Name: rs199564761
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.

rs199564761

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:42393596-42393611 (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 / dupTTT / dup(T)₄ / dup(T)₅
Variation Type: Indel Insertion and Deletion
Frequency: delT=0.01258 (183/14552, ALFA)
delT=0.3081 (1543/5008, 1000G)
delT=0.030 (18/600, NorthernSweden)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CAPN3 : 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	14552	TTTTTTTTTTTTTTTT=0.98591	TTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.01258, TTTTTTTTTTTTTTTTT=0.00151, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00000	0.975186	0.000414	0.0244	2
European	Sub	12844	TTTTTTTTTTTTTTTT=0.98451	TTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.01425, TTTTTTTTTTTTTTTTT=0.00125, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00000	0.971901	0.000468	0.02763	2
African	Sub	820	TTTTTTTTTTTTTTTT=0.994	TTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.006, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	16	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	804	TTTTTTTTTTTTTTTT=0.994	TTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.006, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	78	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	58	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	20	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	84	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	362	TTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	52	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	312	TTTTTTTTTTTTTTTT=0.997	TTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.003, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A

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	14552	(T)₁₆=0.98591	del(T)₅=0.00000, delTT=0.00000, delT=0.01258, dupT=0.00151, dupTT=0.00000, dupTTT=0.00000
Allele Frequency Aggregator	European	Sub	12844	(T)₁₆=0.98451	del(T)₅=0.00000, delTT=0.00000, delT=0.01425, dupT=0.00125, dupTT=0.00000, dupTTT=0.00000
Allele Frequency Aggregator	African	Sub	820	(T)₁₆=0.994	del(T)₅=0.000, delTT=0.000, delT=0.000, dupT=0.006, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Latin American 2	Sub	362	(T)₁₆=1.000	del(T)₅=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Other	Sub	312	(T)₁₆=0.997	del(T)₅=0.000, delTT=0.000, delT=0.000, dupT=0.003, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Latin American 1	Sub	84	(T)₁₆=1.00	del(T)₅=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator	Asian	Sub	78	(T)₁₆=1.00	del(T)₅=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator	South Asian	Sub	52	(T)₁₆=1.00	del(T)₅=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
1000Genomes	Global	Study-wide	5008	(T)₁₆=0.6919	delT=0.3081
1000Genomes	African	Sub	1322	(T)₁₆=0.4773	delT=0.5227
1000Genomes	East Asian	Sub	1008	(T)₁₆=0.8482	delT=0.1518
1000Genomes	Europe	Sub	1006	(T)₁₆=0.8678	delT=0.1322
1000Genomes	South Asian	Sub	978	(T)₁₆=0.680	delT=0.320
1000Genomes	American	Sub	694	(T)₁₆=0.635	delT=0.365
Northern Sweden	ACPOP	Study-wide	600	(T)₁₆=0.970	delT=0.030

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 15	NC_000015.10:g.42393607_42393611del
GRCh38.p14 chr 15	NC_000015.10:g.42393608_42393611del
GRCh38.p14 chr 15	NC_000015.10:g.42393609_42393611del
GRCh38.p14 chr 15	NC_000015.10:g.42393610_42393611del
GRCh38.p14 chr 15	NC_000015.10:g.42393611del
GRCh38.p14 chr 15	NC_000015.10:g.42393611dup
GRCh38.p14 chr 15	NC_000015.10:g.42393610_42393611dup
GRCh38.p14 chr 15	NC_000015.10:g.42393609_42393611dup
GRCh38.p14 chr 15	NC_000015.10:g.42393608_42393611dup
GRCh38.p14 chr 15	NC_000015.10:g.42393607_42393611dup
GRCh37.p13 chr 15	NC_000015.9:g.42685805_42685809del
GRCh37.p13 chr 15	NC_000015.9:g.42685806_42685809del
GRCh37.p13 chr 15	NC_000015.9:g.42685807_42685809del
GRCh37.p13 chr 15	NC_000015.9:g.42685808_42685809del
GRCh37.p13 chr 15	NC_000015.9:g.42685809del
GRCh37.p13 chr 15	NC_000015.9:g.42685809dup
GRCh37.p13 chr 15	NC_000015.9:g.42685808_42685809dup
GRCh37.p13 chr 15	NC_000015.9:g.42685807_42685809dup
GRCh37.p13 chr 15	NC_000015.9:g.42685806_42685809dup
GRCh37.p13 chr 15	NC_000015.9:g.42685805_42685809dup
CAPN3 RefSeqGene (LRG_849)	NG_008660.1:g.50505_50509del
CAPN3 RefSeqGene (LRG_849)	NG_008660.1:g.50506_50509del
CAPN3 RefSeqGene (LRG_849)	NG_008660.1:g.50507_50509del
CAPN3 RefSeqGene (LRG_849)	NG_008660.1:g.50508_50509del
CAPN3 RefSeqGene (LRG_849)	NG_008660.1:g.50509del
CAPN3 RefSeqGene (LRG_849)	NG_008660.1:g.50509dup
CAPN3 RefSeqGene (LRG_849)	NG_008660.1:g.50508_50509dup
CAPN3 RefSeqGene (LRG_849)	NG_008660.1:g.50507_50509dup
CAPN3 RefSeqGene (LRG_849)	NG_008660.1:g.50506_50509dup
CAPN3 RefSeqGene (LRG_849)	NG_008660.1:g.50505_50509dup

Gene: CAPN3, calpain 3 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CAPN3 transcript variant 1	NM_000070.3:c.1030-649_10… NM_000070.3:c.1030-649_1030-645del	N/A	Intron Variant
CAPN3 transcript variant 2	NM_024344.2:c.1030-649_10… NM_024344.2:c.1030-649_1030-645del	N/A	Intron Variant
CAPN3 transcript variant 3	NM_173087.2:c.886-649_886… NM_173087.2:c.886-649_886-645del	N/A	Intron Variant
CAPN3 transcript variant 4	NM_173088.2:c.	N/A	Genic Upstream Transcript Variant
CAPN3 transcript variant 5	NM_173089.2:c.	N/A	Genic Upstream Transcript Variant
CAPN3 transcript variant 6	NM_173090.2: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	dupTTT	dup(T)₄	dup(T)₅
GRCh38.p14 chr 15	NC_000015.10:g.42393596_42393611=	NC_000015.10:g.42393607_42393611del	NC_000015.10:g.42393608_42393611del	NC_000015.10:g.42393609_42393611del	NC_000015.10:g.42393610_42393611del	NC_000015.10:g.42393611del	NC_000015.10:g.42393611dup	NC_000015.10:g.42393610_42393611dup	NC_000015.10:g.42393609_42393611dup	NC_000015.10:g.42393608_42393611dup	NC_000015.10:g.42393607_42393611dup
GRCh37.p13 chr 15	NC_000015.9:g.42685794_42685809=	NC_000015.9:g.42685805_42685809del	NC_000015.9:g.42685806_42685809del	NC_000015.9:g.42685807_42685809del	NC_000015.9:g.42685808_42685809del	NC_000015.9:g.42685809del	NC_000015.9:g.42685809dup	NC_000015.9:g.42685808_42685809dup	NC_000015.9:g.42685807_42685809dup	NC_000015.9:g.42685806_42685809dup	NC_000015.9:g.42685805_42685809dup
CAPN3 RefSeqGene (LRG_849)	NG_008660.1:g.50494_50509=	NG_008660.1:g.50505_50509del	NG_008660.1:g.50506_50509del	NG_008660.1:g.50507_50509del	NG_008660.1:g.50508_50509del	NG_008660.1:g.50509del	NG_008660.1:g.50509dup	NG_008660.1:g.50508_50509dup	NG_008660.1:g.50507_50509dup	NG_008660.1:g.50506_50509dup	NG_008660.1:g.50505_50509dup
CAPN3 transcript variant 1	NM_000070.2:c.1030-660=	NM_000070.2:c.1030-649_1030-645del	NM_000070.2:c.1030-648_1030-645del	NM_000070.2:c.1030-647_1030-645del	NM_000070.2:c.1030-646_1030-645del	NM_000070.2:c.1030-645del	NM_000070.2:c.1030-645dup	NM_000070.2:c.1030-646_1030-645dup	NM_000070.2:c.1030-647_1030-645dup	NM_000070.2:c.1030-648_1030-645dup	NM_000070.2:c.1030-649_1030-645dup
CAPN3 transcript variant 1	NM_000070.3:c.1030-660=	NM_000070.3:c.1030-649_1030-645del	NM_000070.3:c.1030-648_1030-645del	NM_000070.3:c.1030-647_1030-645del	NM_000070.3:c.1030-646_1030-645del	NM_000070.3:c.1030-645del	NM_000070.3:c.1030-645dup	NM_000070.3:c.1030-646_1030-645dup	NM_000070.3:c.1030-647_1030-645dup	NM_000070.3:c.1030-648_1030-645dup	NM_000070.3:c.1030-649_1030-645dup
CAPN3 transcript variant 2	NM_024344.1:c.1030-660=	NM_024344.1:c.1030-649_1030-645del	NM_024344.1:c.1030-648_1030-645del	NM_024344.1:c.1030-647_1030-645del	NM_024344.1:c.1030-646_1030-645del	NM_024344.1:c.1030-645del	NM_024344.1:c.1030-645dup	NM_024344.1:c.1030-646_1030-645dup	NM_024344.1:c.1030-647_1030-645dup	NM_024344.1:c.1030-648_1030-645dup	NM_024344.1:c.1030-649_1030-645dup
CAPN3 transcript variant 2	NM_024344.2:c.1030-660=	NM_024344.2:c.1030-649_1030-645del	NM_024344.2:c.1030-648_1030-645del	NM_024344.2:c.1030-647_1030-645del	NM_024344.2:c.1030-646_1030-645del	NM_024344.2:c.1030-645del	NM_024344.2:c.1030-645dup	NM_024344.2:c.1030-646_1030-645dup	NM_024344.2:c.1030-647_1030-645dup	NM_024344.2:c.1030-648_1030-645dup	NM_024344.2:c.1030-649_1030-645dup
CAPN3 transcript variant 3	NM_173087.1:c.886-660=	NM_173087.1:c.886-649_886-645del	NM_173087.1:c.886-648_886-645del	NM_173087.1:c.886-647_886-645del	NM_173087.1:c.886-646_886-645del	NM_173087.1:c.886-645del	NM_173087.1:c.886-645dup	NM_173087.1:c.886-646_886-645dup	NM_173087.1:c.886-647_886-645dup	NM_173087.1:c.886-648_886-645dup	NM_173087.1:c.886-649_886-645dup
CAPN3 transcript variant 3	NM_173087.2:c.886-660=	NM_173087.2:c.886-649_886-645del	NM_173087.2:c.886-648_886-645del	NM_173087.2:c.886-647_886-645del	NM_173087.2:c.886-646_886-645del	NM_173087.2:c.886-645del	NM_173087.2:c.886-645dup	NM_173087.2:c.886-646_886-645dup	NM_173087.2:c.886-647_886-645dup	NM_173087.2:c.886-648_886-645dup	NM_173087.2:c.886-649_886-645dup
CAPN3 transcript variant X1	XM_005254703.1:c.1030-660=	XM_005254703.1:c.1030-649_1030-645del	XM_005254703.1:c.1030-648_1030-645del	XM_005254703.1:c.1030-647_1030-645del	XM_005254703.1:c.1030-646_1030-645del	XM_005254703.1:c.1030-645del	XM_005254703.1:c.1030-645dup	XM_005254703.1:c.1030-646_1030-645dup	XM_005254703.1:c.1030-647_1030-645dup	XM_005254703.1:c.1030-648_1030-645dup	XM_005254703.1:c.1030-649_1030-645dup
CAPN3 transcript variant X2	XM_005254704.1:c.769-660=	XM_005254704.1:c.769-649_769-645del	XM_005254704.1:c.769-648_769-645del	XM_005254704.1:c.769-647_769-645del	XM_005254704.1:c.769-646_769-645del	XM_005254704.1:c.769-645del	XM_005254704.1:c.769-645dup	XM_005254704.1:c.769-646_769-645dup	XM_005254704.1:c.769-647_769-645dup	XM_005254704.1:c.769-648_769-645dup	XM_005254704.1:c.769-649_769-645dup
CAPN3 transcript variant X3	XM_005254705.1:c.769-660=	XM_005254705.1:c.769-649_769-645del	XM_005254705.1:c.769-648_769-645del	XM_005254705.1:c.769-647_769-645del	XM_005254705.1:c.769-646_769-645del	XM_005254705.1:c.769-645del	XM_005254705.1:c.769-645dup	XM_005254705.1:c.769-646_769-645dup	XM_005254705.1:c.769-647_769-645dup	XM_005254705.1:c.769-648_769-645dup	XM_005254705.1:c.769-649_769-645dup
CAPN3 transcript variant X4	XM_005254706.1:c.625-660=	XM_005254706.1:c.625-649_625-645del	XM_005254706.1:c.625-648_625-645del	XM_005254706.1:c.625-647_625-645del	XM_005254706.1:c.625-646_625-645del	XM_005254706.1:c.625-645del	XM_005254706.1:c.625-645dup	XM_005254706.1:c.625-646_625-645dup	XM_005254706.1:c.625-647_625-645dup	XM_005254706.1:c.625-648_625-645dup	XM_005254706.1:c.625-649_625-645dup

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#.

32 SubSNP, 17 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GMI	ss289253737	May 04, 2012 (137)
2	1000GENOMES	ss1374824375	Aug 21, 2014 (142)
3	SWEGEN	ss3013178365	Nov 08, 2017 (151)
4	MCHAISSO	ss3064653507	Nov 08, 2017 (151)
5	MCHAISSO	ss3065584503	Nov 08, 2017 (151)
6	ACPOP	ss3740871082	Jul 13, 2019 (153)
7	PACBIO	ss3787829462	Jul 13, 2019 (153)
8	PACBIO	ss3792844644	Jul 13, 2019 (153)
9	PACBIO	ss3797729119	Jul 13, 2019 (153)
10	KHV_HUMAN_GENOMES	ss3818325353	Jul 13, 2019 (153)
11	EVA	ss3834204572	Apr 27, 2020 (154)
12	GNOMAD	ss4287617686	Apr 27, 2021 (155)
13	GNOMAD	ss4287617687	Apr 27, 2021 (155)
14	GNOMAD	ss4287617688	Apr 27, 2021 (155)
15	GNOMAD	ss4287617689	Apr 27, 2021 (155)
16	GNOMAD	ss4287617690	Apr 27, 2021 (155)
17	GNOMAD	ss4287617691	Apr 27, 2021 (155)
18	GNOMAD	ss4287617692	Apr 27, 2021 (155)
19	GNOMAD	ss4287617693	Apr 27, 2021 (155)
20	GNOMAD	ss4287617694	Apr 27, 2021 (155)
21	GNOMAD	ss4287617695	Apr 27, 2021 (155)
22	TOMMO_GENOMICS	ss5215886422	Apr 27, 2021 (155)
23	TOMMO_GENOMICS	ss5215886423	Apr 27, 2021 (155)
24	1000G_HIGH_COVERAGE	ss5298216643	Oct 16, 2022 (156)
25	1000G_HIGH_COVERAGE	ss5298216644	Oct 16, 2022 (156)
26	1000G_HIGH_COVERAGE	ss5298216645	Oct 16, 2022 (156)
27	HUGCELL_USP	ss5491970950	Oct 16, 2022 (156)
28	HUGCELL_USP	ss5491970951	Oct 16, 2022 (156)
29	HUGCELL_USP	ss5491970952	Oct 16, 2022 (156)
30	TOMMO_GENOMICS	ss5769600376	Oct 16, 2022 (156)
31	TOMMO_GENOMICS	ss5769600377	Oct 16, 2022 (156)
32	EVA	ss5851267077	Oct 16, 2022 (156)
33	1000Genomes	NC_000015.9 - 42685794	Oct 12, 2018 (152)
34	gnomAD - Genomes Submission ignored due to conflicting rows: Row 467132364 (NC_000015.10:42393595::T 3646/118342) Row 467132365 (NC_000015.10:42393595::TT 141/118404) Row 467132366 (NC_000015.10:42393595::TTT 3/118408)...	-	Apr 27, 2021 (155)
35	gnomAD - Genomes Submission ignored due to conflicting rows: Row 467132364 (NC_000015.10:42393595::T 3646/118342) Row 467132365 (NC_000015.10:42393595::TT 141/118404) Row 467132366 (NC_000015.10:42393595::TTT 3/118408)...	-	Apr 27, 2021 (155)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 467132364 (NC_000015.10:42393595::T 3646/118342) Row 467132365 (NC_000015.10:42393595::TT 141/118404) Row 467132366 (NC_000015.10:42393595::TTT 3/118408)...	-	Apr 27, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 467132364 (NC_000015.10:42393595::T 3646/118342) Row 467132365 (NC_000015.10:42393595::TT 141/118404) Row 467132366 (NC_000015.10:42393595::TTT 3/118408)...	-	Apr 27, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 467132364 (NC_000015.10:42393595::T 3646/118342) Row 467132365 (NC_000015.10:42393595::TT 141/118404) Row 467132366 (NC_000015.10:42393595::TTT 3/118408)...	-	Apr 27, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 467132364 (NC_000015.10:42393595::T 3646/118342) Row 467132365 (NC_000015.10:42393595::TT 141/118404) Row 467132366 (NC_000015.10:42393595::TTT 3/118408)...	-	Apr 27, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 467132364 (NC_000015.10:42393595::T 3646/118342) Row 467132365 (NC_000015.10:42393595::TT 141/118404) Row 467132366 (NC_000015.10:42393595::TTT 3/118408)...	-	Apr 27, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 467132364 (NC_000015.10:42393595::T 3646/118342) Row 467132365 (NC_000015.10:42393595::TT 141/118404) Row 467132366 (NC_000015.10:42393595::TTT 3/118408)...	-	Apr 27, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 467132364 (NC_000015.10:42393595::T 3646/118342) Row 467132365 (NC_000015.10:42393595::TT 141/118404) Row 467132366 (NC_000015.10:42393595::TTT 3/118408)...	-	Apr 27, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 467132364 (NC_000015.10:42393595::T 3646/118342) Row 467132365 (NC_000015.10:42393595::TT 141/118404) Row 467132366 (NC_000015.10:42393595::TTT 3/118408)...	-	Apr 27, 2021 (155)
44	Northern Sweden	NC_000015.9 - 42685794	Jul 13, 2019 (153)
45	8.3KJPN Submission ignored due to conflicting rows: Row 73855729 (NC_000015.9:42685793:T: 1962/16746) Row 73855730 (NC_000015.9:42685793::T 8/16746)	-	Apr 27, 2021 (155)
46	8.3KJPN Submission ignored due to conflicting rows: Row 73855729 (NC_000015.9:42685793:T: 1962/16746) Row 73855730 (NC_000015.9:42685793::T 8/16746)	-	Apr 27, 2021 (155)
47	14KJPN Submission ignored due to conflicting rows: Row 103437480 (NC_000015.10:42393595:T: 3180/27954) Row 103437481 (NC_000015.10:42393595::T 16/27954)	-	Oct 16, 2022 (156)
48	14KJPN Submission ignored due to conflicting rows: Row 103437480 (NC_000015.10:42393595:T: 3180/27954) Row 103437481 (NC_000015.10:42393595::T 16/27954)	-	Oct 16, 2022 (156)
49	ALFA	NC_000015.10 - 42393596	Apr 27, 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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4287617695	NC_000015.10:42393595:TTTTT:	NC_000015.10:42393595:TTTTTTTTTTTT… NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
1887545912	NC_000015.10:42393595:TTTTTTTTTTTT… NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000015.10:42393595:TTTTTTTTTTTT… NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4287617694	NC_000015.10:42393595:TTTT:	NC_000015.10:42393595:TTTTTTTTTTTT… NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4287617693	NC_000015.10:42393595:TTT:	NC_000015.10:42393595:TTTTTTTTTTTT… NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4287617692, ss5491970952	NC_000015.10:42393595:TT:	NC_000015.10:42393595:TTTTTTTTTTTT… NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
1887545912	NC_000015.10:42393595:TTTTTTTTTTTT… NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000015.10:42393595:TTTTTTTTTTTT… NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss289253737	NC_000015.8:40473085:T:	NC_000015.10:42393595:TTTTTTTTTTTT… NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
66268684, 14155947, ss1374824375, ss3013178365, ss3740871082, ss3787829462, ss3792844644, ss3797729119, ss3834204572, ss5215886422	NC_000015.9:42685793:T:	NC_000015.10:42393595:TTTTTTTTTTTT… NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3064653507, ss3065584503, ss3818325353, ss4287617691, ss5298216643, ss5491970951, ss5769600376, ss5851267077	NC_000015.10:42393595:T:	NC_000015.10:42393595:TTTTTTTTTTTT… NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
1887545912	NC_000015.10:42393595:TTTTTTTTTTTT… NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000015.10:42393595:TTTTTTTTTTTT… NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss5215886423	NC_000015.9:42685793::T	NC_000015.10:42393595:TTTTTTTTTTTT… NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4287617686, ss5298216644, ss5491970950, ss5769600377	NC_000015.10:42393595::T	NC_000015.10:42393595:TTTTTTTTTTTT… NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
1887545912	NC_000015.10:42393595:TTTTTTTTTTTT… NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000015.10:42393595:TTTTTTTTTTTT… NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4287617687, ss5298216645	NC_000015.10:42393595::TT	NC_000015.10:42393595:TTTTTTTTTTTT… NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
1887545912	NC_000015.10:42393595:TTTTTTTTTTTT… NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000015.10:42393595:TTTTTTTTTTTT… NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4287617688	NC_000015.10:42393595::TTT	NC_000015.10:42393595:TTTTTTTTTTTT… NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
1887545912	NC_000015.10:42393595:TTTTTTTTTTTT… NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000015.10:42393595:TTTTTTTTTTTT… NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4287617689	NC_000015.10:42393595::TTTT	NC_000015.10:42393595:TTTTTTTTTTTT… NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4287617690	NC_000015.10:42393595::TTTTT	NC_000015.10:42393595:TTTTTTTTTTTT… NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(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 rs199564761

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

rs199564761