Name: rs591810
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.

rs591810

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr9:33447426 (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: C=0.247950 (65630/264690, TOPMED)
C=0.245507 (34398/140110, GnomAD)
C=0.30104 (11517/38258, ALFA) (+ 17 more)
C=0.31711 (8961/28258, 14KJPN)
C=0.31587 (5294/16760, 8.3KJPN)
C=0.25759 (3343/12978, GO-ESP)
C=0.2552 (1634/6404, 1000G_30x)
C=0.2588 (1296/5008, 1000G)
C=0.2699 (1209/4480, Estonian)
C=0.2880 (1110/3854, ALSPAC)
C=0.2686 (996/3708, TWINSUK)
C=0.2401 (703/2928, KOREAN)
C=0.2404 (440/1830, Korea1K)
C=0.239 (146/612, Vietnamese)
C=0.275 (165/600, NorthernSweden)
G=0.142 (76/534, MGP)
C=0.180 (88/488, SGDP_PRJ)
C=0.352 (76/216, Qatari)
C=0.12 (7/56, Siberian)
C=0.38 (15/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: AQP3 : Synonymous Variant
Publications: 1 citation
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	38258	C=0.30104	A=0.00000, G=0.69896, T=0.00000
European	Sub	30244	C=0.30065	A=0.00000, G=0.69935, T=0.00000
African	Sub	878	C=0.363	A=0.000, G=0.637, T=0.000
African Others	Sub	24	C=0.50	A=0.00, G=0.50, T=0.00
African American	Sub	854	C=0.359	A=0.000, G=0.641, T=0.000
Asian	Sub	74	C=0.45	A=0.00, G=0.55, T=0.00
East Asian	Sub	36	C=0.50	A=0.00, G=0.50, T=0.00
Other Asian	Sub	38	C=0.39	A=0.00, G=0.61, T=0.00
Latin American 1	Sub	366	C=0.262	A=0.000, G=0.738, T=0.000
Latin American 2	Sub	48	C=0.71	A=0.00, G=0.29, T=0.00
South Asian	Sub	18	C=0.78	A=0.00, G=0.22, T=0.00
Other	Sub	6630	C=0.2908	A=0.0000, G=0.7092, T=0.0000

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=0.247950	G=0.752050
gnomAD - Genomes	Global	Study-wide	140110	C=0.245507	G=0.754493
gnomAD - Genomes	European	Sub	75878	C=0.26804	G=0.73196
gnomAD - Genomes	African	Sub	41998	C=0.21049	G=0.78951
gnomAD - Genomes	American	Sub	13646	C=0.20365	G=0.79635
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.3266	G=0.6734
gnomAD - Genomes	East Asian	Sub	3116	C=0.2532	G=0.7468
gnomAD - Genomes	Other	Sub	2150	C=0.2637	G=0.7363
Allele Frequency Aggregator	Total	Global	38258	C=0.30104	A=0.00000, G=0.69896, T=0.00000
Allele Frequency Aggregator	European	Sub	30244	C=0.30065	A=0.00000, G=0.69935, T=0.00000
Allele Frequency Aggregator	Other	Sub	6630	C=0.2908	A=0.0000, G=0.7092, T=0.0000
Allele Frequency Aggregator	African	Sub	878	C=0.363	A=0.000, G=0.637, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	366	C=0.262	A=0.000, G=0.738, T=0.000
Allele Frequency Aggregator	Asian	Sub	74	C=0.45	A=0.00, G=0.55, T=0.00
Allele Frequency Aggregator	Latin American 2	Sub	48	C=0.71	A=0.00, G=0.29, T=0.00
Allele Frequency Aggregator	South Asian	Sub	18	C=0.78	A=0.00, G=0.22, T=0.00
14KJPN	JAPANESE	Study-wide	28258	C=0.31711	G=0.68289
8.3KJPN	JAPANESE	Study-wide	16760	C=0.31587	G=0.68413
GO Exome Sequencing Project	Global	Study-wide	12978	C=0.25759	G=0.74241
GO Exome Sequencing Project	European American	Sub	8596	C=0.2844	G=0.7156
GO Exome Sequencing Project	African American	Sub	4382	C=0.2049	G=0.7951
1000Genomes_30x	Global	Study-wide	6404	C=0.2552	G=0.7448
1000Genomes_30x	African	Sub	1786	C=0.2150	G=0.7850
1000Genomes_30x	Europe	Sub	1266	C=0.2765	G=0.7235
1000Genomes_30x	South Asian	Sub	1202	C=0.3918	G=0.6082
1000Genomes_30x	East Asian	Sub	1170	C=0.2274	G=0.7726
1000Genomes_30x	American	Sub	980	C=0.166	G=0.834
1000Genomes	Global	Study-wide	5008	C=0.2588	G=0.7412
1000Genomes	African	Sub	1322	C=0.2163	G=0.7837
1000Genomes	East Asian	Sub	1008	C=0.2371	G=0.7629
1000Genomes	Europe	Sub	1006	C=0.2714	G=0.7286
1000Genomes	South Asian	Sub	978	C=0.389	G=0.611
1000Genomes	American	Sub	694	C=0.170	G=0.830
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.2699	G=0.7301
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.2880	G=0.7120
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.2686	G=0.7314
KOREAN population from KRGDB	KOREAN	Study-wide	2928	C=0.2401	A=0.0000, G=0.7599
Korean Genome Project	KOREAN	Study-wide	1830	C=0.2404	G=0.7596
A Vietnamese Genetic Variation Database	Global	Study-wide	612	C=0.239	G=0.761
Northern Sweden	ACPOP	Study-wide	600	C=0.275	G=0.725
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.858	G=0.142
SGDP_PRJ	Global	Study-wide	488	C=0.180	G=0.820
Qatari	Global	Study-wide	216	C=0.352	G=0.648
Siberian	Global	Study-wide	56	C=0.12	G=0.88
The Danish reference pan genome	Danish	Study-wide	40	C=0.38	G=0.62

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 9	NC_000009.12:g.33447426C>A
GRCh38.p14 chr 9	NC_000009.12:g.33447426C>G
GRCh38.p14 chr 9	NC_000009.12:g.33447426C>T
GRCh37.p13 chr 9	NC_000009.11:g.33447424C>A
GRCh37.p13 chr 9	NC_000009.11:g.33447424C>G
GRCh37.p13 chr 9	NC_000009.11:g.33447424C>T
Gill blood group RefSeqGene (LRG_821)	NG_007476.1:g.5167G>T
Gill blood group RefSeqGene (LRG_821)	NG_007476.1:g.5167G>C
Gill blood group RefSeqGene (LRG_821)	NG_007476.1:g.5167G>A

Gene: AQP3, aquaporin 3 (Gill blood group) (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
AQP3 transcript variant 1	NM_004925.5:c.105G>T	L [CTG] > L [CTT]	Coding Sequence Variant
aquaporin-3 isoform 1	NP_004916.1:p.Leu35=	L (Leu) > L (Leu)	Synonymous Variant
AQP3 transcript variant 1	NM_004925.5:c.105G>C	L [CTG] > L [CTC]	Coding Sequence Variant
aquaporin-3 isoform 1	NP_004916.1:p.Leu35=	L (Leu) > L (Leu)	Synonymous Variant
AQP3 transcript variant 1	NM_004925.5:c.105G>A	L [CTG] > L [CTA]	Coding Sequence Variant
aquaporin-3 isoform 1	NP_004916.1:p.Leu35=	L (Leu) > L (Leu)	Synonymous Variant
AQP3 transcript variant 2	NM_001318144.2:c.105G>T	L [CTG] > L [CTT]	Coding Sequence Variant
aquaporin-3 isoform 2	NP_001305073.1:p.Leu35=	L (Leu) > L (Leu)	Synonymous Variant
AQP3 transcript variant 2	NM_001318144.2:c.105G>C	L [CTG] > L [CTC]	Coding Sequence Variant
aquaporin-3 isoform 2	NP_001305073.1:p.Leu35=	L (Leu) > L (Leu)	Synonymous Variant
AQP3 transcript variant 2	NM_001318144.2:c.105G>A	L [CTG] > L [CTA]	Coding Sequence Variant
aquaporin-3 isoform 2	NP_001305073.1:p.Leu35=	L (Leu) > L (Leu)	Synonymous Variant
AQP3 transcript variant X1	XM_047423348.1:c.105G>T	L [CTG] > L [CTT]	Coding Sequence Variant
aquaporin-3 isoform X1	XP_047279304.1:p.Leu35=	L (Leu) > L (Leu)	Synonymous Variant
AQP3 transcript variant X1	XM_047423348.1:c.105G>C	L [CTG] > L [CTC]	Coding Sequence Variant
aquaporin-3 isoform X1	XP_047279304.1:p.Leu35=	L (Leu) > L (Leu)	Synonymous Variant
AQP3 transcript variant X1	XM_047423348.1:c.105G>A	L [CTG] > L [CTA]	Coding Sequence Variant
aquaporin-3 isoform X1	XP_047279304.1:p.Leu35=	L (Leu) > L (Leu)	Synonymous 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 9	NC_000009.12:g.33447426=	NC_000009.12:g.33447426C>A	NC_000009.12:g.33447426C>G	NC_000009.12:g.33447426C>T
GRCh37.p13 chr 9	NC_000009.11:g.33447424=	NC_000009.11:g.33447424C>A	NC_000009.11:g.33447424C>G	NC_000009.11:g.33447424C>T
Gill blood group RefSeqGene (LRG_821)	NG_007476.1:g.5167=	NG_007476.1:g.5167G>T	NG_007476.1:g.5167G>C	NG_007476.1:g.5167G>A
AQP3 transcript variant 1	NM_004925.5:c.105=	NM_004925.5:c.105G>T	NM_004925.5:c.105G>C	NM_004925.5:c.105G>A
AQP3 transcript variant 1	NM_004925.4:c.105=	NM_004925.4:c.105G>T	NM_004925.4:c.105G>C	NM_004925.4:c.105G>A
AQP3 transcript variant 2	NM_001318144.2:c.105=	NM_001318144.2:c.105G>T	NM_001318144.2:c.105G>C	NM_001318144.2:c.105G>A
AQP3 transcript variant 2	NM_001318144.1:c.105=	NM_001318144.1:c.105G>T	NM_001318144.1:c.105G>C	NM_001318144.1:c.105G>A
AQP3 transcript variant X1	XM_047423348.1:c.105=	XM_047423348.1:c.105G>T	XM_047423348.1:c.105G>C	XM_047423348.1:c.105G>A
aquaporin-3 isoform 1	NP_004916.1:p.Leu35=	NP_004916.1:p.Leu35=	NP_004916.1:p.Leu35=	NP_004916.1:p.Leu35=
aquaporin-3 isoform 2	NP_001305073.1:p.Leu35=	NP_001305073.1:p.Leu35=	NP_001305073.1:p.Leu35=	NP_001305073.1:p.Leu35=
aquaporin-3 isoform X1	XP_047279304.1:p.Leu35=	XP_047279304.1:p.Leu35=	XP_047279304.1:p.Leu35=	XP_047279304.1:p.Leu35=

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#.

117 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss763586	Aug 11, 2000 (83)
2	KWOK	ss1144529	Oct 04, 2000 (86)
3	KWOK	ss1704114	Oct 18, 2000 (87)
4	SC_JCM	ss2610222	Nov 08, 2000 (89)
5	SC_JCM	ss3928499	Sep 28, 2001 (100)
6	WI_SSAHASNP	ss6740662	Feb 20, 2003 (111)
7	CSHL-HAPMAP	ss17283732	Feb 27, 2004 (120)
8	SSAHASNP	ss22860754	Apr 05, 2004 (121)
9	PGA-UW-FHCRC	ss38347553	Mar 13, 2006 (126)
10	ILLUMINA	ss65728717	Oct 15, 2006 (127)
11	BCMHGSC_JDW	ss94046019	Mar 25, 2008 (129)
12	HUMANGENOME_JCVI	ss97720729	Feb 05, 2009 (130)
13	BGI	ss104614126	Dec 01, 2009 (131)
14	1000GENOMES	ss108745339	Jan 23, 2009 (130)
15	1000GENOMES	ss114437795	Jan 25, 2009 (130)
16	ENSEMBL	ss143972629	Dec 01, 2009 (131)
17	ENSEMBL	ss144079378	Dec 01, 2009 (131)
18	GMI	ss157420969	Dec 01, 2009 (131)
19	SEATTLESEQ	ss159718160	Dec 01, 2009 (131)
20	COMPLETE_GENOMICS	ss164070897	Jul 04, 2010 (132)
21	COMPLETE_GENOMICS	ss164992339	Jul 04, 2010 (132)
22	COMPLETE_GENOMICS	ss166418098	Jul 04, 2010 (132)
23	ILLUMINA	ss173938675	Jul 04, 2010 (132)
24	BUSHMAN	ss200337474	Jul 04, 2010 (132)
25	BCM-HGSC-SUB	ss206844224	Jul 04, 2010 (132)
26	1000GENOMES	ss224225699	Jul 14, 2010 (132)
27	1000GENOMES	ss234801287	Jul 15, 2010 (132)
28	1000GENOMES	ss241580961	Jul 15, 2010 (132)
29	GMI	ss280189196	May 04, 2012 (137)
30	PJP	ss294436848	May 09, 2011 (134)
31	NHLBI-ESP	ss342271884	May 09, 2011 (134)
32	1000GENOMES	ss490976554	May 04, 2012 (137)
33	CLINSEQ_SNP	ss491934403	May 04, 2012 (137)
34	ILLUMINA	ss535952441	Sep 08, 2015 (146)
35	TISHKOFF	ss561360413	Apr 25, 2013 (138)
36	SSMP	ss655802477	Apr 25, 2013 (138)
37	JMKIDD_LAB	ss974470507	Aug 21, 2014 (142)
38	EVA-GONL	ss986511459	Aug 21, 2014 (142)
39	JMKIDD_LAB	ss1067503056	Aug 21, 2014 (142)
40	JMKIDD_LAB	ss1076271972	Aug 21, 2014 (142)
41	1000GENOMES	ss1333665186	Aug 21, 2014 (142)
42	DDI	ss1431812963	Apr 01, 2015 (144)
43	EVA_GENOME_DK	ss1583069746	Apr 01, 2015 (144)
44	EVA_DECODE	ss1596149543	Apr 01, 2015 (144)
45	EVA_UK10K_ALSPAC	ss1622649830	Apr 01, 2015 (144)
46	EVA_UK10K_TWINSUK	ss1665643863	Apr 01, 2015 (144)
47	EVA_EXAC	ss1689457851	Apr 01, 2015 (144)
48	EVA_EXAC	ss1689457852	Apr 01, 2015 (144)
49	EVA_MGP	ss1711219549	Apr 01, 2015 (144)
50	HAMMER_LAB	ss1805966335	Sep 08, 2015 (146)
51	WEILL_CORNELL_DGM	ss1929797878	Feb 12, 2016 (147)
52	GENOMED	ss1971202829	Jul 19, 2016 (147)
53	JJLAB	ss2025612532	Sep 14, 2016 (149)
54	USC_VALOUEV	ss2153838678	Dec 20, 2016 (150)
55	HUMAN_LONGEVITY	ss2310968028	Dec 20, 2016 (150)
56	SYSTEMSBIOZJU	ss2627281273	Nov 08, 2017 (151)
57	GRF	ss2709648977	Nov 08, 2017 (151)
58	GNOMAD	ss2737561261	Nov 08, 2017 (151)
59	GNOMAD	ss2748171795	Nov 08, 2017 (151)
60	GNOMAD	ss2877561111	Nov 08, 2017 (151)
61	SWEGEN	ss3004684911	Nov 08, 2017 (151)
62	ILLUMINA	ss3022923988	Nov 08, 2017 (151)
63	EVA_SAMSUNG_MC	ss3023064409	Nov 08, 2017 (151)
64	BIOINF_KMB_FNS_UNIBA	ss3026596326	Nov 08, 2017 (151)
65	CSHL	ss3348614520	Nov 08, 2017 (151)
66	ILLUMINA	ss3630255148	Oct 12, 2018 (152)
67	ILLUMINA	ss3638810651	Oct 12, 2018 (152)
68	OMUKHERJEE_ADBS	ss3646385990	Oct 12, 2018 (152)
69	URBANLAB	ss3649115017	Oct 12, 2018 (152)
70	ILLUMINA	ss3653475561	Oct 12, 2018 (152)
71	EGCUT_WGS	ss3672438866	Jul 13, 2019 (153)
72	EVA_DECODE	ss3723838667	Jul 13, 2019 (153)
73	ILLUMINA	ss3726607804	Jul 13, 2019 (153)
74	ACPOP	ss3736476017	Jul 13, 2019 (153)
75	EVA	ss3769149184	Jul 13, 2019 (153)
76	PACBIO	ss3786397761	Jul 13, 2019 (153)
77	PACBIO	ss3791617297	Jul 13, 2019 (153)
78	PACBIO	ss3796498992	Jul 13, 2019 (153)
79	KHV_HUMAN_GENOMES	ss3812307554	Jul 13, 2019 (153)
80	EVA	ss3824424034	Apr 26, 2020 (154)
81	EVA	ss3825525562	Apr 26, 2020 (154)
82	EVA	ss3825541220	Apr 26, 2020 (154)
83	EVA	ss3825753752	Apr 26, 2020 (154)
84	EVA	ss3831635628	Apr 26, 2020 (154)
85	EVA	ss3839335350	Apr 26, 2020 (154)
86	EVA	ss3844798561	Apr 26, 2020 (154)
87	SGDP_PRJ	ss3871924244	Apr 26, 2020 (154)
88	KRGDB	ss3919595344	Apr 26, 2020 (154)
89	KOGIC	ss3965646278	Apr 26, 2020 (154)
90	FSA-LAB	ss3984416050	Apr 26, 2021 (155)
91	FSA-LAB	ss3984416051	Apr 26, 2021 (155)
92	EVA	ss3986045910	Apr 26, 2021 (155)
93	EVA	ss3986444785	Apr 26, 2021 (155)
94	TOPMED	ss4819332846	Apr 26, 2021 (155)
95	TOMMO_GENOMICS	ss5192919877	Apr 26, 2021 (155)
96	EVA	ss5237047996	Apr 26, 2021 (155)
97	EVA	ss5237203848	Apr 26, 2021 (155)
98	1000G_HIGH_COVERAGE	ss5280451574	Oct 13, 2022 (156)
99	TRAN_CS_UWATERLOO	ss5314425225	Oct 13, 2022 (156)
100	EVA	ss5387235892	Oct 13, 2022 (156)
101	HUGCELL_USP	ss5476662470	Oct 13, 2022 (156)
102	1000G_HIGH_COVERAGE	ss5572579150	Oct 13, 2022 (156)
103	EVA	ss5624183311	Oct 13, 2022 (156)
104	SANFORD_IMAGENETICS	ss5647291914	Oct 13, 2022 (156)
105	TOMMO_GENOMICS	ss5736202727	Oct 13, 2022 (156)
106	EVA	ss5799437231	Oct 13, 2022 (156)
107	EVA	ss5800060177	Oct 13, 2022 (156)
108	EVA	ss5800151016	Oct 13, 2022 (156)
109	YY_MCH	ss5810509361	Oct 13, 2022 (156)
110	EVA	ss5829104860	Oct 13, 2022 (156)
111	EVA	ss5848720442	Oct 13, 2022 (156)
112	EVA	ss5856753429	Oct 13, 2022 (156)
113	EVA	ss5916279510	Oct 13, 2022 (156)
114	EVA	ss5936540837	Oct 13, 2022 (156)
115	EVA	ss5976573138	Oct 13, 2022 (156)
116	EVA	ss5980550004	Oct 13, 2022 (156)
117	EVA	ss5981253813	Oct 13, 2022 (156)
118	1000Genomes	NC_000009.11 - 33447424	Oct 12, 2018 (152)
119	1000Genomes_30x	NC_000009.12 - 33447426	Oct 13, 2022 (156)
120	The Avon Longitudinal Study of Parents and Children	NC_000009.11 - 33447424	Oct 12, 2018 (152)
121	Genetic variation in the Estonian population	NC_000009.11 - 33447424	Oct 12, 2018 (152)
122	ExAC Submission ignored due to conflicting rows: Row 9578210 (NC_000009.11:33447423:C:C 25058/88580, NC_000009.11:33447423:C:G 63522/88580) Row 9578211 (NC_000009.11:33447423:C:C 88577/88580, NC_000009.11:33447423:C:A 3/88580)	-	Oct 12, 2018 (152)
123	ExAC Submission ignored due to conflicting rows: Row 9578210 (NC_000009.11:33447423:C:C 25058/88580, NC_000009.11:33447423:C:G 63522/88580) Row 9578211 (NC_000009.11:33447423:C:C 88577/88580, NC_000009.11:33447423:C:A 3/88580)	-	Oct 12, 2018 (152)
124	The Danish reference pan genome	NC_000009.11 - 33447424	Apr 26, 2020 (154)
125	gnomAD - Genomes	NC_000009.12 - 33447426	Apr 26, 2021 (155)
126	gnomAD - Exomes Submission ignored due to conflicting rows: Row 6743501 (NC_000009.11:33447423:C:C 218264/218270, NC_000009.11:33447423:C:A 6/218270) Row 6743502 (NC_000009.11:33447423:C:C 59313/218270, NC_000009.11:33447423:C:G 158957/218270)	-	Jul 13, 2019 (153)
127	gnomAD - Exomes Submission ignored due to conflicting rows: Row 6743501 (NC_000009.11:33447423:C:C 218264/218270, NC_000009.11:33447423:C:A 6/218270) Row 6743502 (NC_000009.11:33447423:C:C 59313/218270, NC_000009.11:33447423:C:G 158957/218270)	-	Jul 13, 2019 (153)
128	GO Exome Sequencing Project	NC_000009.11 - 33447424	Oct 12, 2018 (152)
129	KOREAN population from KRGDB	NC_000009.11 - 33447424	Apr 26, 2020 (154)
130	Korean Genome Project	NC_000009.12 - 33447426	Apr 26, 2020 (154)
131	Medical Genome Project healthy controls from Spanish population	NC_000009.11 - 33447424	Apr 26, 2020 (154)
132	Northern Sweden	NC_000009.11 - 33447424	Jul 13, 2019 (153)
133	Qatari	NC_000009.11 - 33447424	Apr 26, 2020 (154)
134	SGDP_PRJ	NC_000009.11 - 33447424	Apr 26, 2020 (154)
135	Siberian	NC_000009.11 - 33447424	Apr 26, 2020 (154)
136	8.3KJPN	NC_000009.11 - 33447424	Apr 26, 2021 (155)
137	14KJPN	NC_000009.12 - 33447426	Oct 13, 2022 (156)
138	TopMed	NC_000009.12 - 33447426	Apr 26, 2021 (155)
139	UK 10K study - Twins	NC_000009.11 - 33447424	Oct 12, 2018 (152)
140	A Vietnamese Genetic Variation Database	NC_000009.11 - 33447424	Jul 13, 2019 (153)
141	ALFA	NC_000009.12 - 33447426	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)
rs2228334	May 29, 2002 (105)
rs11546514	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
26772738, ss1689457852, ss2737561261, ss3919595344	NC_000009.11:33447423:C:A	NC_000009.12:33447425:C:A	(self)
7795371226	NC_000009.12:33447425:C:A	NC_000009.12:33447425:C:A	(self)
ss94046019, ss108745339, ss114437795, ss164070897, ss164992339, ss166418098, ss200337474, ss206844224, ss280189196, ss294436848, ss491934403, ss1596149543	NC_000009.10:33437423:C:G	NC_000009.12:33447425:C:G	(self)
45916984, 25540914, 18177114, 9234683, 881837, 26772738, 335309, 9760882, 11839808, 23941224, 6355032, 50889184, 25540914, 5677904, ss224225699, ss234801287, ss241580961, ss342271884, ss490976554, ss535952441, ss561360413, ss655802477, ss974470507, ss986511459, ss1067503056, ss1076271972, ss1333665186, ss1431812963, ss1583069746, ss1622649830, ss1665643863, ss1689457851, ss1711219549, ss1805966335, ss1929797878, ss1971202829, ss2025612532, ss2153838678, ss2627281273, ss2709648977, ss2737561261, ss2748171795, ss2877561111, ss3004684911, ss3022923988, ss3023064409, ss3348614520, ss3630255148, ss3638810651, ss3646385990, ss3653475561, ss3672438866, ss3736476017, ss3769149184, ss3786397761, ss3791617297, ss3796498992, ss3824424034, ss3825525562, ss3825541220, ss3825753752, ss3831635628, ss3839335350, ss3871924244, ss3919595344, ss3984416050, ss3984416051, ss3986045910, ss3986444785, ss5192919877, ss5387235892, ss5624183311, ss5647291914, ss5799437231, ss5800060177, ss5800151016, ss5829104860, ss5848720442, ss5936540837, ss5976573138, ss5980550004, ss5981253813	NC_000009.11:33447423:C:G	NC_000009.12:33447425:C:G	(self)
60105085, 323586865, 22024279, 70039831, 656710407, 7795371226, ss2310968028, ss3026596326, ss3649115017, ss3723838667, ss3726607804, ss3812307554, ss3844798561, ss3965646278, ss4819332846, ss5237047996, ss5237203848, ss5280451574, ss5314425225, ss5476662470, ss5572579150, ss5736202727, ss5810509361, ss5856753429, ss5916279510	NC_000009.12:33447425:C:G	NC_000009.12:33447425:C:G	(self)
ss17283732, ss22860754	NT_008413.16:33437423:C:G	NC_000009.12:33447425:C:G	(self)
ss763586, ss1144529, ss1704114, ss2610222, ss3928499, ss6740662, ss38347553, ss65728717, ss97720729, ss104614126, ss143972629, ss144079378, ss157420969, ss159718160, ss173938675	NT_008413.18:33437423:C:G	NC_000009.12:33447425:C:G	(self)
7795371226	NC_000009.12:33447425:C:T	NC_000009.12:33447425:C:T	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs591810

PMID	Title	Author	Year	Journal
27509294	Ménière's Disease: Molecular Analysis of Aquaporins 2, 3 and Potassium Channel KCNE1 Genes in Brazilian Patients.	Lopes Kde C et al.	2016	Otology & neurotology

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs591810