Name: rs67486618
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.

rs67486618

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:95912088-95912103 (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)₅ / del(T)₄ / delTTT / delTT…
del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dup(T)₇
Variation Type: Indel Insertion and Deletion
Frequency: (T)₁₆=0.2452 (1228/5008, 1000G)
delTTT=0.2746 (1224/4458, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: MTMR2 : 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	4458	TTTTTTTTTTTTTTTT=0.2672	TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0038, TTTTTTTTTTTTT=0.2746, TTTTTTTTTTTTTTT=0.3324, TTTTTTTTTTTTTTTTT=0.0496, TTTTTTTTTTTTTT=0.0718, TTTTTTTTTTTTTTTTTTTTTTT=0.0007, TTTTTTTTTTTTTTTTTT=0.0000	0.196017	0.32914	0.474843	1
European	Sub	4414	TTTTTTTTTTTTTTTT=0.2612	TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0039, TTTTTTTTTTTTT=0.2771, TTTTTTTTTTTTTTT=0.3346, TTTTTTTTTTTTTTTTT=0.0501, TTTTTTTTTTTTTT=0.0725, TTTTTTTTTTTTTTTTTTTTTTT=0.0007, TTTTTTTTTTTTTTTTTT=0.0000	0.196635	0.328076	0.475289	1
African	Sub	32	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00	0	0	0	N/A
African Others	Sub	0	TTTTTTTTTTTTTTTT=0	TTTTTTTTTTT=0, TTTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
African American	Sub	32	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00	0	0	0	N/A
Asian	Sub	0	TTTTTTTTTTTTTTTT=0	TTTTTTTTTTT=0, TTTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
East Asian	Sub	0	TTTTTTTTTTTTTTTT=0	TTTTTTTTTTT=0, TTTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Other Asian	Sub	0	TTTTTTTTTTTTTTTT=0	TTTTTTTTTTT=0, TTTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Latin American 1	Sub	2	TTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0	0	0	0	N/A
Latin American 2	Sub	0	TTTTTTTTTTTTTTTT=0	TTTTTTTTTTT=0, TTTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
South Asian	Sub	0	TTTTTTTTTTTTTTTT=0	TTTTTTTTTTT=0, TTTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Other	Sub	10	TTTTTTTTTTTTTTTT=0.4	TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.1, TTTTTTTTTTTTTTT=0.5, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0	0.0	0.666667	0.333333	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
1000Genomes	Global	Study-wide	5008	(T)₁₆=0.2452	delT=0.7548
1000Genomes	African	Sub	1322	(T)₁₆=0.4508	delT=0.5492
1000Genomes	East Asian	Sub	1008	(T)₁₆=0.1310	delT=0.8690
1000Genomes	Europe	Sub	1006	(T)₁₆=0.1282	delT=0.8718
1000Genomes	South Asian	Sub	978	(T)₁₆=0.201	delT=0.799
1000Genomes	American	Sub	694	(T)₁₆=0.251	delT=0.749
Allele Frequency Aggregator	Total	Global	4458	(T)₁₆=0.2672	del(T)₅=0.0000, del(T)₄=0.0038, delTTT=0.2746, delTT=0.0718, delT=0.3324, dupT=0.0496, dupTT=0.0000, dup(T)₇=0.0007
Allele Frequency Aggregator	European	Sub	4414	(T)₁₆=0.2612	del(T)₅=0.0000, del(T)₄=0.0039, delTTT=0.2771, delTT=0.0725, delT=0.3346, dupT=0.0501, dupTT=0.0000, dup(T)₇=0.0007
Allele Frequency Aggregator	African	Sub	32	(T)₁₆=1.00	del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dup(T)₇=0.00
Allele Frequency Aggregator	Other	Sub	10	(T)₁₆=0.4	del(T)₅=0.0, del(T)₄=0.0, delTTT=0.1, delTT=0.0, delT=0.5, dupT=0.0, dupTT=0.0, dup(T)₇=0.0
Allele Frequency Aggregator	Latin American 1	Sub	2	(T)₁₆=1.0	del(T)₅=0.0, del(T)₄=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dup(T)₇=0.0
Allele Frequency Aggregator	Latin American 2	Sub	0	(T)₁₆=0	del(T)₅=0, del(T)₄=0, delTTT=0, delTT=0, delT=0, dupT=0, dupTT=0, dup(T)₇=0
Allele Frequency Aggregator	South Asian	Sub	0	(T)₁₆=0	del(T)₅=0, del(T)₄=0, delTTT=0, delTT=0, delT=0, dupT=0, dupTT=0, dup(T)₇=0
Allele Frequency Aggregator	Asian	Sub	0	(T)₁₆=0	del(T)₅=0, del(T)₄=0, delTTT=0, delTT=0, delT=0, dupT=0, dupTT=0, dup(T)₇=0

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.95912099_95912103del
GRCh38.p14 chr 11	NC_000011.10:g.95912100_95912103del
GRCh38.p14 chr 11	NC_000011.10:g.95912101_95912103del
GRCh38.p14 chr 11	NC_000011.10:g.95912102_95912103del
GRCh38.p14 chr 11	NC_000011.10:g.95912103del
GRCh38.p14 chr 11	NC_000011.10:g.95912103dup
GRCh38.p14 chr 11	NC_000011.10:g.95912102_95912103dup
GRCh38.p14 chr 11	NC_000011.10:g.95912097_95912103dup
GRCh37.p13 chr 11	NC_000011.9:g.95645263_95645267del
GRCh37.p13 chr 11	NC_000011.9:g.95645264_95645267del
GRCh37.p13 chr 11	NC_000011.9:g.95645265_95645267del
GRCh37.p13 chr 11	NC_000011.9:g.95645266_95645267del
GRCh37.p13 chr 11	NC_000011.9:g.95645267del
GRCh37.p13 chr 11	NC_000011.9:g.95645267dup
GRCh37.p13 chr 11	NC_000011.9:g.95645266_95645267dup
GRCh37.p13 chr 11	NC_000011.9:g.95645261_95645267dup
MTMR2 RefSeqGene (LRG_257)	NG_008333.1:g.17116_17120del
MTMR2 RefSeqGene (LRG_257)	NG_008333.1:g.17117_17120del
MTMR2 RefSeqGene (LRG_257)	NG_008333.1:g.17118_17120del
MTMR2 RefSeqGene (LRG_257)	NG_008333.1:g.17119_17120del
MTMR2 RefSeqGene (LRG_257)	NG_008333.1:g.17120del
MTMR2 RefSeqGene (LRG_257)	NG_008333.1:g.17120dup
MTMR2 RefSeqGene (LRG_257)	NG_008333.1:g.17119_17120dup
MTMR2 RefSeqGene (LRG_257)	NG_008333.1:g.17114_17120dup

Gene: MTMR2, myotubularin related protein 2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MTMR2 transcript variant 4	NM_001243571.2:c.-333+215… NM_001243571.2:c.-333+2150_-333+2154del	N/A	Intron Variant
MTMR2 transcript variant 1	NM_016156.6:c.80+11783_80… NM_016156.6:c.80+11783_80+11787del	N/A	Intron Variant
MTMR2 transcript variant 2	NM_201278.3:c.-260+2150_-… NM_201278.3:c.-260+2150_-260+2154del	N/A	Intron Variant
MTMR2 transcript variant 3	NM_201281.3:c.-137+2150_-… NM_201281.3:c.-137+2150_-137+2154del	N/A	Intron Variant
MTMR2 transcript variant X2	XM_047427806.1:c.-137+116… XM_047427806.1:c.-137+11600_-137+11604del	N/A	Intron Variant
MTMR2 transcript variant X3	XM_047427807.1:c.-137+215… XM_047427807.1:c.-137+2150_-137+2154del	N/A	Intron Variant
MTMR2 transcript variant X1	XM_047427805.1:c.	N/A	Genic Upstream Transcript Variant
MTMR2 transcript variant X4	XM_047427808.1: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	(T)₁₆=	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dup(T)₇
GRCh38.p14 chr 11	NC_000011.10:g.95912088_95912103=	NC_000011.10:g.95912099_95912103del	NC_000011.10:g.95912100_95912103del	NC_000011.10:g.95912101_95912103del	NC_000011.10:g.95912102_95912103del	NC_000011.10:g.95912103del	NC_000011.10:g.95912103dup	NC_000011.10:g.95912102_95912103dup	NC_000011.10:g.95912097_95912103dup
GRCh37.p13 chr 11	NC_000011.9:g.95645252_95645267=	NC_000011.9:g.95645263_95645267del	NC_000011.9:g.95645264_95645267del	NC_000011.9:g.95645265_95645267del	NC_000011.9:g.95645266_95645267del	NC_000011.9:g.95645267del	NC_000011.9:g.95645267dup	NC_000011.9:g.95645266_95645267dup	NC_000011.9:g.95645261_95645267dup
MTMR2 RefSeqGene (LRG_257)	NG_008333.1:g.17105_17120=	NG_008333.1:g.17116_17120del	NG_008333.1:g.17117_17120del	NG_008333.1:g.17118_17120del	NG_008333.1:g.17119_17120del	NG_008333.1:g.17120del	NG_008333.1:g.17120dup	NG_008333.1:g.17119_17120dup	NG_008333.1:g.17114_17120dup
MTMR2 transcript variant 4	NM_001243571.1:c.-333+2154=	NM_001243571.1:c.-333+2150_-333+2154del	NM_001243571.1:c.-333+2151_-333+2154del	NM_001243571.1:c.-333+2152_-333+2154del	NM_001243571.1:c.-333+2153_-333+2154del	NM_001243571.1:c.-333+2154del	NM_001243571.1:c.-333+2154dup	NM_001243571.1:c.-333+2153_-333+2154dup	NM_001243571.1:c.-333+2148_-333+2154dup
MTMR2 transcript variant 4	NM_001243571.2:c.-333+2154=	NM_001243571.2:c.-333+2150_-333+2154del	NM_001243571.2:c.-333+2151_-333+2154del	NM_001243571.2:c.-333+2152_-333+2154del	NM_001243571.2:c.-333+2153_-333+2154del	NM_001243571.2:c.-333+2154del	NM_001243571.2:c.-333+2154dup	NM_001243571.2:c.-333+2153_-333+2154dup	NM_001243571.2:c.-333+2148_-333+2154dup
MTMR2 transcript variant 1	NM_016156.5:c.80+11787=	NM_016156.5:c.80+11783_80+11787del	NM_016156.5:c.80+11784_80+11787del	NM_016156.5:c.80+11785_80+11787del	NM_016156.5:c.80+11786_80+11787del	NM_016156.5:c.80+11787del	NM_016156.5:c.80+11787dup	NM_016156.5:c.80+11786_80+11787dup	NM_016156.5:c.80+11781_80+11787dup
MTMR2 transcript variant 1	NM_016156.6:c.80+11787=	NM_016156.6:c.80+11783_80+11787del	NM_016156.6:c.80+11784_80+11787del	NM_016156.6:c.80+11785_80+11787del	NM_016156.6:c.80+11786_80+11787del	NM_016156.6:c.80+11787del	NM_016156.6:c.80+11787dup	NM_016156.6:c.80+11786_80+11787dup	NM_016156.6:c.80+11781_80+11787dup
MTMR2 transcript variant 2	NM_201278.2:c.-260+2154=	NM_201278.2:c.-260+2150_-260+2154del	NM_201278.2:c.-260+2151_-260+2154del	NM_201278.2:c.-260+2152_-260+2154del	NM_201278.2:c.-260+2153_-260+2154del	NM_201278.2:c.-260+2154del	NM_201278.2:c.-260+2154dup	NM_201278.2:c.-260+2153_-260+2154dup	NM_201278.2:c.-260+2148_-260+2154dup
MTMR2 transcript variant 2	NM_201278.3:c.-260+2154=	NM_201278.3:c.-260+2150_-260+2154del	NM_201278.3:c.-260+2151_-260+2154del	NM_201278.3:c.-260+2152_-260+2154del	NM_201278.3:c.-260+2153_-260+2154del	NM_201278.3:c.-260+2154del	NM_201278.3:c.-260+2154dup	NM_201278.3:c.-260+2153_-260+2154dup	NM_201278.3:c.-260+2148_-260+2154dup
MTMR2 transcript variant 3	NM_201281.2:c.-137+2154=	NM_201281.2:c.-137+2150_-137+2154del	NM_201281.2:c.-137+2151_-137+2154del	NM_201281.2:c.-137+2152_-137+2154del	NM_201281.2:c.-137+2153_-137+2154del	NM_201281.2:c.-137+2154del	NM_201281.2:c.-137+2154dup	NM_201281.2:c.-137+2153_-137+2154dup	NM_201281.2:c.-137+2148_-137+2154dup
MTMR2 transcript variant 3	NM_201281.3:c.-137+2154=	NM_201281.3:c.-137+2150_-137+2154del	NM_201281.3:c.-137+2151_-137+2154del	NM_201281.3:c.-137+2152_-137+2154del	NM_201281.3:c.-137+2153_-137+2154del	NM_201281.3:c.-137+2154del	NM_201281.3:c.-137+2154dup	NM_201281.3:c.-137+2153_-137+2154dup	NM_201281.3:c.-137+2148_-137+2154dup
MTMR2 transcript variant X4	XM_005274374.1:c.-137+2154=	XM_005274374.1:c.-137+2150_-137+2154del	XM_005274374.1:c.-137+2151_-137+2154del	XM_005274374.1:c.-137+2152_-137+2154del	XM_005274374.1:c.-137+2153_-137+2154del	XM_005274374.1:c.-137+2154del	XM_005274374.1:c.-137+2154dup	XM_005274374.1:c.-137+2153_-137+2154dup	XM_005274374.1:c.-137+2148_-137+2154dup
MTMR2 transcript variant X7	XM_005274375.1:c.-260+11787=	XM_005274375.1:c.-260+11783_-260+11787del	XM_005274375.1:c.-260+11784_-260+11787del	XM_005274375.1:c.-260+11785_-260+11787del	XM_005274375.1:c.-260+11786_-260+11787del	XM_005274375.1:c.-260+11787del	XM_005274375.1:c.-260+11787dup	XM_005274375.1:c.-260+11786_-260+11787dup	XM_005274375.1:c.-260+11781_-260+11787dup
MTMR2 transcript variant X2	XM_047427806.1:c.-137+11604=	XM_047427806.1:c.-137+11600_-137+11604del	XM_047427806.1:c.-137+11601_-137+11604del	XM_047427806.1:c.-137+11602_-137+11604del	XM_047427806.1:c.-137+11603_-137+11604del	XM_047427806.1:c.-137+11604del	XM_047427806.1:c.-137+11604dup	XM_047427806.1:c.-137+11603_-137+11604dup	XM_047427806.1:c.-137+11598_-137+11604dup
MTMR2 transcript variant X3	XM_047427807.1:c.-137+2154=	XM_047427807.1:c.-137+2150_-137+2154del	XM_047427807.1:c.-137+2151_-137+2154del	XM_047427807.1:c.-137+2152_-137+2154del	XM_047427807.1:c.-137+2153_-137+2154del	XM_047427807.1:c.-137+2154del	XM_047427807.1:c.-137+2154dup	XM_047427807.1:c.-137+2153_-137+2154dup	XM_047427807.1:c.-137+2148_-137+2154dup

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#.

70 SubSNP, 31 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss83292167	Oct 12, 2018 (152)
2	HUMANGENOME_JCVI	ss95576986	Feb 13, 2009 (130)
3	GMI	ss289089173	May 04, 2012 (137)
4	GMI	ss289089174	May 04, 2012 (137)
5	PJP	ss294716971	Aug 21, 2014 (142)
6	PJP	ss294716972	May 09, 2011 (137)
7	BILGI_BIOE	ss666545428	Apr 25, 2013 (138)
8	1000GENOMES	ss1371365299	Aug 21, 2014 (142)
9	EVA_UK10K_ALSPAC	ss1707214120	Apr 01, 2015 (144)
10	EVA_UK10K_TWINSUK	ss1707214305	Apr 01, 2015 (144)
11	EVA_UK10K_TWINSUK	ss1710527547	Apr 01, 2015 (144)
12	EVA_UK10K_TWINSUK	ss1710527549	Apr 01, 2015 (144)
13	EVA_UK10K_ALSPAC	ss1710527576	Apr 01, 2015 (144)
14	EVA_UK10K_ALSPAC	ss1710527578	Apr 01, 2015 (144)
15	SWEGEN	ss3008597840	Nov 08, 2017 (151)
16	MCHAISSO	ss3063703027	Nov 08, 2017 (151)
17	MCHAISSO	ss3064529208	Nov 08, 2017 (151)
18	MCHAISSO	ss3064529209	Nov 08, 2017 (151)
19	MCHAISSO	ss3065443554	Nov 08, 2017 (151)
20	URBANLAB	ss3649677025	Oct 12, 2018 (152)
21	EVA_DECODE	ss3692383407	Jul 13, 2019 (153)
22	EVA_DECODE	ss3692383408	Jul 13, 2019 (153)
23	EVA_DECODE	ss3692383409	Jul 13, 2019 (153)
24	EVA_DECODE	ss3692383410	Jul 13, 2019 (153)
25	EVA_DECODE	ss3692383411	Jul 13, 2019 (153)
26	ACPOP	ss3738440459	Jul 13, 2019 (153)
27	ACPOP	ss3738440460	Jul 13, 2019 (153)
28	ACPOP	ss3738440461	Jul 13, 2019 (153)
29	ACPOP	ss3738440462	Jul 13, 2019 (153)
30	PACBIO	ss3787034504	Jul 13, 2019 (153)
31	PACBIO	ss3787034505	Jul 13, 2019 (153)
32	PACBIO	ss3792162984	Jul 13, 2019 (153)
33	PACBIO	ss3797045425	Jul 13, 2019 (153)
34	KHV_HUMAN_GENOMES	ss3815005764	Jul 13, 2019 (153)
35	EVA	ss3832779152	Apr 26, 2020 (154)
36	EVA	ss3839949028	Apr 26, 2020 (154)
37	EVA	ss3845429786	Apr 26, 2020 (154)
38	GNOMAD	ss4240562004	Apr 26, 2021 (155)
39	GNOMAD	ss4240562005	Apr 26, 2021 (155)
40	GNOMAD	ss4240562006	Apr 26, 2021 (155)
41	GNOMAD	ss4240562008	Apr 26, 2021 (155)
42	GNOMAD	ss4240562009	Apr 26, 2021 (155)
43	GNOMAD	ss4240562010	Apr 26, 2021 (155)
44	GNOMAD	ss4240562011	Apr 26, 2021 (155)
45	TOMMO_GENOMICS	ss5203395626	Apr 26, 2021 (155)
46	TOMMO_GENOMICS	ss5203395627	Apr 26, 2021 (155)
47	TOMMO_GENOMICS	ss5203395628	Apr 26, 2021 (155)
48	TOMMO_GENOMICS	ss5203395629	Apr 26, 2021 (155)
49	TOMMO_GENOMICS	ss5203395630	Apr 26, 2021 (155)
50	TOMMO_GENOMICS	ss5203395631	Apr 26, 2021 (155)
51	1000G_HIGH_COVERAGE	ss5288510483	Oct 16, 2022 (156)
52	1000G_HIGH_COVERAGE	ss5288510484	Oct 16, 2022 (156)
53	1000G_HIGH_COVERAGE	ss5288510485	Oct 16, 2022 (156)
54	1000G_HIGH_COVERAGE	ss5288510486	Oct 16, 2022 (156)
55	1000G_HIGH_COVERAGE	ss5288510487	Oct 16, 2022 (156)
56	HUGCELL_USP	ss5483541903	Oct 16, 2022 (156)
57	HUGCELL_USP	ss5483541904	Oct 16, 2022 (156)
58	HUGCELL_USP	ss5483541905	Oct 16, 2022 (156)
59	HUGCELL_USP	ss5483541906	Oct 16, 2022 (156)
60	HUGCELL_USP	ss5483541907	Oct 16, 2022 (156)
61	TOMMO_GENOMICS	ss5751702385	Oct 16, 2022 (156)
62	TOMMO_GENOMICS	ss5751702386	Oct 16, 2022 (156)
63	TOMMO_GENOMICS	ss5751702387	Oct 16, 2022 (156)
64	TOMMO_GENOMICS	ss5751702388	Oct 16, 2022 (156)
65	TOMMO_GENOMICS	ss5751702389	Oct 16, 2022 (156)
66	TOMMO_GENOMICS	ss5751702390	Oct 16, 2022 (156)
67	EVA	ss5837073181	Oct 16, 2022 (156)
68	EVA	ss5837073182	Oct 16, 2022 (156)
69	EVA	ss5837073183	Oct 16, 2022 (156)
70	EVA	ss5921205944	Oct 16, 2022 (156)
71	1000Genomes	NC_000011.9 - 95645252	Oct 12, 2018 (152)
72	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 30568458 (NC_000011.9:95645251:TTT: 1652/3854) Row 30568459 (NC_000011.9:95645252:T: 404/3854)	-	Oct 12, 2018 (152)
73	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 30568458 (NC_000011.9:95645251:TTT: 1652/3854) Row 30568459 (NC_000011.9:95645252:T: 404/3854)	-	Oct 12, 2018 (152)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 388727810 (NC_000011.10:95912087::T 18577/130120) Row 388727811 (NC_000011.10:95912087::TT 51/130258) Row 388727812 (NC_000011.10:95912087::TTTTTTT 1/130268)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 388727810 (NC_000011.10:95912087::T 18577/130120) Row 388727811 (NC_000011.10:95912087::TT 51/130258) Row 388727812 (NC_000011.10:95912087::TTTTTTT 1/130268)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 388727810 (NC_000011.10:95912087::T 18577/130120) Row 388727811 (NC_000011.10:95912087::TT 51/130258) Row 388727812 (NC_000011.10:95912087::TTTTTTT 1/130268)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 388727810 (NC_000011.10:95912087::T 18577/130120) Row 388727811 (NC_000011.10:95912087::TT 51/130258) Row 388727812 (NC_000011.10:95912087::TTTTTTT 1/130268)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 388727810 (NC_000011.10:95912087::T 18577/130120) Row 388727811 (NC_000011.10:95912087::TT 51/130258) Row 388727812 (NC_000011.10:95912087::TTTTTTT 1/130268)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 388727810 (NC_000011.10:95912087::T 18577/130120) Row 388727811 (NC_000011.10:95912087::TT 51/130258) Row 388727812 (NC_000011.10:95912087::TTTTTTT 1/130268)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 388727810 (NC_000011.10:95912087::T 18577/130120) Row 388727811 (NC_000011.10:95912087::TT 51/130258) Row 388727812 (NC_000011.10:95912087::TTTTTTT 1/130268)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 388727810 (NC_000011.10:95912087::T 18577/130120) Row 388727811 (NC_000011.10:95912087::TT 51/130258) Row 388727812 (NC_000011.10:95912087::TTTTTTT 1/130268)...	-	Apr 26, 2021 (155)
82	Northern Sweden Submission ignored due to conflicting rows: Row 11725324 (NC_000011.9:95645251:TTT: 174/596) Row 11725325 (NC_000011.9:95645251:T: 194/596) Row 11725326 (NC_000011.9:95645251:TT: 35/596)...	-	Jul 13, 2019 (153)
83	Northern Sweden Submission ignored due to conflicting rows: Row 11725324 (NC_000011.9:95645251:TTT: 174/596) Row 11725325 (NC_000011.9:95645251:T: 194/596) Row 11725326 (NC_000011.9:95645251:TT: 35/596)...	-	Jul 13, 2019 (153)
84	Northern Sweden Submission ignored due to conflicting rows: Row 11725324 (NC_000011.9:95645251:TTT: 174/596) Row 11725325 (NC_000011.9:95645251:T: 194/596) Row 11725326 (NC_000011.9:95645251:TT: 35/596)...	-	Jul 13, 2019 (153)
85	Northern Sweden Submission ignored due to conflicting rows: Row 11725324 (NC_000011.9:95645251:TTT: 174/596) Row 11725325 (NC_000011.9:95645251:T: 194/596) Row 11725326 (NC_000011.9:95645251:TT: 35/596)...	-	Jul 13, 2019 (153)
86	8.3KJPN Submission ignored due to conflicting rows: Row 61364933 (NC_000011.9:95645251:TTT: 5881/16758) Row 61364934 (NC_000011.9:95645251:T: 8831/16758) Row 61364935 (NC_000011.9:95645251::T 1847/16758)...	-	Apr 26, 2021 (155)
87	8.3KJPN Submission ignored due to conflicting rows: Row 61364933 (NC_000011.9:95645251:TTT: 5881/16758) Row 61364934 (NC_000011.9:95645251:T: 8831/16758) Row 61364935 (NC_000011.9:95645251::T 1847/16758)...	-	Apr 26, 2021 (155)
88	8.3KJPN Submission ignored due to conflicting rows: Row 61364933 (NC_000011.9:95645251:TTT: 5881/16758) Row 61364934 (NC_000011.9:95645251:T: 8831/16758) Row 61364935 (NC_000011.9:95645251::T 1847/16758)...	-	Apr 26, 2021 (155)
89	8.3KJPN Submission ignored due to conflicting rows: Row 61364933 (NC_000011.9:95645251:TTT: 5881/16758) Row 61364934 (NC_000011.9:95645251:T: 8831/16758) Row 61364935 (NC_000011.9:95645251::T 1847/16758)...	-	Apr 26, 2021 (155)
90	8.3KJPN Submission ignored due to conflicting rows: Row 61364933 (NC_000011.9:95645251:TTT: 5881/16758) Row 61364934 (NC_000011.9:95645251:T: 8831/16758) Row 61364935 (NC_000011.9:95645251::T 1847/16758)...	-	Apr 26, 2021 (155)
91	8.3KJPN Submission ignored due to conflicting rows: Row 61364933 (NC_000011.9:95645251:TTT: 5881/16758) Row 61364934 (NC_000011.9:95645251:T: 8831/16758) Row 61364935 (NC_000011.9:95645251::T 1847/16758)...	-	Apr 26, 2021 (155)
92	14KJPN Submission ignored due to conflicting rows: Row 85539489 (NC_000011.10:95912087:TTT: 9968/28258) Row 85539490 (NC_000011.10:95912087:T: 14799/28258) Row 85539491 (NC_000011.10:95912087::T 3254/28258)...	-	Oct 16, 2022 (156)
93	14KJPN Submission ignored due to conflicting rows: Row 85539489 (NC_000011.10:95912087:TTT: 9968/28258) Row 85539490 (NC_000011.10:95912087:T: 14799/28258) Row 85539491 (NC_000011.10:95912087::T 3254/28258)...	-	Oct 16, 2022 (156)
94	14KJPN Submission ignored due to conflicting rows: Row 85539489 (NC_000011.10:95912087:TTT: 9968/28258) Row 85539490 (NC_000011.10:95912087:T: 14799/28258) Row 85539491 (NC_000011.10:95912087::T 3254/28258)...	-	Oct 16, 2022 (156)
95	14KJPN Submission ignored due to conflicting rows: Row 85539489 (NC_000011.10:95912087:TTT: 9968/28258) Row 85539490 (NC_000011.10:95912087:T: 14799/28258) Row 85539491 (NC_000011.10:95912087::T 3254/28258)...	-	Oct 16, 2022 (156)
96	14KJPN Submission ignored due to conflicting rows: Row 85539489 (NC_000011.10:95912087:TTT: 9968/28258) Row 85539490 (NC_000011.10:95912087:T: 14799/28258) Row 85539491 (NC_000011.10:95912087::T 3254/28258)...	-	Oct 16, 2022 (156)
97	14KJPN Submission ignored due to conflicting rows: Row 85539489 (NC_000011.10:95912087:TTT: 9968/28258) Row 85539490 (NC_000011.10:95912087:T: 14799/28258) Row 85539491 (NC_000011.10:95912087::T 3254/28258)...	-	Oct 16, 2022 (156)
98	UK 10K study - Twins Submission ignored due to conflicting rows: Row 30568458 (NC_000011.9:95645251:TTT: 1573/3708) Row 30568459 (NC_000011.9:95645252:T: 360/3708)	-	Oct 12, 2018 (152)
99	UK 10K study - Twins Submission ignored due to conflicting rows: Row 30568458 (NC_000011.9:95645251:TTT: 1573/3708) Row 30568459 (NC_000011.9:95645252:T: 360/3708)	-	Oct 12, 2018 (152)
100	UK 10K study - Twins Submission ignored due to conflicting rows: Row 30568458 (NC_000011.9:95645251:TTT: 1573/3708) Row 30568459 (NC_000011.9:95645252:TT: 360/3708) Row 30568460 (NC_000011.9:95645253:T: 1773/3708)	-	Apr 26, 2020 (154)
101	ALFA	NC_000011.10 - 95912088	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)
rs67486619	Feb 27, 2009 (130)
rs67486620	Feb 27, 2009 (130)
rs145647797	May 11, 2012 (137)
rs201251311	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4240562011	NC_000011.10:95912087:TTTTT:	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
12540838049	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss3008597840, ss3738440462, ss5203395631	NC_000011.9:95645251:TTTT:	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss3692383407, ss4240562010, ss5288510487, ss5483541907, ss5751702389	NC_000011.10:95912087:TTTT:	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
12540838049	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss289089173, ss294716971	NC_000011.8:95284899:TTT:	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss1707214120, ss1707214305, ss3738440459, ss3787034504, ss5203395626, ss5837073181	NC_000011.9:95645251:TTT:	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3064529209, ss4240562009, ss5288510485, ss5483541905, ss5751702385	NC_000011.10:95912087:TTT:	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
12540838049	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3692383408	NC_000011.10:95912088:TTT:	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss95576986	NT_167190.1:40951059:TTT:	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3738440461, ss3787034505, ss3792162984, ss3797045425, ss5203395629, ss5837073183	NC_000011.9:95645251:TT:	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss1710527547, ss1710527576	NC_000011.9:95645252:TT:	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4240562008, ss5288510486, ss5483541906, ss5751702388	NC_000011.10:95912087:TT:	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
12540838049	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss3692383409	NC_000011.10:95912089:TT:	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss289089174	NC_000011.8:95284899:T:	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss294716972	NC_000011.8:95284914:T:	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
55081942, ss666545428, ss1371365299, ss3738440460, ss3832779152, ss5203395627, ss5837073182	NC_000011.9:95645251:T:	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
	NC_000011.9:95645252:T:	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss1710527549, ss1710527578, ss3839949028	NC_000011.9:95645253:T:	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3063703027, ss3064529208, ss3065443554, ss3649677025, ss3815005764, ss5288510483, ss5483541904, ss5751702386, ss5921205944	NC_000011.10:95912087:T:	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
12540838049	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3845429786	NC_000011.10:95912089:T:	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3692383410	NC_000011.10:95912090:T:	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss5203395628	NC_000011.9:95645251::T	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4240562004, ss5288510484, ss5483541903, ss5751702387	NC_000011.10:95912087::T	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
12540838049	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3692383411	NC_000011.10:95912091::T	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss83292167	NT_167190.1:40951062::T	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss5203395630	NC_000011.9:95645251::TT	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4240562005, ss5751702390	NC_000011.10:95912087::TT	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
12540838049	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4240562006	NC_000011.10:95912087::TTTTTTT	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
12540838049	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000011.10:95912087:TTTTTTTTTTTT… NC_000011.10:95912087:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(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 rs67486618

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

rs67486618