Name: rs11237234
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.

rs11237234

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:77598197 (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>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.188817 (49978/264690, TOPMED)
T=0.184910 (25903/140084, GnomAD)
T=0.19106 (5399/28258, 14KJPN) (+ 17 more)
T=0.14690 (2775/18890, ALFA)
T=0.19382 (3248/16758, 8.3KJPN)
T=0.1989 (1274/6404, 1000G_30x)
T=0.1985 (994/5008, 1000G)
T=0.1210 (542/4480, Estonian)
T=0.0960 (370/3854, ALSPAC)
T=0.0995 (369/3708, TWINSUK)
T=0.2188 (641/2930, KOREAN)
T=0.2112 (387/1832, Korea1K)
T=0.114 (114/998, GoNL)
T=0.133 (80/600, NorthernSweden)
G=0.399 (91/228, SGDP_PRJ)
T=0.111 (24/216, Qatari)
T=0.150 (32/214, Vietnamese)
T=0.07 (3/40, GENOME_DK)
G=0.50 (11/22, Siberian)
T=0.50 (11/22, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: AQP11 : Intron Variant
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	18890	G=0.85310	T=0.14690
European	Sub	14286	G=0.89276	T=0.10724
African	Sub	2946	G=0.6914	T=0.3086
African Others	Sub	114	G=0.614	T=0.386
African American	Sub	2832	G=0.6946	T=0.3054
Asian	Sub	112	G=0.830	T=0.170
East Asian	Sub	86	G=0.80	T=0.20
Other Asian	Sub	26	G=0.92	T=0.08
Latin American 1	Sub	146	G=0.884	T=0.116
Latin American 2	Sub	610	G=0.749	T=0.251
South Asian	Sub	98	G=0.87	T=0.13
Other	Sub	692	G=0.809	T=0.191

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=0.811183	T=0.188817
gnomAD - Genomes	Global	Study-wide	140084	G=0.815090	T=0.184910
gnomAD - Genomes	European	Sub	75880	G=0.88449	T=0.11551
gnomAD - Genomes	African	Sub	41974	G=0.69117	T=0.30883
gnomAD - Genomes	American	Sub	13634	G=0.78708	T=0.21292
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=0.8868	T=0.1132
gnomAD - Genomes	East Asian	Sub	3120	G=0.8202	T=0.1798
gnomAD - Genomes	Other	Sub	2154	G=0.8445	T=0.1555
14KJPN	JAPANESE	Study-wide	28258	G=0.80894	T=0.19106
Allele Frequency Aggregator	Total	Global	18890	G=0.85310	T=0.14690
Allele Frequency Aggregator	European	Sub	14286	G=0.89276	T=0.10724
Allele Frequency Aggregator	African	Sub	2946	G=0.6914	T=0.3086
Allele Frequency Aggregator	Other	Sub	692	G=0.809	T=0.191
Allele Frequency Aggregator	Latin American 2	Sub	610	G=0.749	T=0.251
Allele Frequency Aggregator	Latin American 1	Sub	146	G=0.884	T=0.116
Allele Frequency Aggregator	Asian	Sub	112	G=0.830	T=0.170
Allele Frequency Aggregator	South Asian	Sub	98	G=0.87	T=0.13
8.3KJPN	JAPANESE	Study-wide	16758	G=0.80618	T=0.19382
1000Genomes_30x	Global	Study-wide	6404	G=0.8011	T=0.1989
1000Genomes_30x	African	Sub	1786	G=0.6725	T=0.3275
1000Genomes_30x	Europe	Sub	1266	G=0.9005	T=0.0995
1000Genomes_30x	South Asian	Sub	1202	G=0.8702	T=0.1298
1000Genomes_30x	East Asian	Sub	1170	G=0.8179	T=0.1821
1000Genomes_30x	American	Sub	980	G=0.802	T=0.198
1000Genomes	Global	Study-wide	5008	G=0.8015	T=0.1985
1000Genomes	African	Sub	1322	G=0.6710	T=0.3290
1000Genomes	East Asian	Sub	1008	G=0.8175	T=0.1825
1000Genomes	Europe	Sub	1006	G=0.9026	T=0.0974
1000Genomes	South Asian	Sub	978	G=0.865	T=0.135
1000Genomes	American	Sub	694	G=0.791	T=0.209
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.8790	T=0.1210
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.9040	T=0.0960
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.9005	T=0.0995
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.7812	T=0.2188
Korean Genome Project	KOREAN	Study-wide	1832	G=0.7888	T=0.2112
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.886	T=0.114
Northern Sweden	ACPOP	Study-wide	600	G=0.867	T=0.133
SGDP_PRJ	Global	Study-wide	228	G=0.399	T=0.601
Qatari	Global	Study-wide	216	G=0.889	T=0.111
A Vietnamese Genetic Variation Database	Global	Study-wide	214	G=0.850	T=0.150
The Danish reference pan genome	Danish	Study-wide	40	G=0.93	T=0.07
Siberian	Global	Study-wide	22	G=0.50	T=0.50

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.77598197G>T
GRCh37.p13 chr 11	NC_000011.9:g.77309242G>T

Gene: AQP11, aquaporin 11 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
AQP11 transcript variant 2	NM_001363477.2:c.619+7586… NM_001363477.2:c.619+7586G>T	N/A	Intron Variant
AQP11 transcript variant 1	NM_173039.3:c.620-5359G>T	N/A	Intron Variant

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=	T
GRCh38.p14 chr 11	NC_000011.10:g.77598197=	NC_000011.10:g.77598197G>T
GRCh37.p13 chr 11	NC_000011.9:g.77309242=	NC_000011.9:g.77309242G>T
AQP11 transcript variant 2	NM_001363477.2:c.619+7586=	NM_001363477.2:c.619+7586G>T
AQP11 transcript variant 1	NM_173039.2:c.620-5359=	NM_173039.2:c.620-5359G>T
AQP11 transcript variant 1	NM_173039.3:c.620-5359=	NM_173039.3:c.620-5359G>T
AQP11 transcript variant X3	XM_005273917.1:c.619+7586=	XM_005273917.1:c.619+7586G>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#.

56 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	CSHL-HAPMAP	ss17417038	Feb 27, 2004 (120)
2	CSHL-HAPMAP	ss19905535	Feb 27, 2004 (120)
3	ABI	ss38664497	Mar 14, 2006 (126)
4	1000GENOMES	ss110689319	Jan 25, 2009 (130)
5	1000GENOMES	ss114821845	Jan 25, 2009 (130)
6	ILLUMINA-UK	ss119903982	Dec 01, 2009 (131)
7	ENSEMBL	ss161452090	Dec 01, 2009 (131)
8	COMPLETE_GENOMICS	ss170315343	Jul 04, 2010 (132)
9	BUSHMAN	ss202907920	Jul 04, 2010 (132)
10	1000GENOMES	ss225326080	Jul 14, 2010 (132)
11	1000GENOMES	ss235619866	Jul 15, 2010 (132)
12	1000GENOMES	ss242240341	Jul 15, 2010 (132)
13	GMI	ss281073619	May 04, 2012 (137)
14	TISHKOFF	ss562666524	Apr 25, 2013 (138)
15	SSMP	ss658181215	Apr 25, 2013 (138)
16	EVA-GONL	ss988700022	Aug 21, 2014 (142)
17	JMKIDD_LAB	ss1077850580	Aug 21, 2014 (142)
18	1000GENOMES	ss1341979471	Aug 21, 2014 (142)
19	DDI	ss1426682132	Apr 01, 2015 (144)
20	EVA_GENOME_DK	ss1575803673	Apr 01, 2015 (144)
21	EVA_DECODE	ss1598361243	Apr 01, 2015 (144)
22	EVA_UK10K_ALSPAC	ss1626944091	Apr 01, 2015 (144)
23	EVA_UK10K_TWINSUK	ss1669938124	Apr 01, 2015 (144)
24	HAMMER_LAB	ss1806886811	Sep 08, 2015 (146)
25	WEILL_CORNELL_DGM	ss1932055696	Feb 12, 2016 (147)
26	GENOMED	ss1967395924	Jul 19, 2016 (147)
27	JJLAB	ss2026771970	Sep 14, 2016 (149)
28	USC_VALOUEV	ss2155083655	Dec 20, 2016 (150)
29	HUMAN_LONGEVITY	ss2183735769	Dec 20, 2016 (150)
30	GRF	ss2699379540	Nov 08, 2017 (151)
31	GNOMAD	ss2901679903	Nov 08, 2017 (151)
32	SWEGEN	ss3008383825	Nov 08, 2017 (151)
33	BIOINF_KMB_FNS_UNIBA	ss3027183128	Nov 08, 2017 (151)
34	CSHL	ss3349677276	Nov 08, 2017 (151)
35	EGCUT_WGS	ss3675704121	Jul 13, 2019 (153)
36	EVA_DECODE	ss3692128907	Jul 13, 2019 (153)
37	ACPOP	ss3738324325	Jul 13, 2019 (153)
38	EVA	ss3749510446	Jul 13, 2019 (153)
39	KHV_HUMAN_GENOMES	ss3814844858	Jul 13, 2019 (153)
40	EVA	ss3832711844	Apr 26, 2020 (154)
41	SGDP_PRJ	ss3876622993	Apr 26, 2020 (154)
42	KRGDB	ss3925035383	Apr 26, 2020 (154)
43	KOGIC	ss3970287567	Apr 26, 2020 (154)
44	TOPMED	ss4891367897	Apr 26, 2021 (155)
45	TOMMO_GENOMICS	ss5202798946	Apr 26, 2021 (155)
46	1000G_HIGH_COVERAGE	ss5288045762	Oct 16, 2022 (156)
47	HUGCELL_USP	ss5483138353	Oct 16, 2022 (156)
48	EVA	ss5510420600	Oct 16, 2022 (156)
49	1000G_HIGH_COVERAGE	ss5584073353	Oct 16, 2022 (156)
50	SANFORD_IMAGENETICS	ss5651571160	Oct 16, 2022 (156)
51	TOMMO_GENOMICS	ss5750939700	Oct 16, 2022 (156)
52	YY_MCH	ss5812566345	Oct 16, 2022 (156)
53	EVA	ss5836895926	Oct 16, 2022 (156)
54	EVA	ss5850045586	Oct 16, 2022 (156)
55	EVA	ss5920675083	Oct 16, 2022 (156)
56	EVA	ss5942885034	Oct 16, 2022 (156)
57	1000Genomes	NC_000011.9 - 77309242	Oct 12, 2018 (152)
58	1000Genomes_30x	NC_000011.10 - 77598197	Oct 16, 2022 (156)
59	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 77309242	Oct 12, 2018 (152)
60	Genetic variation in the Estonian population	NC_000011.9 - 77309242	Oct 12, 2018 (152)
61	The Danish reference pan genome	NC_000011.9 - 77309242	Apr 26, 2020 (154)
62	gnomAD - Genomes	NC_000011.10 - 77598197	Apr 26, 2021 (155)
63	Genome of the Netherlands Release 5	NC_000011.9 - 77309242	Apr 26, 2020 (154)
64	KOREAN population from KRGDB	NC_000011.9 - 77309242	Apr 26, 2020 (154)
65	Korean Genome Project	NC_000011.10 - 77598197	Apr 26, 2020 (154)
66	Northern Sweden	NC_000011.9 - 77309242	Jul 13, 2019 (153)
67	Qatari	NC_000011.9 - 77309242	Apr 26, 2020 (154)
68	SGDP_PRJ	NC_000011.9 - 77309242	Apr 26, 2020 (154)
69	Siberian	NC_000011.9 - 77309242	Apr 26, 2020 (154)
70	8.3KJPN	NC_000011.9 - 77309242	Apr 26, 2021 (155)
71	14KJPN	NC_000011.10 - 77598197	Oct 16, 2022 (156)
72	TopMed	NC_000011.10 - 77598197	Apr 26, 2021 (155)
73	UK 10K study - Twins	NC_000011.9 - 77309242	Oct 12, 2018 (152)
74	A Vietnamese Genetic Variation Database	NC_000011.9 - 77309242	Jul 13, 2019 (153)
75	ALFA	NC_000011.10 - 77598197	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss110689319, ss114821845, ss119903982, ss170315343, ss202907920, ss281073619, ss1598361243	NC_000011.8:76986889:G:T	NC_000011.10:77598196:G:T	(self)
54525837, 30263778, 21442369, 2631529, 13502871, 32212777, 11609190, 14097626, 28639973, 7600009, 60768253, 30263778, 6712428, ss225326080, ss235619866, ss242240341, ss562666524, ss658181215, ss988700022, ss1077850580, ss1341979471, ss1426682132, ss1575803673, ss1626944091, ss1669938124, ss1806886811, ss1932055696, ss1967395924, ss2026771970, ss2155083655, ss2699379540, ss2901679903, ss3008383825, ss3349677276, ss3675704121, ss3738324325, ss3749510446, ss3832711844, ss3876622993, ss3925035383, ss5202798946, ss5510420600, ss5651571160, ss5836895926, ss5942885034	NC_000011.9:77309241:G:T	NC_000011.10:77598196:G:T	(self)
71599288, 384867393, 26665568, 84776804, 106913553, 13257632552, ss2183735769, ss3027183128, ss3692128907, ss3814844858, ss3970287567, ss4891367897, ss5288045762, ss5483138353, ss5584073353, ss5750939700, ss5812566345, ss5850045586, ss5920675083	NC_000011.10:77598196:G:T	NC_000011.10:77598196:G:T	(self)
ss17417038, ss19905535	NT_033927.6:7508270:G:T	NC_000011.10:77598196:G:T	(self)
ss38664497, ss161452090	NT_167190.1:22615036:G:T	NC_000011.10:77598196:G: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 rs11237234

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

rs11237234