Name: rs11223612
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.

rs11223612

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:133885347 (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: G>A / G>C
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.252216 (66759/264690, TOPMED)
G=0.35052 (9905/28258, 14KJPN)
G=0.35338 (5922/16758, 8.3KJPN) (+ 14 more)
A=0.20156 (2838/14080, ALFA)
A=0.3072 (1967/6404, 1000G_30x)
A=0.3141 (1573/5008, 1000G)
A=0.4179 (1872/4480, Estonian)
A=0.2992 (1153/3854, ALSPAC)
A=0.2845 (1055/3708, TWINSUK)
G=0.4171 (1222/2930, KOREAN)
G=0.4481 (821/1832, Korea1K)
A=0.288 (287/998, GoNL)
A=0.387 (232/600, NorthernSweden)
G=0.358 (126/352, SGDP_PRJ)
A=0.356 (77/216, Qatari)
G=0.27 (12/44, Siberian)
A=0.38 (15/40, 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	14080	G=0.79844	A=0.20156, C=0.00000
European	Sub	10718	G=0.74930	A=0.25070, C=0.00000
African	Sub	2404	G=0.9655	A=0.0345, C=0.0000
African Others	Sub	102	G=0.971	A=0.029, C=0.000
African American	Sub	2302	G=0.9652	A=0.0348, C=0.0000
Asian	Sub	16	G=0.81	A=0.19, C=0.00
East Asian	Sub	10	G=0.9	A=0.1, C=0.0
Other Asian	Sub	6	G=0.7	A=0.3, C=0.0
Latin American 1	Sub	72	G=1.00	A=0.00, C=0.00
Latin American 2	Sub	340	G=1.000	A=0.000, C=0.000
South Asian	Sub	42	G=0.95	A=0.05, C=0.00
Other	Sub	488	G=0.871	A=0.129, C=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	G=0.747784	A=0.252216
14KJPN	JAPANESE	Study-wide	28258	G=0.35052	A=0.64948
8.3KJPN	JAPANESE	Study-wide	16758	G=0.35338	A=0.64662
Allele Frequency Aggregator	Total	Global	14080	G=0.79844	A=0.20156, C=0.00000
Allele Frequency Aggregator	European	Sub	10718	G=0.74930	A=0.25070, C=0.00000
Allele Frequency Aggregator	African	Sub	2404	G=0.9655	A=0.0345, C=0.0000
Allele Frequency Aggregator	Other	Sub	488	G=0.871	A=0.129, C=0.000
Allele Frequency Aggregator	Latin American 2	Sub	340	G=1.000	A=0.000, C=0.000
Allele Frequency Aggregator	Latin American 1	Sub	72	G=1.00	A=0.00, C=0.00
Allele Frequency Aggregator	South Asian	Sub	42	G=0.95	A=0.05, C=0.00
Allele Frequency Aggregator	Asian	Sub	16	G=0.81	A=0.19, C=0.00
1000Genomes_30x	Global	Study-wide	6404	G=0.6928	A=0.3072
1000Genomes_30x	African	Sub	1786	G=0.8863	A=0.1137
1000Genomes_30x	Europe	Sub	1266	G=0.6793	A=0.3207
1000Genomes_30x	South Asian	Sub	1202	G=0.6098	A=0.3902
1000Genomes_30x	East Asian	Sub	1170	G=0.4718	A=0.5282
1000Genomes_30x	American	Sub	980	G=0.723	A=0.277
1000Genomes	Global	Study-wide	5008	G=0.6859	A=0.3141
1000Genomes	African	Sub	1322	G=0.8865	A=0.1135
1000Genomes	East Asian	Sub	1008	G=0.4663	A=0.5337
1000Genomes	Europe	Sub	1006	G=0.6789	A=0.3211
1000Genomes	South Asian	Sub	978	G=0.620	A=0.380
1000Genomes	American	Sub	694	G=0.726	A=0.274
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.5821	A=0.4179
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.7008	A=0.2992
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.7155	A=0.2845
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.4171	A=0.5829
Korean Genome Project	KOREAN	Study-wide	1832	G=0.4481	A=0.5519
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.712	A=0.288
Northern Sweden	ACPOP	Study-wide	600	G=0.613	A=0.387
SGDP_PRJ	Global	Study-wide	352	G=0.358	A=0.642
Qatari	Global	Study-wide	216	G=0.644	A=0.356
Siberian	Global	Study-wide	44	G=0.27	A=0.73
The Danish reference pan genome	Danish	Study-wide	40	G=0.62	A=0.38

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 11	NC_000011.10:g.133885347G>A
GRCh38.p14 chr 11	NC_000011.10:g.133885347G>C
GRCh37.p13 chr 11	NC_000011.9:g.133755242G>A
GRCh37.p13 chr 11	NC_000011.9:g.133755242G>C

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	G=	A	C
GRCh38.p14 chr 11	NC_000011.10:g.133885347=	NC_000011.10:g.133885347G>A	NC_000011.10:g.133885347G>C
GRCh37.p13 chr 11	NC_000011.9:g.133755242=	NC_000011.9:g.133755242G>A	NC_000011.9:g.133755242G>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#.

55 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss16001206	Feb 27, 2004 (120)
2	SC_SNP	ss18915774	Feb 27, 2004 (120)
3	HGSV	ss82333945	Dec 14, 2007 (130)
4	BCMHGSC_JDW	ss88896094	Mar 24, 2008 (129)
5	COMPLETE_GENOMICS	ss168816791	Jul 04, 2010 (132)
6	GMI	ss281234660	May 04, 2012 (137)
7	GMI	ss286486966	Apr 25, 2013 (138)
8	1000GENOMES	ss337089906	May 09, 2011 (134)
9	TISHKOFF	ss562933182	Apr 25, 2013 (138)
10	SSMP	ss658456555	Apr 25, 2013 (138)
11	EVA-GONL	ss989138125	Aug 21, 2014 (142)
12	JMKIDD_LAB	ss1078176517	Aug 21, 2014 (142)
13	1000GENOMES	ss1343629283	Aug 21, 2014 (142)
14	DDI	ss1426812224	Apr 01, 2015 (144)
15	EVA_GENOME_DK	ss1576055349	Apr 01, 2015 (144)
16	EVA_UK10K_ALSPAC	ss1627825088	Apr 01, 2015 (144)
17	EVA_UK10K_TWINSUK	ss1670819121	Apr 01, 2015 (144)
18	WEILL_CORNELL_DGM	ss1932495855	Feb 12, 2016 (147)
19	JJLAB	ss2026995688	Sep 14, 2016 (149)
20	USC_VALOUEV	ss2155312902	Dec 20, 2016 (150)
21	HUMAN_LONGEVITY	ss2187067847	Dec 20, 2016 (150)
22	SYSTEMSBIOZJU	ss2627974279	Nov 08, 2017 (151)
23	GRF	ss2699629182	Nov 08, 2017 (151)
24	GNOMAD	ss2906290853	Nov 08, 2017 (151)
25	SWEGEN	ss3009045091	Nov 08, 2017 (151)
26	BIOINF_KMB_FNS_UNIBA	ss3027300347	Nov 08, 2017 (151)
27	CSHL	ss3349872613	Nov 08, 2017 (151)
28	EGCUT_WGS	ss3676379602	Jul 13, 2019 (153)
29	EVA_DECODE	ss3692924349	Jul 13, 2019 (153)
30	ACPOP	ss3738684884	Jul 13, 2019 (153)
31	EVA	ss3750021591	Jul 13, 2019 (153)
32	PACBIO	ss3787112613	Jul 13, 2019 (153)
33	PACBIO	ss3792230345	Jul 13, 2019 (153)
34	PACBIO	ss3797112956	Jul 13, 2019 (153)
35	KHV_HUMAN_GENOMES	ss3815341939	Jul 13, 2019 (153)
36	EVA	ss3832923287	Apr 26, 2020 (154)
37	EVA	ss3840024701	Apr 26, 2020 (154)
38	EVA	ss3845507449	Apr 26, 2020 (154)
39	SGDP_PRJ	ss3877480943	Apr 26, 2020 (154)
40	KRGDB	ss3925967782	Apr 26, 2020 (154)
41	KOGIC	ss3971087298	Apr 26, 2020 (154)
42	TOPMED	ss4905616330	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5204626442	Apr 26, 2021 (155)
44	1000G_HIGH_COVERAGE	ss5289474139	Oct 13, 2022 (156)
45	EVA	ss5403319699	Oct 13, 2022 (156)
46	HUGCELL_USP	ss5484405937	Oct 13, 2022 (156)
47	EVA	ss5510573283	Oct 13, 2022 (156)
48	1000G_HIGH_COVERAGE	ss5586246328	Oct 13, 2022 (156)
49	SANFORD_IMAGENETICS	ss5652398488	Oct 13, 2022 (156)
50	TOMMO_GENOMICS	ss5753288445	Oct 13, 2022 (156)
51	YY_MCH	ss5812919221	Oct 13, 2022 (156)
52	EVA	ss5837454328	Oct 13, 2022 (156)
53	EVA	ss5850220422	Oct 13, 2022 (156)
54	EVA	ss5922329936	Oct 13, 2022 (156)
55	EVA	ss5943746978	Oct 13, 2022 (156)
56	1000Genomes	NC_000011.9 - 133755242	Oct 12, 2018 (152)
57	1000Genomes_30x	NC_000011.10 - 133885347	Oct 13, 2022 (156)
58	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 133755242	Oct 12, 2018 (152)
59	Genetic variation in the Estonian population	NC_000011.9 - 133755242	Oct 12, 2018 (152)
60	The Danish reference pan genome	NC_000011.9 - 133755242	Apr 26, 2020 (154)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 396642610 (NC_000011.10:133885346:G:A 35901/139272) Row 396642611 (NC_000011.10:133885346:G:C 1/139404)	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 396642610 (NC_000011.10:133885346:G:A 35901/139272) Row 396642611 (NC_000011.10:133885346:G:C 1/139404)	-	Apr 26, 2021 (155)
63	Genome of the Netherlands Release 5	NC_000011.9 - 133755242	Apr 26, 2020 (154)
64	KOREAN population from KRGDB	NC_000011.9 - 133755242	Apr 26, 2020 (154)
65	Korean Genome Project	NC_000011.10 - 133885347	Apr 26, 2020 (154)
66	Northern Sweden	NC_000011.9 - 133755242	Jul 13, 2019 (153)
67	Qatari	NC_000011.9 - 133755242	Apr 26, 2020 (154)
68	SGDP_PRJ	NC_000011.9 - 133755242	Apr 26, 2020 (154)
69	Siberian	NC_000011.9 - 133755242	Apr 26, 2020 (154)
70	8.3KJPN	NC_000011.9 - 133755242	Apr 26, 2021 (155)
71	14KJPN	NC_000011.10 - 133885347	Oct 13, 2022 (156)
72	TopMed	NC_000011.10 - 133885347	Apr 26, 2021 (155)
73	UK 10K study - Twins	NC_000011.9 - 133755242	Oct 12, 2018 (152)
74	ALFA	NC_000011.10 - 133885347	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)
rs56708724	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss82333945, ss88896094, ss168816791, ss281234660, ss286486966	NC_000011.8:133260451:G:A	NC_000011.10:133885346:G:A	(self)
56234474, 31229009, 22117850, 2803447, 13930943, 33145176, 11969749, 14537785, 29497923, 7829256, 62595749, 31229009, ss337089906, ss562933182, ss658456555, ss989138125, ss1078176517, ss1343629283, ss1426812224, ss1576055349, ss1627825088, ss1670819121, ss1932495855, ss2026995688, ss2155312902, ss2627974279, ss2699629182, ss2906290853, ss3009045091, ss3349872613, ss3676379602, ss3738684884, ss3750021591, ss3787112613, ss3792230345, ss3797112956, ss3832923287, ss3840024701, ss3877480943, ss3925967782, ss5204626442, ss5403319699, ss5510573283, ss5652398488, ss5837454328, ss5943746978	NC_000011.9:133755241:G:A	NC_000011.10:133885346:G:A	(self)
73772263, 27465299, 87125549, 121161986, 13571374902, ss2187067847, ss3027300347, ss3692924349, ss3815341939, ss3845507449, ss3971087298, ss4905616330, ss5289474139, ss5484405937, ss5586246328, ss5753288445, ss5812919221, ss5850220422, ss5922329936	NC_000011.10:133885346:G:A	NC_000011.10:133885346:G:A	(self)
ss16001206, ss18915774	NT_033899.6:37299028:G:A	NC_000011.10:133885346:G:A	(self)
13571374902	NC_000011.10:133885346:G:C	NC_000011.10:133885346:G: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 rs11223612

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

rs11223612