Name: rs3075191
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.

rs3075191

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:10578844-10578853 (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: delCT / dupCT / dupCTCT / dup(CT)₃
Variation Type: Indel Insertion and Deletion
Frequency: (CT)₅=0.31485 (8897/28258, 14KJPN)
(CT)₅=0.31382 (5259/16758, 8.3KJPN)
dupCTCT=0.2233 (1897/8496, ALFA) (+ 5 more)
dupCTCT=0.4489 (2248/5008, 1000G)
dupCTCT=0.4223 (1892/4480, Estonian)
dupCTCT=0.435 (434/998, GoNL)
dupCTCT=0.463 (278/600, NorthernSweden)
dupCTCT=0.42 (17/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: IRAG1 : Intron Variant
IRAG1-AS1 : 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	8496	CTCTCTCTCT=0.7767	CTCTCTCT=0.0000, CTCTCTCTCTCT=0.0000, CTCTCTCTCTCTCT=0.2233, CTCTCTCTCTCTCTCT=0.0000	0.648305	0.094868	0.256827	32
European	Sub	7024	CTCTCTCTCT=0.7304	CTCTCTCT=0.0000, CTCTCTCTCTCT=0.0000, CTCTCTCTCTCTCT=0.2696, CTCTCTCTCTCTCTCT=0.0000	0.575456	0.114749	0.309795	32
African	Sub	1052	CTCTCTCTCT=1.0000	CTCTCTCT=0.0000, CTCTCTCTCTCT=0.0000, CTCTCTCTCTCTCT=0.0000, CTCTCTCTCTCTCTCT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	42	CTCTCTCTCT=1.00	CTCTCTCT=0.00, CTCTCTCTCTCT=0.00, CTCTCTCTCTCTCT=0.00, CTCTCTCTCTCTCTCT=0.00	1.0	0.0	0.0	N/A
African American	Sub	1010	CTCTCTCTCT=1.0000	CTCTCTCT=0.0000, CTCTCTCTCTCT=0.0000, CTCTCTCTCTCTCT=0.0000, CTCTCTCTCTCTCTCT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	14	CTCTCTCTCT=1.00	CTCTCTCT=0.00, CTCTCTCTCTCT=0.00, CTCTCTCTCTCTCT=0.00, CTCTCTCTCTCTCTCT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	12	CTCTCTCTCT=1.00	CTCTCTCT=0.00, CTCTCTCTCTCT=0.00, CTCTCTCTCTCTCT=0.00, CTCTCTCTCTCTCTCT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	2	CTCTCTCTCT=1.0	CTCTCTCT=0.0, CTCTCTCTCTCT=0.0, CTCTCTCTCTCTCT=0.0, CTCTCTCTCTCTCTCT=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	64	CTCTCTCTCT=1.00	CTCTCTCT=0.00, CTCTCTCTCTCT=0.00, CTCTCTCTCTCTCT=0.00, CTCTCTCTCTCTCTCT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	132	CTCTCTCTCT=1.000	CTCTCTCT=0.000, CTCTCTCTCTCT=0.000, CTCTCTCTCTCTCT=0.000, CTCTCTCTCTCTCTCT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	44	CTCTCTCTCT=1.00	CTCTCTCT=0.00, CTCTCTCTCTCT=0.00, CTCTCTCTCTCTCT=0.00, CTCTCTCTCTCTCTCT=0.00	1.0	0.0	0.0	N/A
Other	Sub	166	CTCTCTCTCT=0.982	CTCTCTCT=0.000, CTCTCTCTCTCT=0.000, CTCTCTCTCTCTCT=0.018, CTCTCTCTCTCTCTCT=0.000	0.963855	0.0	0.036145	0

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
14KJPN	JAPANESE	Study-wide	28258	- No frequency provided	dupCTCT=0.68515
8.3KJPN	JAPANESE	Study-wide	16758	- No frequency provided	dupCTCT=0.68618
Allele Frequency Aggregator	Total	Global	8496	(CT)₅=0.7767	delCT=0.0000, dupCT=0.0000, dupCTCT=0.2233, dup(CT)₃=0.0000
Allele Frequency Aggregator	European	Sub	7024	(CT)₅=0.7304	delCT=0.0000, dupCT=0.0000, dupCTCT=0.2696, dup(CT)₃=0.0000
Allele Frequency Aggregator	African	Sub	1052	(CT)₅=1.0000	delCT=0.0000, dupCT=0.0000, dupCTCT=0.0000, dup(CT)₃=0.0000
Allele Frequency Aggregator	Other	Sub	166	(CT)₅=0.982	delCT=0.000, dupCT=0.000, dupCTCT=0.018, dup(CT)₃=0.000
Allele Frequency Aggregator	Latin American 2	Sub	132	(CT)₅=1.000	delCT=0.000, dupCT=0.000, dupCTCT=0.000, dup(CT)₃=0.000
Allele Frequency Aggregator	Latin American 1	Sub	64	(CT)₅=1.00	delCT=0.00, dupCT=0.00, dupCTCT=0.00, dup(CT)₃=0.00
Allele Frequency Aggregator	South Asian	Sub	44	(CT)₅=1.00	delCT=0.00, dupCT=0.00, dupCTCT=0.00, dup(CT)₃=0.00
Allele Frequency Aggregator	Asian	Sub	14	(CT)₅=1.00	delCT=0.00, dupCT=0.00, dupCTCT=0.00, dup(CT)₃=0.00
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupCTCT=0.4489
1000Genomes	African	Sub	1322	- No frequency provided	dupCTCT=0.3676
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupCTCT=0.7034
1000Genomes	Europe	Sub	1006	- No frequency provided	dupCTCT=0.4145
1000Genomes	South Asian	Sub	978	- No frequency provided	dupCTCT=0.351
1000Genomes	American	Sub	694	- No frequency provided	dupCTCT=0.422
Genetic variation in the Estonian population	Estonian	Study-wide	4480	- No frequency provided	dupCTCT=0.4223
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	- No frequency provided	dupCTCT=0.435
Northern Sweden	ACPOP	Study-wide	600	- No frequency provided	dupCTCT=0.463
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupCTCT=0.42

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.10578844CT[4]
GRCh38.p14 chr 11	NC_000011.10:g.10578844CT[6]
GRCh38.p14 chr 11	NC_000011.10:g.10578844CT[7]
GRCh38.p14 chr 11	NC_000011.10:g.10578844CT[8]
GRCh37.p13 chr 11	NC_000011.9:g.10600391CT[4]
GRCh37.p13 chr 11	NC_000011.9:g.10600391CT[6]
GRCh37.p13 chr 11	NC_000011.9:g.10600391CT[7]
GRCh37.p13 chr 11	NC_000011.9:g.10600391CT[8]

Gene: IRAG1, inositol 1,4,5-triphosphate receptor associated 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
IRAG1 transcript variant 1	NM_001098579.3:c.2471+160… NM_001098579.3:c.2471+1602AG[4]	N/A	Intron Variant
IRAG1 transcript variant 3	NM_001100163.3:c.2222+160… NM_001100163.3:c.2222+1602AG[4]	N/A	Intron Variant
IRAG1 transcript variant 4	NM_001100167.3:c.1550+160… NM_001100167.3:c.1550+1602AG[4]	N/A	Intron Variant
IRAG1 transcript variant 5	NM_001206880.2:c.1877+160… NM_001206880.2:c.1877+1602AG[4]	N/A	Intron Variant
IRAG1 transcript variant 6	NM_001206881.2:c.1550+160… NM_001206881.2:c.1550+1602AG[4]	N/A	Intron Variant
IRAG1 transcript variant 2	NM_130385.4:c.2495+1602AG… NM_130385.4:c.2495+1602AG[4]	N/A	Intron Variant

Gene: IRAG1-AS1, IRAG1 antisense RNA 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
IRAG1-AS1 transcript variant 3	NR_034093.2:n.	N/A	Intron Variant
IRAG1-AS1 transcript variant 4	NR_034094.2:n.	N/A	Intron Variant
IRAG1-AS1 transcript variant 1	NR_046374.1:n.	N/A	Intron Variant
IRAG1-AS1 transcript variant 2	NR_046375.1:n.	N/A	Intron 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	(CT)₅=	delCT	dupCT	dupCTCT	dup(CT)₃
GRCh38.p14 chr 11	NC_000011.10:g.10578844_10578853=	NC_000011.10:g.10578844CT[4]	NC_000011.10:g.10578844CT[6]	NC_000011.10:g.10578844CT[7]	NC_000011.10:g.10578844CT[8]
GRCh37.p13 chr 11	NC_000011.9:g.10600391_10600400=	NC_000011.9:g.10600391CT[4]	NC_000011.9:g.10600391CT[6]	NC_000011.9:g.10600391CT[7]	NC_000011.9:g.10600391CT[8]
IRAG1 transcript variant 1	NM_001098579.2:c.2471+1611=	NM_001098579.2:c.2471+1602AG[4]	NM_001098579.2:c.2471+1602AG[6]	NM_001098579.2:c.2471+1602AG[7]	NM_001098579.2:c.2471+1602AG[8]
IRAG1 transcript variant 1	NM_001098579.3:c.2471+1611=	NM_001098579.3:c.2471+1602AG[4]	NM_001098579.3:c.2471+1602AG[6]	NM_001098579.3:c.2471+1602AG[7]	NM_001098579.3:c.2471+1602AG[8]
IRAG1 transcript variant 3	NM_001100163.2:c.2222+1611=	NM_001100163.2:c.2222+1602AG[4]	NM_001100163.2:c.2222+1602AG[6]	NM_001100163.2:c.2222+1602AG[7]	NM_001100163.2:c.2222+1602AG[8]
IRAG1 transcript variant 3	NM_001100163.3:c.2222+1611=	NM_001100163.3:c.2222+1602AG[4]	NM_001100163.3:c.2222+1602AG[6]	NM_001100163.3:c.2222+1602AG[7]	NM_001100163.3:c.2222+1602AG[8]
IRAG1 transcript variant 4	NM_001100167.2:c.1550+1611=	NM_001100167.2:c.1550+1602AG[4]	NM_001100167.2:c.1550+1602AG[6]	NM_001100167.2:c.1550+1602AG[7]	NM_001100167.2:c.1550+1602AG[8]
IRAG1 transcript variant 4	NM_001100167.3:c.1550+1611=	NM_001100167.3:c.1550+1602AG[4]	NM_001100167.3:c.1550+1602AG[6]	NM_001100167.3:c.1550+1602AG[7]	NM_001100167.3:c.1550+1602AG[8]
IRAG1 transcript variant 5	NM_001206880.1:c.1877+1611=	NM_001206880.1:c.1877+1602AG[4]	NM_001206880.1:c.1877+1602AG[6]	NM_001206880.1:c.1877+1602AG[7]	NM_001206880.1:c.1877+1602AG[8]
IRAG1 transcript variant 5	NM_001206880.2:c.1877+1611=	NM_001206880.2:c.1877+1602AG[4]	NM_001206880.2:c.1877+1602AG[6]	NM_001206880.2:c.1877+1602AG[7]	NM_001206880.2:c.1877+1602AG[8]
IRAG1 transcript variant 6	NM_001206881.1:c.1550+1611=	NM_001206881.1:c.1550+1602AG[4]	NM_001206881.1:c.1550+1602AG[6]	NM_001206881.1:c.1550+1602AG[7]	NM_001206881.1:c.1550+1602AG[8]
IRAG1 transcript variant 6	NM_001206881.2:c.1550+1611=	NM_001206881.2:c.1550+1602AG[4]	NM_001206881.2:c.1550+1602AG[6]	NM_001206881.2:c.1550+1602AG[7]	NM_001206881.2:c.1550+1602AG[8]
IRAG1 transcript variant 2	NM_130385.3:c.2495+1611=	NM_130385.3:c.2495+1602AG[4]	NM_130385.3:c.2495+1602AG[6]	NM_130385.3:c.2495+1602AG[7]	NM_130385.3:c.2495+1602AG[8]
IRAG1 transcript variant 2	NM_130385.4:c.2495+1611=	NM_130385.4:c.2495+1602AG[4]	NM_130385.4:c.2495+1602AG[6]	NM_130385.4:c.2495+1602AG[7]	NM_130385.4:c.2495+1602AG[8]
MRVI1 transcript variant X1	XM_005252733.1:c.2603+1611=	XM_005252733.1:c.2603+1602AG[4]	XM_005252733.1:c.2603+1602AG[6]	XM_005252733.1:c.2603+1602AG[7]	XM_005252733.1:c.2603+1602AG[8]
MRVI1 transcript variant X2	XM_005252734.1:c.2501+1611=	XM_005252734.1:c.2501+1602AG[4]	XM_005252734.1:c.2501+1602AG[6]	XM_005252734.1:c.2501+1602AG[7]	XM_005252734.1:c.2501+1602AG[8]
MRVI1 transcript variant X3	XM_005252735.1:c.2498+1611=	XM_005252735.1:c.2498+1602AG[4]	XM_005252735.1:c.2498+1602AG[6]	XM_005252735.1:c.2498+1602AG[7]	XM_005252735.1:c.2498+1602AG[8]
MRVI1 transcript variant X4	XM_005252736.1:c.2345+1611=	XM_005252736.1:c.2345+1602AG[4]	XM_005252736.1:c.2345+1602AG[6]	XM_005252736.1:c.2345+1602AG[7]	XM_005252736.1:c.2345+1602AG[8]
MRVI1 transcript variant X5	XM_005252737.1:c.2345+1611=	XM_005252737.1:c.2345+1602AG[4]	XM_005252737.1:c.2345+1602AG[6]	XM_005252737.1:c.2345+1602AG[7]	XM_005252737.1:c.2345+1602AG[8]
MRVI1 transcript variant X6	XM_005252738.1:c.2345+1611=	XM_005252738.1:c.2345+1602AG[4]	XM_005252738.1:c.2345+1602AG[6]	XM_005252738.1:c.2345+1602AG[7]	XM_005252738.1:c.2345+1602AG[8]
MRVI1 transcript variant X7	XM_005252739.1:c.2345+1611=	XM_005252739.1:c.2345+1602AG[4]	XM_005252739.1:c.2345+1602AG[6]	XM_005252739.1:c.2345+1602AG[7]	XM_005252739.1:c.2345+1602AG[8]
MRVI1 transcript variant X8	XM_005252740.1:c.2342+1611=	XM_005252740.1:c.2342+1602AG[4]	XM_005252740.1:c.2342+1602AG[6]	XM_005252740.1:c.2342+1602AG[7]	XM_005252740.1:c.2342+1602AG[8]
MRVI1 transcript variant X9	XM_005252741.1:c.2342+1611=	XM_005252741.1:c.2342+1602AG[4]	XM_005252741.1:c.2342+1602AG[6]	XM_005252741.1:c.2342+1602AG[7]	XM_005252741.1:c.2342+1602AG[8]
MRVI1 transcript variant X10	XM_005252742.1:c.2342+1611=	XM_005252742.1:c.2342+1602AG[4]	XM_005252742.1:c.2342+1602AG[6]	XM_005252742.1:c.2342+1602AG[7]	XM_005252742.1:c.2342+1602AG[8]
MRVI1 transcript variant X11	XM_005252743.1:c.1550+1611=	XM_005252743.1:c.1550+1602AG[4]	XM_005252743.1:c.1550+1602AG[6]	XM_005252743.1:c.1550+1602AG[7]	XM_005252743.1:c.1550+1602AG[8]

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#.

59 SubSNP, 16 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss4306601	Jan 05, 2002 (102)
2	HGSV	ss82252605	Dec 14, 2007 (130)
3	HGSV	ss83591765	Dec 14, 2007 (130)
4	HUMANGENOME_JCVI	ss95972779	Feb 06, 2009 (130)
5	BCMHGSC_JDW	ss103813519	Dec 01, 2009 (131)
6	GMI	ss287869994	May 09, 2011 (138)
7	GMI	ss289052712	May 04, 2012 (138)
8	1000GENOMES	ss327307967	May 09, 2011 (135)
9	1000GENOMES	ss327393176	May 09, 2011 (135)
10	1000GENOMES	ss327792162	May 09, 2011 (135)
11	LUNTER	ss552100404	Apr 25, 2013 (138)
12	LUNTER	ss552348795	Apr 25, 2013 (138)
13	LUNTER	ss553437719	Apr 25, 2013 (138)
14	TISHKOFF	ss561569722	Apr 25, 2013 (138)
15	SSMP	ss664019641	Apr 01, 2015 (144)
16	BILGI_BIOE	ss666524414	Apr 25, 2013 (138)
17	EVA-GONL	ss988205753	Aug 21, 2014 (142)
18	1000GENOMES	ss1370519419	Aug 21, 2014 (142)
19	DDI	ss1536678979	Apr 01, 2015 (144)
20	EVA_GENOME_DK	ss1574305544	Apr 01, 2015 (144)
21	EVA_DECODE	ss1597882425	Apr 01, 2015 (144)
22	EVA_UK10K_ALSPAC	ss1706996091	Apr 01, 2015 (144)
23	EVA_UK10K_ALSPAC	ss1706996093	Apr 01, 2015 (144)
24	EVA_UK10K_TWINSUK	ss1706996373	Apr 01, 2015 (144)
25	EVA_UK10K_TWINSUK	ss1706996374	Apr 01, 2015 (144)
26	HAMMER_LAB	ss1806692042	Sep 08, 2015 (146)
27	GENOMED	ss1967290799	Jul 19, 2016 (147)
28	JJLAB	ss2031059315	Sep 14, 2016 (149)
29	SYSTEMSBIOZJU	ss2627732946	Nov 08, 2017 (151)
30	SWEGEN	ss3007594278	Nov 08, 2017 (151)
31	MCHAISSO	ss3063680227	Nov 08, 2017 (151)
32	BEROUKHIMLAB	ss3644313673	Oct 12, 2018 (152)
33	BIOINF_KMB_FNS_UNIBA	ss3645178513	Oct 12, 2018 (152)
34	URBANLAB	ss3649532746	Oct 12, 2018 (152)
35	EGCUT_WGS	ss3674990261	Jul 13, 2019 (153)
36	EVA_DECODE	ss3691209260	Jul 13, 2019 (153)
37	EVA_DECODE	ss3691209261	Jul 13, 2019 (153)
38	ACPOP	ss3737918253	Jul 13, 2019 (153)
39	PACBIO	ss3786866301	Jul 13, 2019 (153)
40	PACBIO	ss3792019873	Jul 13, 2019 (153)
41	PACBIO	ss3796901898	Jul 13, 2019 (153)
42	KHV_HUMAN_GENOMES	ss3814288110	Jul 13, 2019 (153)
43	EVA	ss3832477015	Apr 26, 2020 (154)
44	EVA	ss3839784855	Apr 26, 2020 (154)
45	EVA	ss3845261274	Apr 26, 2020 (154)
46	GNOMAD	ss4229982889	Apr 26, 2021 (155)
47	GNOMAD	ss4229982890	Apr 26, 2021 (155)
48	GNOMAD	ss4229982891	Apr 26, 2021 (155)
49	GNOMAD	ss4229982894	Apr 26, 2021 (155)
50	TOMMO_GENOMICS	ss5200672394	Apr 26, 2021 (155)
51	1000G_HIGH_COVERAGE	ss5286394053	Oct 16, 2022 (156)
52	HUGCELL_USP	ss5481697119	Oct 16, 2022 (156)
53	SANFORD_IMAGENETICS	ss5650631454	Oct 16, 2022 (156)
54	TOMMO_GENOMICS	ss5747423521	Oct 16, 2022 (156)
55	YY_MCH	ss5812126592	Oct 16, 2022 (156)
56	EVA	ss5836259103	Oct 16, 2022 (156)
57	EVA	ss5836259104	Oct 16, 2022 (156)
58	EVA	ss5849856993	Oct 16, 2022 (156)
59	EVA	ss5918815848	Oct 16, 2022 (156)
60	1000Genomes	NC_000011.9 - 10600391	Oct 12, 2018 (152)
61	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 29207852 (NC_000011.9:10600390::CTCT 1612/3854) Row 29207853 (NC_000011.9:10600390::CT 10/3854)	-	Oct 12, 2018 (152)
62	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 29207852 (NC_000011.9:10600390::CTCT 1612/3854) Row 29207853 (NC_000011.9:10600390::CT 10/3854)	-	Oct 12, 2018 (152)
63	Genetic variation in the Estonian population	NC_000011.9 - 10600391	Oct 12, 2018 (152)
64	The Danish reference pan genome	NC_000011.9 - 10600391	Apr 26, 2020 (154)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 371267318 (NC_000011.10:10578843::CT 12/139528) Row 371267319 (NC_000011.10:10578843::CTCT 59198/139488) Row 371267320 (NC_000011.10:10578843::CTCTCT 11/139546)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 371267318 (NC_000011.10:10578843::CT 12/139528) Row 371267319 (NC_000011.10:10578843::CTCT 59198/139488) Row 371267320 (NC_000011.10:10578843::CTCTCT 11/139546)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 371267318 (NC_000011.10:10578843::CT 12/139528) Row 371267319 (NC_000011.10:10578843::CTCT 59198/139488) Row 371267320 (NC_000011.10:10578843::CTCTCT 11/139546)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 371267318 (NC_000011.10:10578843::CT 12/139528) Row 371267319 (NC_000011.10:10578843::CTCT 59198/139488) Row 371267320 (NC_000011.10:10578843::CTCTCT 11/139546)...	-	Apr 26, 2021 (155)
69	Genome of the Netherlands Release 5	NC_000011.9 - 10600391	Apr 26, 2020 (154)
70	Northern Sweden	NC_000011.9 - 10600391	Jul 13, 2019 (153)
71	8.3KJPN	NC_000011.9 - 10600391	Apr 26, 2021 (155)
72	14KJPN	NC_000011.10 - 10578844	Oct 16, 2022 (156)
73	UK 10K study - Twins Submission ignored due to conflicting rows: Row 29207852 (NC_000011.9:10600390::CTCT 1591/3708) Row 29207853 (NC_000011.9:10600390::CT 6/3708)	-	Oct 12, 2018 (152)
74	UK 10K study - Twins Submission ignored due to conflicting rows: Row 29207852 (NC_000011.9:10600390::CTCT 1591/3708) Row 29207853 (NC_000011.9:10600390::CT 6/3708)	-	Oct 12, 2018 (152)
75	ALFA	NC_000011.10 - 10578844	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)
rs144870266	Sep 17, 2011 (135)
rs57536362	May 26, 2008 (130)
rs142043243	Apr 25, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4229982894	NC_000011.10:10578843:CT:	NC_000011.10:10578843:CTCTCTCTCT:C… NC_000011.10:10578843:CTCTCTCTCT:CTCTCTCT	(self)
888020700	NC_000011.10:10578843:CTCTCTCTCT:C… NC_000011.10:10578843:CTCTCTCTCT:CTCTCTCT	NC_000011.10:10578843:CTCTCTCTCT:C… NC_000011.10:10578843:CTCTCTCTCT:CTCTCTCT	(self)
ss1706996093, ss1706996374, ss5836259104	NC_000011.9:10600390::CT	NC_000011.10:10578843:CTCTCTCTCT:C… NC_000011.10:10578843:CTCTCTCTCT:CTCTCTCTCTCT	(self)
ss3691209261, ss4229982889	NC_000011.10:10578843::CT	NC_000011.10:10578843:CTCTCTCTCT:C… NC_000011.10:10578843:CTCTCTCTCT:CTCTCTCTCTCT	(self)
888020700	NC_000011.10:10578843:CTCTCTCTCT:C… NC_000011.10:10578843:CTCTCTCTCT:CTCTCTCTCTCT	NC_000011.10:10578843:CTCTCTCTCT:C… NC_000011.10:10578843:CTCTCTCTCT:CTCTCTCTCTCT	(self)
ss327307967, ss327393176, ss327792162, ss552100404, ss552348795, ss553437719, ss1597882425	NC_000011.8:10556966::CTCT	NC_000011.10:10578843:CTCTCTCTCT:C… NC_000011.10:10578843:CTCTCTCTCT:CTCTCTCTCTCTCT	(self)
ss289052712	NC_000011.8:10556976::CTCT	NC_000011.10:10578843:CTCTCTCTCT:C… NC_000011.10:10578843:CTCTCTCTCT:CTCTCTCTCTCTCT	(self)
52586445, 20728509, 279255, 13024532, 11203118, 58641701, ss664019641, ss666524414, ss988205753, ss1370519419, ss1536678979, ss1574305544, ss1706996091, ss1706996373, ss1806692042, ss1967290799, ss2031059315, ss2627732946, ss3007594278, ss3644313673, ss3674990261, ss3737918253, ss3786866301, ss3792019873, ss3796901898, ss3832477015, ss3839784855, ss5200672394, ss5650631454, ss5836259103	NC_000011.9:10600390::CTCT	NC_000011.10:10578843:CTCTCTCTCT:C… NC_000011.10:10578843:CTCTCTCTCT:CTCTCTCTCTCTCT	(self)
ss561569722	NC_000011.9:10600400::CTCT	NC_000011.10:10578843:CTCTCTCTCT:C… NC_000011.10:10578843:CTCTCTCTCT:CTCTCTCTCTCTCT	(self)
81260625, ss3063680227, ss3645178513, ss3649532746, ss3691209260, ss3814288110, ss3845261274, ss4229982890, ss5286394053, ss5481697119, ss5747423521, ss5812126592, ss5849856993, ss5918815848	NC_000011.10:10578843::CTCT	NC_000011.10:10578843:CTCTCTCTCT:C… NC_000011.10:10578843:CTCTCTCTCT:CTCTCTCTCTCTCT	(self)
888020700	NC_000011.10:10578843:CTCTCTCTCT:C… NC_000011.10:10578843:CTCTCTCTCT:CTCTCTCTCTCTCT	NC_000011.10:10578843:CTCTCTCTCT:C… NC_000011.10:10578843:CTCTCTCTCT:CTCTCTCTCTCTCT	(self)
ss4306601, ss82252605, ss83591765, ss95972779, ss103813519, ss287869994	NT_009237.18:10540400::CTCT	NC_000011.10:10578843:CTCTCTCTCT:C… NC_000011.10:10578843:CTCTCTCTCT:CTCTCTCTCTCTCT	(self)
ss4229982891	NC_000011.10:10578843::CTCTCT	NC_000011.10:10578843:CTCTCTCTCT:C… NC_000011.10:10578843:CTCTCTCTCT:CTCTCTCTCTCTCTCT	(self)
888020700	NC_000011.10:10578843:CTCTCTCTCT:C… NC_000011.10:10578843:CTCTCTCTCT:CTCTCTCTCTCTCTCT	NC_000011.10:10578843:CTCTCTCTCT:C… NC_000011.10:10578843:CTCTCTCTCT:CTCTCTCTCTCTCTCT	(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 rs3075191

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

rs3075191