Name: rs5036
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.

rs5036

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:44261577 (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>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.029842 (9246/309836, ALFA)
C=0.058211 (15408/264690, TOPMED)
C=0.044606 (11216/251446, GnomAD_exome) (+ 22 more)
C=0.050016 (7010/140156, GnomAD)
C=0.042433 (5151/121392, ExAC)
C=0.09698 (7632/78696, PAGE_STUDY)
C=0.18384 (5195/28258, 14KJPN)
C=0.17876 (2996/16760, 8.3KJPN)
C=0.0654 (419/6404, 1000G_30x)
C=0.0639 (320/5008, 1000G)
C=0.0181 (81/4480, Estonian)
C=0.0218 (84/3854, ALSPAC)
C=0.0175 (65/3708, TWINSUK)
C=0.1147 (336/2930, KOREAN)
C=0.1059 (194/1832, Korea1K)
C=0.016 (16/998, GoNL)
C=0.082 (65/790, PRJEB37584)
C=0.012 (7/600, NorthernSweden)
C=0.022 (12/534, MGP)
C=0.003 (1/304, FINRISK)
C=0.060 (13/216, Qatari)
T=0.48 (44/92, SGDP_PRJ)
C=0.03 (1/40, GENOME_DK)
T=0.5 (2/4, Siberian)
C=0.5 (2/4, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: SLC4A1 : Missense Variant
Publications: 9 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	326342	T=0.969339	C=0.030661	0.940259	0.001581	0.05816	32
European	Sub	275306	T=0.977026	C=0.022974	0.95469	0.000639	0.04467	2
African	Sub	15636	T=0.90298	C=0.09702	0.815938	0.009977	0.174085	0
African Others	Sub	544	T=0.893	C=0.107	0.801471	0.014706	0.183824	0
African American	Sub	15092	T=0.90333	C=0.09667	0.816459	0.009807	0.173734	0
Asian	Sub	6728	T=0.9038	C=0.0962	0.81629	0.008621	0.175089	0
East Asian	Sub	4838	T=0.9008	C=0.0992	0.810666	0.009095	0.18024	0
Other Asian	Sub	1890	T=0.9116	C=0.0884	0.830688	0.007407	0.161905	0
Latin American 1	Sub	1250	T=0.9512	C=0.0488	0.904	0.0016	0.0944	0
Latin American 2	Sub	5332	T=0.8839	C=0.1161	0.778695	0.010878	0.210428	1
South Asian	Sub	344	T=0.965	C=0.035	0.930233	0.0	0.069767	0
Other	Sub	21746	T=0.96206	C=0.03794	0.927159	0.003035	0.069806	12

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	309836	T=0.970158	C=0.029842
Allele Frequency Aggregator	European	Sub	265090	T=0.977046	C=0.022954
Allele Frequency Aggregator	Other	Sub	20294	T=0.96191	C=0.03809
Allele Frequency Aggregator	African	Sub	10798	T=0.90285	C=0.09715
Allele Frequency Aggregator	Asian	Sub	6728	T=0.9038	C=0.0962
Allele Frequency Aggregator	Latin American 2	Sub	5332	T=0.8839	C=0.1161
Allele Frequency Aggregator	Latin American 1	Sub	1250	T=0.9512	C=0.0488
Allele Frequency Aggregator	South Asian	Sub	344	T=0.965	C=0.035
TopMed	Global	Study-wide	264690	T=0.941789	C=0.058211
gnomAD - Exomes	Global	Study-wide	251446	T=0.955394	C=0.044606
gnomAD - Exomes	European	Sub	135372	T=0.981333	C=0.018667
gnomAD - Exomes	Asian	Sub	49010	T=0.95621	C=0.04379
gnomAD - Exomes	American	Sub	34592	T=0.87647	C=0.12353
gnomAD - Exomes	African	Sub	16254	T=0.89910	C=0.10090
gnomAD - Exomes	Ashkenazi Jewish	Sub	10080	T=0.95942	C=0.04058
gnomAD - Exomes	Other	Sub	6138	T=0.9640	C=0.0360
gnomAD - Genomes	Global	Study-wide	140156	T=0.949984	C=0.050016
gnomAD - Genomes	European	Sub	75926	T=0.97939	C=0.02061
gnomAD - Genomes	African	Sub	41988	T=0.90111	C=0.09889
gnomAD - Genomes	American	Sub	13636	T=0.93862	C=0.06138
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.9615	C=0.0385
gnomAD - Genomes	East Asian	Sub	3130	T=0.9278	C=0.0722
gnomAD - Genomes	Other	Sub	2154	T=0.9526	C=0.0474
ExAC	Global	Study-wide	121392	T=0.957567	C=0.042433
ExAC	Europe	Sub	73346	T=0.98014	C=0.01986
ExAC	Asian	Sub	25156	T=0.95611	C=0.04389
ExAC	American	Sub	11576	T=0.86731	C=0.13269
ExAC	African	Sub	10406	T=0.90102	C=0.09898
ExAC	Other	Sub	908	T=0.974	C=0.026
The PAGE Study	Global	Study-wide	78696	T=0.90302	C=0.09698
The PAGE Study	AfricanAmerican	Sub	32516	T=0.90617	C=0.09383
The PAGE Study	Mexican	Sub	10810	T=0.88085	C=0.11915
The PAGE Study	Asian	Sub	8318	T=0.8530	C=0.1470
The PAGE Study	PuertoRican	Sub	7918	T=0.9494	C=0.0506
The PAGE Study	NativeHawaiian	Sub	4530	T=0.8675	C=0.1325
The PAGE Study	Cuban	Sub	4228	T=0.9491	C=0.0509
The PAGE Study	Dominican	Sub	3828	T=0.9303	C=0.0697
The PAGE Study	CentralAmerican	Sub	2450	T=0.9020	C=0.0980
The PAGE Study	SouthAmerican	Sub	1982	T=0.8678	C=0.1322
The PAGE Study	NativeAmerican	Sub	1260	T=0.9468	C=0.0532
The PAGE Study	SouthAsian	Sub	856	T=0.979	C=0.021
14KJPN	JAPANESE	Study-wide	28258	T=0.81616	C=0.18384
8.3KJPN	JAPANESE	Study-wide	16760	T=0.82124	C=0.17876
1000Genomes_30x	Global	Study-wide	6404	T=0.9346	C=0.0654
1000Genomes_30x	African	Sub	1786	T=0.9054	C=0.0946
1000Genomes_30x	Europe	Sub	1266	T=0.9803	C=0.0197
1000Genomes_30x	South Asian	Sub	1202	T=0.9700	C=0.0300
1000Genomes_30x	East Asian	Sub	1170	T=0.9239	C=0.0761
1000Genomes_30x	American	Sub	980	T=0.898	C=0.102
1000Genomes	Global	Study-wide	5008	T=0.9361	C=0.0639
1000Genomes	African	Sub	1322	T=0.9047	C=0.0953
1000Genomes	East Asian	Sub	1008	T=0.9196	C=0.0804
1000Genomes	Europe	Sub	1006	T=0.9801	C=0.0199
1000Genomes	South Asian	Sub	978	T=0.973	C=0.027
1000Genomes	American	Sub	694	T=0.903	C=0.097
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.9819	C=0.0181
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.9782	C=0.0218
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.9825	C=0.0175
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.8853	C=0.1147
Korean Genome Project	KOREAN	Study-wide	1832	T=0.8941	C=0.1059
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.984	C=0.016
CNV burdens in cranial meningiomas	Global	Study-wide	790	T=0.918	C=0.082
CNV burdens in cranial meningiomas	CRM	Sub	790	T=0.918	C=0.082
Northern Sweden	ACPOP	Study-wide	600	T=0.988	C=0.012
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.978	C=0.022
FINRISK	Finnish from FINRISK project	Study-wide	304	T=0.997	C=0.003
Qatari	Global	Study-wide	216	T=0.940	C=0.060
SGDP_PRJ	Global	Study-wide	92	T=0.48	C=0.52
The Danish reference pan genome	Danish	Study-wide	40	T=0.97	C=0.03
Siberian	Global	Study-wide	4	T=0.5	C=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 17	NC_000017.11:g.44261577T>C
GRCh37.p13 chr 17	NC_000017.10:g.42338945T>C
Diego blood group RefSeqGene (LRG_803)	NG_007498.1:g.11558A>G

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.166A>G	K [AAG] > E [GAG]	Coding Sequence Variant
band 3 anion transport protein	NP_000333.1:p.Lys56Glu	K (Lys) > E (Glu)	Missense Variant
SLC4A1 transcript variant X3	XM_005257593.6:c.-30=	N/A	5 Prime UTR Variant
SLC4A1 transcript variant X1	XM_011525129.3:c.166A>G	K [AAG] > E [GAG]	Coding Sequence Variant
band 3 anion transport protein isoform X1	XP_011523431.1:p.Lys56Glu	K (Lys) > E (Glu)	Missense Variant
SLC4A1 transcript variant X2	XM_011525130.2:c.166A>G	K [AAG] > E [GAG]	Coding Sequence Variant
band 3 anion transport protein isoform X2	XP_011523432.1:p.Lys56Glu	K (Lys) > E (Glu)	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: C (allele ID: 32791 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000019328.31	Band 3 memphis	Pathogenic
RCV000251469.6	not specified	Benign
RCV000260217.4	Hemolytic anemia	Likely-Benign
RCV000357412.4	Autosomal dominant distal renal tubular acidosis	Likely-Benign
RCV000989926.4	Hereditary spherocytosis type 4	Benign-Likely-Benign
RCV001515404.11	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=	C
GRCh38.p14 chr 17	NC_000017.11:g.44261577=	NC_000017.11:g.44261577T>C
GRCh37.p13 chr 17	NC_000017.10:g.42338945=	NC_000017.10:g.42338945T>C
Diego blood group RefSeqGene (LRG_803)	NG_007498.1:g.11558=	NG_007498.1:g.11558A>G
SLC4A1 transcript	NM_000342.4:c.166=	NM_000342.4:c.166A>G
SLC4A1 transcript	NM_000342.3:c.166=	NM_000342.3:c.166A>G
SLC4A1 transcript variant X3	XM_005257593.6:c.-30=	XM_005257593.6:c.-30A>G
SLC4A1 transcript variant X3	XM_005257593.5:c.-30=	XM_005257593.5:c.-30A>G
SLC4A1 transcript variant X3	XM_005257593.4:c.-30=	XM_005257593.4:c.-30A>G
SLC4A1 transcript variant X2	XM_005257593.3:c.-30=	XM_005257593.3:c.-30A>G
SLC4A1 transcript variant X2	XM_005257593.2:c.-30=	XM_005257593.2:c.-30A>G
SLC4A1 transcript variant X2	XM_005257593.1:c.-30=	XM_005257593.1:c.-30A>G
SLC4A1 transcript variant X1	XM_011525129.3:c.166=	XM_011525129.3:c.166A>G
SLC4A1 transcript variant X1	XM_011525129.2:c.166=	XM_011525129.2:c.166A>G
SLC4A1 transcript variant X1	XM_011525129.1:c.166=	XM_011525129.1:c.166A>G
SLC4A1 transcript variant X2	XM_011525130.2:c.166=	XM_011525130.2:c.166A>G
SLC4A1 transcript variant X2	XM_011525130.1:c.166=	XM_011525130.1:c.166A>G
band 3 anion transport protein	NP_000333.1:p.Lys56=	NP_000333.1:p.Lys56Glu
band 3 anion transport protein isoform X1	XP_011523431.1:p.Lys56=	XP_011523431.1:p.Lys56Glu
band 3 anion transport protein isoform X2	XP_011523432.1:p.Lys56=	XP_011523432.1:p.Lys56Glu

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#.

135 SubSNP, 24 Frequency, 6 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	ARAVINDA	ss6477	Sep 19, 2000 (52)
2	IMCJ-GDT	ss22887998	Apr 05, 2004 (123)
3	KYUGEN	ss28461680	Sep 20, 2004 (123)
4	ILLUMINA	ss65728616	Oct 14, 2006 (127)
5	PERLEGEN	ss69196642	May 17, 2007 (127)
6	PGA-UW-FHCRC	ss70353423	May 17, 2007 (127)
7	ILLUMINA	ss74898221	Dec 07, 2007 (129)
8	CORNELL	ss86238035	Mar 23, 2008 (129)
9	KRIBB_YJKIM	ss119337512	Dec 01, 2009 (131)
10	GMI	ss158045618	Dec 01, 2009 (131)
11	SEATTLESEQ	ss159735565	Dec 01, 2009 (131)
12	ILLUMINA	ss160737513	Dec 01, 2009 (131)
13	ILLUMINA	ss173907859	Jul 04, 2010 (132)
14	BUSHMAN	ss202531737	Jul 04, 2010 (132)
15	1000GENOMES	ss227552929	Jul 14, 2010 (132)
16	1000GENOMES	ss237246899	Jul 15, 2010 (132)
17	1000GENOMES	ss243544518	Jul 15, 2010 (132)
18	OMICIA	ss244239631	Aug 29, 2012 (137)
19	ILLUMINA	ss244302752	Jul 04, 2010 (132)
20	OMIM-CURATED-RECORDS	ss275513969	Nov 22, 2010 (133)
21	GMI	ss282770234	May 04, 2012 (137)
22	NHLBI-ESP	ss342456020	May 09, 2011 (134)
23	ILLUMINA	ss481130621	May 04, 2012 (137)
24	ILLUMINA	ss481152648	May 04, 2012 (137)
25	ILLUMINA	ss482142199	Sep 08, 2015 (146)
26	ILLUMINA	ss485360337	May 04, 2012 (137)
27	1000GENOMES	ss491125103	May 04, 2012 (137)
28	EXOME_CHIP	ss491523359	May 04, 2012 (137)
29	CLINSEQ_SNP	ss491737788	May 04, 2012 (137)
30	ILLUMINA	ss533498410	Sep 08, 2015 (146)
31	TISHKOFF	ss565280124	Apr 25, 2013 (138)
32	SSMP	ss661082800	Apr 25, 2013 (138)
33	ILLUMINA	ss780729122	Sep 08, 2015 (146)
34	ILLUMINA	ss783125857	Sep 08, 2015 (146)
35	ILLUMINA	ss783405390	Sep 08, 2015 (146)
36	ILLUMINA	ss832384695	Sep 08, 2015 (146)
37	JMKIDD_LAB	ss974499078	Aug 21, 2014 (142)
38	EVA-GONL	ss993119055	Aug 21, 2014 (142)
39	JMKIDD_LAB	ss1067572039	Aug 21, 2014 (142)
40	JMKIDD_LAB	ss1081066187	Aug 21, 2014 (142)
41	1000GENOMES	ss1358702566	Aug 21, 2014 (142)
42	DDI	ss1428036756	Apr 01, 2015 (144)
43	EVA_GENOME_DK	ss1578161311	Apr 01, 2015 (144)
44	EVA_FINRISK	ss1584106651	Apr 01, 2015 (144)
45	EVA_UK10K_ALSPAC	ss1635675899	Apr 01, 2015 (144)
46	EVA_UK10K_TWINSUK	ss1678669932	Apr 01, 2015 (144)
47	EVA_EXAC	ss1692812262	Apr 01, 2015 (144)
48	EVA_DECODE	ss1697162431	Apr 01, 2015 (144)
49	EVA_MGP	ss1711462635	Apr 01, 2015 (144)
50	EVA_SVP	ss1713583304	Apr 01, 2015 (144)
51	ILLUMINA	ss1752226742	Sep 08, 2015 (146)
52	ILLUMINA	ss1752226743	Sep 08, 2015 (146)
53	ILLUMINA	ss1917919117	Feb 12, 2016 (147)
54	WEILL_CORNELL_DGM	ss1936579533	Feb 12, 2016 (147)
55	ILLUMINA	ss1946450591	Feb 12, 2016 (147)
56	ILLUMINA	ss1959748636	Feb 12, 2016 (147)
57	ACHAKRAVARTILAB	ss1998377543	Jul 19, 2016 (147)
58	JJLAB	ss2029066406	Sep 14, 2016 (149)
59	USC_VALOUEV	ss2157538092	Dec 20, 2016 (150)
60	HUMAN_LONGEVITY	ss2216938069	Dec 20, 2016 (150)
61	ILLUMINA	ss2633398211	Nov 08, 2017 (151)
62	GRF	ss2702100448	Nov 08, 2017 (151)
63	ILLUMINA	ss2710849335	Nov 08, 2017 (151)
64	GNOMAD	ss2742768984	Nov 08, 2017 (151)
65	GNOMAD	ss2749789930	Nov 08, 2017 (151)
66	GNOMAD	ss2950011342	Nov 08, 2017 (151)
67	AFFY	ss2985097186	Nov 08, 2017 (151)
68	SWEGEN	ss3015554477	Nov 08, 2017 (151)
69	ILLUMINA	ss3021782070	Nov 08, 2017 (151)
70	ILLUMINA	ss3627672791	Oct 12, 2018 (152)
71	ILLUMINA	ss3627672792	Oct 12, 2018 (152)
72	ILLUMINA	ss3633849474	Oct 12, 2018 (152)
73	ILLUMINA	ss3634676187	Oct 12, 2018 (152)
74	ILLUMINA	ss3634676188	Oct 12, 2018 (152)
75	ILLUMINA	ss3635537222	Oct 12, 2018 (152)
76	ILLUMINA	ss3636365807	Oct 12, 2018 (152)
77	ILLUMINA	ss3637288772	Oct 12, 2018 (152)
78	ILLUMINA	ss3638162327	Oct 12, 2018 (152)
79	ILLUMINA	ss3640383499	Oct 12, 2018 (152)
80	ILLUMINA	ss3640383500	Oct 12, 2018 (152)
81	ILLUMINA	ss3643140673	Oct 12, 2018 (152)
82	ILLUMINA	ss3644689005	Oct 12, 2018 (152)
83	OMUKHERJEE_ADBS	ss3646512079	Oct 12, 2018 (152)
84	ILLUMINA	ss3652198849	Oct 12, 2018 (152)
85	ILLUMINA	ss3653868500	Oct 12, 2018 (152)
86	EGCUT_WGS	ss3682440311	Jul 13, 2019 (153)
87	EVA_DECODE	ss3700489797	Jul 13, 2019 (153)
88	ILLUMINA	ss3725623477	Jul 13, 2019 (153)
89	ACPOP	ss3742035396	Jul 13, 2019 (153)
90	ILLUMINA	ss3744444463	Jul 13, 2019 (153)
91	ILLUMINA	ss3744976481	Jul 13, 2019 (153)
92	ILLUMINA	ss3744976482	Jul 13, 2019 (153)
93	EVA	ss3754680782	Jul 13, 2019 (153)
94	PAGE_CC	ss3771929206	Jul 13, 2019 (153)
95	ILLUMINA	ss3772474352	Jul 13, 2019 (153)
96	ILLUMINA	ss3772474353	Jul 13, 2019 (153)
97	KHV_HUMAN_GENOMES	ss3819949948	Jul 13, 2019 (153)
98	EVA	ss3825120847	Apr 27, 2020 (154)
99	EVA	ss3825900632	Apr 27, 2020 (154)
100	EVA	ss3834873126	Apr 27, 2020 (154)
101	EVA	ss3841046616	Apr 27, 2020 (154)
102	EVA	ss3846543561	Apr 27, 2020 (154)
103	SGDP_PRJ	ss3885773368	Apr 27, 2020 (154)
104	KRGDB	ss3935466540	Apr 27, 2020 (154)
105	KOGIC	ss3978871252	Apr 27, 2020 (154)
106	FSA-LAB	ss3984116665	Apr 27, 2021 (155)
107	EVA	ss3984723402	Apr 27, 2021 (155)
108	EVA	ss3986729538	Apr 27, 2021 (155)
109	EVA	ss4017767582	Apr 27, 2021 (155)
110	TOPMED	ss5036410238	Apr 27, 2021 (155)
111	TOMMO_GENOMICS	ss5222473756	Apr 27, 2021 (155)
112	EVA	ss5236943574	Apr 27, 2021 (155)
113	EVA	ss5237575737	Apr 27, 2021 (155)
114	EVA	ss5237669127	Oct 16, 2022 (156)
115	1000G_HIGH_COVERAGE	ss5303175956	Oct 16, 2022 (156)
116	TRAN_CS_UWATERLOO	ss5314448289	Oct 16, 2022 (156)
117	EVA	ss5315887403	Oct 16, 2022 (156)
118	EVA	ss5427672022	Oct 16, 2022 (156)
119	HUGCELL_USP	ss5496227000	Oct 16, 2022 (156)
120	1000G_HIGH_COVERAGE	ss5606916337	Oct 16, 2022 (156)
121	EVA	ss5623971465	Oct 16, 2022 (156)
122	EVA	ss5624073109	Oct 16, 2022 (156)
123	SANFORD_IMAGENETICS	ss5624397473	Oct 16, 2022 (156)
124	SANFORD_IMAGENETICS	ss5660126591	Oct 16, 2022 (156)
125	TOMMO_GENOMICS	ss5778704149	Oct 16, 2022 (156)
126	EVA	ss5799975894	Oct 16, 2022 (156)
127	YY_MCH	ss5816552524	Oct 16, 2022 (156)
128	EVA	ss5833999859	Oct 16, 2022 (156)
129	EVA	ss5847798562	Oct 16, 2022 (156)
130	EVA	ss5848450611	Oct 16, 2022 (156)
131	EVA	ss5851812858	Oct 16, 2022 (156)
132	EVA	ss5914005657	Oct 16, 2022 (156)
133	EVA	ss5936567868	Oct 16, 2022 (156)
134	EVA	ss5951519601	Oct 16, 2022 (156)
135	EVA	ss5979507682	Oct 16, 2022 (156)
136	1000Genomes	NC_000017.10 - 42338945	Oct 12, 2018 (152)
137	1000Genomes_30x	NC_000017.11 - 44261577	Oct 16, 2022 (156)
138	The Avon Longitudinal Study of Parents and Children	NC_000017.10 - 42338945	Oct 12, 2018 (152)
139	Genetic variation in the Estonian population	NC_000017.10 - 42338945	Oct 12, 2018 (152)
140	ExAC	NC_000017.10 - 42338945	Oct 12, 2018 (152)
141	FINRISK	NC_000017.10 - 42338945	Apr 27, 2020 (154)
142	The Danish reference pan genome	NC_000017.10 - 42338945	Apr 27, 2020 (154)
143	gnomAD - Genomes	NC_000017.11 - 44261577	Apr 27, 2021 (155)
144	gnomAD - Exomes	NC_000017.10 - 42338945	Jul 13, 2019 (153)
145	Genome of the Netherlands Release 5	NC_000017.10 - 42338945	Apr 27, 2020 (154)
146	KOREAN population from KRGDB	NC_000017.10 - 42338945	Apr 27, 2020 (154)
147	Korean Genome Project	NC_000017.11 - 44261577	Apr 27, 2020 (154)
148	Medical Genome Project healthy controls from Spanish population	NC_000017.10 - 42338945	Apr 27, 2020 (154)
149	Northern Sweden	NC_000017.10 - 42338945	Jul 13, 2019 (153)
150	The PAGE Study	NC_000017.11 - 44261577	Jul 13, 2019 (153)
151	CNV burdens in cranial meningiomas	NC_000017.10 - 42338945	Apr 27, 2021 (155)
152	Qatari	NC_000017.10 - 42338945	Apr 27, 2020 (154)
153	SGDP_PRJ	NC_000017.10 - 42338945	Apr 27, 2020 (154)
154	Siberian	NC_000017.10 - 42338945	Apr 27, 2020 (154)
155	8.3KJPN	NC_000017.10 - 42338945	Apr 27, 2021 (155)
156	14KJPN	NC_000017.11 - 44261577	Oct 16, 2022 (156)
157	TopMed	NC_000017.11 - 44261577	Apr 27, 2021 (155)
158	UK 10K study - Twins	NC_000017.10 - 42338945	Oct 12, 2018 (152)
159	ALFA	NC_000017.11 - 44261577	Apr 27, 2021 (155)
160	ClinVar	RCV000019328.31	Oct 16, 2022 (156)
161	ClinVar	RCV000251469.6	Oct 16, 2022 (156)
162	ClinVar	RCV000260217.4	Oct 16, 2022 (156)
163	ClinVar	RCV000357412.4	Oct 16, 2022 (156)
164	ClinVar	RCV000989926.4	Oct 16, 2022 (156)
165	ClinVar	RCV001515404.11	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)
rs13306786	Sep 24, 2004 (123)
rs16940577	Oct 08, 2004 (123)
rs118052197	Aug 16, 2010 (132)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss202531737, ss282770234, ss481130621, ss491737788, ss1697162431, ss1713583304, ss3643140673	NC_000017.9:39694470:T:C	NC_000017.11:44261576:T:C	(self)
71946094, 39874301, 28178559, 3258187, 103112, 4363543, 12074224, 17770508, 42643934, 578395, 15320261, 272949, 18621455, 37790348, 10054446, 80443063, 39874301, ss227552929, ss237246899, ss243544518, ss342456020, ss481152648, ss482142199, ss485360337, ss491125103, ss491523359, ss533498410, ss565280124, ss661082800, ss780729122, ss783125857, ss783405390, ss832384695, ss974499078, ss993119055, ss1067572039, ss1081066187, ss1358702566, ss1428036756, ss1578161311, ss1584106651, ss1635675899, ss1678669932, ss1692812262, ss1711462635, ss1752226742, ss1752226743, ss1917919117, ss1936579533, ss1946450591, ss1959748636, ss1998377543, ss2029066406, ss2157538092, ss2633398211, ss2702100448, ss2710849335, ss2742768984, ss2749789930, ss2950011342, ss2985097186, ss3015554477, ss3021782070, ss3627672791, ss3627672792, ss3633849474, ss3634676187, ss3634676188, ss3635537222, ss3636365807, ss3637288772, ss3638162327, ss3640383499, ss3640383500, ss3644689005, ss3646512079, ss3652198849, ss3653868500, ss3682440311, ss3742035396, ss3744444463, ss3744976481, ss3744976482, ss3754680782, ss3772474352, ss3772474353, ss3825120847, ss3825900632, ss3834873126, ss3841046616, ss3885773368, ss3935466540, ss3984116665, ss3984723402, ss3986729538, ss4017767582, ss5222473756, ss5237575737, ss5315887403, ss5427672022, ss5623971465, ss5624073109, ss5624397473, ss5660126591, ss5799975894, ss5833999859, ss5847798562, ss5848450611, ss5936567868, ss5951519601, ss5979507682	NC_000017.10:42338944:T:C	NC_000017.11:44261576:T:C	(self)
RCV000019328.31, RCV000251469.6, RCV000260217.4, RCV000357412.4, RCV000989926.4, RCV001515404.11, 94442272, 507607187, 35249253, 1150675, 112541253, 251955900, 7628183087, ss244239631, ss275513969, ss2216938069, ss3700489797, ss3725623477, ss3771929206, ss3819949948, ss3846543561, ss3978871252, ss5036410238, ss5236943574, ss5237669127, ss5303175956, ss5314448289, ss5496227000, ss5606916337, ss5778704149, ss5816552524, ss5851812858, ss5914005657	NC_000017.11:44261576:T:C	NC_000017.11:44261576:T:C	(self)
ss6477, ss22887998, ss28461680, ss65728616, ss69196642, ss70353423, ss74898221, ss86238035, ss119337512, ss158045618, ss159735565, ss160737513, ss173907859, ss244302752	NT_010783.15:7613096:T:C	NC_000017.11:44261576:T:C	(self)

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

9 citations for rs5036

PMID	Title	Author	Year	Journal
893429	Detection of a variant of protein 3, the major transmembrane protein of the human erythrocyte.	Mueller TJ et al.	1977	The Journal of biological chemistry
1419785	Band 3-Memphis is associated with a lower transport rate of phosphoenolpyruvate.	Ideguchi H et al.	1992	British journal of haematology
1520883	Band 3 Memphis: a widespread polymorphism with abnormal electrophoretic mobility of erythrocyte band 3 protein caused by substitution AAG----GAG (Lys----Glu) in codon 56.	Jarolim P et al.	1992	Blood
1678289	Human erythrocyte band 3 polymorphism (band 3 Memphis): characterization of the structural modification (Lys 56----Glu) by protein chemistry methods.	Yannoukakos D et al.	1991	Blood
2146504	Molecular defect of the band 3 protein in southeast Asian ovalocytosis.	Liu SC et al.	1990	The New England journal of medicine
2196932	Frequencies of Band 3 variants of human red cell membranes in some different populations.	Ranney HM et al.	1990	British journal of haematology
8608262	Southeast Asian ovalocytosis in a South African kindred with hemolytic anemia.	Coetzer TL et al.	1996	Blood
19229254	Molecular population genetics of SLC4A1 and Southeast Asian ovalocytosis.	Wilder JA et al.	2009	Journal of human genetics
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

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).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs5036