Name: rs71168387
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.

rs71168387

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:131194004-131194020 (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)₇ / del(T)₆ / del(T)₅ / delT…
del(T)₇ / del(T)₆ / del(T)₅ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / ins(T)₂₅ / ins(T)₂₇
Variation Type: Indel Insertion and Deletion
Frequency: delT=0.0487 (461/9470, ALFA)
delT=0.30 (12/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: MKLN1 : 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	9470	TTTTTTTTTTTTTTTTT=0.9306	TTTTTTTTTTT=0.0001, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0487, TTTTTTTTTTTTTTTTTT=0.0201, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0001, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0002, TTTTTTTTTTTTTTTTTTT=0.0002, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000	0.912547	0.00857	0.078884	32
European	Sub	8052	TTTTTTTTTTTTTTTTT=0.9187	TTTTTTTTTTT=0.0001, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0570, TTTTTTTTTTTTTTTTTT=0.0236, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0001, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0002, TTTTTTTTTTTTTTTTTTT=0.0002, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000	0.896929	0.010151	0.09292	34
African	Sub	982	TTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	30	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	952	TTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	30	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	18	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	12	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	36	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	168	TTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	22	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	180	TTTTTTTTTTTTTTTTT=0.989	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.011, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	0.977778	0.0	0.022222	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
Allele Frequency Aggregator	Total	Global	9470	(T)₁₇=0.9306	del(T)₆=0.0001, del(T)₅=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0487, dupT=0.0201, dupTT=0.0002, dupTTT=0.0000, dup(T)₄=0.0000, ins(T)₂₅=0.0001, ins(T)₂₇=0.0002
Allele Frequency Aggregator	European	Sub	8052	(T)₁₇=0.9187	del(T)₆=0.0001, del(T)₅=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0570, dupT=0.0236, dupTT=0.0002, dupTTT=0.0000, dup(T)₄=0.0000, ins(T)₂₅=0.0001, ins(T)₂₇=0.0002
Allele Frequency Aggregator	African	Sub	982	(T)₁₇=1.000	del(T)₆=0.000, del(T)₅=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, ins(T)₂₅=0.000, ins(T)₂₇=0.000
Allele Frequency Aggregator	Other	Sub	180	(T)₁₇=0.989	del(T)₆=0.000, del(T)₅=0.000, delTTT=0.000, delTT=0.000, delT=0.011, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, ins(T)₂₅=0.000, ins(T)₂₇=0.000
Allele Frequency Aggregator	Latin American 2	Sub	168	(T)₁₇=1.000	del(T)₆=0.000, del(T)₅=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, ins(T)₂₅=0.000, ins(T)₂₇=0.000
Allele Frequency Aggregator	Latin American 1	Sub	36	(T)₁₇=1.00	del(T)₆=0.00, del(T)₅=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, ins(T)₂₅=0.00, ins(T)₂₇=0.00
Allele Frequency Aggregator	Asian	Sub	30	(T)₁₇=1.00	del(T)₆=0.00, del(T)₅=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, ins(T)₂₅=0.00, ins(T)₂₇=0.00
Allele Frequency Aggregator	South Asian	Sub	22	(T)₁₇=1.00	del(T)₆=0.00, del(T)₅=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, ins(T)₂₅=0.00, ins(T)₂₇=0.00
The Danish reference pan genome	Danish	Study-wide	40	(T)₁₇=0.70	delT=0.30

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 7	NC_000007.14:g.131194014_131194020del
GRCh38.p14 chr 7	NC_000007.14:g.131194015_131194020del
GRCh38.p14 chr 7	NC_000007.14:g.131194016_131194020del
GRCh38.p14 chr 7	NC_000007.14:g.131194018_131194020del
GRCh38.p14 chr 7	NC_000007.14:g.131194019_131194020del
GRCh38.p14 chr 7	NC_000007.14:g.131194020del
GRCh38.p14 chr 7	NC_000007.14:g.131194020dup
GRCh38.p14 chr 7	NC_000007.14:g.131194019_131194020dup
GRCh38.p14 chr 7	NC_000007.14:g.131194018_131194020dup
GRCh38.p14 chr 7	NC_000007.14:g.131194017_131194020dup
GRCh38.p14 chr 7	NC_000007.14:g.131194020_131194021insTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 7	NC_000007.14:g.131194020_131194021insTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 7	NC_000007.13:g.130878773_130878779del
GRCh37.p13 chr 7	NC_000007.13:g.130878774_130878779del
GRCh37.p13 chr 7	NC_000007.13:g.130878775_130878779del
GRCh37.p13 chr 7	NC_000007.13:g.130878777_130878779del
GRCh37.p13 chr 7	NC_000007.13:g.130878778_130878779del
GRCh37.p13 chr 7	NC_000007.13:g.130878779del
GRCh37.p13 chr 7	NC_000007.13:g.130878779dup
GRCh37.p13 chr 7	NC_000007.13:g.130878778_130878779dup
GRCh37.p13 chr 7	NC_000007.13:g.130878777_130878779dup
GRCh37.p13 chr 7	NC_000007.13:g.130878776_130878779dup
GRCh37.p13 chr 7	NC_000007.13:g.130878779_130878780insTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 7	NC_000007.13:g.130878779_130878780insTTTTTTTTTTTTTTTTTTTTTTTTTTT

Gene: MKLN1, muskelin 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MKLN1 transcript variant 1	NM_001145354.2:c.29+51073… NM_001145354.2:c.29+51073_29+51079del	N/A	Intron Variant
MKLN1 transcript variant 3	NM_001321316.2:c.	N/A	Genic Upstream Transcript Variant
MKLN1 transcript variant 2	NM_013255.5:c.	N/A	Genic Upstream Transcript Variant
MKLN1 transcript variant X2	XM_047420401.1:c.29+51073… XM_047420401.1:c.29+51073_29+51079del	N/A	Intron Variant
MKLN1 transcript variant X1	XM_006715993.4:c.	N/A	Genic Upstream Transcript Variant
MKLN1 transcript variant X3	XM_011516224.4:c.	N/A	Genic Upstream Transcript Variant
MKLN1 transcript variant X4	XM_047420402.1: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)₁₇=	del(T)₇	del(T)₆	del(T)₅	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	ins(T)₂₅	ins(T)₂₇
GRCh38.p14 chr 7	NC_000007.14:g.131194004_131194020=	NC_000007.14:g.131194014_131194020del	NC_000007.14:g.131194015_131194020del	NC_000007.14:g.131194016_131194020del	NC_000007.14:g.131194018_131194020del	NC_000007.14:g.131194019_131194020del	NC_000007.14:g.131194020del	NC_000007.14:g.131194020dup	NC_000007.14:g.131194019_131194020dup	NC_000007.14:g.131194018_131194020dup	NC_000007.14:g.131194017_131194020dup	NC_000007.14:g.131194020_131194021insTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:g.131194020_131194021insTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 7	NC_000007.13:g.130878763_130878779=	NC_000007.13:g.130878773_130878779del	NC_000007.13:g.130878774_130878779del	NC_000007.13:g.130878775_130878779del	NC_000007.13:g.130878777_130878779del	NC_000007.13:g.130878778_130878779del	NC_000007.13:g.130878779del	NC_000007.13:g.130878779dup	NC_000007.13:g.130878778_130878779dup	NC_000007.13:g.130878777_130878779dup	NC_000007.13:g.130878776_130878779dup	NC_000007.13:g.130878779_130878780insTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000007.13:g.130878779_130878780insTTTTTTTTTTTTTTTTTTTTTTTTTTT
MKLN1 transcript variant 1	NM_001145354.1:c.29+51063=	NM_001145354.1:c.29+51073_29+51079del	NM_001145354.1:c.29+51074_29+51079del	NM_001145354.1:c.29+51075_29+51079del	NM_001145354.1:c.29+51077_29+51079del	NM_001145354.1:c.29+51078_29+51079del	NM_001145354.1:c.29+51079del	NM_001145354.1:c.29+51079dup	NM_001145354.1:c.29+51078_29+51079dup	NM_001145354.1:c.29+51077_29+51079dup	NM_001145354.1:c.29+51076_29+51079dup	NM_001145354.1:c.29+51079_29+51080insTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001145354.1:c.29+51079_29+51080insTTTTTTTTTTTTTTTTTTTTTTTTTTT
MKLN1 transcript variant 1	NM_001145354.2:c.29+51063=	NM_001145354.2:c.29+51073_29+51079del	NM_001145354.2:c.29+51074_29+51079del	NM_001145354.2:c.29+51075_29+51079del	NM_001145354.2:c.29+51077_29+51079del	NM_001145354.2:c.29+51078_29+51079del	NM_001145354.2:c.29+51079del	NM_001145354.2:c.29+51079dup	NM_001145354.2:c.29+51078_29+51079dup	NM_001145354.2:c.29+51077_29+51079dup	NM_001145354.2:c.29+51076_29+51079dup	NM_001145354.2:c.29+51079_29+51080insTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001145354.2:c.29+51079_29+51080insTTTTTTTTTTTTTTTTTTTTTTTTTTT
MKLN1 transcript variant X2	XM_047420401.1:c.29+51063=	XM_047420401.1:c.29+51073_29+51079del	XM_047420401.1:c.29+51074_29+51079del	XM_047420401.1:c.29+51075_29+51079del	XM_047420401.1:c.29+51077_29+51079del	XM_047420401.1:c.29+51078_29+51079del	XM_047420401.1:c.29+51079del	XM_047420401.1:c.29+51079dup	XM_047420401.1:c.29+51078_29+51079dup	XM_047420401.1:c.29+51077_29+51079dup	XM_047420401.1:c.29+51076_29+51079dup	XM_047420401.1:c.29+51079_29+51080insTTTTTTTTTTTTTTTTTTTTTTTTT	XM_047420401.1:c.29+51079_29+51080insTTTTTTTTTTTTTTTTTTTTTTTTTTT

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#.

47 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95475414	Dec 05, 2013 (138)
2	HUMANGENOME_JCVI	ss98214005	Mar 15, 2016 (147)
3	BUSHMAN	ss193946285	Jul 04, 2010 (137)
4	GMI	ss288873007	May 04, 2012 (137)
5	PJP	ss295356648	May 09, 2011 (137)
6	BILGI_BIOE	ss666417108	Apr 25, 2013 (138)
7	SSIP	ss947207015	Oct 12, 2018 (152)
8	EVA_GENOME_DK	ss1577090999	Apr 01, 2015 (144)
9	HAMMER_LAB	ss1805224023	Jan 10, 2018 (151)
10	MCHAISSO	ss3066170555	Nov 08, 2017 (151)
11	EVA_DECODE	ss3720718623	Jul 13, 2019 (153)
12	EVA_DECODE	ss3720718624	Jul 13, 2019 (153)
13	EVA_DECODE	ss3720718625	Jul 13, 2019 (153)
14	EVA_DECODE	ss3720718626	Jul 13, 2019 (153)
15	EVA_DECODE	ss3720718627	Jul 13, 2019 (153)
16	EVA_DECODE	ss3720718633	Jul 13, 2019 (153)
17	EVA	ss3830826495	Apr 26, 2020 (154)
18	EVA	ss3838912292	Apr 26, 2020 (154)
19	EVA	ss3844368910	Apr 26, 2020 (154)
20	GNOMAD	ss4173346085	Apr 26, 2021 (155)
21	GNOMAD	ss4173346086	Apr 26, 2021 (155)
22	GNOMAD	ss4173346087	Apr 26, 2021 (155)
23	GNOMAD	ss4173346088	Apr 26, 2021 (155)
24	GNOMAD	ss4173346090	Apr 26, 2021 (155)
25	GNOMAD	ss4173346091	Apr 26, 2021 (155)
26	GNOMAD	ss4173346092	Apr 26, 2021 (155)
27	GNOMAD	ss4173346093	Apr 26, 2021 (155)
28	GNOMAD	ss4173346094	Apr 26, 2021 (155)
29	GNOMAD	ss4173346095	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5185645755	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5185645756	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5185645757	Apr 26, 2021 (155)
33	TOMMO_GENOMICS	ss5185645758	Apr 26, 2021 (155)
34	1000G_HIGH_COVERAGE	ss5274786448	Oct 13, 2022 (156)
35	1000G_HIGH_COVERAGE	ss5274786449	Oct 13, 2022 (156)
36	1000G_HIGH_COVERAGE	ss5274786450	Oct 13, 2022 (156)
37	HUGCELL_USP	ss5471667217	Oct 13, 2022 (156)
38	HUGCELL_USP	ss5471667219	Oct 13, 2022 (156)
39	HUGCELL_USP	ss5471667220	Oct 13, 2022 (156)
40	HUGCELL_USP	ss5471667221	Oct 13, 2022 (156)
41	HUGCELL_USP	ss5471667222	Oct 13, 2022 (156)
42	TOMMO_GENOMICS	ss5726659014	Oct 13, 2022 (156)
43	TOMMO_GENOMICS	ss5726659015	Oct 13, 2022 (156)
44	TOMMO_GENOMICS	ss5726659017	Oct 13, 2022 (156)
45	TOMMO_GENOMICS	ss5726659018	Oct 13, 2022 (156)
46	EVA	ss5856102262	Oct 13, 2022 (156)
47	EVA	ss5860938284	Oct 13, 2022 (156)
48	The Danish reference pan genome	NC_000007.13 - 130878763	Apr 26, 2020 (154)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 277059484 (NC_000007.14:131194003::T 14106/117722) Row 277059485 (NC_000007.14:131194003::TT 362/117826) Row 277059486 (NC_000007.14:131194003::TTT 7/117848)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 277059484 (NC_000007.14:131194003::T 14106/117722) Row 277059485 (NC_000007.14:131194003::TT 362/117826) Row 277059486 (NC_000007.14:131194003::TTT 7/117848)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 277059484 (NC_000007.14:131194003::T 14106/117722) Row 277059485 (NC_000007.14:131194003::TT 362/117826) Row 277059486 (NC_000007.14:131194003::TTT 7/117848)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 277059484 (NC_000007.14:131194003::T 14106/117722) Row 277059485 (NC_000007.14:131194003::TT 362/117826) Row 277059486 (NC_000007.14:131194003::TTT 7/117848)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 277059484 (NC_000007.14:131194003::T 14106/117722) Row 277059485 (NC_000007.14:131194003::TT 362/117826) Row 277059486 (NC_000007.14:131194003::TTT 7/117848)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 277059484 (NC_000007.14:131194003::T 14106/117722) Row 277059485 (NC_000007.14:131194003::TT 362/117826) Row 277059486 (NC_000007.14:131194003::TTT 7/117848)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 277059484 (NC_000007.14:131194003::T 14106/117722) Row 277059485 (NC_000007.14:131194003::TT 362/117826) Row 277059486 (NC_000007.14:131194003::TTT 7/117848)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 277059484 (NC_000007.14:131194003::T 14106/117722) Row 277059485 (NC_000007.14:131194003::TT 362/117826) Row 277059486 (NC_000007.14:131194003::TTT 7/117848)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 277059484 (NC_000007.14:131194003::T 14106/117722) Row 277059485 (NC_000007.14:131194003::TT 362/117826) Row 277059486 (NC_000007.14:131194003::TTT 7/117848)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 277059484 (NC_000007.14:131194003::T 14106/117722) Row 277059485 (NC_000007.14:131194003::TT 362/117826) Row 277059486 (NC_000007.14:131194003::TTT 7/117848)...	-	Apr 26, 2021 (155)
59	8.3KJPN Submission ignored due to conflicting rows: Row 43615062 (NC_000007.13:130878762::T 5683/16662) Row 43615063 (NC_000007.13:130878762:T: 2327/16662) Row 43615064 (NC_000007.13:130878762::TT 65/16662)...	-	Apr 26, 2021 (155)
60	8.3KJPN Submission ignored due to conflicting rows: Row 43615062 (NC_000007.13:130878762::T 5683/16662) Row 43615063 (NC_000007.13:130878762:T: 2327/16662) Row 43615064 (NC_000007.13:130878762::TT 65/16662)...	-	Apr 26, 2021 (155)
61	8.3KJPN Submission ignored due to conflicting rows: Row 43615062 (NC_000007.13:130878762::T 5683/16662) Row 43615063 (NC_000007.13:130878762:T: 2327/16662) Row 43615064 (NC_000007.13:130878762::TT 65/16662)...	-	Apr 26, 2021 (155)
62	8.3KJPN Submission ignored due to conflicting rows: Row 43615062 (NC_000007.13:130878762::T 5683/16662) Row 43615063 (NC_000007.13:130878762:T: 2327/16662) Row 43615064 (NC_000007.13:130878762::TT 65/16662)...	-	Apr 26, 2021 (155)
63	14KJPN Submission ignored due to conflicting rows: Row 60496118 (NC_000007.14:131194003:T: 4059/28248) Row 60496119 (NC_000007.14:131194003::T 9733/28248) Row 60496121 (NC_000007.14:131194003::TT 113/28248)...	-	Oct 13, 2022 (156)
64	14KJPN Submission ignored due to conflicting rows: Row 60496118 (NC_000007.14:131194003:T: 4059/28248) Row 60496119 (NC_000007.14:131194003::T 9733/28248) Row 60496121 (NC_000007.14:131194003::TT 113/28248)...	-	Oct 13, 2022 (156)
65	14KJPN Submission ignored due to conflicting rows: Row 60496118 (NC_000007.14:131194003:T: 4059/28248) Row 60496119 (NC_000007.14:131194003::T 9733/28248) Row 60496121 (NC_000007.14:131194003::TT 113/28248)...	-	Oct 13, 2022 (156)
66	14KJPN Submission ignored due to conflicting rows: Row 60496118 (NC_000007.14:131194003:T: 4059/28248) Row 60496119 (NC_000007.14:131194003::T 9733/28248) Row 60496121 (NC_000007.14:131194003::TT 113/28248)...	-	Oct 13, 2022 (156)
67	ALFA	NC_000007.14 - 131194004	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)
rs72127455	May 11, 2012 (137)
rs113519651	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4173346095	NC_000007.14:131194003:TTTTTTT:	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss3830826495	NC_000007.13:130878762:TTTTTT:	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss3066170555, ss4173346094, ss5274786450, ss5471667222, ss5860938284	NC_000007.14:131194003:TTTTTT:	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
4486207584	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss3720718623, ss4173346093	NC_000007.14:131194003:TTTTT:	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
4486207584	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4173346092	NC_000007.14:131194003:TTT:	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
4486207584	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss1805224023, ss5185645758	NC_000007.13:130878762:TT:	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4173346091, ss5471667221, ss5726659018	NC_000007.14:131194003:TT:	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
4486207584	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3720718624	NC_000007.14:131194006:TT:	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss288873007, ss295356648	NC_000007.12:130529302:T:	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
1184743, ss1577090999, ss3838912292, ss5185645756	NC_000007.13:130878762:T:	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3844368910, ss4173346090, ss5274786448, ss5471667217, ss5726659014, ss5856102262	NC_000007.14:131194003:T:	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
4486207584	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3720718625	NC_000007.14:131194007:T:	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss98214005	NT_007933.15:68911609:T:	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss95475414	NT_007933.15:68911621:T:	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss193946285	NT_007933.16:68687224:T:	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss666417108, ss5185645755	NC_000007.13:130878762::T	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss947207015	NC_000007.13:130878763::T	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4173346085, ss5274786449, ss5471667219, ss5726659015	NC_000007.14:131194003::T	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
4486207584	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3720718626, ss3720718633	NC_000007.14:131194008::T	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss5185645757	NC_000007.13:130878762::TT	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4173346086, ss5471667220, ss5726659017	NC_000007.14:131194003::TT	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
4486207584	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3720718627	NC_000007.14:131194008::TT	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4173346087	NC_000007.14:131194003::TTT	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
4486207584	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4173346088	NC_000007.14:131194003::TTTT	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
4486207584	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
4486207584	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
4486207584	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:131194003:TTTTTTTTTTT… NC_000007.14:131194003:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs71168387

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs71168387