Name: rs5035
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.

rs5035

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:44261630 (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: T>A / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.039419 (12637/320582, ALFA)
G=0.030216 (7998/264690, TOPMED)
G=0.026954 (3776/140090, GnomAD) (+ 18 more)
G=0.02736 (2153/78700, PAGE_STUDY)
G=0.04675 (1321/28258, 14KJPN)
G=0.04726 (792/16760, 8.3KJPN)
G=0.02776 (361/13006, GO-ESP)
G=0.0311 (199/6404, 1000G_30x)
G=0.0337 (169/5008, 1000G)
G=0.0208 (93/4480, Estonian)
G=0.0423 (163/3854, ALSPAC)
G=0.0396 (147/3708, TWINSUK)
G=0.0763 (223/2922, KOREAN)
G=0.029 (29/998, GoNL)
G=0.086 (68/792, PRJEB37584)
G=0.025 (15/600, NorthernSweden)
G=0.054 (29/534, MGP)
G=0.007 (2/304, FINRISK)
G=0.079 (17/216, Qatari)
G=0.05 (2/40, GENOME_DK)
T=0.39 (15/38, SGDP_PRJ)

Clinical Significance: Reported in ClinVar
Gene : Consequence: SLC4A1 : Missense Variant
Publications: 3 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	337088	T=0.960897	G=0.039103
European	Sub	284832	T=0.960436	G=0.039564
African	Sub	13506	T=0.98904	G=0.01096
African Others	Sub	488	T=0.998	G=0.002
African American	Sub	13018	T=0.98871	G=0.01129
Asian	Sub	6894	T=0.9191	G=0.0809
East Asian	Sub	4940	T=0.9257	G=0.0743
Other Asian	Sub	1954	T=0.9023	G=0.0977
Latin American 1	Sub	1396	T=0.9670	G=0.0330
Latin American 2	Sub	6664	T=0.9793	G=0.0207
South Asian	Sub	366	T=0.973	G=0.027
Other	Sub	23430	T=0.95681	G=0.04319

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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	320582	T=0.960581	G=0.039419
Allele Frequency Aggregator	European	Sub	274616	T=0.960549	G=0.039451
Allele Frequency Aggregator	Other	Sub	21978	T=0.95632	G=0.04368
Allele Frequency Aggregator	African	Sub	8668	T=0.9895	G=0.0105
Allele Frequency Aggregator	Asian	Sub	6894	T=0.9191	G=0.0809
Allele Frequency Aggregator	Latin American 2	Sub	6664	T=0.9793	G=0.0207
Allele Frequency Aggregator	Latin American 1	Sub	1396	T=0.9670	G=0.0330
Allele Frequency Aggregator	South Asian	Sub	366	T=0.973	G=0.027
TopMed	Global	Study-wide	264690	T=0.969784	G=0.030216
gnomAD - Genomes	Global	Study-wide	140090	T=0.973046	G=0.026954
gnomAD - Genomes	European	Sub	75886	T=0.96588	G=0.03412
gnomAD - Genomes	African	Sub	41968	T=0.99102	G=0.00898
gnomAD - Genomes	American	Sub	13636	T=0.97162	G=0.02838
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	T=0.9726	G=0.0274
gnomAD - Genomes	East Asian	Sub	3126	T=0.9162	G=0.0838
gnomAD - Genomes	Other	Sub	2154	T=0.9675	G=0.0325
The PAGE Study	Global	Study-wide	78700	T=0.97264	G=0.02736
The PAGE Study	AfricanAmerican	Sub	32514	T=0.98985	G=0.01015
The PAGE Study	Mexican	Sub	10810	T=0.98150	G=0.01850
The PAGE Study	Asian	Sub	8318	T=0.9454	G=0.0546
The PAGE Study	PuertoRican	Sub	7918	T=0.9686	G=0.0314
The PAGE Study	NativeHawaiian	Sub	4534	T=0.8805	G=0.1195
The PAGE Study	Cuban	Sub	4230	T=0.9669	G=0.0331
The PAGE Study	Dominican	Sub	3828	T=0.9804	G=0.0196
The PAGE Study	CentralAmerican	Sub	2450	T=0.9849	G=0.0151
The PAGE Study	SouthAmerican	Sub	1982	T=0.9798	G=0.0202
The PAGE Study	NativeAmerican	Sub	1260	T=0.9635	G=0.0365
The PAGE Study	SouthAsian	Sub	856	T=0.953	G=0.047
14KJPN	JAPANESE	Study-wide	28258	T=0.95325	G=0.04675
8.3KJPN	JAPANESE	Study-wide	16760	T=0.95274	G=0.04726
GO Exome Sequencing Project	Global	Study-wide	13006	T=0.97224	G=0.02776
GO Exome Sequencing Project	European American	Sub	8600	T=0.9628	G=0.0372
GO Exome Sequencing Project	African American	Sub	4406	T=0.9907	G=0.0093
1000Genomes_30x	Global	Study-wide	6404	T=0.9689	G=0.0311
1000Genomes_30x	African	Sub	1786	T=0.9972	G=0.0028
1000Genomes_30x	Europe	Sub	1266	T=0.9637	G=0.0363
1000Genomes_30x	South Asian	Sub	1202	T=0.9725	G=0.0275
1000Genomes_30x	East Asian	Sub	1170	T=0.9197	G=0.0803
1000Genomes_30x	American	Sub	980	T=0.979	G=0.021
1000Genomes	Global	Study-wide	5008	T=0.9663	G=0.0337
1000Genomes	African	Sub	1322	T=0.9977	G=0.0023
1000Genomes	East Asian	Sub	1008	T=0.9187	G=0.0813
1000Genomes	Europe	Sub	1006	T=0.9612	G=0.0388
1000Genomes	South Asian	Sub	978	T=0.970	G=0.030
1000Genomes	American	Sub	694	T=0.977	G=0.023
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.9792	G=0.0208
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.9577	G=0.0423
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.9604	G=0.0396
KOREAN population from KRGDB	KOREAN	Study-wide	2922	T=0.9237	G=0.0763
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.971	G=0.029
CNV burdens in cranial meningiomas	Global	Study-wide	792	T=0.914	G=0.086
CNV burdens in cranial meningiomas	CRM	Sub	792	T=0.914	G=0.086
Northern Sweden	ACPOP	Study-wide	600	T=0.975	G=0.025
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.946	G=0.054
FINRISK	Finnish from FINRISK project	Study-wide	304	T=0.993	G=0.007
Qatari	Global	Study-wide	216	T=0.921	G=0.079
The Danish reference pan genome	Danish	Study-wide	40	T=0.95	G=0.05
SGDP_PRJ	Global	Study-wide	38	T=0.39	G=0.61

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 17	NC_000017.11:g.44261630T>A
GRCh38.p14 chr 17	NC_000017.11:g.44261630T>G
GRCh37.p13 chr 17	NC_000017.10:g.42338998T>A
GRCh37.p13 chr 17	NC_000017.10:g.42338998T>G
Diego blood group RefSeqGene (LRG_803)	NG_007498.1:g.11505A>T
Diego blood group RefSeqGene (LRG_803)	NG_007498.1:g.11505A>C

Gene: SLC4A1, solute carrier family 4 member 1 (Diego blood group) (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SLC4A1 transcript	NM_000342.4:c.113A>T	D [GAC] > V [GTC]	Coding Sequence Variant
band 3 anion transport protein	NP_000333.1:p.Asp38Val	D (Asp) > V (Val)	Missense Variant
SLC4A1 transcript	NM_000342.4:c.113A>C	D [GAC] > A [GCC]	Coding Sequence Variant
band 3 anion transport protein	NP_000333.1:p.Asp38Ala	D (Asp) > A (Ala)	Missense Variant
SLC4A1 transcript variant X3	XM_005257593.6:c.-83=	N/A	5 Prime UTR Variant
SLC4A1 transcript variant X1	XM_011525129.3:c.113A>T	D [GAC] > V [GTC]	Coding Sequence Variant
band 3 anion transport protein isoform X1	XP_011523431.1:p.Asp38Val	D (Asp) > V (Val)	Missense Variant
SLC4A1 transcript variant X1	XM_011525129.3:c.113A>C	D [GAC] > A [GCC]	Coding Sequence Variant
band 3 anion transport protein isoform X1	XP_011523431.1:p.Asp38Ala	D (Asp) > A (Ala)	Missense Variant
SLC4A1 transcript variant X2	XM_011525130.2:c.113A>T	D [GAC] > V [GTC]	Coding Sequence Variant
band 3 anion transport protein isoform X2	XP_011523432.1:p.Asp38Val	D (Asp) > V (Val)	Missense Variant
SLC4A1 transcript variant X2	XM_011525130.2:c.113A>C	D [GAC] > A [GCC]	Coding Sequence Variant
band 3 anion transport protein isoform X2	XP_011523432.1:p.Asp38Ala	D (Asp) > A (Ala)	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: G (allele ID: 256197 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000242676.4	not specified	Benign
RCV000273549.4	Hemolytic anemia	Benign
RCV000330909.4	Hereditary spherocytosis type 4	Benign
RCV000370005.4	Autosomal dominant distal renal tubular acidosis	Benign
RCV001509619.10	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	T=	A	G
GRCh38.p14 chr 17	NC_000017.11:g.44261630=	NC_000017.11:g.44261630T>A	NC_000017.11:g.44261630T>G
GRCh37.p13 chr 17	NC_000017.10:g.42338998=	NC_000017.10:g.42338998T>A	NC_000017.10:g.42338998T>G
Diego blood group RefSeqGene (LRG_803)	NG_007498.1:g.11505=	NG_007498.1:g.11505A>T	NG_007498.1:g.11505A>C
SLC4A1 transcript	NM_000342.4:c.113=	NM_000342.4:c.113A>T	NM_000342.4:c.113A>C
SLC4A1 transcript	NM_000342.3:c.113=	NM_000342.3:c.113A>T	NM_000342.3:c.113A>C
SLC4A1 transcript variant X3	XM_005257593.6:c.-83=	XM_005257593.6:c.-83A>T	XM_005257593.6:c.-83A>C
SLC4A1 transcript variant X3	XM_005257593.5:c.-83=	XM_005257593.5:c.-83A>T	XM_005257593.5:c.-83A>C
SLC4A1 transcript variant X3	XM_005257593.4:c.-83=	XM_005257593.4:c.-83A>T	XM_005257593.4:c.-83A>C
SLC4A1 transcript variant X2	XM_005257593.3:c.-83=	XM_005257593.3:c.-83A>T	XM_005257593.3:c.-83A>C
SLC4A1 transcript variant X2	XM_005257593.2:c.-83=	XM_005257593.2:c.-83A>T	XM_005257593.2:c.-83A>C
SLC4A1 transcript variant X2	XM_005257593.1:c.-83=	XM_005257593.1:c.-83A>T	XM_005257593.1:c.-83A>C
SLC4A1 transcript variant X1	XM_011525129.3:c.113=	XM_011525129.3:c.113A>T	XM_011525129.3:c.113A>C
SLC4A1 transcript variant X1	XM_011525129.2:c.113=	XM_011525129.2:c.113A>T	XM_011525129.2:c.113A>C
SLC4A1 transcript variant X1	XM_011525129.1:c.113=	XM_011525129.1:c.113A>T	XM_011525129.1:c.113A>C
SLC4A1 transcript variant X2	XM_011525130.2:c.113=	XM_011525130.2:c.113A>T	XM_011525130.2:c.113A>C
SLC4A1 transcript variant X2	XM_011525130.1:c.113=	XM_011525130.1:c.113A>T	XM_011525130.1:c.113A>C
band 3 anion transport protein	NP_000333.1:p.Asp38=	NP_000333.1:p.Asp38Val	NP_000333.1:p.Asp38Ala
band 3 anion transport protein isoform X1	XP_011523431.1:p.Asp38=	XP_011523431.1:p.Asp38Val	XP_011523431.1:p.Asp38Ala
band 3 anion transport protein isoform X2	XP_011523432.1:p.Asp38=	XP_011523432.1:p.Asp38Val	XP_011523432.1:p.Asp38Ala

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#.

128 SubSNP, 25 Frequency, 5 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	ARAVINDA	ss6476	Sep 19, 2000 (52)
2	IMCJ-GDT	ss22887997	Apr 05, 2004 (123)
3	APPLERA_GI	ss48416566	Mar 13, 2006 (126)
4	PGA-UW-FHCRC	ss70353422	May 18, 2007 (127)
5	AFFY	ss74814834	Aug 16, 2007 (128)
6	ILLUMINA	ss74876443	Dec 06, 2007 (129)
7	AFFY	ss76581515	Dec 06, 2007 (129)
8	SI_EXO	ss76889535	Dec 06, 2007 (129)
9	KRIBB_YJKIM	ss119337511	Dec 01, 2009 (131)
10	ILLUMINA	ss160737503	Dec 01, 2009 (131)
11	ILLUMINA	ss173907828	Jul 04, 2010 (132)
12	1000GENOMES	ss237246901	Jul 15, 2010 (132)
13	ILLUMINA	ss244302751	Jul 04, 2010 (132)
14	NHLBI-ESP	ss342456022	May 09, 2011 (134)
15	ILLUMINA	ss410938375	Sep 17, 2011 (135)
16	ILLUMINA	ss481130590	May 04, 2012 (137)
17	ILLUMINA	ss481152615	May 04, 2012 (137)
18	ILLUMINA	ss482142169	Sep 08, 2015 (146)
19	ILLUMINA	ss485360321	May 04, 2012 (137)
20	1000GENOMES	ss491125105	May 04, 2012 (137)
21	EXOME_CHIP	ss491523361	May 04, 2012 (137)
22	CLINSEQ_SNP	ss491737790	May 04, 2012 (137)
23	ILLUMINA	ss537304802	Sep 08, 2015 (146)
24	TISHKOFF	ss565280126	Apr 25, 2013 (138)
25	SSMP	ss661082801	Apr 25, 2013 (138)
26	ILLUMINA	ss778556185	Sep 08, 2015 (146)
27	ILLUMINA	ss780729124	Sep 08, 2015 (146)
28	ILLUMINA	ss783125849	Sep 08, 2015 (146)
29	ILLUMINA	ss783405392	Sep 08, 2015 (146)
30	ILLUMINA	ss784082469	Sep 08, 2015 (146)
31	ILLUMINA	ss832384687	Sep 08, 2015 (146)
32	ILLUMINA	ss834012985	Sep 08, 2015 (146)
33	EVA-GONL	ss993119057	Aug 21, 2014 (142)
34	JMKIDD_LAB	ss1067572040	Aug 21, 2014 (142)
35	JMKIDD_LAB	ss1081066188	Aug 21, 2014 (142)
36	1000GENOMES	ss1358702569	Aug 21, 2014 (142)
37	DDI	ss1428036757	Apr 01, 2015 (144)
38	EVA_GENOME_DK	ss1578161312	Apr 01, 2015 (144)
39	EVA_FINRISK	ss1584106653	Apr 01, 2015 (144)
40	EVA_UK10K_ALSPAC	ss1635675901	Apr 01, 2015 (144)
41	EVA_UK10K_TWINSUK	ss1678669934	Apr 01, 2015 (144)
42	EVA_EXAC	ss1692812270	Apr 01, 2015 (144)
43	EVA_EXAC	ss1692812271	Apr 01, 2015 (144)
44	EVA_DECODE	ss1697162433	Apr 01, 2015 (144)
45	EVA_MGP	ss1711462637	Apr 01, 2015 (144)
46	EVA_SVP	ss1713583305	Apr 01, 2015 (144)
47	ILLUMINA	ss1752226745	Sep 08, 2015 (146)
48	ILLUMINA	ss1752226746	Sep 08, 2015 (146)
49	ILLUMINA	ss1917919119	Feb 12, 2016 (147)
50	WEILL_CORNELL_DGM	ss1936579534	Feb 12, 2016 (147)
51	ILLUMINA	ss1946450598	Feb 12, 2016 (147)
52	ILLUMINA	ss1959748638	Feb 12, 2016 (147)
53	ACHAKRAVARTILAB	ss1998377549	Jul 19, 2016 (147)
54	JJLAB	ss2029066408	Sep 14, 2016 (149)
55	HUMAN_LONGEVITY	ss2216938072	Dec 20, 2016 (150)
56	SYSTEMSBIOZJU	ss2629029242	Nov 08, 2017 (151)
57	ILLUMINA	ss2633398213	Nov 08, 2017 (151)
58	GRF	ss2702100449	Nov 08, 2017 (151)
59	ILLUMINA	ss2710849337	Nov 08, 2017 (151)
60	GNOMAD	ss2742768996	Nov 08, 2017 (151)
61	GNOMAD	ss2749789936	Nov 08, 2017 (151)
62	GNOMAD	ss2950011348	Nov 08, 2017 (151)
63	AFFY	ss2985097188	Nov 08, 2017 (151)
64	SWEGEN	ss3015554479	Nov 08, 2017 (151)
65	ILLUMINA	ss3021782072	Nov 08, 2017 (151)
66	BIOINF_KMB_FNS_UNIBA	ss3028353491	Nov 08, 2017 (151)
67	CSHL	ss3351751533	Nov 08, 2017 (151)
68	ILLUMINA	ss3627672795	Oct 12, 2018 (152)
69	ILLUMINA	ss3627672796	Oct 12, 2018 (152)
70	ILLUMINA	ss3631379215	Oct 12, 2018 (152)
71	ILLUMINA	ss3633141917	Oct 12, 2018 (152)
72	ILLUMINA	ss3633849475	Oct 12, 2018 (152)
73	ILLUMINA	ss3634676190	Oct 12, 2018 (152)
74	ILLUMINA	ss3634676191	Oct 12, 2018 (152)
75	ILLUMINA	ss3635537223	Oct 12, 2018 (152)
76	ILLUMINA	ss3636365808	Oct 12, 2018 (152)
77	ILLUMINA	ss3637288773	Oct 12, 2018 (152)
78	ILLUMINA	ss3638162328	Oct 12, 2018 (152)
79	ILLUMINA	ss3640383502	Oct 12, 2018 (152)
80	ILLUMINA	ss3640383503	Oct 12, 2018 (152)
81	ILLUMINA	ss3643140674	Oct 12, 2018 (152)
82	ILLUMINA	ss3644689007	Oct 12, 2018 (152)
83	ILLUMINA	ss3652198851	Oct 12, 2018 (152)
84	ILLUMINA	ss3653868502	Oct 12, 2018 (152)
85	EGCUT_WGS	ss3682440313	Jul 13, 2019 (153)
86	EVA_DECODE	ss3700489799	Jul 13, 2019 (153)
87	ILLUMINA	ss3725623479	Jul 13, 2019 (153)
88	ACPOP	ss3742035398	Jul 13, 2019 (153)
89	ILLUMINA	ss3744444465	Jul 13, 2019 (153)
90	ILLUMINA	ss3744976484	Jul 13, 2019 (153)
91	ILLUMINA	ss3744976485	Jul 13, 2019 (153)
92	EVA	ss3754680783	Jul 13, 2019 (153)
93	PAGE_CC	ss3771929208	Jul 13, 2019 (153)
94	ILLUMINA	ss3772474355	Jul 13, 2019 (153)
95	ILLUMINA	ss3772474356	Jul 13, 2019 (153)
96	KHV_HUMAN_GENOMES	ss3819949949	Jul 13, 2019 (153)
97	EVA	ss3825120849	Apr 27, 2020 (154)
98	EVA	ss3825900634	Apr 27, 2020 (154)
99	EVA	ss3834873127	Apr 27, 2020 (154)
100	SGDP_PRJ	ss3885773370	Apr 27, 2020 (154)
101	KRGDB	ss3935466541	Apr 27, 2020 (154)
102	FSA-LAB	ss3984116666	Apr 27, 2021 (155)
103	EVA	ss3984723403	Apr 27, 2021 (155)
104	EVA	ss3986074715	Apr 27, 2021 (155)
105	EVA	ss3986729540	Apr 27, 2021 (155)
106	TOPMED	ss5036410249	Apr 27, 2021 (155)
107	TOMMO_GENOMICS	ss5222473759	Apr 27, 2021 (155)
108	EVA	ss5236943575	Apr 27, 2021 (155)
109	EVA	ss5237575739	Apr 27, 2021 (155)
110	EVA	ss5237669129	Oct 16, 2022 (156)
111	1000G_HIGH_COVERAGE	ss5303175959	Oct 16, 2022 (156)
112	TRAN_CS_UWATERLOO	ss5314448290	Oct 16, 2022 (156)
113	EVA	ss5315887405	Oct 16, 2022 (156)
114	EVA	ss5427672034	Oct 16, 2022 (156)
115	HUGCELL_USP	ss5496227003	Oct 16, 2022 (156)
116	1000G_HIGH_COVERAGE	ss5606916340	Oct 16, 2022 (156)
117	SANFORD_IMAGENETICS	ss5624397475	Oct 16, 2022 (156)
118	SANFORD_IMAGENETICS	ss5660126593	Oct 16, 2022 (156)
119	TOMMO_GENOMICS	ss5778704152	Oct 16, 2022 (156)
120	YY_MCH	ss5816552525	Oct 16, 2022 (156)
121	EVA	ss5833999861	Oct 16, 2022 (156)
122	EVA	ss5847798564	Oct 16, 2022 (156)
123	EVA	ss5848450613	Oct 16, 2022 (156)
124	EVA	ss5851812859	Oct 16, 2022 (156)
125	EVA	ss5914005660	Oct 16, 2022 (156)
126	EVA	ss5951519603	Oct 16, 2022 (156)
127	EVA	ss5979507684	Oct 16, 2022 (156)
128	EVA	ss5981301778	Oct 16, 2022 (156)
129	1000Genomes	NC_000017.10 - 42338998	Oct 12, 2018 (152)
130	1000Genomes_30x	NC_000017.11 - 44261630	Oct 16, 2022 (156)
131	The Avon Longitudinal Study of Parents and Children	NC_000017.10 - 42338998	Oct 12, 2018 (152)
132	Genetic variation in the Estonian population	NC_000017.10 - 42338998	Oct 12, 2018 (152)
133	ExAC Submission ignored due to conflicting rows: Row 3258195 (NC_000017.10:42338997:T:T 117194/121382, NC_000017.10:42338997:T:G 4188/121382) Row 3258196 (NC_000017.10:42338997:T:T 121381/121382, NC_000017.10:42338997:T:A 1/121382)	-	Oct 12, 2018 (152)
134	ExAC Submission ignored due to conflicting rows: Row 3258195 (NC_000017.10:42338997:T:T 117194/121382, NC_000017.10:42338997:T:G 4188/121382) Row 3258196 (NC_000017.10:42338997:T:T 121381/121382, NC_000017.10:42338997:T:A 1/121382)	-	Oct 12, 2018 (152)
135	FINRISK	NC_000017.10 - 42338998	Apr 27, 2020 (154)
136	The Danish reference pan genome	NC_000017.10 - 42338998	Apr 27, 2020 (154)
137	gnomAD - Genomes	NC_000017.11 - 44261630	Apr 27, 2021 (155)
138	gnomAD - Exomes Submission ignored due to conflicting rows: Row 12074236 (NC_000017.10:42338997:T:T 251433/251436, NC_000017.10:42338997:T:A 3/251436) Row 12074237 (NC_000017.10:42338997:T:T 242919/251436, NC_000017.10:42338997:T:G 8517/251436)	-	Jul 13, 2019 (153)
139	gnomAD - Exomes Submission ignored due to conflicting rows: Row 12074236 (NC_000017.10:42338997:T:T 251433/251436, NC_000017.10:42338997:T:A 3/251436) Row 12074237 (NC_000017.10:42338997:T:T 242919/251436, NC_000017.10:42338997:T:G 8517/251436)	-	Jul 13, 2019 (153)
140	GO Exome Sequencing Project	NC_000017.10 - 42338998	Oct 12, 2018 (152)
141	Genome of the Netherlands Release 5	NC_000017.10 - 42338998	Apr 27, 2020 (154)
142	KOREAN population from KRGDB	NC_000017.10 - 42338998	Apr 27, 2020 (154)
143	Medical Genome Project healthy controls from Spanish population	NC_000017.10 - 42338998	Apr 27, 2020 (154)
144	Northern Sweden	NC_000017.10 - 42338998	Jul 13, 2019 (153)
145	The PAGE Study	NC_000017.11 - 44261630	Jul 13, 2019 (153)
146	CNV burdens in cranial meningiomas	NC_000017.10 - 42338998	Apr 27, 2021 (155)
147	Qatari	NC_000017.10 - 42338998	Apr 27, 2020 (154)
148	SGDP_PRJ	NC_000017.10 - 42338998	Apr 27, 2020 (154)
149	8.3KJPN	NC_000017.10 - 42338998	Apr 27, 2021 (155)
150	14KJPN	NC_000017.11 - 44261630	Oct 16, 2022 (156)
151	TopMed	NC_000017.11 - 44261630	Apr 27, 2021 (155)
152	UK 10K study - Twins	NC_000017.10 - 42338998	Oct 12, 2018 (152)
153	ALFA	NC_000017.11 - 44261630	Apr 27, 2021 (155)
154	ClinVar	RCV000242676.4	Oct 16, 2022 (156)
155	ClinVar	RCV000273549.4	Oct 16, 2022 (156)
156	ClinVar	RCV000330909.4	Oct 16, 2022 (156)
157	ClinVar	RCV000370005.4	Oct 16, 2022 (156)
158	ClinVar	RCV001509619.10	Oct 16, 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)
rs13306785	Sep 24, 2004 (123)
rs52797091	Sep 21, 2007 (128)
rs386597426	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss1692812271, ss2742768996	NC_000017.10:42338997:T:A	NC_000017.11:44261629:T:A	(self)
ss481130590, ss491737790, ss1697162433, ss1713583305, ss3643140674	NC_000017.9:39694523:T:G	NC_000017.11:44261629:T:G	(self)
71946097, 39874303, 28178561, 103114, 4363544, 1577929, 17770510, 42643935, 578397, 15320263, 272950, 18621456, 37790350, 80443066, 39874303, ss237246901, ss342456022, ss481152615, ss482142169, ss485360321, ss491125105, ss491523361, ss537304802, ss565280126, ss661082801, ss778556185, ss780729124, ss783125849, ss783405392, ss784082469, ss832384687, ss834012985, ss993119057, ss1067572040, ss1081066188, ss1358702569, ss1428036757, ss1578161312, ss1584106653, ss1635675901, ss1678669934, ss1692812270, ss1711462637, ss1752226745, ss1752226746, ss1917919119, ss1936579534, ss1946450598, ss1959748638, ss1998377549, ss2029066408, ss2629029242, ss2633398213, ss2702100449, ss2710849337, ss2742768996, ss2749789936, ss2950011348, ss2985097188, ss3015554479, ss3021782072, ss3351751533, ss3627672795, ss3627672796, ss3631379215, ss3633141917, ss3633849475, ss3634676190, ss3634676191, ss3635537223, ss3636365808, ss3637288773, ss3638162328, ss3640383502, ss3640383503, ss3644689007, ss3652198851, ss3653868502, ss3682440313, ss3742035398, ss3744444465, ss3744976484, ss3744976485, ss3754680783, ss3772474355, ss3772474356, ss3825120849, ss3825900634, ss3834873127, ss3885773370, ss3935466541, ss3984116666, ss3984723403, ss3986074715, ss3986729540, ss5222473759, ss5237575739, ss5315887405, ss5427672034, ss5624397475, ss5660126593, ss5833999861, ss5847798564, ss5848450613, ss5951519603, ss5979507684, ss5981301778	NC_000017.10:42338997:T:G	NC_000017.11:44261629:T:G	(self)
RCV000242676.4, RCV000273549.4, RCV000330909.4, RCV000370005.4, RCV001509619.10, 94442275, 507607196, 1150677, 112541256, 251955911, 10367559033, ss2216938072, ss3028353491, ss3700489799, ss3725623479, ss3771929208, ss3819949949, ss5036410249, ss5236943575, ss5237669129, ss5303175959, ss5314448290, ss5496227003, ss5606916340, ss5778704152, ss5816552525, ss5851812859, ss5914005660	NC_000017.11:44261629:T:G	NC_000017.11:44261629:T:G	(self)
ss76889535	NT_010783.14:992802:T:G	NC_000017.11:44261629:T:G	(self)
ss6476, ss22887997, ss48416566, ss70353422, ss74814834, ss74876443, ss76581515, ss119337511, ss160737503, ss173907828, ss244302751, ss410938375	NT_010783.15:7613149:T:G	NC_000017.11:44261629:T:G	(self)

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

3 citations for rs5035

PMID	Title	Author	Year	Journal
25741868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S et al.	2015	Genetics in medicine
27767102	A single nucleotide polymorphism in kidney anion exchanger 1 gene is associated with incomplete type 1 renal tubular acidosis.	Takeuchi T et al.	2016	Scientific reports
31134135	Pleiotropic Meta-Analysis of Age-Related Phenotypes Addressing Evolutionary Uncertainty in Their Molecular Mechanisms.	Kulminski AM et al.	2019	Frontiers in genetics

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

rs5035