Name: rs11308291
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.

rs11308291

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:201749219-201749232 (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: del(A)₄ / delAA / delA / dupA / du…
del(A)₄ / delAA / delA / dupA / dupAA / dupAAA
Variation Type: Indel Insertion and Deletion
Frequency: delA=0.4182 (2641/6315, ALFA)
delA=0.4928 (2168/4399, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ALS2 : Intron Variant
Publications: 0 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	6315	AAAAAAAAAAAAAA=0.5075	AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.4182, AAAAAAAAAAAAAAA=0.0738, AAAAAAAAAAAAAAAA=0.0005, AAAAAAAAAAAAAAAAA=0.0000	0.422255	0.297716	0.280029	32
European	Sub	4977	AAAAAAAAAAAAAA=0.3759	AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.5298, AAAAAAAAAAAAAAA=0.0936, AAAAAAAAAAAAAAAA=0.0006, AAAAAAAAAAAAAAAAA=0.0000	0.234719	0.394621	0.37066	32
African	Sub	1150	AAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	44	AAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	1106	AAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	20	AAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	18	AAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	2	AAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	30	AAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	40	AAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	20	AAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	78	AAAAAAAAAAAAAA=0.95	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.05, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	0.923077	0.025641	0.051282	5

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	6315	(A)₁₄=0.5075	del(A)₄=0.0000, delAA=0.0000, delA=0.4182, dupA=0.0738, dupAA=0.0005, dupAAA=0.0000
Allele Frequency Aggregator	European	Sub	4977	(A)₁₄=0.3759	del(A)₄=0.0000, delAA=0.0000, delA=0.5298, dupA=0.0936, dupAA=0.0006, dupAAA=0.0000
Allele Frequency Aggregator	African	Sub	1150	(A)₁₄=1.0000	del(A)₄=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	Other	Sub	78	(A)₁₄=0.95	del(A)₄=0.00, delAA=0.00, delA=0.05, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Latin American 2	Sub	40	(A)₁₄=1.00	del(A)₄=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Latin American 1	Sub	30	(A)₁₄=1.00	del(A)₄=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	South Asian	Sub	20	(A)₁₄=1.00	del(A)₄=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Asian	Sub	20	(A)₁₄=1.00	del(A)₄=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
1000Genomes	Global	Study-wide	4399	(A)₁₄=0.5072	delA=0.4928
1000Genomes	African	Sub	1187	(A)₁₄=0.7287	delA=0.2713
1000Genomes	Europe	Sub	935	(A)₁₄=0.343	delA=0.657
1000Genomes	South Asian	Sub	836	(A)₁₄=0.560	delA=0.440
1000Genomes	East Asian	Sub	780	(A)₁₄=0.515	delA=0.485
1000Genomes	American	Sub	661	(A)₁₄=0.265	delA=0.735

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 2	NC_000002.12:g.201749229_201749232del
GRCh38.p14 chr 2	NC_000002.12:g.201749231_201749232del
GRCh38.p14 chr 2	NC_000002.12:g.201749232del
GRCh38.p14 chr 2	NC_000002.12:g.201749232dup
GRCh38.p14 chr 2	NC_000002.12:g.201749231_201749232dup
GRCh38.p14 chr 2	NC_000002.12:g.201749230_201749232dup
GRCh37.p13 chr 2	NC_000002.11:g.202613952_202613955del
GRCh37.p13 chr 2	NC_000002.11:g.202613954_202613955del
GRCh37.p13 chr 2	NC_000002.11:g.202613955del
GRCh37.p13 chr 2	NC_000002.11:g.202613955dup
GRCh37.p13 chr 2	NC_000002.11:g.202613954_202613955dup
GRCh37.p13 chr 2	NC_000002.11:g.202613953_202613955dup
ALS2 RefSeqGene (LRG_654)	NG_008775.1:g.36951_36954del
ALS2 RefSeqGene (LRG_654)	NG_008775.1:g.36953_36954del
ALS2 RefSeqGene (LRG_654)	NG_008775.1:g.36954del
ALS2 RefSeqGene (LRG_654)	NG_008775.1:g.36954dup
ALS2 RefSeqGene (LRG_654)	NG_008775.1:g.36953_36954dup
ALS2 RefSeqGene (LRG_654)	NG_008775.1:g.36952_36954dup

Gene: ALS2, alsin Rho guanine nucleotide exchange factor ALS2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ALS2 transcript variant 1	NM_020919.4:c.1815+490_18… NM_020919.4:c.1815+490_1815+493del	N/A	Intron Variant
ALS2 transcript variant 2	NM_001135745.2:c.	N/A	Genic Downstream Transcript Variant
ALS2 transcript variant X1	XM_006712654.4:c.1815+490… XM_006712654.4:c.1815+490_1815+493del	N/A	Intron Variant
ALS2 transcript variant X2	XM_017004569.3:c.1815+490… XM_017004569.3:c.1815+490_1815+493del	N/A	Intron Variant
ALS2 transcript variant X3	XM_017004570.3:c.1815+490… XM_017004570.3:c.1815+490_1815+493del	N/A	Intron Variant
ALS2 transcript variant X2	XM_047445224.1:c.1476+490… XM_047445224.1:c.1476+490_1476+493del	N/A	Intron Variant
ALS2 transcript variant X4	XM_047445238.1:c.1815+490… XM_047445238.1:c.1815+490_1815+493del	N/A	Intron Variant
ALS2 transcript variant X5	XM_047445241.1:c.1815+490… XM_047445241.1:c.1815+490_1815+493del	N/A	Intron Variant
ALS2 transcript variant X6	XM_006712655.4:c.	N/A	Genic Upstream Transcript Variant
ALS2 transcript variant X7	XM_017004572.3:c.	N/A	Genic Upstream 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.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(A)₁₄=	del(A)₄	delAA	delA	dupA	dupAA	dupAAA
GRCh38.p14 chr 2	NC_000002.12:g.201749219_201749232=	NC_000002.12:g.201749229_201749232del	NC_000002.12:g.201749231_201749232del	NC_000002.12:g.201749232del	NC_000002.12:g.201749232dup	NC_000002.12:g.201749231_201749232dup	NC_000002.12:g.201749230_201749232dup
GRCh37.p13 chr 2	NC_000002.11:g.202613942_202613955=	NC_000002.11:g.202613952_202613955del	NC_000002.11:g.202613954_202613955del	NC_000002.11:g.202613955del	NC_000002.11:g.202613955dup	NC_000002.11:g.202613954_202613955dup	NC_000002.11:g.202613953_202613955dup
ALS2 RefSeqGene (LRG_654)	NG_008775.1:g.36941_36954=	NG_008775.1:g.36951_36954del	NG_008775.1:g.36953_36954del	NG_008775.1:g.36954del	NG_008775.1:g.36954dup	NG_008775.1:g.36953_36954dup	NG_008775.1:g.36952_36954dup
ALS2 transcript variant 1	NM_020919.3:c.1815+493=	NM_020919.3:c.1815+490_1815+493del	NM_020919.3:c.1815+492_1815+493del	NM_020919.3:c.1815+493del	NM_020919.3:c.1815+493dup	NM_020919.3:c.1815+492_1815+493dup	NM_020919.3:c.1815+491_1815+493dup
ALS2 transcript variant 1	NM_020919.4:c.1815+493=	NM_020919.4:c.1815+490_1815+493del	NM_020919.4:c.1815+492_1815+493del	NM_020919.4:c.1815+493del	NM_020919.4:c.1815+493dup	NM_020919.4:c.1815+492_1815+493dup	NM_020919.4:c.1815+491_1815+493dup
ALS2 transcript variant X1	XM_005246709.1:c.1815+493=	XM_005246709.1:c.1815+490_1815+493del	XM_005246709.1:c.1815+492_1815+493del	XM_005246709.1:c.1815+493del	XM_005246709.1:c.1815+493dup	XM_005246709.1:c.1815+492_1815+493dup	XM_005246709.1:c.1815+491_1815+493dup
ALS2 transcript variant X2	XM_005246710.1:c.1815+493=	XM_005246710.1:c.1815+490_1815+493del	XM_005246710.1:c.1815+492_1815+493del	XM_005246710.1:c.1815+493del	XM_005246710.1:c.1815+493dup	XM_005246710.1:c.1815+492_1815+493dup	XM_005246710.1:c.1815+491_1815+493dup
ALS2 transcript variant X1	XM_006712654.4:c.1815+493=	XM_006712654.4:c.1815+490_1815+493del	XM_006712654.4:c.1815+492_1815+493del	XM_006712654.4:c.1815+493del	XM_006712654.4:c.1815+493dup	XM_006712654.4:c.1815+492_1815+493dup	XM_006712654.4:c.1815+491_1815+493dup
ALS2 transcript variant X2	XM_017004569.3:c.1815+493=	XM_017004569.3:c.1815+490_1815+493del	XM_017004569.3:c.1815+492_1815+493del	XM_017004569.3:c.1815+493del	XM_017004569.3:c.1815+493dup	XM_017004569.3:c.1815+492_1815+493dup	XM_017004569.3:c.1815+491_1815+493dup
ALS2 transcript variant X3	XM_017004570.3:c.1815+493=	XM_017004570.3:c.1815+490_1815+493del	XM_017004570.3:c.1815+492_1815+493del	XM_017004570.3:c.1815+493del	XM_017004570.3:c.1815+493dup	XM_017004570.3:c.1815+492_1815+493dup	XM_017004570.3:c.1815+491_1815+493dup
ALS2 transcript variant X2	XM_047445224.1:c.1476+493=	XM_047445224.1:c.1476+490_1476+493del	XM_047445224.1:c.1476+492_1476+493del	XM_047445224.1:c.1476+493del	XM_047445224.1:c.1476+493dup	XM_047445224.1:c.1476+492_1476+493dup	XM_047445224.1:c.1476+491_1476+493dup
ALS2 transcript variant X4	XM_047445238.1:c.1815+493=	XM_047445238.1:c.1815+490_1815+493del	XM_047445238.1:c.1815+492_1815+493del	XM_047445238.1:c.1815+493del	XM_047445238.1:c.1815+493dup	XM_047445238.1:c.1815+492_1815+493dup	XM_047445238.1:c.1815+491_1815+493dup
ALS2 transcript variant X5	XM_047445241.1:c.1815+493=	XM_047445241.1:c.1815+490_1815+493del	XM_047445241.1:c.1815+492_1815+493del	XM_047445241.1:c.1815+493del	XM_047445241.1:c.1815+493dup	XM_047445241.1:c.1815+492_1815+493dup	XM_047445241.1:c.1815+491_1815+493dup

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#.

61 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss41712599	Mar 15, 2006 (126)
2	HGSV	ss77869929	Dec 06, 2007 (129)
3	HGSV	ss77938634	Dec 06, 2007 (129)
4	HGSV	ss78006569	Dec 06, 2007 (129)
5	HUMANGENOME_JCVI	ss95299270	Feb 05, 2009 (130)
6	BCMHGSC_JDW	ss103641747	Mar 15, 2016 (147)
7	GMI	ss287714163	May 09, 2011 (134)
8	GMI	ss288278198	May 04, 2012 (137)
9	GMI	ss288278201	May 04, 2012 (137)
10	PJP	ss295022708	May 09, 2011 (134)
11	PJP	ss295022709	May 09, 2011 (137)
12	SSMP	ss663275415	Apr 01, 2015 (144)
13	BILGI_BIOE	ss666183582	Apr 25, 2013 (138)
14	1000GENOMES	ss1369453258	Aug 21, 2014 (142)
15	1000GENOMES	ss1369453262	Aug 21, 2014 (142)
16	DDI	ss1536325951	Apr 01, 2015 (144)
17	HAMMER_LAB	ss1798200119	Sep 08, 2015 (146)
18	SYSTEMSBIOZJU	ss2625049179	Nov 08, 2017 (151)
19	SWEGEN	ss2991190396	Nov 08, 2017 (151)
20	MCHAISSO	ss3063974906	Nov 08, 2017 (151)
21	MCHAISSO	ss3064829495	Nov 08, 2017 (151)
22	BIOINF_KMB_FNS_UNIBA	ss3645607630	Oct 11, 2018 (152)
23	URBANLAB	ss3647250777	Oct 11, 2018 (152)
24	EVA_DECODE	ss3705819462	Jul 13, 2019 (153)
25	EVA_DECODE	ss3705819463	Jul 13, 2019 (153)
26	EVA_DECODE	ss3705819464	Jul 13, 2019 (153)
27	EVA_DECODE	ss3705819465	Jul 13, 2019 (153)
28	ACPOP	ss3729282140	Jul 13, 2019 (153)
29	ACPOP	ss3729282141	Jul 13, 2019 (153)
30	PACBIO	ss3784124498	Jul 13, 2019 (153)
31	PACBIO	ss3784124499	Jul 13, 2019 (153)
32	PACBIO	ss3789667150	Jul 13, 2019 (153)
33	PACBIO	ss3794540316	Jul 13, 2019 (153)
34	KHV_HUMAN_GENOMES	ss3802321178	Jul 13, 2019 (153)
35	KHV_HUMAN_GENOMES	ss3802321179	Jul 13, 2019 (153)
36	EVA	ss3827453174	Apr 25, 2020 (154)
37	EVA	ss3837146282	Apr 25, 2020 (154)
38	EVA	ss3842567480	Apr 25, 2020 (154)
39	KOGIC	ss3949882564	Apr 25, 2020 (154)
40	KOGIC	ss3949882565	Apr 25, 2020 (154)
41	KOGIC	ss3949882566	Apr 25, 2020 (154)
42	GNOMAD	ss4059248894	Apr 26, 2021 (155)
43	GNOMAD	ss4059248895	Apr 26, 2021 (155)
44	GNOMAD	ss4059248896	Apr 26, 2021 (155)
45	GNOMAD	ss4059248897	Apr 26, 2021 (155)
46	GNOMAD	ss4059248898	Apr 26, 2021 (155)
47	TOMMO_GENOMICS	ss5156030920	Apr 26, 2021 (155)
48	TOMMO_GENOMICS	ss5156030921	Apr 26, 2021 (155)
49	TOMMO_GENOMICS	ss5156030922	Apr 26, 2021 (155)
50	TOMMO_GENOMICS	ss5156030923	Apr 26, 2021 (155)
51	1000G_HIGH_COVERAGE	ss5251671184	Oct 12, 2022 (156)
52	1000G_HIGH_COVERAGE	ss5251671185	Oct 12, 2022 (156)
53	HUGCELL_USP	ss5451320014	Oct 12, 2022 (156)
54	HUGCELL_USP	ss5451320015	Oct 12, 2022 (156)
55	HUGCELL_USP	ss5451320016	Oct 12, 2022 (156)
56	TOMMO_GENOMICS	ss5686777235	Oct 12, 2022 (156)
57	TOMMO_GENOMICS	ss5686777236	Oct 12, 2022 (156)
58	TOMMO_GENOMICS	ss5686777237	Oct 12, 2022 (156)
59	TOMMO_GENOMICS	ss5686777238	Oct 12, 2022 (156)
60	EVA	ss5821449085	Oct 12, 2022 (156)
61	EVA	ss5934291578	Oct 12, 2022 (156)
62	1000Genomes	NC_000002.11 - 202613942	Oct 11, 2018 (152)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 87877026 (NC_000002.12:201749218::A 12960/135394) Row 87877027 (NC_000002.12:201749218::AA 16/135468) Row 87877028 (NC_000002.12:201749218:A: 71827/135374)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 87877026 (NC_000002.12:201749218::A 12960/135394) Row 87877027 (NC_000002.12:201749218::AA 16/135468) Row 87877028 (NC_000002.12:201749218:A: 71827/135374)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 87877026 (NC_000002.12:201749218::A 12960/135394) Row 87877027 (NC_000002.12:201749218::AA 16/135468) Row 87877028 (NC_000002.12:201749218:A: 71827/135374)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 87877026 (NC_000002.12:201749218::A 12960/135394) Row 87877027 (NC_000002.12:201749218::AA 16/135468) Row 87877028 (NC_000002.12:201749218:A: 71827/135374)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 87877026 (NC_000002.12:201749218::A 12960/135394) Row 87877027 (NC_000002.12:201749218::AA 16/135468) Row 87877028 (NC_000002.12:201749218:A: 71827/135374)...	-	Apr 26, 2021 (155)
68	Korean Genome Project Submission ignored due to conflicting rows: Row 6260565 (NC_000002.12:201749219:A: 729/1832) Row 6260566 (NC_000002.12:201749220::A 358/1832) Row 6260567 (NC_000002.12:201749218:AA: 6/1832)	-	Apr 25, 2020 (154)
69	Korean Genome Project Submission ignored due to conflicting rows: Row 6260565 (NC_000002.12:201749219:A: 729/1832) Row 6260566 (NC_000002.12:201749220::A 358/1832) Row 6260567 (NC_000002.12:201749218:AA: 6/1832)	-	Apr 25, 2020 (154)
70	Korean Genome Project Submission ignored due to conflicting rows: Row 6260565 (NC_000002.12:201749219:A: 729/1832) Row 6260566 (NC_000002.12:201749220::A 358/1832) Row 6260567 (NC_000002.12:201749218:AA: 6/1832)	-	Apr 25, 2020 (154)
71	Northern Sweden Submission ignored due to conflicting rows: Row 2567005 (NC_000002.11:202613941:A: 343/600) Row 2567006 (NC_000002.11:202613941::A 61/600)	-	Jul 13, 2019 (153)
72	Northern Sweden Submission ignored due to conflicting rows: Row 2567005 (NC_000002.11:202613941:A: 343/600) Row 2567006 (NC_000002.11:202613941::A 61/600)	-	Jul 13, 2019 (153)
73	8.3KJPN Submission ignored due to conflicting rows: Row 14000227 (NC_000002.11:202613941::A 4148/16760) Row 14000228 (NC_000002.11:202613941:A: 6192/16760) Row 14000229 (NC_000002.11:202613941:AA: 4/16760)...	-	Apr 26, 2021 (155)
74	8.3KJPN Submission ignored due to conflicting rows: Row 14000227 (NC_000002.11:202613941::A 4148/16760) Row 14000228 (NC_000002.11:202613941:A: 6192/16760) Row 14000229 (NC_000002.11:202613941:AA: 4/16760)...	-	Apr 26, 2021 (155)
75	8.3KJPN Submission ignored due to conflicting rows: Row 14000227 (NC_000002.11:202613941::A 4148/16760) Row 14000228 (NC_000002.11:202613941:A: 6192/16760) Row 14000229 (NC_000002.11:202613941:AA: 4/16760)...	-	Apr 26, 2021 (155)
76	8.3KJPN Submission ignored due to conflicting rows: Row 14000227 (NC_000002.11:202613941::A 4148/16760) Row 14000228 (NC_000002.11:202613941:A: 6192/16760) Row 14000229 (NC_000002.11:202613941:AA: 4/16760)...	-	Apr 26, 2021 (155)
77	14KJPN Submission ignored due to conflicting rows: Row 20614339 (NC_000002.12:201749218::A 7060/28256) Row 20614340 (NC_000002.12:201749218:A: 10373/28256) Row 20614341 (NC_000002.12:201749218:AA: 7/28256)...	-	Oct 12, 2022 (156)
78	14KJPN Submission ignored due to conflicting rows: Row 20614339 (NC_000002.12:201749218::A 7060/28256) Row 20614340 (NC_000002.12:201749218:A: 10373/28256) Row 20614341 (NC_000002.12:201749218:AA: 7/28256)...	-	Oct 12, 2022 (156)
79	14KJPN Submission ignored due to conflicting rows: Row 20614339 (NC_000002.12:201749218::A 7060/28256) Row 20614340 (NC_000002.12:201749218:A: 10373/28256) Row 20614341 (NC_000002.12:201749218:AA: 7/28256)...	-	Oct 12, 2022 (156)
80	14KJPN Submission ignored due to conflicting rows: Row 20614339 (NC_000002.12:201749218::A 7060/28256) Row 20614340 (NC_000002.12:201749218:A: 10373/28256) Row 20614341 (NC_000002.12:201749218:AA: 7/28256)...	-	Oct 12, 2022 (156)
81	ALFA	NC_000002.12 - 201749219	Apr 26, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs35821453	May 23, 2006 (127)
rs75974324	Oct 26, 2010 (133)
rs67008604	Feb 26, 2009 (130)
rs72031220	May 11, 2012 (137)
rs138525160	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4059248898	NC_000002.12:201749218:AAAA:	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAA	(self)
2936087727	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAA	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss3784124498, ss5156030922	NC_000002.11:202613941:AA:	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss3705819465, ss3949882566, ss4059248897, ss5451320014, ss5686777237	NC_000002.12:201749218:AA:	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
2936087727	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss103641747	NT_005403.17:52823371:AA:	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss77869929, ss77938634, ss78006569	NC_000002.9:202439460:A:	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss288278198, ss295022708	NC_000002.10:202322186:A:	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss295022709	NC_000002.10:202322199:A:	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
12322518, ss663275415, ss666183582, ss1369453258, ss1536325951, ss1798200119, ss2625049179, ss2991190396, ss3729282140, ss3784124499, ss3789667150, ss3794540316, ss3827453174, ss3837146282, ss5156030921, ss5821449085	NC_000002.11:202613941:A:	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3063974906, ss3064829495, ss3645607630, ss3647250777, ss3802321179, ss3842567480, ss4059248896, ss5251671184, ss5451320015, ss5686777236, ss5934291578	NC_000002.12:201749218:A:	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
2936087727	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3705819464, ss3949882564	NC_000002.12:201749219:A:	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss287714163	NT_005403.17:52823359:A:	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss41712599, ss95299270	NT_005403.17:52823372:A:	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss288278201	NC_000002.10:202322200::A	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3729282141, ss5156030920	NC_000002.11:202613941::A	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss1369453262	NC_000002.11:202613942::A	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4059248894, ss5251671185, ss5451320016, ss5686777235	NC_000002.12:201749218::A	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
2936087727	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3802321178	NC_000002.12:201749219::A	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3705819463, ss3949882565	NC_000002.12:201749220::A	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss5156030923	NC_000002.11:202613941::AA	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4059248895, ss5686777238	NC_000002.12:201749218::AA	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
2936087727	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
2936087727	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3705819462	NC_000002.12:201749220::AAA	NC_000002.12:201749218:AAAAAAAAAAA… NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)

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

No publications for rs11308291

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

rs11308291