC_000001.11 - 25052828	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
ss87310150, ss108071535, ss163996551, ss166260423, ss198188019, ss205323452, ss210489757, ss275757597, ss284021286, ss290792730	NC_000001.9:25251905:A:C	NC_000001.11:25052827:A:C	(self)
771599, 410870, 290863, 1430424, 178002, 531121, 164333, 212037, 451056, 119724, 956394, 410870, 86638, ss218288909, ss230466468, ss238173113, ss536691575, ss553904909, ss647647257, ss974958453, ss1290081867, ss1425749818, ss1573948210, ss1599751155, ss1642745188, ss1794079320, ss1918170107, ss1966707561, ss2019597277, ss2147603370, ss2624315635, ss2697508850, ss2752802006, ss2986486000, ss3343372903, ss3626051379, ss3637743839, ss3654552615, ss3726879468, ss3745954949, ss3783357131, ss3789026145, ss3793898653, ss3826077718, ss3836426983, ss3848434076, ss3893353727, ss4016898944, ss5142987087, ss5317411891, ss5505792790, ss5625135313, ss5831685797, ss5936952129	NC_000001.10:25379318:A:C	NC_000001.11:25052827:A:C	(self)
1005312, 5398186, 32274, 440625, 1283428, 6154300, 12585127156, ss2160823638, ss3023564515, ss3646625891, ss3686371840, ss3798975060, ss3841831773, ss3944062624, ss4442547965, ss5241552899, ss5442697700, ss5513479377, ss5667446324, ss5800423000, ss5848827797, ss5907444569	NC_000001.11:25052827:A:C	NC_000001.11:25052827:A:C	(self)
ss41105780, ss68761750, ss97926452, ss102729019, ss131776445, ss137851195, ss171218834	NT_004610.19:12059406:A:C	NC_000001.11:25052827:A:C	(self)
ss16384116, ss18069718, ss20429421	NT_077383.3:1015543:A:C	NC_000001.11:25052827:A:C	(self)
531121, ss3893353727	NC_000001.10:25379318:A:T	NC_000001.11:25052827: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 rs11248975

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

rs11248975