Name: rs28362692
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.

rs28362692

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:30912043 (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>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.034108 (6874/201538, ALFA)
T=0.026468 (3189/120484, ExAC)
T=0.01131 (888/78484, PAGE_STUDY) (+ 18 more)
T=0.00237 (67/28258, 14KJPN)
T=0.00239 (40/16758, 8.3KJPN)
T=0.0108 (69/6404, 1000G_30x)
T=0.0114 (57/5008, 1000G)
T=0.0498 (223/4480, Estonian)
T=0.0392 (151/3854, ALSPAC)
T=0.0475 (176/3708, TWINSUK)
T=0.0003 (1/2922, KOREAN)
T=0.0005 (1/1832, Korea1K)
T=0.045 (45/998, GoNL)
T=0.001 (1/792, PRJEB37584)
T=0.063 (38/600, NorthernSweden)
T=0.021 (11/534, MGP)
T=0.046 (14/304, FINRISK)
T=0.005 (1/216, Qatari)
T=0.12 (5/40, GENOME_DK)
C=0.5 (3/6, SGDP_PRJ)
T=0.5 (3/6, SGDP_PRJ)

Clinical Significance: Reported in ClinVar
Gene : Consequence: AQP1 : Missense Variant
Publications: 2 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	217928	C=0.966044	A=0.000000, T=0.033956
European	Sub	187304	C=0.963615	A=0.000000, T=0.036385
African	Sub	13646	C=0.99201	A=0.00000, T=0.00799
African Others	Sub	476	C=0.998	A=0.000, T=0.002
African American	Sub	13170	C=0.99180	A=0.00000, T=0.00820
Asian	Sub	214	C=1.000	A=0.000, T=0.000
East Asian	Sub	128	C=1.000	A=0.000, T=0.000
Other Asian	Sub	86	C=1.00	A=0.00, T=0.00
Latin American 1	Sub	822	C=0.987	A=0.000, T=0.013
Latin American 2	Sub	660	C=1.000	A=0.000, T=0.000
South Asian	Sub	126	C=1.000	A=0.000, T=0.000
Other	Sub	15156	C=0.96932	A=0.00000, T=0.03068

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
Allele Frequency Aggregator	Total	Global	201538	C=0.965892	A=0.000000, T=0.034108
Allele Frequency Aggregator	European	Sub	177186	C=0.963925	A=0.000000, T=0.036075
Allele Frequency Aggregator	Other	Sub	13722	C=0.96990	A=0.00000, T=0.03010
Allele Frequency Aggregator	African	Sub	8808	C=0.9934	A=0.0000, T=0.0066
Allele Frequency Aggregator	Latin American 1	Sub	822	C=0.987	A=0.000, T=0.013
Allele Frequency Aggregator	Latin American 2	Sub	660	C=1.000	A=0.000, T=0.000
Allele Frequency Aggregator	Asian	Sub	214	C=1.000	A=0.000, T=0.000
Allele Frequency Aggregator	South Asian	Sub	126	C=1.000	A=0.000, T=0.000
ExAC	Global	Study-wide	120484	C=0.973532	T=0.026468
ExAC	Europe	Sub	72646	C=0.96051	T=0.03949
ExAC	Asian	Sub	25124	C=0.99654	T=0.00346
ExAC	American	Sub	11550	C=0.98952	T=0.01048
ExAC	African	Sub	10274	C=0.99075	T=0.00925
ExAC	Other	Sub	890	C=0.981	T=0.019
The PAGE Study	Global	Study-wide	78484	C=0.98869	T=0.01131
The PAGE Study	AfricanAmerican	Sub	32342	C=0.98980	T=0.01020
The PAGE Study	Mexican	Sub	10806	C=0.98445	T=0.01555
The PAGE Study	Asian	Sub	8308	C=0.9964	T=0.0036
The PAGE Study	PuertoRican	Sub	7912	C=0.9914	T=0.0086
The PAGE Study	NativeHawaiian	Sub	4520	C=0.9903	T=0.0097
The PAGE Study	Cuban	Sub	4230	C=0.9830	T=0.0170
The PAGE Study	Dominican	Sub	3822	C=0.9780	T=0.0220
The PAGE Study	CentralAmerican	Sub	2448	C=0.9869	T=0.0131
The PAGE Study	SouthAmerican	Sub	1982	C=0.9904	T=0.0096
The PAGE Study	NativeAmerican	Sub	1258	C=0.9706	T=0.0294
The PAGE Study	SouthAsian	Sub	856	C=0.995	T=0.005
14KJPN	JAPANESE	Study-wide	28258	C=0.99763	T=0.00237
8.3KJPN	JAPANESE	Study-wide	16758	C=0.99761	T=0.00239
1000Genomes_30x	Global	Study-wide	6404	C=0.9892	T=0.0108
1000Genomes_30x	African	Sub	1786	C=0.9922	T=0.0078
1000Genomes_30x	Europe	Sub	1266	C=0.9676	T=0.0324
1000Genomes_30x	South Asian	Sub	1202	C=0.9958	T=0.0042
1000Genomes_30x	East Asian	Sub	1170	C=1.0000	T=0.0000
1000Genomes_30x	American	Sub	980	C=0.991	T=0.009
1000Genomes	Global	Study-wide	5008	C=0.9886	T=0.0114
1000Genomes	African	Sub	1322	C=0.9909	T=0.0091
1000Genomes	East Asian	Sub	1008	C=1.0000	T=0.0000
1000Genomes	Europe	Sub	1006	C=0.9662	T=0.0338
1000Genomes	South Asian	Sub	978	C=0.996	T=0.004
1000Genomes	American	Sub	694	C=0.990	T=0.010
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9502	T=0.0498
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9608	T=0.0392
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9525	T=0.0475
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=0.9997	T=0.0003
Korean Genome Project	KOREAN	Study-wide	1832	C=0.9995	T=0.0005
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.955	T=0.045
CNV burdens in cranial meningiomas	Global	Study-wide	792	C=0.999	T=0.001
CNV burdens in cranial meningiomas	CRM	Sub	792	C=0.999	T=0.001
Northern Sweden	ACPOP	Study-wide	600	C=0.937	T=0.063
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.979	T=0.021
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.954	T=0.046
Qatari	Global	Study-wide	216	C=0.995	T=0.005
The Danish reference pan genome	Danish	Study-wide	40	C=0.88	T=0.12
SGDP_PRJ	Global	Study-wide	6	C=0.5	T=0.5

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 7	NC_000007.14:g.30912043C>A
GRCh38.p14 chr 7	NC_000007.14:g.30912043C>T
GRCh37.p13 chr 7	NC_000007.13:g.30951658C>A
GRCh37.p13 chr 7	NC_000007.13:g.30951658C>T
Colton blood group RefSeqGene (LRG_808)	NG_007475.2:g.63650C>A
Colton blood group RefSeqGene (LRG_808)	NG_007475.2:g.63650C>T

Gene: AQP1, aquaporin 1 (Colton blood group) (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
AQP1 transcript variant 5	NM_001329872.2:c.134C>A	A [GCG] > E [GAG]	Coding Sequence Variant
aquaporin-1 isoform 5	NP_001316801.1:p.Ala45Glu	A (Ala) > E (Glu)	Missense Variant
AQP1 transcript variant 5	NM_001329872.2:c.134C>T	A [GCG] > V [GTG]	Coding Sequence Variant
aquaporin-1 isoform 5	NP_001316801.1:p.Ala45Val	A (Ala) > V (Val)	Missense Variant
AQP1 transcript variant 1	NM_198098.4:c.134C>A	A [GCG] > E [GAG]	Coding Sequence Variant
aquaporin-1 isoform 1	NP_932766.1:p.Ala45Glu	A (Ala) > E (Glu)	Missense Variant
AQP1 transcript variant 1	NM_198098.4:c.134C>T	A [GCG] > V [GTG]	Coding Sequence Variant
aquaporin-1 isoform 1	NP_932766.1:p.Ala45Val	A (Ala) > V (Val)	Missense 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.

Allele: T (allele ID: 32885 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000019424.2	COLTON BLOOD GROUP POLYMORPHISM	Benign
RCV002054449.3	not provided	Benign

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	T
GRCh38.p14 chr 7	NC_000007.14:g.30912043=	NC_000007.14:g.30912043C>A	NC_000007.14:g.30912043C>T
GRCh37.p13 chr 7	NC_000007.13:g.30951658=	NC_000007.13:g.30951658C>A	NC_000007.13:g.30951658C>T
Colton blood group RefSeqGene (LRG_808)	NG_007475.2:g.63650=	NG_007475.2:g.63650C>A	NG_007475.2:g.63650C>T
AQP1 transcript variant 1	NM_198098.4:c.134=	NM_198098.4:c.134C>A	NM_198098.4:c.134C>T
AQP1 transcript variant 1	NM_198098.3:c.134=	NM_198098.3:c.134C>A	NM_198098.3:c.134C>T
AQP1 transcript variant 1	NM_198098.2:c.134=	NM_198098.2:c.134C>A	NM_198098.2:c.134C>T
AQP1 transcript variant 5	NM_001329872.2:c.134=	NM_001329872.2:c.134C>A	NM_001329872.2:c.134C>T
AQP1 transcript variant 5	NM_001329872.1:c.134=	NM_001329872.1:c.134C>A	NM_001329872.1:c.134C>T
AQP1 transcript variant 2	NM_000385.3:c.134=	NM_000385.3:c.134C>A	NM_000385.3:c.134C>T
AQP1 transcript	NM_000385.2:c.134=	NM_000385.2:c.134C>A	NM_000385.2:c.134C>T
AQP1 transcript	NM_000385.1:c.134=	NM_000385.1:c.134C>A	NM_000385.1:c.134C>T
aquaporin-1 isoform 1	NP_932766.1:p.Ala45=	NP_932766.1:p.Ala45Glu	NP_932766.1:p.Ala45Val
aquaporin-1 isoform 5	NP_001316801.1:p.Ala45=	NP_001316801.1:p.Ala45Glu	NP_001316801.1:p.Ala45Val
AQP1 transcript variant X2	XM_005249748.1:c.82-41=	XM_005249748.1:c.82-41C>A	XM_005249748.1:c.82-41C>T
AQP1 transcript variant X3	XM_005249749.1:c.78+56=	XM_005249749.1:c.78+56C>A	XM_005249749.1:c.78+56C>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#.

103 SubSNP, 26 Frequency, 2 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	PGA-UW-FHCRC	ss35077918	May 24, 2005 (125)
2	APPLERA_GI	ss48405234	Mar 13, 2006 (126)
3	PERLEGEN	ss69011373	May 17, 2007 (127)
4	KRIBB_YJKIM	ss80743649	Dec 15, 2007 (130)
5	BCMHGSC_JDW	ss93653638	Mar 24, 2008 (129)
6	ENSEMBL	ss142805863	Dec 01, 2009 (131)
7	ILLUMINA	ss160585628	Dec 01, 2009 (131)
8	COMPLETE_GENOMICS	ss166364927	Jul 04, 2010 (132)
9	ILLUMINA	ss173486333	Jul 04, 2010 (132)
10	1000GENOMES	ss233912320	Jul 15, 2010 (132)
11	OMICIA	ss244238597	May 27, 2010 (132)
12	ILLUMINA	ss244292238	Jul 04, 2010 (132)
13	OMIM-CURATED-RECORDS	ss256302219	Aug 26, 2010 (132)
14	NHLBI-ESP	ss342233068	May 09, 2011 (134)
15	ILLUMINA	ss480683964	May 04, 2012 (137)
16	ILLUMINA	ss480699488	May 04, 2012 (137)
17	ILLUMINA	ss481556768	Sep 08, 2015 (146)
18	ILLUMINA	ss484002898	May 04, 2012 (137)
19	ILLUMINA	ss485136818	May 04, 2012 (137)
20	ILLUMINA	ss485418980	May 04, 2012 (137)
21	1000GENOMES	ss490943392	May 04, 2012 (137)
22	EXOME_CHIP	ss491397990	May 04, 2012 (137)
23	CLINSEQ_SNP	ss491904249	May 04, 2012 (137)
24	SSMP	ss654257617	Apr 25, 2013 (138)
25	ILLUMINA	ss782445791	Sep 08, 2015 (146)
26	ILLUMINA	ss783014716	Sep 08, 2015 (146)
27	ILLUMINA	ss783542851	Sep 08, 2015 (146)
28	ILLUMINA	ss832272143	Sep 08, 2015 (146)
29	EVA-GONL	ss984110635	Aug 21, 2014 (142)
30	1000GENOMES	ss1324514712	Aug 21, 2014 (142)
31	EVA_GENOME_DK	ss1582134602	Apr 01, 2015 (144)
32	EVA_FINRISK	ss1584051782	Apr 01, 2015 (144)
33	EVA_DECODE	ss1593681624	Apr 01, 2015 (144)
34	EVA_UK10K_ALSPAC	ss1617886162	Apr 01, 2015 (144)
35	EVA_UK10K_TWINSUK	ss1660880195	Apr 01, 2015 (144)
36	EVA_EXAC	ss1688691125	Apr 01, 2015 (144)
37	EVA_MGP	ss1711159032	Apr 01, 2015 (144)
38	ILLUMINA	ss1752682082	Sep 08, 2015 (146)
39	ILLUMINA	ss1752682083	Sep 08, 2015 (146)
40	ILLUMINA	ss1917815976	Feb 12, 2016 (147)
41	WEILL_CORNELL_DGM	ss1927353810	Feb 12, 2016 (147)
42	ILLUMINA	ss1946205543	Feb 12, 2016 (147)
43	ILLUMINA	ss1959000412	Feb 12, 2016 (147)
44	JJLAB	ss2024356247	Sep 14, 2016 (149)
45	HUMAN_LONGEVITY	ss2292870686	Dec 20, 2016 (150)
46	ILLUMINA	ss2634587624	Nov 08, 2017 (151)
47	GNOMAD	ss2736364851	Nov 08, 2017 (151)
48	GNOMAD	ss2747799718	Nov 08, 2017 (151)
49	GNOMAD	ss2851406934	Nov 08, 2017 (151)
50	AFFY	ss2985403419	Nov 08, 2017 (151)
51	SWEGEN	ss3000863641	Nov 08, 2017 (151)
52	ILLUMINA	ss3022722389	Nov 08, 2017 (151)
53	BIOINF_KMB_FNS_UNIBA	ss3025972288	Nov 08, 2017 (151)
54	CSHL	ss3347508480	Nov 08, 2017 (151)
55	ILLUMINA	ss3633458291	Oct 12, 2018 (152)
56	ILLUMINA	ss3634182969	Oct 12, 2018 (152)
57	ILLUMINA	ss3635115095	Oct 12, 2018 (152)
58	ILLUMINA	ss3635115096	Oct 12, 2018 (152)
59	ILLUMINA	ss3635862904	Oct 12, 2018 (152)
60	ILLUMINA	ss3636846584	Oct 12, 2018 (152)
61	ILLUMINA	ss3637615853	Oct 12, 2018 (152)
62	ILLUMINA	ss3638689214	Oct 12, 2018 (152)
63	ILLUMINA	ss3640822391	Oct 12, 2018 (152)
64	ILLUMINA	ss3640822392	Oct 12, 2018 (152)
65	ILLUMINA	ss3644938650	Oct 12, 2018 (152)
66	ILLUMINA	ss3653252245	Oct 12, 2018 (152)
67	ILLUMINA	ss3654164085	Oct 12, 2018 (152)
68	EGCUT_WGS	ss3668792824	Jul 13, 2019 (153)
69	EVA_DECODE	ss3719388796	Jul 13, 2019 (153)
70	ACPOP	ss3734489850	Jul 13, 2019 (153)
71	ILLUMINA	ss3744566744	Jul 13, 2019 (153)
72	ILLUMINA	ss3745415052	Jul 13, 2019 (153)
73	ILLUMINA	ss3745415053	Jul 13, 2019 (153)
74	PAGE_CC	ss3771361420	Jul 13, 2019 (153)
75	ILLUMINA	ss3772908143	Jul 13, 2019 (153)
76	ILLUMINA	ss3772908144	Jul 13, 2019 (153)
77	EVA	ss3824266026	Apr 26, 2020 (154)
78	EVA	ss3825717433	Apr 26, 2020 (154)
79	EVA	ss3830492283	Apr 26, 2020 (154)
80	SGDP_PRJ	ss3866942715	Apr 26, 2020 (154)
81	KRGDB	ss3913987943	Apr 26, 2020 (154)
82	KOGIC	ss3961162376	Apr 26, 2020 (154)
83	FSA-LAB	ss3984363536	Apr 26, 2021 (155)
84	EVA	ss3984585933	Apr 26, 2021 (155)
85	EVA	ss3986377941	Apr 26, 2021 (155)
86	TOPMED	ss4740656239	Apr 26, 2021 (155)
87	TOPMED	ss4740656240	Apr 26, 2021 (155)
88	TOMMO_GENOMICS	ss5182459519	Apr 26, 2021 (155)
89	EVA	ss5237648803	Oct 14, 2022 (156)
90	1000G_HIGH_COVERAGE	ss5272339778	Oct 14, 2022 (156)
91	EVA	ss5372580417	Oct 14, 2022 (156)
92	HUGCELL_USP	ss5469574782	Oct 14, 2022 (156)
93	1000G_HIGH_COVERAGE	ss5560237443	Oct 14, 2022 (156)
94	SANFORD_IMAGENETICS	ss5624659118	Oct 14, 2022 (156)
95	SANFORD_IMAGENETICS	ss5642639338	Oct 14, 2022 (156)
96	TOMMO_GENOMICS	ss5722096690	Oct 14, 2022 (156)
97	EVA	ss5799720514	Oct 14, 2022 (156)
98	EVA	ss5822609378	Oct 14, 2022 (156)
99	EVA	ss5848133449	Oct 14, 2022 (156)
100	EVA	ss5848679609	Oct 14, 2022 (156)
101	EVA	ss5858294598	Oct 14, 2022 (156)
102	EVA	ss5971845395	Oct 14, 2022 (156)
103	EVA	ss5979821766	Oct 14, 2022 (156)
104	1000Genomes	NC_000007.13 - 30951658	Oct 12, 2018 (152)
105	1000Genomes_30x	NC_000007.14 - 30912043	Oct 14, 2022 (156)
106	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 30951658	Oct 12, 2018 (152)
107	Genetic variation in the Estonian population	NC_000007.13 - 30951658	Oct 12, 2018 (152)
108	ExAC	NC_000007.13 - 30951658	Oct 12, 2018 (152)
109	FINRISK	NC_000007.13 - 30951658	Apr 26, 2020 (154)
110	The Danish reference pan genome	NC_000007.13 - 30951658	Apr 26, 2020 (154)
111	gnomAD - Genomes Submission ignored due to conflicting rows: Row 257093419 (NC_000007.14:30912042:C:A 1/140248) Row 257093420 (NC_000007.14:30912042:C:T 3922/140242)	-	Apr 26, 2021 (155)
112	gnomAD - Genomes Submission ignored due to conflicting rows: Row 257093419 (NC_000007.14:30912042:C:A 1/140248) Row 257093420 (NC_000007.14:30912042:C:T 3922/140242)	-	Apr 26, 2021 (155)
113	gnomAD - Exomes Submission ignored due to conflicting rows: Row 5524957 (NC_000007.13:30951657:C:C 251043/251044, NC_000007.13:30951657:C:A 1/251044) Row 5524958 (NC_000007.13:30951657:C:C 244515/251044, NC_000007.13:30951657:C:T 6529/251044)	-	Jul 13, 2019 (153)
114	gnomAD - Exomes Submission ignored due to conflicting rows: Row 5524957 (NC_000007.13:30951657:C:C 251043/251044, NC_000007.13:30951657:C:A 1/251044) Row 5524958 (NC_000007.13:30951657:C:C 244515/251044, NC_000007.13:30951657:C:T 6529/251044)	-	Jul 13, 2019 (153)
115	Genome of the Netherlands Release 5	NC_000007.13 - 30951658	Apr 26, 2020 (154)
116	KOREAN population from KRGDB	NC_000007.13 - 30951658	Apr 26, 2020 (154)
117	Korean Genome Project	NC_000007.14 - 30912043	Apr 26, 2020 (154)
118	Medical Genome Project healthy controls from Spanish population	NC_000007.13 - 30951658	Apr 26, 2020 (154)
119	Northern Sweden	NC_000007.13 - 30951658	Jul 13, 2019 (153)
120	The PAGE Study	NC_000007.14 - 30912043	Jul 13, 2019 (153)
121	CNV burdens in cranial meningiomas	NC_000007.13 - 30951658	Apr 26, 2021 (155)
122	Qatari	NC_000007.13 - 30951658	Apr 26, 2020 (154)
123	SGDP_PRJ	NC_000007.13 - 30951658	Apr 26, 2020 (154)
124	8.3KJPN	NC_000007.13 - 30951658	Apr 26, 2021 (155)
125	14KJPN	NC_000007.14 - 30912043	Oct 14, 2022 (156)
126	TopMed Submission ignored due to conflicting rows: Row 578033798 (NC_000007.14:30912042:C:A 4/264690) Row 578033799 (NC_000007.14:30912042:C:T 6329/264690)	-	Apr 26, 2021 (155)
127	TopMed Submission ignored due to conflicting rows: Row 578033798 (NC_000007.14:30912042:C:A 4/264690) Row 578033799 (NC_000007.14:30912042:C:T 6329/264690)	-	Apr 26, 2021 (155)
128	UK 10K study - Twins	NC_000007.13 - 30951658	Oct 12, 2018 (152)
129	ALFA	NC_000007.14 - 30912043	Apr 26, 2021 (155)
130	ClinVar	RCV000019424.2	Oct 12, 2018 (152)
131	ClinVar	RCV002054449.3	Oct 14, 2022 (156)

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)
rs58530117	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
	NC_000007.13:30951657:C:A	NC_000007.14:30912042:C:A	(self)
2332335536, ss4740656239	NC_000007.14:30912042:C:A	NC_000007.14:30912042:C:A	(self)
ss93653638, ss166364927, ss480683964, ss485418980, ss491904249, ss1593681624	NC_000007.12:30918182:C:T	NC_000007.14:30912042:C:T	(self)
36462974, 20331261, 14531072, 8753553, 48243, 8299541, 9065186, 21165337, 274792, 7774715, 135354, 9395740, 18959695, 40428826, 20331261, ss233912320, ss342233068, ss480699488, ss481556768, ss484002898, ss485136818, ss490943392, ss491397990, ss654257617, ss782445791, ss783014716, ss783542851, ss832272143, ss984110635, ss1324514712, ss1582134602, ss1584051782, ss1617886162, ss1660880195, ss1688691125, ss1711159032, ss1752682082, ss1752682083, ss1917815976, ss1927353810, ss1946205543, ss1959000412, ss2024356247, ss2634587624, ss2736364851, ss2747799718, ss2851406934, ss2985403419, ss3000863641, ss3022722389, ss3347508480, ss3633458291, ss3634182969, ss3635115095, ss3635115096, ss3635862904, ss3636846584, ss3637615853, ss3638689214, ss3640822391, ss3640822392, ss3644938650, ss3653252245, ss3654164085, ss3668792824, ss3734489850, ss3744566744, ss3745415052, ss3745415053, ss3772908143, ss3772908144, ss3824266026, ss3825717433, ss3830492283, ss3866942715, ss3913987943, ss3984363536, ss3984585933, ss3986377941, ss5182459519, ss5372580417, ss5624659118, ss5642639338, ss5799720514, ss5822609378, ss5848133449, ss5848679609, ss5971845395, ss5979821766	NC_000007.13:30951657:C:T	NC_000007.14:30912042:C:T	(self)
RCV000019424.2, RCV002054449.3, 47763378, 17540377, 582889, 55933794, 2332335536, ss244238597, ss256302219, ss2292870686, ss3025972288, ss3719388796, ss3771361420, ss3961162376, ss4740656240, ss5237648803, ss5272339778, ss5469574782, ss5560237443, ss5722096690, ss5858294598	NC_000007.14:30912042:C:T	NC_000007.14:30912042:C:T	(self)
ss35077918, ss48405234, ss69011373, ss80743649, ss142805863, ss160585628, ss173486333, ss244292238	NT_007819.17:30941657:C:T	NC_000007.14:30912042:C:T	(self)

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

2 citations for rs28362692

PMID	Title	Author	Year	Journal
7521882	Human red cell aquaporin CHIP. I. Molecular characterization of ABH and Colton blood group antigens.	Smith BL et al.	1994	The Journal of clinical investigation
21257350	DNA-based methods in the immunohematology reference laboratory.	Reid ME et al.	2011	Transfusion and apheresis science

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

rs28362692