Name: rs1805036
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.

rs1805036

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:17412737 (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: G>A / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.099045 (32692/330072, ALFA)
A=0.142000 (37586/264690, TOPMED)
A=0.096589 (23353/241778, GnomAD_exome) (+ 25 more)
A=0.146819 (20564/140064, GnomAD)
A=0.12511 (11046/88288, ExAC)
A=0.15113 (11894/78698, PAGE_STUDY)
A=0.02636 (745/28258, 14KJPN)
A=0.02548 (427/16758, 8.3KJPN)
A=0.14970 (1944/12986, GO-ESP)
A=0.1245 (797/6404, 1000G_30x)
A=0.1202 (602/5008, 1000G)
A=0.0991 (444/4480, Estonian)
A=0.0960 (370/3854, ALSPAC)
A=0.1060 (393/3708, TWINSUK)
A=0.0168 (49/2922, KOREAN)
A=0.0136 (25/1832, Korea1K)
A=0.103 (103/998, GoNL)
A=0.010 (8/792, PRJEB37584)
A=0.041 (25/610, Vietnamese)
A=0.085 (51/600, NorthernSweden)
A=0.088 (47/534, MGP)
A=0.143 (46/322, HapMap)
A=0.124 (34/274, FINRISK)
A=0.139 (30/216, Qatari)
G=0.45 (44/98, SGDP_PRJ)
A=0.05 (2/40, GENOME_DK)
G=0.5 (4/8, Siberian)
A=0.5 (4/8, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: ABCC8 : Missense 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	351474	G=0.898357	A=0.101643
European	Sub	300942	G=0.903154	A=0.096846
African	Sub	14960	G=0.75361	A=0.24639
African Others	Sub	560	G=0.723	A=0.277
African American	Sub	14400	G=0.75479	A=0.24521
Asian	Sub	3944	G=0.9784	A=0.0216
East Asian	Sub	3168	G=0.9757	A=0.0243
Other Asian	Sub	776	G=0.990	A=0.010
Latin American 1	Sub	1472	G=0.8274	A=0.1726
Latin American 2	Sub	7148	G=0.9496	A=0.0504
South Asian	Sub	5224	G=0.9194	A=0.0806
Other	Sub	17784	G=0.90025	A=0.09975

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	330072	G=0.900955	A=0.099045
Allele Frequency Aggregator	European	Sub	287766	G=0.903262	A=0.096738
Allele Frequency Aggregator	Other	Sub	15536	G=0.90429	A=0.09571
Allele Frequency Aggregator	African	Sub	8982	G=0.7498	A=0.2502
Allele Frequency Aggregator	Latin American 2	Sub	7148	G=0.9496	A=0.0504
Allele Frequency Aggregator	South Asian	Sub	5224	G=0.9194	A=0.0806
Allele Frequency Aggregator	Asian	Sub	3944	G=0.9784	A=0.0216
Allele Frequency Aggregator	Latin American 1	Sub	1472	G=0.8274	A=0.1726
TopMed	Global	Study-wide	264690	G=0.858000	A=0.142000
gnomAD - Exomes	Global	Study-wide	241778	G=0.903411	A=0.096589
gnomAD - Exomes	European	Sub	129730	G=0.895398	A=0.104602
gnomAD - Exomes	Asian	Sub	47116	G=0.94236	A=0.05764
gnomAD - Exomes	American	Sub	33932	G=0.94872	A=0.05128
gnomAD - Exomes	African	Sub	15150	G=0.74145	A=0.25855
gnomAD - Exomes	Ashkenazi Jewish	Sub	9902	G=0.9166	A=0.0834
gnomAD - Exomes	Other	Sub	5948	G=0.9018	A=0.0982
gnomAD - Genomes	Global	Study-wide	140064	G=0.853181	A=0.146819
gnomAD - Genomes	European	Sub	75898	G=0.89556	A=0.10444
gnomAD - Genomes	African	Sub	41914	G=0.74242	A=0.25758
gnomAD - Genomes	American	Sub	13656	G=0.91139	A=0.08861
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	G=0.9174	A=0.0826
gnomAD - Genomes	East Asian	Sub	3128	G=0.9668	A=0.0332
gnomAD - Genomes	Other	Sub	2150	G=0.8823	A=0.1177
ExAC	Global	Study-wide	88288	G=0.87489	A=0.12511
ExAC	Europe	Sub	53546	G=0.87508	A=0.12492
ExAC	Asian	Sub	18254	G=0.92462	A=0.07538
ExAC	African	Sub	8114	G=0.7027	A=0.2973
ExAC	American	Sub	7728	G=0.9372	A=0.0628
ExAC	Other	Sub	646	G=0.870	A=0.130
The PAGE Study	Global	Study-wide	78698	G=0.84887	A=0.15113
The PAGE Study	AfricanAmerican	Sub	32514	G=0.74608	A=0.25392
The PAGE Study	Mexican	Sub	10810	G=0.94477	A=0.05523
The PAGE Study	Asian	Sub	8316	G=0.9655	A=0.0345
The PAGE Study	PuertoRican	Sub	7918	G=0.8699	A=0.1301
The PAGE Study	NativeHawaiian	Sub	4534	G=0.9579	A=0.0421
The PAGE Study	Cuban	Sub	4230	G=0.9024	A=0.0976
The PAGE Study	Dominican	Sub	3828	G=0.8307	A=0.1693
The PAGE Study	CentralAmerican	Sub	2450	G=0.9294	A=0.0706
The PAGE Study	SouthAmerican	Sub	1982	G=0.9445	A=0.0555
The PAGE Study	NativeAmerican	Sub	1260	G=0.9071	A=0.0929
The PAGE Study	SouthAsian	Sub	856	G=0.916	A=0.084
14KJPN	JAPANESE	Study-wide	28258	G=0.97364	A=0.02636
8.3KJPN	JAPANESE	Study-wide	16758	G=0.97452	A=0.02548
GO Exome Sequencing Project	Global	Study-wide	12986	G=0.85030	A=0.14970
GO Exome Sequencing Project	European American	Sub	8586	G=0.9029	A=0.0971
GO Exome Sequencing Project	African American	Sub	4400	G=0.7477	A=0.2523
1000Genomes_30x	Global	Study-wide	6404	G=0.8755	A=0.1245
1000Genomes_30x	African	Sub	1786	G=0.7066	A=0.2934
1000Genomes_30x	Europe	Sub	1266	G=0.9115	A=0.0885
1000Genomes_30x	South Asian	Sub	1202	G=0.9401	A=0.0599
1000Genomes_30x	East Asian	Sub	1170	G=0.9761	A=0.0239
1000Genomes_30x	American	Sub	980	G=0.938	A=0.062
1000Genomes	Global	Study-wide	5008	G=0.8798	A=0.1202
1000Genomes	African	Sub	1322	G=0.7110	A=0.2890
1000Genomes	East Asian	Sub	1008	G=0.9792	A=0.0208
1000Genomes	Europe	Sub	1006	G=0.9046	A=0.0954
1000Genomes	South Asian	Sub	978	G=0.937	A=0.063
1000Genomes	American	Sub	694	G=0.941	A=0.059
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.9009	A=0.0991
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.9040	A=0.0960
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.8940	A=0.1060
KOREAN population from KRGDB	KOREAN	Study-wide	2922	G=0.9832	A=0.0168, T=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	G=0.9864	A=0.0136
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.897	A=0.103
CNV burdens in cranial meningiomas	Global	Study-wide	792	G=0.990	A=0.010
CNV burdens in cranial meningiomas	CRM	Sub	792	G=0.990	A=0.010
A Vietnamese Genetic Variation Database	Global	Study-wide	610	G=0.959	A=0.041
Northern Sweden	ACPOP	Study-wide	600	G=0.915	A=0.085
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.912	A=0.088
HapMap	Global	Study-wide	322	G=0.857	A=0.143
HapMap	African	Sub	118	G=0.712	A=0.288
HapMap	American	Sub	116	G=0.922	A=0.078
HapMap	Asian	Sub	88	G=0.97	A=0.03
FINRISK	Finnish from FINRISK project	Study-wide	274	G=0.876	A=0.124
Qatari	Global	Study-wide	216	G=0.861	A=0.139
SGDP_PRJ	Global	Study-wide	98	G=0.45	A=0.55
The Danish reference pan genome	Danish	Study-wide	40	G=0.95	A=0.05
Siberian	Global	Study-wide	8	G=0.5	A=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 11	NC_000011.10:g.17412737G>A
GRCh38.p14 chr 11	NC_000011.10:g.17412737G>T
GRCh37.p13 chr 11	NC_000011.9:g.17434284G>A
GRCh37.p13 chr 11	NC_000011.9:g.17434284G>T
ABCC8 RefSeqGene (LRG_790)	NG_008867.1:g.69166C>T
ABCC8 RefSeqGene (LRG_790)	NG_008867.1:g.69166C>A

Gene: ABCC8, ATP binding cassette subfamily C member 8 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ABCC8 transcript variant 5	NM_001351297.2:c.2482C>T	L [CTG] > L [TTG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 8 isoform 5	NP_001338226.1:p.Leu828=	L (Leu) > L (Leu)	Synonymous Variant
ABCC8 transcript variant 5	NM_001351297.2:c.2482C>A	L [CTG] > M [ATG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 8 isoform 5	NP_001338226.1:p.Leu828Met	L (Leu) > M (Met)	Missense Variant
ABCC8 transcript variant 3	NM_001351295.2:c.2551C>T	L [CTG] > L [TTG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 8 isoform 3	NP_001338224.1:p.Leu851=	L (Leu) > L (Leu)	Synonymous Variant
ABCC8 transcript variant 3	NM_001351295.2:c.2551C>A	L [CTG] > M [ATG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 8 isoform 3	NP_001338224.1:p.Leu851Met	L (Leu) > M (Met)	Missense Variant
ABCC8 transcript variant 4	NM_001351296.2:c.2485C>T	L [CTG] > L [TTG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 8 isoform 4	NP_001338225.1:p.Leu829=	L (Leu) > L (Leu)	Synonymous Variant
ABCC8 transcript variant 4	NM_001351296.2:c.2485C>A	L [CTG] > M [ATG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 8 isoform 4	NP_001338225.1:p.Leu829Met	L (Leu) > M (Met)	Missense Variant
ABCC8 transcript variant 2	NM_000352.6:c.2485C>T	L [CTG] > L [TTG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 8 isoform 2	NP_000343.2:p.Leu829=	L (Leu) > L (Leu)	Synonymous Variant
ABCC8 transcript variant 2	NM_000352.6:c.2485C>A	L [CTG] > M [ATG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 8 isoform 2	NP_000343.2:p.Leu829Met	L (Leu) > M (Met)	Missense Variant
ABCC8 transcript variant 1	NM_001287174.3:c.2488C>T	L [CTG] > L [TTG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 8 isoform 1	NP_001274103.1:p.Leu830=	L (Leu) > L (Leu)	Synonymous Variant
ABCC8 transcript variant 1	NM_001287174.3:c.2488C>A	L [CTG] > M [ATG]	Coding Sequence Variant
ATP-binding cassette sub-family C member 8 isoform 1	NP_001274103.1:p.Leu830Met	L (Leu) > M (Met)	Missense Variant
ABCC8 transcript variant 6	NR_147094.2:n.2554C>T	N/A	Non Coding Transcript Variant
ABCC8 transcript variant 6	NR_147094.2:n.2554C>A	N/A	Non Coding Transcript 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: A (allele ID: 167539 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000144986.7	not specified	Benign
RCV000304886.5	Diabetes mellitus, transient neonatal, 2	Benign
RCV000364184.4	Permanent neonatal diabetes mellitus	Benign
RCV000576603.5	Hyperinsulinemic hypoglycemia, familial, 1	Benign
RCV001277196.2	Hereditary hyperinsulinism	Benign
RCV001520135.8	not provided	Benign
RCV001533280.2	Leucine-induced hypoglycemia	Benign
RCV001533281.2	Diabetes mellitus, permanent neonatal 3	Benign
RCV002226680.2	Neonatal hypoglycemia	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	G=	A	T
GRCh38.p14 chr 11	NC_000011.10:g.17412737=	NC_000011.10:g.17412737G>A	NC_000011.10:g.17412737G>T
GRCh37.p13 chr 11	NC_000011.9:g.17434284=	NC_000011.9:g.17434284G>A	NC_000011.9:g.17434284G>T
ABCC8 RefSeqGene (LRG_790)	NG_008867.1:g.69166=	NG_008867.1:g.69166C>T	NG_008867.1:g.69166C>A
ABCC8 transcript variant 2	NM_000352.6:c.2485=	NM_000352.6:c.2485C>T	NM_000352.6:c.2485C>A
ABCC8 transcript variant 2	NM_000352.5:c.2485=	NM_000352.5:c.2485C>T	NM_000352.5:c.2485C>A
ABCC8 transcript variant 2	NM_000352.4:c.2485=	NM_000352.4:c.2485C>T	NM_000352.4:c.2485C>A
ABCC8 transcript	NM_000352.3:c.2485=	NM_000352.3:c.2485C>T	NM_000352.3:c.2485C>A
ABCC8 transcript variant 1	NM_001287174.3:c.2488=	NM_001287174.3:c.2488C>T	NM_001287174.3:c.2488C>A
ABCC8 transcript variant 1	NM_001287174.2:c.2488=	NM_001287174.2:c.2488C>T	NM_001287174.2:c.2488C>A
ABCC8 transcript variant 1	NM_001287174.1:c.2488=	NM_001287174.1:c.2488C>T	NM_001287174.1:c.2488C>A
ABCC8 transcript variant 6	NR_147094.2:n.2554=	NR_147094.2:n.2554C>T	NR_147094.2:n.2554C>A
ABCC8 transcript variant 6	NR_147094.1:n.2554=	NR_147094.1:n.2554C>T	NR_147094.1:n.2554C>A
ABCC8 transcript variant 3	NM_001351295.2:c.2551=	NM_001351295.2:c.2551C>T	NM_001351295.2:c.2551C>A
ABCC8 transcript variant 3	NM_001351295.1:c.2551=	NM_001351295.1:c.2551C>T	NM_001351295.1:c.2551C>A
ABCC8 transcript variant 4	NM_001351296.2:c.2485=	NM_001351296.2:c.2485C>T	NM_001351296.2:c.2485C>A
ABCC8 transcript variant 4	NM_001351296.1:c.2485=	NM_001351296.1:c.2485C>T	NM_001351296.1:c.2485C>A
ABCC8 transcript variant 5	NM_001351297.2:c.2482=	NM_001351297.2:c.2482C>T	NM_001351297.2:c.2482C>A
ABCC8 transcript variant 5	NM_001351297.1:c.2482=	NM_001351297.1:c.2482C>T	NM_001351297.1:c.2482C>A
ATP-binding cassette sub-family C member 8 isoform 2	NP_000343.2:p.Leu829=	NP_000343.2:p.Leu829=	NP_000343.2:p.Leu829Met
ATP-binding cassette sub-family C member 8 isoform 1	NP_001274103.1:p.Leu830=	NP_001274103.1:p.Leu830=	NP_001274103.1:p.Leu830Met
ATP-binding cassette sub-family C member 8 isoform 3	NP_001338224.1:p.Leu851=	NP_001338224.1:p.Leu851=	NP_001338224.1:p.Leu851Met
ATP-binding cassette sub-family C member 8 isoform 4	NP_001338225.1:p.Leu829=	NP_001338225.1:p.Leu829=	NP_001338225.1:p.Leu829Met
ATP-binding cassette sub-family C member 8 isoform 5	NP_001338226.1:p.Leu828=	NP_001338226.1:p.Leu828=	NP_001338226.1:p.Leu828Met

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#.

125 SubSNP, 27 Frequency, 9 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	HGBASE	ss2425950	Nov 14, 2000 (89)
2	RIKENSNPRC	ss5602702	Dec 16, 2002 (126)
3	IMCJ-GDT	ss28501053	Sep 24, 2004 (126)
4	ILLUMINA	ss65731563	Oct 14, 2006 (127)
5	PERLEGEN	ss69311093	May 16, 2007 (127)
6	CORNELL	ss86237661	Mar 23, 2008 (129)
7	ILLUMINA-UK	ss119703363	Dec 01, 2009 (131)
8	ILLUMINA	ss153737182	Dec 01, 2009 (131)
9	ILLUMINA	ss159329890	Dec 01, 2009 (131)
10	SEATTLESEQ	ss159722776	Dec 01, 2009 (131)
11	ILLUMINA	ss160463250	Dec 01, 2009 (131)
12	COMPLETE_GENOMICS	ss170566681	Jul 04, 2010 (132)
13	ILLUMINA	ss172926407	Jul 04, 2010 (132)
14	BUSHMAN	ss202441842	Jul 04, 2010 (132)
15	1000GENOMES	ss211096318	Jul 14, 2010 (132)
16	1000GENOMES	ss225115386	Jul 14, 2010 (132)
17	1000GENOMES	ss235464212	Jul 15, 2010 (132)
18	NHLBI-ESP	ss342319931	May 09, 2011 (134)
19	ILLUMINA	ss410883442	Jul 19, 2016 (147)
20	ILLUMINA	ss480301638	May 04, 2012 (137)
21	ILLUMINA	ss480312728	May 04, 2012 (137)
22	ILLUMINA	ss481068791	Sep 08, 2015 (146)
23	ILLUMINA	ss484948618	May 04, 2012 (137)
24	1000GENOMES	ss491013852	May 04, 2012 (137)
25	CLINSEQ_SNP	ss491640776	May 04, 2012 (137)
26	ILLUMINA	ss536992651	Sep 08, 2015 (146)
27	TISHKOFF	ss562414040	Apr 25, 2013 (138)
28	SSMP	ss657832779	Apr 25, 2013 (138)
29	ILLUMINA	ss778841610	Sep 08, 2015 (146)
30	ILLUMINA	ss782920616	Sep 08, 2015 (146)
31	ILLUMINA	ss783883626	Sep 08, 2015 (146)
32	ILLUMINA	ss832175744	Sep 08, 2015 (146)
33	ILLUMINA	ss832841899	Jul 13, 2019 (153)
34	ILLUMINA	ss834302168	Sep 08, 2015 (146)
35	JMKIDD_LAB	ss974478220	Aug 21, 2014 (142)
36	EVA-GONL	ss988256216	Aug 21, 2014 (142)
37	JMKIDD_LAB	ss1067520952	Aug 21, 2014 (142)
38	JMKIDD_LAB	ss1077536380	Aug 21, 2014 (142)
39	1000GENOMES	ss1340296901	Aug 21, 2014 (142)
40	DDI	ss1426551321	Apr 01, 2015 (144)
41	CLINVAR	ss1457622219	Nov 23, 2014 (142)
42	EVA_GENOME_DK	ss1575551958	Apr 01, 2015 (144)
43	EVA_FINRISK	ss1584073427	Apr 01, 2015 (144)
44	EVA_DECODE	ss1597934302	Apr 01, 2015 (144)
45	EVA_UK10K_ALSPAC	ss1626086751	Apr 01, 2015 (144)
46	EVA_UK10K_TWINSUK	ss1669080784	Apr 01, 2015 (144)
47	EVA_EXAC	ss1690280390	Apr 01, 2015 (144)
48	EVA_MGP	ss1711284772	Apr 01, 2015 (144)
49	ILLUMINA	ss1752007263	Sep 08, 2015 (146)
50	HAMMER_LAB	ss1806713332	Sep 08, 2015 (146)
51	WEILL_CORNELL_DGM	ss1931617492	Feb 12, 2016 (147)
52	ILLUMINA	ss1946303976	Feb 12, 2016 (147)
53	ILLUMINA	ss1959329271	Feb 12, 2016 (147)
54	JJLAB	ss2026552838	Sep 14, 2016 (149)
55	USC_VALOUEV	ss2154840919	Dec 20, 2016 (150)
56	HUMAN_LONGEVITY	ss2180559579	Dec 20, 2016 (150)
57	ILLUMINA	ss2632807314	Nov 08, 2017 (151)
58	ILLUMINA	ss2632807315	Nov 08, 2017 (151)
59	ILLUMINA	ss2710661567	Nov 08, 2017 (151)
60	GNOMAD	ss2738832240	Nov 08, 2017 (151)
61	GNOMAD	ss2748571585	Nov 08, 2017 (151)
62	GNOMAD	ss2896839797	Nov 08, 2017 (151)
63	AFFY	ss2984935910	Nov 08, 2017 (151)
64	SWEGEN	ss3007670813	Nov 08, 2017 (151)
65	ILLUMINA	ss3021313100	Nov 08, 2017 (151)
66	BIOINF_KMB_FNS_UNIBA	ss3027072533	Nov 08, 2017 (151)
67	CSHL	ss3349475107	Nov 08, 2017 (151)
68	ILLUMINA	ss3625596945	Oct 12, 2018 (152)
69	ILLUMINA	ss3626610518	Oct 12, 2018 (152)
70	ILLUMINA	ss3630826148	Oct 12, 2018 (152)
71	ILLUMINA	ss3632977519	Oct 12, 2018 (152)
72	ILLUMINA	ss3633676325	Oct 12, 2018 (152)
73	ILLUMINA	ss3634443194	Oct 12, 2018 (152)
74	ILLUMINA	ss3635368169	Oct 12, 2018 (152)
75	ILLUMINA	ss3636127491	Oct 12, 2018 (152)
76	ILLUMINA	ss3637118970	Oct 12, 2018 (152)
77	ILLUMINA	ss3637893922	Oct 12, 2018 (152)
78	ILLUMINA	ss3640150533	Oct 12, 2018 (152)
79	ILLUMINA	ss3644556770	Oct 12, 2018 (152)
80	OMUKHERJEE_ADBS	ss3646422971	Oct 12, 2018 (152)
81	ILLUMINA	ss3651675512	Oct 12, 2018 (152)
82	ILLUMINA	ss3653707677	Oct 12, 2018 (152)
83	EGCUT_WGS	ss3675070556	Jul 13, 2019 (153)
84	EVA_DECODE	ss3691302275	Jul 13, 2019 (153)
85	ILLUMINA	ss3725220940	Jul 13, 2019 (153)
86	ACPOP	ss3737959887	Jul 13, 2019 (153)
87	ILLUMINA	ss3744081524	Jul 13, 2019 (153)
88	ILLUMINA	ss3744744115	Jul 13, 2019 (153)
89	EVA	ss3748998063	Jul 13, 2019 (153)
90	PAGE_CC	ss3771609202	Jul 13, 2019 (153)
91	ILLUMINA	ss3772244174	Jul 13, 2019 (153)
92	KHV_HUMAN_GENOMES	ss3814345213	Jul 13, 2019 (153)
93	EVA	ss3824598313	Apr 26, 2020 (154)
94	EVA	ss3825794060	Apr 26, 2020 (154)
95	EVA	ss3832502105	Apr 26, 2020 (154)
96	SGDP_PRJ	ss3875738772	Apr 26, 2020 (154)
97	KRGDB	ss3923977897	Apr 26, 2020 (154)
98	KOGIC	ss3969296091	Apr 26, 2020 (154)
99	FSA-LAB	ss3983997711	Apr 26, 2021 (155)
100	EVA	ss3984646983	Apr 26, 2021 (155)
101	EVA	ss3986517454	Apr 26, 2021 (155)
102	EVA	ss4017525953	Apr 26, 2021 (155)
103	TOPMED	ss4876784297	Apr 26, 2021 (155)
104	TOMMO_GENOMICS	ss5200883432	Apr 26, 2021 (155)
105	EVA	ss5236892171	Apr 26, 2021 (155)
106	EVA	ss5237213297	Apr 26, 2021 (155)
107	EVA	ss5237656968	Oct 16, 2022 (156)
108	1000G_HIGH_COVERAGE	ss5286557920	Oct 16, 2022 (156)
109	TRAN_CS_UWATERLOO	ss5314431190	Oct 16, 2022 (156)
110	EVA	ss5315530535	Oct 16, 2022 (156)
111	EVA	ss5398026789	Oct 16, 2022 (156)
112	HUGCELL_USP	ss5481844995	Oct 16, 2022 (156)
113	EVA	ss5510266464	Oct 16, 2022 (156)
114	1000G_HIGH_COVERAGE	ss5581762038	Oct 16, 2022 (156)
115	EVA	ss5623952601	Oct 16, 2022 (156)
116	EVA	ss5624018290	Oct 16, 2022 (156)
117	SANFORD_IMAGENETICS	ss5650724849	Oct 16, 2022 (156)
118	TOMMO_GENOMICS	ss5747694102	Oct 16, 2022 (156)
119	EVA	ss5799836263	Oct 16, 2022 (156)
120	YY_MCH	ss5812167174	Oct 16, 2022 (156)
121	EVA	ss5836323762	Oct 16, 2022 (156)
122	EVA	ss5847624474	Oct 16, 2022 (156)
123	EVA	ss5848319743	Oct 16, 2022 (156)
124	EVA	ss5919010401	Oct 16, 2022 (156)
125	EVA	ss5942034386	Oct 16, 2022 (156)
126	1000Genomes	NC_000011.9 - 17434284	Oct 12, 2018 (152)
127	1000Genomes_30x	NC_000011.10 - 17412737	Oct 16, 2022 (156)
128	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 17434284	Oct 12, 2018 (152)
129	Genetic variation in the Estonian population	NC_000011.9 - 17434284	Oct 12, 2018 (152)
130	ExAC	NC_000011.9 - 17434284	Oct 12, 2018 (152)
131	FINRISK	NC_000011.9 - 17434284	Apr 26, 2020 (154)
132	The Danish reference pan genome	NC_000011.9 - 17434284	Apr 26, 2020 (154)
133	gnomAD - Genomes	NC_000011.10 - 17412737	Apr 26, 2021 (155)
134	gnomAD - Exomes	NC_000011.9 - 17434284	Jul 13, 2019 (153)
135	GO Exome Sequencing Project	NC_000011.9 - 17434284	Oct 12, 2018 (152)
136	Genome of the Netherlands Release 5	NC_000011.9 - 17434284	Apr 26, 2020 (154)
137	HapMap	NC_000011.10 - 17412737	Apr 26, 2020 (154)
138	KOREAN population from KRGDB	NC_000011.9 - 17434284	Apr 26, 2020 (154)
139	Korean Genome Project	NC_000011.10 - 17412737	Apr 26, 2020 (154)
140	Medical Genome Project healthy controls from Spanish population	NC_000011.9 - 17434284	Apr 26, 2020 (154)
141	Northern Sweden	NC_000011.9 - 17434284	Jul 13, 2019 (153)
142	The PAGE Study	NC_000011.10 - 17412737	Jul 13, 2019 (153)
143	CNV burdens in cranial meningiomas	NC_000011.9 - 17434284	Apr 26, 2021 (155)
144	Qatari	NC_000011.9 - 17434284	Apr 26, 2020 (154)
145	SGDP_PRJ	NC_000011.9 - 17434284	Apr 26, 2020 (154)
146	Siberian	NC_000011.9 - 17434284	Apr 26, 2020 (154)
147	8.3KJPN	NC_000011.9 - 17434284	Apr 26, 2021 (155)
148	14KJPN	NC_000011.10 - 17412737	Oct 16, 2022 (156)
149	TopMed	NC_000011.10 - 17412737	Apr 26, 2021 (155)
150	UK 10K study - Twins	NC_000011.9 - 17434284	Oct 12, 2018 (152)
151	A Vietnamese Genetic Variation Database	NC_000011.9 - 17434284	Jul 13, 2019 (153)
152	ALFA	NC_000011.10 - 17412737	Apr 26, 2021 (155)
153	ClinVar	RCV000144986.7	Oct 16, 2022 (156)
154	ClinVar	RCV000304886.5	Oct 16, 2022 (156)
155	ClinVar	RCV000364184.4	Oct 16, 2022 (156)
156	ClinVar	RCV000576603.5	Oct 16, 2022 (156)
157	ClinVar	RCV001277196.2	Oct 16, 2022 (156)
158	ClinVar	RCV001520135.8	Oct 16, 2022 (156)
159	ClinVar	RCV001533280.2	Oct 16, 2022 (156)
160	ClinVar	RCV001533281.2	Oct 16, 2022 (156)
161	ClinVar	RCV002226680.2	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)
rs4148633	Mar 11, 2006 (126)
rs17846751	Mar 11, 2006 (126)
rs117252444	Aug 16, 2010 (132)
rs386545685	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss119703363, ss170566681, ss202441842, ss211096318, ss480301638, ss491640776, ss1597934302, ss2710661567	NC_000011.8:17390859:G:A	NC_000011.10:17412736:G:A	(self)
52786113, 29322769, 20808804, 529911, 69888, 2462300, 8042875, 1055928, 13074020, 31155291, 400532, 11244752, 196457, 13659422, 27755752, 7357273, 58852739, 29322769, 6509180, ss225115386, ss235464212, ss342319931, ss480312728, ss481068791, ss484948618, ss491013852, ss536992651, ss562414040, ss657832779, ss778841610, ss782920616, ss783883626, ss832175744, ss832841899, ss834302168, ss974478220, ss988256216, ss1067520952, ss1077536380, ss1340296901, ss1426551321, ss1575551958, ss1584073427, ss1626086751, ss1669080784, ss1690280390, ss1711284772, ss1752007263, ss1806713332, ss1931617492, ss1946303976, ss1959329271, ss2026552838, ss2154840919, ss2632807314, ss2632807315, ss2738832240, ss2748571585, ss2896839797, ss2984935910, ss3007670813, ss3021313100, ss3349475107, ss3625596945, ss3626610518, ss3630826148, ss3632977519, ss3633676325, ss3634443194, ss3635368169, ss3636127491, ss3637118970, ss3637893922, ss3640150533, ss3644556770, ss3646422971, ss3651675512, ss3653707677, ss3675070556, ss3737959887, ss3744081524, ss3744744115, ss3748998063, ss3772244174, ss3824598313, ss3825794060, ss3832502105, ss3875738772, ss3923977897, ss3983997711, ss3984646983, ss3986517454, ss4017525953, ss5200883432, ss5315530535, ss5398026789, ss5510266464, ss5623952601, ss5624018290, ss5650724849, ss5799836263, ss5836323762, ss5847624474, ss5848319743, ss5942034386	NC_000011.9:17434283:G:A	NC_000011.10:17412736:G:A	(self)
RCV000144986.7, RCV000304886.5, RCV000364184.4, RCV000576603.5, RCV001277196.2, RCV001520135.8, RCV001533280.2, RCV001533281.2, RCV002226680.2, 69287973, 372654856, 559590, 25674092, 830671, 81531206, 92329953, 7292528728, ss1457622219, ss2180559579, ss3027072533, ss3691302275, ss3725220940, ss3771609202, ss3814345213, ss3969296091, ss4876784297, ss5236892171, ss5237213297, ss5237656968, ss5286557920, ss5314431190, ss5481844995, ss5581762038, ss5747694102, ss5812167174, ss5919010401	NC_000011.10:17412736:G:A	NC_000011.10:17412736:G:A	(self)
ss2425950, ss5602702, ss28501053, ss65731563, ss69311093, ss86237661, ss153737182, ss159329890, ss159722776, ss160463250, ss172926407, ss410883442	NT_009237.18:17374283:G:A	NC_000011.10:17412736:G:A	(self)
31155291, ss3923977897	NC_000011.9:17434283:G:T	NC_000011.10:17412736:G: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 rs1805036

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

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

rs1805036