Name: rs11371811
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.

rs11371811

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr18:42758681-42758696 (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(T)₁₁ / delTT / delT / dupT / d…
del(T)₁₁ / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆ / dup(T)₇ / dup(T)₈ / dup(T)₉ / dup(T)₁₀
Variation Type: Indel Insertion and Deletion
Frequency: (T)₁₆=0.4221 (2372/5620, ALFA)
dupT=0.4353 (2180/5008, 1000G)
(T)₁₆=0.45 (18/40, GENOME_DK) (+ 1 more)
dupT=0.4 (3/8, KOREAN)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RIT2 : 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	5620	TTTTTTTTTTTTTTTT=0.4221	TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.5644, TTTTTTTTTTTTTTTTTT=0.0080, TTTTTTTTTTTTTTTTTTTTTT=0.0030, TTTTTTTTTTTTTTTTTTTTT=0.0009, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0007, TTTTTTTTTTTTTTTTTTTTTTT=0.0009, TTTTTTTTTTTTTTTTTTT=0.0000
European	Sub	4624	TTTTTTTTTTTTTTTT=0.2989	TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.6847, TTTTTTTTTTTTTTTTTT=0.0097, TTTTTTTTTTTTTTTTTTTTTT=0.0037, TTTTTTTTTTTTTTTTTTTTT=0.0011, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0009, TTTTTTTTTTTTTTTTTTTTTTT=0.0011, TTTTTTTTTTTTTTTTTTT=0.0000
African	Sub	836	TTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000
African Others	Sub	40	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00
African American	Sub	796	TTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000
Asian	Sub	10	TTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0
East Asian	Sub	10	TTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0
Other Asian	Sub	0	TTTTTTTTTTTTTTTT=0	TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0
Latin American 1	Sub	12	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00
Latin American 2	Sub	60	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00
South Asian	Sub	14	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00
Other	Sub	64	TTTTTTTTTTTTTTTT=0.91	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.09, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	5620	(T)₁₆=0.4221	delTT=0.0000, delT=0.0000, dupT=0.5644, dupTT=0.0080, dupTTT=0.0000, dup(T)₅=0.0009, dup(T)₆=0.0030, dup(T)₇=0.0009, dup(T)₉=0.0007
Allele Frequency Aggregator	European	Sub	4624	(T)₁₆=0.2989	delTT=0.0000, delT=0.0000, dupT=0.6847, dupTT=0.0097, dupTTT=0.0000, dup(T)₅=0.0011, dup(T)₆=0.0037, dup(T)₇=0.0011, dup(T)₉=0.0009
Allele Frequency Aggregator	African	Sub	836	(T)₁₆=1.000	delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₅=0.000, dup(T)₆=0.000, dup(T)₇=0.000, dup(T)₉=0.000
Allele Frequency Aggregator	Other	Sub	64	(T)₁₆=0.91	delTT=0.00, delT=0.00, dupT=0.09, dupTT=0.00, dupTTT=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00, dup(T)₉=0.00
Allele Frequency Aggregator	Latin American 2	Sub	60	(T)₁₆=1.00	delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00, dup(T)₉=0.00
Allele Frequency Aggregator	South Asian	Sub	14	(T)₁₆=1.00	delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00, dup(T)₉=0.00
Allele Frequency Aggregator	Latin American 1	Sub	12	(T)₁₆=1.00	delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00, dup(T)₉=0.00
Allele Frequency Aggregator	Asian	Sub	10	(T)₁₆=1.0	delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)₅=0.0, dup(T)₆=0.0, dup(T)₇=0.0, dup(T)₉=0.0
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupT=0.4353
1000Genomes	African	Sub	1322	- No frequency provided	dupT=0.1747
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupT=0.5020
1000Genomes	Europe	Sub	1006	- No frequency provided	dupT=0.5765
1000Genomes	South Asian	Sub	978	- No frequency provided	dupT=0.515
1000Genomes	American	Sub	694	- No frequency provided	dupT=0.517
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupT=0.55
KOREAN population from KRGDB	KOREAN	Study-wide	8	- No frequency provided	dupT=0.4

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 18	NC_000018.10:g.42758686_42758696del
GRCh38.p14 chr 18	NC_000018.10:g.42758695_42758696del
GRCh38.p14 chr 18	NC_000018.10:g.42758696del
GRCh38.p14 chr 18	NC_000018.10:g.42758696dup
GRCh38.p14 chr 18	NC_000018.10:g.42758695_42758696dup
GRCh38.p14 chr 18	NC_000018.10:g.42758694_42758696dup
GRCh38.p14 chr 18	NC_000018.10:g.42758693_42758696dup
GRCh38.p14 chr 18	NC_000018.10:g.42758692_42758696dup
GRCh38.p14 chr 18	NC_000018.10:g.42758691_42758696dup
GRCh38.p14 chr 18	NC_000018.10:g.42758690_42758696dup
GRCh38.p14 chr 18	NC_000018.10:g.42758689_42758696dup
GRCh38.p14 chr 18	NC_000018.10:g.42758688_42758696dup
GRCh38.p14 chr 18	NC_000018.10:g.42758687_42758696dup
GRCh37.p13 chr 18	NC_000018.9:g.40338651_40338661del
GRCh37.p13 chr 18	NC_000018.9:g.40338660_40338661del
GRCh37.p13 chr 18	NC_000018.9:g.40338661del
GRCh37.p13 chr 18	NC_000018.9:g.40338661dup
GRCh37.p13 chr 18	NC_000018.9:g.40338660_40338661dup
GRCh37.p13 chr 18	NC_000018.9:g.40338659_40338661dup
GRCh37.p13 chr 18	NC_000018.9:g.40338658_40338661dup
GRCh37.p13 chr 18	NC_000018.9:g.40338657_40338661dup
GRCh37.p13 chr 18	NC_000018.9:g.40338656_40338661dup
GRCh37.p13 chr 18	NC_000018.9:g.40338655_40338661dup
GRCh37.p13 chr 18	NC_000018.9:g.40338654_40338661dup
GRCh37.p13 chr 18	NC_000018.9:g.40338653_40338661dup
GRCh37.p13 chr 18	NC_000018.9:g.40338652_40338661dup

Gene: RIT2, Ras like without CAAX 2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RIT2 transcript variant 2	NM_001272077.2:c.29-1497… NM_001272077.2:c.29-14971_*29-14961del	N/A	Intron Variant
RIT2 transcript variant 1	NM_002930.4:c.427-14971_4… NM_002930.4:c.427-14971_427-14961del	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	(T)₁₆=	del(T)₁₁	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₇	dup(T)₈	dup(T)₉	dup(T)₁₀
GRCh38.p14 chr 18	NC_000018.10:g.42758681_42758696=	NC_000018.10:g.42758686_42758696del	NC_000018.10:g.42758695_42758696del	NC_000018.10:g.42758696del	NC_000018.10:g.42758696dup	NC_000018.10:g.42758695_42758696dup	NC_000018.10:g.42758694_42758696dup	NC_000018.10:g.42758693_42758696dup	NC_000018.10:g.42758692_42758696dup	NC_000018.10:g.42758691_42758696dup	NC_000018.10:g.42758690_42758696dup	NC_000018.10:g.42758689_42758696dup	NC_000018.10:g.42758688_42758696dup	NC_000018.10:g.42758687_42758696dup
GRCh37.p13 chr 18	NC_000018.9:g.40338646_40338661=	NC_000018.9:g.40338651_40338661del	NC_000018.9:g.40338660_40338661del	NC_000018.9:g.40338661del	NC_000018.9:g.40338661dup	NC_000018.9:g.40338660_40338661dup	NC_000018.9:g.40338659_40338661dup	NC_000018.9:g.40338658_40338661dup	NC_000018.9:g.40338657_40338661dup	NC_000018.9:g.40338656_40338661dup	NC_000018.9:g.40338655_40338661dup	NC_000018.9:g.40338654_40338661dup	NC_000018.9:g.40338653_40338661dup	NC_000018.9:g.40338652_40338661dup
RIT2 transcript variant 2	NM_001272077.1:c.*29-14961=	NM_001272077.1:c.29-14971_29-14961del	NM_001272077.1:c.29-14962_29-14961del	NM_001272077.1:c.*29-14961del	NM_001272077.1:c.*29-14961dup	NM_001272077.1:c.29-14962_29-14961dup	NM_001272077.1:c.29-14963_29-14961dup	NM_001272077.1:c.29-14964_29-14961dup	NM_001272077.1:c.29-14965_29-14961dup	NM_001272077.1:c.29-14966_29-14961dup	NM_001272077.1:c.29-14967_29-14961dup	NM_001272077.1:c.29-14968_29-14961dup	NM_001272077.1:c.29-14969_29-14961dup	NM_001272077.1:c.29-14970_29-14961dup
RIT2 transcript variant 2	NM_001272077.2:c.*29-14961=	NM_001272077.2:c.29-14971_29-14961del	NM_001272077.2:c.29-14962_29-14961del	NM_001272077.2:c.*29-14961del	NM_001272077.2:c.*29-14961dup	NM_001272077.2:c.29-14962_29-14961dup	NM_001272077.2:c.29-14963_29-14961dup	NM_001272077.2:c.29-14964_29-14961dup	NM_001272077.2:c.29-14965_29-14961dup	NM_001272077.2:c.29-14966_29-14961dup	NM_001272077.2:c.29-14967_29-14961dup	NM_001272077.2:c.29-14968_29-14961dup	NM_001272077.2:c.29-14969_29-14961dup	NM_001272077.2:c.29-14970_29-14961dup
RIT2 transcript variant 1	NM_002930.3:c.427-14961=	NM_002930.3:c.427-14971_427-14961del	NM_002930.3:c.427-14962_427-14961del	NM_002930.3:c.427-14961del	NM_002930.3:c.427-14961dup	NM_002930.3:c.427-14962_427-14961dup	NM_002930.3:c.427-14963_427-14961dup	NM_002930.3:c.427-14964_427-14961dup	NM_002930.3:c.427-14965_427-14961dup	NM_002930.3:c.427-14966_427-14961dup	NM_002930.3:c.427-14967_427-14961dup	NM_002930.3:c.427-14968_427-14961dup	NM_002930.3:c.427-14969_427-14961dup	NM_002930.3:c.427-14970_427-14961dup
RIT2 transcript variant 1	NM_002930.4:c.427-14961=	NM_002930.4:c.427-14971_427-14961del	NM_002930.4:c.427-14962_427-14961del	NM_002930.4:c.427-14961del	NM_002930.4:c.427-14961dup	NM_002930.4:c.427-14962_427-14961dup	NM_002930.4:c.427-14963_427-14961dup	NM_002930.4:c.427-14964_427-14961dup	NM_002930.4:c.427-14965_427-14961dup	NM_002930.4:c.427-14966_427-14961dup	NM_002930.4:c.427-14967_427-14961dup	NM_002930.4:c.427-14968_427-14961dup	NM_002930.4:c.427-14969_427-14961dup	NM_002930.4:c.427-14970_427-14961dup
RIT2 transcript variant X1	XM_005258327.1:c.370-14961=	XM_005258327.1:c.370-14971_370-14961del	XM_005258327.1:c.370-14962_370-14961del	XM_005258327.1:c.370-14961del	XM_005258327.1:c.370-14961dup	XM_005258327.1:c.370-14962_370-14961dup	XM_005258327.1:c.370-14963_370-14961dup	XM_005258327.1:c.370-14964_370-14961dup	XM_005258327.1:c.370-14965_370-14961dup	XM_005258327.1:c.370-14966_370-14961dup	XM_005258327.1:c.370-14967_370-14961dup	XM_005258327.1:c.370-14968_370-14961dup	XM_005258327.1:c.370-14969_370-14961dup	XM_005258327.1:c.370-14970_370-14961dup

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#.

65 SubSNP, 33 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40879178	Mar 13, 2006 (126)
2	HGSV	ss81721837	Dec 04, 2013 (138)
3	HUMANGENOME_JCVI	ss95710388	Feb 03, 2009 (130)
4	PJP	ss294938286	May 09, 2011 (137)
5	PJP	ss294938287	May 09, 2011 (135)
6	SSMP	ss664399011	Apr 01, 2015 (144)
7	1000GENOMES	ss1377408957	Aug 21, 2014 (142)
8	EVA_GENOME_DK	ss1575145657	Apr 01, 2015 (144)
9	EVA_UK10K_ALSPAC	ss1708976541	Apr 01, 2015 (144)
10	EVA_UK10K_ALSPAC	ss1708976542	Apr 01, 2015 (144)
11	EVA_UK10K_ALSPAC	ss1708976544	Apr 01, 2015 (144)
12	EVA_UK10K_TWINSUK	ss1708976749	Apr 01, 2015 (144)
13	EVA_UK10K_TWINSUK	ss1708976751	Apr 01, 2015 (144)
14	EVA_UK10K_TWINSUK	ss1708976754	Apr 01, 2015 (144)
15	HAMMER_LAB	ss1809034902	Sep 08, 2015 (146)
16	SWEGEN	ss3016467795	Nov 08, 2017 (151)
17	URBANLAB	ss3650782726	Oct 12, 2018 (152)
18	EVA_DECODE	ss3701587312	Jul 13, 2019 (153)
19	EVA_DECODE	ss3701587313	Jul 13, 2019 (153)
20	EVA_DECODE	ss3701587314	Jul 13, 2019 (153)
21	ACPOP	ss3742511620	Jul 13, 2019 (153)
22	ACPOP	ss3742511621	Jul 13, 2019 (153)
23	ACPOP	ss3742511622	Jul 13, 2019 (153)
24	ACPOP	ss3742511623	Jul 13, 2019 (153)
25	ACPOP	ss3742511624	Jul 13, 2019 (153)
26	PACBIO	ss3788360487	Jul 13, 2019 (153)
27	PACBIO	ss3793293003	Jul 13, 2019 (153)
28	PACBIO	ss3798179349	Jul 13, 2019 (153)
29	KHV_HUMAN_GENOMES	ss3820607628	Jul 13, 2019 (153)
30	EVA	ss3835150860	Apr 27, 2020 (154)
31	EVA	ss3841192609	Apr 27, 2020 (154)
32	EVA	ss3846694606	Apr 27, 2020 (154)
33	KRGDB	ss3936806761	Apr 27, 2020 (154)
34	GNOMAD	ss4321406180	Apr 26, 2021 (155)
35	GNOMAD	ss4321406181	Apr 26, 2021 (155)
36	GNOMAD	ss4321406182	Apr 26, 2021 (155)
37	GNOMAD	ss4321406183	Apr 26, 2021 (155)
38	GNOMAD	ss4321406184	Apr 26, 2021 (155)
39	GNOMAD	ss4321406185	Apr 26, 2021 (155)
40	GNOMAD	ss4321406186	Apr 26, 2021 (155)
41	GNOMAD	ss4321406187	Apr 26, 2021 (155)
42	GNOMAD	ss4321406188	Apr 26, 2021 (155)
43	GNOMAD	ss4321406189	Apr 26, 2021 (155)
44	GNOMAD	ss4321406190	Apr 26, 2021 (155)
45	GNOMAD	ss4321406191	Apr 26, 2021 (155)
46	TOMMO_GENOMICS	ss5225009392	Apr 26, 2021 (155)
47	TOMMO_GENOMICS	ss5225009393	Apr 26, 2021 (155)
48	TOMMO_GENOMICS	ss5225009394	Apr 26, 2021 (155)
49	1000G_HIGH_COVERAGE	ss5305169185	Oct 16, 2022 (156)
50	1000G_HIGH_COVERAGE	ss5305169186	Oct 16, 2022 (156)
51	1000G_HIGH_COVERAGE	ss5305169187	Oct 16, 2022 (156)
52	1000G_HIGH_COVERAGE	ss5305169188	Oct 16, 2022 (156)
53	HUGCELL_USP	ss5497952497	Oct 16, 2022 (156)
54	HUGCELL_USP	ss5497952498	Oct 16, 2022 (156)
55	HUGCELL_USP	ss5497952499	Oct 16, 2022 (156)
56	TOMMO_GENOMICS	ss5782754481	Oct 16, 2022 (156)
57	TOMMO_GENOMICS	ss5782754482	Oct 16, 2022 (156)
58	TOMMO_GENOMICS	ss5782754483	Oct 16, 2022 (156)
59	YY_MCH	ss5817065318	Oct 16, 2022 (156)
60	EVA	ss5827493987	Oct 16, 2022 (156)
61	EVA	ss5827493988	Oct 16, 2022 (156)
62	EVA	ss5827493989	Oct 16, 2022 (156)
63	EVA	ss5827493990	Oct 16, 2022 (156)
64	EVA	ss5852037623	Oct 16, 2022 (156)
65	EVA	ss5873936779	Oct 16, 2022 (156)
66	1000Genomes	NC_000018.9 - 40338646	Oct 12, 2018 (152)
67	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 41108861 (NC_000018.9:40338645::T 2920/3854) Row 41108862 (NC_000018.9:40338645::TTT 112/3854) Row 41108863 (NC_000018.9:40338645::TT 251/3854)	-	Oct 12, 2018 (152)
68	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 41108861 (NC_000018.9:40338645::T 2920/3854) Row 41108862 (NC_000018.9:40338645::TTT 112/3854) Row 41108863 (NC_000018.9:40338645::TT 251/3854)	-	Oct 12, 2018 (152)
69	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 41108861 (NC_000018.9:40338645::T 2920/3854) Row 41108862 (NC_000018.9:40338645::TTT 112/3854) Row 41108863 (NC_000018.9:40338645::TT 251/3854)	-	Oct 12, 2018 (152)
70	The Danish reference pan genome	NC_000018.9 - 40338646	Apr 27, 2020 (154)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 523498059 (NC_000018.10:42758680::T 81619/128536) Row 523498060 (NC_000018.10:42758680::TT 1873/128598) Row 523498061 (NC_000018.10:42758680::TTT 2/128652)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 523498059 (NC_000018.10:42758680::T 81619/128536) Row 523498060 (NC_000018.10:42758680::TT 1873/128598) Row 523498061 (NC_000018.10:42758680::TTT 2/128652)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 523498059 (NC_000018.10:42758680::T 81619/128536) Row 523498060 (NC_000018.10:42758680::TT 1873/128598) Row 523498061 (NC_000018.10:42758680::TTT 2/128652)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 523498059 (NC_000018.10:42758680::T 81619/128536) Row 523498060 (NC_000018.10:42758680::TT 1873/128598) Row 523498061 (NC_000018.10:42758680::TTT 2/128652)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 523498059 (NC_000018.10:42758680::T 81619/128536) Row 523498060 (NC_000018.10:42758680::TT 1873/128598) Row 523498061 (NC_000018.10:42758680::TTT 2/128652)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 523498059 (NC_000018.10:42758680::T 81619/128536) Row 523498060 (NC_000018.10:42758680::TT 1873/128598) Row 523498061 (NC_000018.10:42758680::TTT 2/128652)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 523498059 (NC_000018.10:42758680::T 81619/128536) Row 523498060 (NC_000018.10:42758680::TT 1873/128598) Row 523498061 (NC_000018.10:42758680::TTT 2/128652)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 523498059 (NC_000018.10:42758680::T 81619/128536) Row 523498060 (NC_000018.10:42758680::TT 1873/128598) Row 523498061 (NC_000018.10:42758680::TTT 2/128652)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 523498059 (NC_000018.10:42758680::T 81619/128536) Row 523498060 (NC_000018.10:42758680::TT 1873/128598) Row 523498061 (NC_000018.10:42758680::TTT 2/128652)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 523498059 (NC_000018.10:42758680::T 81619/128536) Row 523498060 (NC_000018.10:42758680::TT 1873/128598) Row 523498061 (NC_000018.10:42758680::TTT 2/128652)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 523498059 (NC_000018.10:42758680::T 81619/128536) Row 523498060 (NC_000018.10:42758680::TT 1873/128598) Row 523498061 (NC_000018.10:42758680::TTT 2/128652)...	-	Apr 26, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 523498059 (NC_000018.10:42758680::T 81619/128536) Row 523498060 (NC_000018.10:42758680::TT 1873/128598) Row 523498061 (NC_000018.10:42758680::TTT 2/128652)...	-	Apr 26, 2021 (155)
83	KOREAN population from KRGDB	NC_000018.9 - 40338646	Apr 27, 2020 (154)
84	Northern Sweden Submission ignored due to conflicting rows: Row 15796485 (NC_000018.9:40338645::T 397/594) Row 15796486 (NC_000018.9:40338645::TTTTTTT 14/594) Row 15796487 (NC_000018.9:40338645::TT 18/594)...	-	Jul 13, 2019 (153)
85	Northern Sweden Submission ignored due to conflicting rows: Row 15796485 (NC_000018.9:40338645::T 397/594) Row 15796486 (NC_000018.9:40338645::TTTTTTT 14/594) Row 15796487 (NC_000018.9:40338645::TT 18/594)...	-	Jul 13, 2019 (153)
86	Northern Sweden Submission ignored due to conflicting rows: Row 15796485 (NC_000018.9:40338645::T 397/594) Row 15796486 (NC_000018.9:40338645::TTTTTTT 14/594) Row 15796487 (NC_000018.9:40338645::TT 18/594)...	-	Jul 13, 2019 (153)
87	Northern Sweden Submission ignored due to conflicting rows: Row 15796485 (NC_000018.9:40338645::T 397/594) Row 15796486 (NC_000018.9:40338645::TTTTTTT 14/594) Row 15796487 (NC_000018.9:40338645::TT 18/594)...	-	Jul 13, 2019 (153)
88	Northern Sweden Submission ignored due to conflicting rows: Row 15796485 (NC_000018.9:40338645::T 397/594) Row 15796486 (NC_000018.9:40338645::TTTTTTT 14/594) Row 15796487 (NC_000018.9:40338645::TT 18/594)...	-	Jul 13, 2019 (153)
89	8.3KJPN Submission ignored due to conflicting rows: Row 82978699 (NC_000018.9:40338645::T 8982/16752) Row 82978700 (NC_000018.9:40338645::TT 52/16752) Row 82978701 (NC_000018.9:40338645:T: 4/16752)	-	Apr 26, 2021 (155)
90	8.3KJPN Submission ignored due to conflicting rows: Row 82978699 (NC_000018.9:40338645::T 8982/16752) Row 82978700 (NC_000018.9:40338645::TT 52/16752) Row 82978701 (NC_000018.9:40338645:T: 4/16752)	-	Apr 26, 2021 (155)
91	8.3KJPN Submission ignored due to conflicting rows: Row 82978699 (NC_000018.9:40338645::T 8982/16752) Row 82978700 (NC_000018.9:40338645::TT 52/16752) Row 82978701 (NC_000018.9:40338645:T: 4/16752)	-	Apr 26, 2021 (155)
92	14KJPN Submission ignored due to conflicting rows: Row 116591585 (NC_000018.10:42758680::T 14015/28020) Row 116591586 (NC_000018.10:42758680::TT 73/28020) Row 116591587 (NC_000018.10:42758680:T: 7/28020)	-	Oct 16, 2022 (156)
93	14KJPN Submission ignored due to conflicting rows: Row 116591585 (NC_000018.10:42758680::T 14015/28020) Row 116591586 (NC_000018.10:42758680::TT 73/28020) Row 116591587 (NC_000018.10:42758680:T: 7/28020)	-	Oct 16, 2022 (156)
94	14KJPN Submission ignored due to conflicting rows: Row 116591585 (NC_000018.10:42758680::T 14015/28020) Row 116591586 (NC_000018.10:42758680::TT 73/28020) Row 116591587 (NC_000018.10:42758680:T: 7/28020)	-	Oct 16, 2022 (156)
95	UK 10K study - Twins Submission ignored due to conflicting rows: Row 41108861 (NC_000018.9:40338645::T 2784/3708) Row 41108862 (NC_000018.9:40338645::TTT 92/3708) Row 41108863 (NC_000018.9:40338645::TT 264/3708)	-	Oct 12, 2018 (152)
96	UK 10K study - Twins Submission ignored due to conflicting rows: Row 41108861 (NC_000018.9:40338645::T 2784/3708) Row 41108862 (NC_000018.9:40338645::TTT 92/3708) Row 41108863 (NC_000018.9:40338645::TT 264/3708)	-	Oct 12, 2018 (152)
97	UK 10K study - Twins Submission ignored due to conflicting rows: Row 41108861 (NC_000018.9:40338645::T 2784/3708) Row 41108862 (NC_000018.9:40338645::TTT 92/3708) Row 41108863 (NC_000018.9:40338645::TT 264/3708)	-	Oct 12, 2018 (152)
98	ALFA	NC_000018.10 - 42758681	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)
rs35412317	May 11, 2012 (137)
rs57131429	May 23, 2008 (130)
rs67721339	Apr 25, 2013 (138)
rs67721340	Feb 27, 2009 (130)
rs67721341	Feb 27, 2009 (130)
rs72356979	May 11, 2012 (137)
rs140566709	Sep 17, 2011 (135)
rs147219268	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4321406191	NC_000018.10:42758680:TTTTTTTTTTT:	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTT	(self)
ss4321406190, ss5305169187	NC_000018.10:42758680:TT:	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
2848079584	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss3016467795, ss5225009394	NC_000018.9:40338645:T:	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3701587312, ss4321406189, ss5305169186, ss5497952499, ss5782754483	NC_000018.10:42758680:T:	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
2848079584	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss294938286	NC_000018.8:38592644::T	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss294938287	NC_000018.8:38592659::T	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
74204771, 596187, 43984155, ss664399011, ss1377408957, ss1575145657, ss1708976541, ss1708976749, ss1809034902, ss3742511620, ss3788360487, ss3793293003, ss3798179349, ss3835150860, ss3841192609, ss3936806761, ss5225009392, ss5827493987	NC_000018.9:40338645::T	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3650782726, ss3820607628, ss3846694606, ss4321406180, ss5305169185, ss5497952497, ss5782754481, ss5817065318, ss5852037623, ss5873936779	NC_000018.10:42758680::T	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
2848079584	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3701587313	NC_000018.10:42758681::T	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss40879178, ss81721837, ss95710388	NT_010966.14:21827763::T	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss1708976544, ss1708976754, ss3742511622, ss5225009393, ss5827493988	NC_000018.9:40338645::TT	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4321406181, ss5305169188, ss5497952498, ss5782754482	NC_000018.10:42758680::TT	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
2848079584	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3701587314	NC_000018.10:42758681::TT	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss1708976542, ss1708976751, ss5827493989	NC_000018.9:40338645::TTT	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4321406182	NC_000018.10:42758680::TTT	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
2848079584	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4321406183	NC_000018.10:42758680::TTTT	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4321406184	NC_000018.10:42758680::TTTTT	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
2848079584	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3742511623	NC_000018.9:40338645::TTTTTT	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4321406185	NC_000018.10:42758680::TTTTTT	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
2848079584	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3742511621	NC_000018.9:40338645::TTTTTTT	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4321406186	NC_000018.10:42758680::TTTTTTT	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
2848079584	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3742511624	NC_000018.9:40338645::TTTTTTTT	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4321406187	NC_000018.10:42758680::TTTTTTTT	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
2848079584	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5827493990	NC_000018.9:40338645::TTTTTTTTTT	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
ss4321406188	NC_000018.10:42758680::TTTTTTTTTT	NC_000018.10:42758680:TTTTTTTTTTTT… NC_000018.10:42758680:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs11371811

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

rs11371811