Name: rs12801662
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.

rs12801662

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:77598613 (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: C>A / C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.287710 (76154/264690, TOPMED)
G=0.294900 (41299/140044, GnomAD)
G=0.38407 (10853/28258, 14KJPN) (+ 17 more)
G=0.29026 (5483/18890, ALFA)
G=0.37475 (6280/16758, 8.3KJPN)
G=0.2737 (1753/6404, 1000G_30x)
G=0.2766 (1385/5008, 1000G)
G=0.3031 (1358/4480, Estonian)
G=0.3020 (1164/3854, ALSPAC)
G=0.2996 (1111/3708, TWINSUK)
G=0.4109 (1204/2930, KOREAN)
G=0.4340 (795/1832, Korea1K)
G=0.332 (331/998, GoNL)
G=0.337 (202/600, NorthernSweden)
G=0.000 (0/320, HapMap)
C=0.434 (98/226, SGDP_PRJ)
G=0.153 (33/216, Qatari)
G=0.439 (94/214, Vietnamese)
G=0.20 (8/40, GENOME_DK)
C=0.32 (11/34, 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	C=0.70974	G=0.29026
European	Sub	14286	C=0.70461	G=0.29539
African	Sub	2946	C=0.7213	G=0.2787
African Others	Sub	114	C=0.675	G=0.325
African American	Sub	2832	C=0.7232	G=0.2768
Asian	Sub	112	C=0.607	G=0.393
East Asian	Sub	86	C=0.60	G=0.40
Other Asian	Sub	26	C=0.62	G=0.38
Latin American 1	Sub	146	C=0.699	G=0.301
Latin American 2	Sub	610	C=0.744	G=0.256
South Asian	Sub	98	C=0.89	G=0.11
Other	Sub	692	C=0.730	G=0.270

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	C=0.712290	G=0.287710
gnomAD - Genomes	Global	Study-wide	140044	C=0.705100	G=0.294900
gnomAD - Genomes	European	Sub	75848	C=0.69336	G=0.30664
gnomAD - Genomes	African	Sub	41964	C=0.71773	G=0.28227
gnomAD - Genomes	American	Sub	13648	C=0.75513	G=0.24487
gnomAD - Genomes	Ashkenazi Jewish	Sub	3316	C=0.7114	G=0.2886
gnomAD - Genomes	East Asian	Sub	3120	C=0.6093	G=0.3907
gnomAD - Genomes	Other	Sub	2148	C=0.6844	G=0.3156
14KJPN	JAPANESE	Study-wide	28258	C=0.61593	G=0.38407
Allele Frequency Aggregator	Total	Global	18890	C=0.70974	G=0.29026
Allele Frequency Aggregator	European	Sub	14286	C=0.70461	G=0.29539
Allele Frequency Aggregator	African	Sub	2946	C=0.7213	G=0.2787
Allele Frequency Aggregator	Other	Sub	692	C=0.730	G=0.270
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.744	G=0.256
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.699	G=0.301
Allele Frequency Aggregator	Asian	Sub	112	C=0.607	G=0.393
Allele Frequency Aggregator	South Asian	Sub	98	C=0.89	G=0.11
8.3KJPN	JAPANESE	Study-wide	16758	C=0.62525	G=0.37475
1000Genomes_30x	Global	Study-wide	6404	C=0.7263	G=0.2737
1000Genomes_30x	African	Sub	1786	C=0.7144	G=0.2856
1000Genomes_30x	Europe	Sub	1266	C=0.6927	G=0.3073
1000Genomes_30x	South Asian	Sub	1202	C=0.8869	G=0.1131
1000Genomes_30x	East Asian	Sub	1170	C=0.6043	G=0.3957
1000Genomes_30x	American	Sub	980	C=0.740	G=0.260
1000Genomes	Global	Study-wide	5008	C=0.7234	G=0.2766
1000Genomes	African	Sub	1322	C=0.7126	G=0.2874
1000Genomes	East Asian	Sub	1008	C=0.6012	G=0.3988
1000Genomes	Europe	Sub	1006	C=0.6849	G=0.3151
1000Genomes	South Asian	Sub	978	C=0.888	G=0.112
1000Genomes	American	Sub	694	C=0.746	G=0.254
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.6969	G=0.3031
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.6980	G=0.3020
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.7004	G=0.2996
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.5891	A=0.0000, G=0.4109, T=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	C=0.5660	G=0.4340
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.668	G=0.332
Northern Sweden	ACPOP	Study-wide	600	C=0.663	G=0.337
HapMap	Global	Study-wide	320	C=1.000	G=0.000
HapMap	American	Sub	118	C=1.000	G=0.000
HapMap	African	Sub	116	C=1.000	G=0.000
HapMap	Asian	Sub	86	C=1.00	G=0.00
SGDP_PRJ	Global	Study-wide	226	C=0.434	G=0.566
Qatari	Global	Study-wide	216	C=0.847	G=0.153
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.561	G=0.439
The Danish reference pan genome	Danish	Study-wide	40	C=0.80	G=0.20
Siberian	Global	Study-wide	34	C=0.32	G=0.68

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.77598613C>A
GRCh38.p14 chr 11	NC_000011.10:g.77598613C>G
GRCh38.p14 chr 11	NC_000011.10:g.77598613C>T
GRCh37.p13 chr 11	NC_000011.9:g.77309658C>A
GRCh37.p13 chr 11	NC_000011.9:g.77309658C>G
GRCh37.p13 chr 11	NC_000011.9:g.77309658C>T

Gene: AQP11, aquaporin 11 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
AQP11 transcript variant 2	NM_001363477.2:c.619+8002… NM_001363477.2:c.619+8002C>A	N/A	Intron Variant
AQP11 transcript variant 1	NM_173039.3:c.620-4943C>A	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	C=	A	G	T
GRCh38.p14 chr 11	NC_000011.10:g.77598613=	NC_000011.10:g.77598613C>A	NC_000011.10:g.77598613C>G	NC_000011.10:g.77598613C>T
GRCh37.p13 chr 11	NC_000011.9:g.77309658=	NC_000011.9:g.77309658C>A	NC_000011.9:g.77309658C>G	NC_000011.9:g.77309658C>T
AQP11 transcript variant 2	NM_001363477.2:c.619+8002=	NM_001363477.2:c.619+8002C>A	NM_001363477.2:c.619+8002C>G	NM_001363477.2:c.619+8002C>T
AQP11 transcript variant 1	NM_173039.2:c.620-4943=	NM_173039.2:c.620-4943C>A	NM_173039.2:c.620-4943C>G	NM_173039.2:c.620-4943C>T
AQP11 transcript variant 1	NM_173039.3:c.620-4943=	NM_173039.3:c.620-4943C>A	NM_173039.3:c.620-4943C>G	NM_173039.3:c.620-4943C>T
AQP11 transcript variant X3	XM_005273917.1:c.619+8002=	XM_005273917.1:c.619+8002C>A	XM_005273917.1:c.619+8002C>G	XM_005273917.1:c.619+8002C>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#.

64 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SSAHASNP	ss20822695	Apr 05, 2004 (121)
2	ABI	ss38741506	Mar 15, 2006 (126)
3	HGSV	ss77634941	Dec 07, 2007 (129)
4	HGSV	ss83577249	Dec 14, 2007 (130)
5	HUMANGENOME_JCVI	ss97399393	Feb 04, 2009 (130)
6	BGI	ss102978059	Dec 01, 2009 (131)
7	ENSEMBL	ss137649142	Dec 01, 2009 (131)
8	COMPLETE_GENOMICS	ss168595297	Jul 04, 2010 (132)
9	BCM-HGSC-SUB	ss207640709	Jul 04, 2010 (132)
10	1000GENOMES	ss211155835	Jul 14, 2010 (132)
11	1000GENOMES	ss225326082	Jul 14, 2010 (132)
12	1000GENOMES	ss235619868	Jul 15, 2010 (132)
13	1000GENOMES	ss242240343	Jul 15, 2010 (132)
14	BL	ss255291208	May 09, 2011 (134)
15	GMI	ss281073621	May 04, 2012 (137)
16	PJP	ss291077125	May 09, 2011 (134)
17	TISHKOFF	ss562666527	Apr 25, 2013 (138)
18	SSMP	ss658181217	Apr 25, 2013 (138)
19	EVA-GONL	ss988700025	Aug 21, 2014 (142)
20	JMKIDD_LAB	ss1077850584	Aug 21, 2014 (142)
21	1000GENOMES	ss1341979483	Aug 21, 2014 (142)
22	DDI	ss1426682134	Apr 01, 2015 (144)
23	EVA_GENOME_DK	ss1575803680	Apr 01, 2015 (144)
24	EVA_DECODE	ss1598361246	Apr 01, 2015 (144)
25	EVA_UK10K_ALSPAC	ss1626944097	Apr 01, 2015 (144)
26	EVA_UK10K_TWINSUK	ss1669938130	Apr 01, 2015 (144)
27	HAMMER_LAB	ss1806886814	Sep 08, 2015 (146)
28	WEILL_CORNELL_DGM	ss1932055699	Feb 12, 2016 (147)
29	JJLAB	ss2026771973	Sep 14, 2016 (149)
30	USC_VALOUEV	ss2155083658	Dec 20, 2016 (150)
31	HUMAN_LONGEVITY	ss2183735789	Dec 20, 2016 (150)
32	SYSTEMSBIOZJU	ss2627860401	Nov 08, 2017 (151)
33	GRF	ss2699379543	Nov 08, 2017 (151)
34	GNOMAD	ss2901679928	Nov 08, 2017 (151)
35	SWEGEN	ss3008383832	Nov 08, 2017 (151)
36	BIOINF_KMB_FNS_UNIBA	ss3027183130	Nov 08, 2017 (151)
37	CSHL	ss3349677279	Nov 08, 2017 (151)
38	URBANLAB	ss3649647139	Oct 12, 2018 (152)
39	EGCUT_WGS	ss3675704128	Jul 13, 2019 (153)
40	EVA_DECODE	ss3692128913	Jul 13, 2019 (153)
41	ACPOP	ss3738324331	Jul 13, 2019 (153)
42	EVA	ss3749510450	Jul 13, 2019 (153)
43	PACBIO	ss3786998040	Jul 13, 2019 (153)
44	PACBIO	ss3792131673	Jul 13, 2019 (153)
45	PACBIO	ss3797014033	Jul 13, 2019 (153)
46	KHV_HUMAN_GENOMES	ss3814844863	Jul 13, 2019 (153)
47	EVA	ss3832711847	Apr 26, 2020 (154)
48	SGDP_PRJ	ss3876622998	Apr 26, 2020 (154)
49	KRGDB	ss3925035388	Apr 26, 2020 (154)
50	KOGIC	ss3970287571	Apr 26, 2020 (154)
51	TOPMED	ss4891367988	Apr 26, 2021 (155)
52	TOMMO_GENOMICS	ss5202798958	Apr 26, 2021 (155)
53	1000G_HIGH_COVERAGE	ss5288045772	Oct 16, 2022 (156)
54	EVA	ss5400691327	Oct 16, 2022 (156)
55	HUGCELL_USP	ss5483138362	Oct 16, 2022 (156)
56	EVA	ss5510420603	Oct 16, 2022 (156)
57	1000G_HIGH_COVERAGE	ss5584073367	Oct 16, 2022 (156)
58	SANFORD_IMAGENETICS	ss5651571167	Oct 16, 2022 (156)
59	TOMMO_GENOMICS	ss5750939713	Oct 16, 2022 (156)
60	YY_MCH	ss5812566349	Oct 16, 2022 (156)
61	EVA	ss5836895929	Oct 16, 2022 (156)
62	EVA	ss5850045588	Oct 16, 2022 (156)
63	EVA	ss5920675096	Oct 16, 2022 (156)
64	EVA	ss5942885040	Oct 16, 2022 (156)
65	1000Genomes	NC_000011.9 - 77309658	Oct 12, 2018 (152)
66	1000Genomes_30x	NC_000011.10 - 77598613	Oct 16, 2022 (156)
67	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 77309658	Oct 12, 2018 (152)
68	Genetic variation in the Estonian population	NC_000011.9 - 77309658	Oct 12, 2018 (152)
69	The Danish reference pan genome	NC_000011.9 - 77309658	Apr 26, 2020 (154)
70	gnomAD - Genomes	NC_000011.10 - 77598613	Apr 26, 2021 (155)
71	Genome of the Netherlands Release 5	NC_000011.9 - 77309658	Apr 26, 2020 (154)
72	HapMap	NC_000011.10 - 77598613	Apr 26, 2020 (154)
73	KOREAN population from KRGDB	NC_000011.9 - 77309658	Apr 26, 2020 (154)
74	Korean Genome Project	NC_000011.10 - 77598613	Apr 26, 2020 (154)
75	Northern Sweden	NC_000011.9 - 77309658	Jul 13, 2019 (153)
76	Qatari	NC_000011.9 - 77309658	Apr 26, 2020 (154)
77	SGDP_PRJ	NC_000011.9 - 77309658	Apr 26, 2020 (154)
78	Siberian	NC_000011.9 - 77309658	Apr 26, 2020 (154)
79	8.3KJPN	NC_000011.9 - 77309658	Apr 26, 2021 (155)
80	14KJPN	NC_000011.10 - 77598613	Oct 16, 2022 (156)
81	TopMed	NC_000011.10 - 77598613	Apr 26, 2021 (155)
82	UK 10K study - Twins	NC_000011.9 - 77309658	Oct 12, 2018 (152)
83	A Vietnamese Genetic Variation Database	NC_000011.9 - 77309658	Jul 13, 2019 (153)
84	ALFA	NC_000011.10 - 77598613	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)
rs57060781	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
32212782, ss3925035388	NC_000011.9:77309657:C:A	NC_000011.10:77598612:C:A	(self)
ss77634941, ss83577249, ss168595297, ss207640709, ss211155835, ss255291208, ss281073621, ss291077125, ss1598361246	NC_000011.8:76987305:C:G	NC_000011.10:77598612:C:G	(self)
54525851, 30263785, 21442376, 2631532, 13502874, 32212782, 11609196, 14097629, 28639978, 7600012, 60768265, 30263785, 6712431, ss225326082, ss235619868, ss242240343, ss562666527, ss658181217, ss988700025, ss1077850584, ss1341979483, ss1426682134, ss1575803680, ss1626944097, ss1669938130, ss1806886814, ss1932055699, ss2026771973, ss2155083658, ss2627860401, ss2699379543, ss2901679928, ss3008383832, ss3349677279, ss3675704128, ss3738324331, ss3749510450, ss3786998040, ss3792131673, ss3797014033, ss3832711847, ss3876622998, ss3925035388, ss5202798958, ss5400691327, ss5510420603, ss5651571167, ss5836895929, ss5942885040	NC_000011.9:77309657:C:G	NC_000011.10:77598612:C:G	(self)
71599302, 384867452, 641419, 26665572, 84776817, 106913644, 8855128797, ss2183735789, ss3027183130, ss3649647139, ss3692128913, ss3814844863, ss3970287571, ss4891367988, ss5288045772, ss5483138362, ss5584073367, ss5750939713, ss5812566349, ss5850045588, ss5920675096	NC_000011.10:77598612:C:G	NC_000011.10:77598612:C:G	(self)
ss20822695	NT_033927.6:7508686:C:G	NC_000011.10:77598612:C:G	(self)
ss38741506, ss97399393, ss102978059, ss137649142	NT_167190.1:22615452:C:G	NC_000011.10:77598612:C:G	(self)
32212782, ss3925035388	NC_000011.9:77309657:C:T	NC_000011.10:77598612:C: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 rs12801662

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

rs12801662