Name: rs71727126
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.

rs71727126

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr13:40643348-40643363 (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(A)₈ / del(A)₇ / del(A)₆ / delA…
del(A)₈ / del(A)₇ / del(A)₆ / delAA / delA / dupA / dupAA / dupAAA / dup(A)₅ / dup(A)₆ / dup(A)₇ / dup(A)₈ / dup(A)₉ / dup(A)₁₀ / ins(A)₂₂ / ins(A)₂₆
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₇=0.0000 (0/9866, ALFA)
del(A)₆=0.0000 (0/9866, ALFA)
delAA=0.0000 (0/9866, ALFA) (+ 4 more)
delA=0.0000 (0/9866, ALFA)
dupA=0.0000 (0/9866, ALFA)
dupAA=0.0000 (0/9866, ALFA)
dupAAA=0.0000 (0/9866, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: FOXO1 : 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	HWEP
Total	Global	9866	AAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	6998	AAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	2000	AAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African Others	Sub	72	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	1928	AAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
Asian	Sub	92	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	70	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	22	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 1	Sub	94	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 2	Sub	314	AAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	48	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	320	AAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	1.0	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	9866	(A)₁₆=1.0000	del(A)₇=0.0000, del(A)₆=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	European	Sub	6998	(A)₁₆=1.0000	del(A)₇=0.0000, del(A)₆=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	African	Sub	2000	(A)₁₆=1.0000	del(A)₇=0.0000, del(A)₆=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	Other	Sub	320	(A)₁₆=1.000	del(A)₇=0.000, del(A)₆=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Latin American 2	Sub	314	(A)₁₆=1.000	del(A)₇=0.000, del(A)₆=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	94	(A)₁₆=1.00	del(A)₇=0.00, del(A)₆=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Asian	Sub	92	(A)₁₆=1.00	del(A)₇=0.00, del(A)₆=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	South Asian	Sub	48	(A)₁₆=1.00	del(A)₇=0.00, del(A)₆=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00

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 13	NC_000013.11:g.40643356_40643363del
GRCh38.p14 chr 13	NC_000013.11:g.40643357_40643363del
GRCh38.p14 chr 13	NC_000013.11:g.40643358_40643363del
GRCh38.p14 chr 13	NC_000013.11:g.40643362_40643363del
GRCh38.p14 chr 13	NC_000013.11:g.40643363del
GRCh38.p14 chr 13	NC_000013.11:g.40643363dup
GRCh38.p14 chr 13	NC_000013.11:g.40643362_40643363dup
GRCh38.p14 chr 13	NC_000013.11:g.40643361_40643363dup
GRCh38.p14 chr 13	NC_000013.11:g.40643359_40643363dup
GRCh38.p14 chr 13	NC_000013.11:g.40643358_40643363dup
GRCh38.p14 chr 13	NC_000013.11:g.40643357_40643363dup
GRCh38.p14 chr 13	NC_000013.11:g.40643356_40643363dup
GRCh38.p14 chr 13	NC_000013.11:g.40643355_40643363dup
GRCh38.p14 chr 13	NC_000013.11:g.40643354_40643363dup
GRCh38.p14 chr 13	NC_000013.11:g.40643363_40643364insAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 13	NC_000013.11:g.40643363_40643364insAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 13	NC_000013.10:g.41217493_41217500del
GRCh37.p13 chr 13	NC_000013.10:g.41217494_41217500del
GRCh37.p13 chr 13	NC_000013.10:g.41217495_41217500del
GRCh37.p13 chr 13	NC_000013.10:g.41217499_41217500del
GRCh37.p13 chr 13	NC_000013.10:g.41217500del
GRCh37.p13 chr 13	NC_000013.10:g.41217500dup
GRCh37.p13 chr 13	NC_000013.10:g.41217499_41217500dup
GRCh37.p13 chr 13	NC_000013.10:g.41217498_41217500dup
GRCh37.p13 chr 13	NC_000013.10:g.41217496_41217500dup
GRCh37.p13 chr 13	NC_000013.10:g.41217495_41217500dup
GRCh37.p13 chr 13	NC_000013.10:g.41217494_41217500dup
GRCh37.p13 chr 13	NC_000013.10:g.41217493_41217500dup
GRCh37.p13 chr 13	NC_000013.10:g.41217492_41217500dup
GRCh37.p13 chr 13	NC_000013.10:g.41217491_41217500dup
GRCh37.p13 chr 13	NC_000013.10:g.41217500_41217501insAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 13	NC_000013.10:g.41217500_41217501insAAAAAAAAAAAAAAAAAAAAAAAAAA
FOXO1 RefSeqGene (LRG_1409)	NG_023244.1:g.28243_28250del
FOXO1 RefSeqGene (LRG_1409)	NG_023244.1:g.28244_28250del
FOXO1 RefSeqGene (LRG_1409)	NG_023244.1:g.28245_28250del
FOXO1 RefSeqGene (LRG_1409)	NG_023244.1:g.28249_28250del
FOXO1 RefSeqGene (LRG_1409)	NG_023244.1:g.28250del
FOXO1 RefSeqGene (LRG_1409)	NG_023244.1:g.28250dup
FOXO1 RefSeqGene (LRG_1409)	NG_023244.1:g.28249_28250dup
FOXO1 RefSeqGene (LRG_1409)	NG_023244.1:g.28248_28250dup
FOXO1 RefSeqGene (LRG_1409)	NG_023244.1:g.28246_28250dup
FOXO1 RefSeqGene (LRG_1409)	NG_023244.1:g.28245_28250dup
FOXO1 RefSeqGene (LRG_1409)	NG_023244.1:g.28244_28250dup
FOXO1 RefSeqGene (LRG_1409)	NG_023244.1:g.28243_28250dup
FOXO1 RefSeqGene (LRG_1409)	NG_023244.1:g.28242_28250dup
FOXO1 RefSeqGene (LRG_1409)	NG_023244.1:g.28241_28250dup
FOXO1 RefSeqGene (LRG_1409)	NG_023244.1:g.28250_28251insTTTTTTTTTTTTTTTTTTTTTT
FOXO1 RefSeqGene (LRG_1409)	NG_023244.1:g.28250_28251insTTTTTTTTTTTTTTTTTTTTTTTTTT

Gene: FOXO1, forkhead box O1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
FOXO1 transcript	NM_002015.4:c.630+22228_6… NM_002015.4:c.630+22228_630+22235del	N/A	Intron Variant
FOXO1 transcript variant X2	XM_047430204.1:c.-82+1984… XM_047430204.1:c.-82+1984_-82+1991del	N/A	Intron Variant
FOXO1 transcript variant X1	XM_011535008.3:c.	N/A	Genic Upstream Transcript Variant
FOXO1 transcript variant X3	XM_011535010.3: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	(A)₁₆=	del(A)₈	del(A)₇	del(A)₆	delAA	delA	dupA	dupAA	dupAAA	dup(A)₅	dup(A)₆	dup(A)₇	dup(A)₈	dup(A)₉	dup(A)₁₀	ins(A)₂₂	ins(A)₂₆
GRCh38.p14 chr 13	NC_000013.11:g.40643348_40643363=	NC_000013.11:g.40643356_40643363del	NC_000013.11:g.40643357_40643363del	NC_000013.11:g.40643358_40643363del	NC_000013.11:g.40643362_40643363del	NC_000013.11:g.40643363del	NC_000013.11:g.40643363dup	NC_000013.11:g.40643362_40643363dup	NC_000013.11:g.40643361_40643363dup	NC_000013.11:g.40643359_40643363dup	NC_000013.11:g.40643358_40643363dup	NC_000013.11:g.40643357_40643363dup	NC_000013.11:g.40643356_40643363dup	NC_000013.11:g.40643355_40643363dup	NC_000013.11:g.40643354_40643363dup	NC_000013.11:g.40643363_40643364insAAAAAAAAAAAAAAAAAAAAAA	NC_000013.11:g.40643363_40643364insAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 13	NC_000013.10:g.41217485_41217500=	NC_000013.10:g.41217493_41217500del	NC_000013.10:g.41217494_41217500del	NC_000013.10:g.41217495_41217500del	NC_000013.10:g.41217499_41217500del	NC_000013.10:g.41217500del	NC_000013.10:g.41217500dup	NC_000013.10:g.41217499_41217500dup	NC_000013.10:g.41217498_41217500dup	NC_000013.10:g.41217496_41217500dup	NC_000013.10:g.41217495_41217500dup	NC_000013.10:g.41217494_41217500dup	NC_000013.10:g.41217493_41217500dup	NC_000013.10:g.41217492_41217500dup	NC_000013.10:g.41217491_41217500dup	NC_000013.10:g.41217500_41217501insAAAAAAAAAAAAAAAAAAAAAA	NC_000013.10:g.41217500_41217501insAAAAAAAAAAAAAAAAAAAAAAAAAA
FOXO1 RefSeqGene (LRG_1409)	NG_023244.1:g.28235_28250=	NG_023244.1:g.28243_28250del	NG_023244.1:g.28244_28250del	NG_023244.1:g.28245_28250del	NG_023244.1:g.28249_28250del	NG_023244.1:g.28250del	NG_023244.1:g.28250dup	NG_023244.1:g.28249_28250dup	NG_023244.1:g.28248_28250dup	NG_023244.1:g.28246_28250dup	NG_023244.1:g.28245_28250dup	NG_023244.1:g.28244_28250dup	NG_023244.1:g.28243_28250dup	NG_023244.1:g.28242_28250dup	NG_023244.1:g.28241_28250dup	NG_023244.1:g.28250_28251insTTTTTTTTTTTTTTTTTTTTTT	NG_023244.1:g.28250_28251insTTTTTTTTTTTTTTTTTTTTTTTTTT
FOXO1 transcript	NM_002015.3:c.630+22235=	NM_002015.3:c.630+22228_630+22235del	NM_002015.3:c.630+22229_630+22235del	NM_002015.3:c.630+22230_630+22235del	NM_002015.3:c.630+22234_630+22235del	NM_002015.3:c.630+22235del	NM_002015.3:c.630+22235dup	NM_002015.3:c.630+22234_630+22235dup	NM_002015.3:c.630+22233_630+22235dup	NM_002015.3:c.630+22231_630+22235dup	NM_002015.3:c.630+22230_630+22235dup	NM_002015.3:c.630+22229_630+22235dup	NM_002015.3:c.630+22228_630+22235dup	NM_002015.3:c.630+22227_630+22235dup	NM_002015.3:c.630+22226_630+22235dup	NM_002015.3:c.630+22235_630+22236insTTTTTTTTTTTTTTTTTTTTTT	NM_002015.3:c.630+22235_630+22236insTTTTTTTTTTTTTTTTTTTTTTTTTT
FOXO1 transcript	NM_002015.4:c.630+22235=	NM_002015.4:c.630+22228_630+22235del	NM_002015.4:c.630+22229_630+22235del	NM_002015.4:c.630+22230_630+22235del	NM_002015.4:c.630+22234_630+22235del	NM_002015.4:c.630+22235del	NM_002015.4:c.630+22235dup	NM_002015.4:c.630+22234_630+22235dup	NM_002015.4:c.630+22233_630+22235dup	NM_002015.4:c.630+22231_630+22235dup	NM_002015.4:c.630+22230_630+22235dup	NM_002015.4:c.630+22229_630+22235dup	NM_002015.4:c.630+22228_630+22235dup	NM_002015.4:c.630+22227_630+22235dup	NM_002015.4:c.630+22226_630+22235dup	NM_002015.4:c.630+22235_630+22236insTTTTTTTTTTTTTTTTTTTTTT	NM_002015.4:c.630+22235_630+22236insTTTTTTTTTTTTTTTTTTTTTTTTTT
FOXO1 transcript variant X2	XM_047430204.1:c.-82+1991=	XM_047430204.1:c.-82+1984_-82+1991del	XM_047430204.1:c.-82+1985_-82+1991del	XM_047430204.1:c.-82+1986_-82+1991del	XM_047430204.1:c.-82+1990_-82+1991del	XM_047430204.1:c.-82+1991del	XM_047430204.1:c.-82+1991dup	XM_047430204.1:c.-82+1990_-82+1991dup	XM_047430204.1:c.-82+1989_-82+1991dup	XM_047430204.1:c.-82+1987_-82+1991dup	XM_047430204.1:c.-82+1986_-82+1991dup	XM_047430204.1:c.-82+1985_-82+1991dup	XM_047430204.1:c.-82+1984_-82+1991dup	XM_047430204.1:c.-82+1983_-82+1991dup	XM_047430204.1:c.-82+1982_-82+1991dup	XM_047430204.1:c.-82+1991_-82+1992insTTTTTTTTTTTTTTTTTTTTTT	XM_047430204.1:c.-82+1991_-82+1992insTTTTTTTTTTTTTTTTTTTTTTTTTT

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, 33 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	PJP	ss294793825	May 09, 2011 (137)
2	SSIP	ss947313167	Aug 21, 2014 (142)
3	MCHAISSO	ss3065516946	Nov 08, 2017 (151)
4	ACPOP	ss3739689718	Jul 13, 2019 (153)
5	ACPOP	ss3739689719	Jul 13, 2019 (153)
6	ACPOP	ss3739689720	Jul 13, 2019 (153)
7	PACBIO	ss3787439142	Jul 13, 2019 (153)
8	PACBIO	ss3792508355	Jul 13, 2019 (153)
9	PACBIO	ss3797392135	Jul 13, 2019 (153)
10	EVA	ss3833512887	Apr 27, 2020 (154)
11	KOGIC	ss3973431209	Apr 27, 2020 (154)
12	KOGIC	ss3973431210	Apr 27, 2020 (154)
13	GNOMAD	ss4264707671	Apr 26, 2021 (155)
14	GNOMAD	ss4264707672	Apr 26, 2021 (155)
15	GNOMAD	ss4264707673	Apr 26, 2021 (155)
16	GNOMAD	ss4264707674	Apr 26, 2021 (155)
17	GNOMAD	ss4264707675	Apr 26, 2021 (155)
18	GNOMAD	ss4264707676	Apr 26, 2021 (155)
19	GNOMAD	ss4264707677	Apr 26, 2021 (155)
20	GNOMAD	ss4264707678	Apr 26, 2021 (155)
21	GNOMAD	ss4264707679	Apr 26, 2021 (155)
22	GNOMAD	ss4264707680	Apr 26, 2021 (155)
23	GNOMAD	ss4264707681	Apr 26, 2021 (155)
24	GNOMAD	ss4264707682	Apr 26, 2021 (155)
25	GNOMAD	ss4264707683	Apr 26, 2021 (155)
26	GNOMAD	ss4264707684	Apr 26, 2021 (155)
27	GNOMAD	ss4264707685	Apr 26, 2021 (155)
28	TOPMED	ss4943977587	Apr 26, 2021 (155)
29	TOPMED	ss4943977588	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5209694751	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5209694752	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5209694753	Apr 26, 2021 (155)
33	TOMMO_GENOMICS	ss5209694754	Apr 26, 2021 (155)
34	TOMMO_GENOMICS	ss5209694755	Apr 26, 2021 (155)
35	1000G_HIGH_COVERAGE	ss5293504690	Oct 16, 2022 (156)
36	1000G_HIGH_COVERAGE	ss5293504691	Oct 16, 2022 (156)
37	1000G_HIGH_COVERAGE	ss5293504692	Oct 16, 2022 (156)
38	1000G_HIGH_COVERAGE	ss5293504693	Oct 16, 2022 (156)
39	1000G_HIGH_COVERAGE	ss5293504694	Oct 16, 2022 (156)
40	HUGCELL_USP	ss5487892296	Oct 16, 2022 (156)
41	HUGCELL_USP	ss5487892298	Oct 16, 2022 (156)
42	HUGCELL_USP	ss5487892299	Oct 16, 2022 (156)
43	TOMMO_GENOMICS	ss5761483216	Oct 16, 2022 (156)
44	TOMMO_GENOMICS	ss5761483218	Oct 16, 2022 (156)
45	TOMMO_GENOMICS	ss5761483219	Oct 16, 2022 (156)
46	TOMMO_GENOMICS	ss5761483221	Oct 16, 2022 (156)
47	EVA	ss5839385624	Oct 16, 2022 (156)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428823417 (NC_000013.11:40643347::A 23209/83662) Row 428823418 (NC_000013.11:40643347::AA 56/83658) Row 428823419 (NC_000013.11:40643347::AAA 1/83662)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428823417 (NC_000013.11:40643347::A 23209/83662) Row 428823418 (NC_000013.11:40643347::AA 56/83658) Row 428823419 (NC_000013.11:40643347::AAA 1/83662)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428823417 (NC_000013.11:40643347::A 23209/83662) Row 428823418 (NC_000013.11:40643347::AA 56/83658) Row 428823419 (NC_000013.11:40643347::AAA 1/83662)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428823417 (NC_000013.11:40643347::A 23209/83662) Row 428823418 (NC_000013.11:40643347::AA 56/83658) Row 428823419 (NC_000013.11:40643347::AAA 1/83662)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428823417 (NC_000013.11:40643347::A 23209/83662) Row 428823418 (NC_000013.11:40643347::AA 56/83658) Row 428823419 (NC_000013.11:40643347::AAA 1/83662)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428823417 (NC_000013.11:40643347::A 23209/83662) Row 428823418 (NC_000013.11:40643347::AA 56/83658) Row 428823419 (NC_000013.11:40643347::AAA 1/83662)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428823417 (NC_000013.11:40643347::A 23209/83662) Row 428823418 (NC_000013.11:40643347::AA 56/83658) Row 428823419 (NC_000013.11:40643347::AAA 1/83662)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428823417 (NC_000013.11:40643347::A 23209/83662) Row 428823418 (NC_000013.11:40643347::AA 56/83658) Row 428823419 (NC_000013.11:40643347::AAA 1/83662)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428823417 (NC_000013.11:40643347::A 23209/83662) Row 428823418 (NC_000013.11:40643347::AA 56/83658) Row 428823419 (NC_000013.11:40643347::AAA 1/83662)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428823417 (NC_000013.11:40643347::A 23209/83662) Row 428823418 (NC_000013.11:40643347::AA 56/83658) Row 428823419 (NC_000013.11:40643347::AAA 1/83662)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428823417 (NC_000013.11:40643347::A 23209/83662) Row 428823418 (NC_000013.11:40643347::AA 56/83658) Row 428823419 (NC_000013.11:40643347::AAA 1/83662)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428823417 (NC_000013.11:40643347::A 23209/83662) Row 428823418 (NC_000013.11:40643347::AA 56/83658) Row 428823419 (NC_000013.11:40643347::AAA 1/83662)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428823417 (NC_000013.11:40643347::A 23209/83662) Row 428823418 (NC_000013.11:40643347::AA 56/83658) Row 428823419 (NC_000013.11:40643347::AAA 1/83662)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428823417 (NC_000013.11:40643347::A 23209/83662) Row 428823418 (NC_000013.11:40643347::AA 56/83658) Row 428823419 (NC_000013.11:40643347::AAA 1/83662)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428823417 (NC_000013.11:40643347::A 23209/83662) Row 428823418 (NC_000013.11:40643347::AA 56/83658) Row 428823419 (NC_000013.11:40643347::AAA 1/83662)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 428823417 (NC_000013.11:40643347::A 23209/83662) Row 428823418 (NC_000013.11:40643347::AA 56/83658) Row 428823419 (NC_000013.11:40643347::AAA 1/83662)...	-	Apr 26, 2021 (155)
64	Korean Genome Project Submission ignored due to conflicting rows: Row 29809210 (NC_000013.11:40643348::A 280/1826) Row 29809211 (NC_000013.11:40643347:A: 119/1826)	-	Apr 27, 2020 (154)
65	Korean Genome Project Submission ignored due to conflicting rows: Row 29809210 (NC_000013.11:40643348::A 280/1826) Row 29809211 (NC_000013.11:40643347:A: 119/1826)	-	Apr 27, 2020 (154)
66	Northern Sweden Submission ignored due to conflicting rows: Row 12974583 (NC_000013.10:41217484::A 92/558) Row 12974584 (NC_000013.10:41217484::AAAAAAAAAA 10/558) Row 12974585 (NC_000013.10:41217484::AAAAAA 6/558)	-	Jul 13, 2019 (153)
67	Northern Sweden Submission ignored due to conflicting rows: Row 12974583 (NC_000013.10:41217484::A 92/558) Row 12974584 (NC_000013.10:41217484::AAAAAAAAAA 10/558) Row 12974585 (NC_000013.10:41217484::AAAAAA 6/558)	-	Jul 13, 2019 (153)
68	Northern Sweden Submission ignored due to conflicting rows: Row 12974583 (NC_000013.10:41217484::A 92/558) Row 12974584 (NC_000013.10:41217484::AAAAAAAAAA 10/558) Row 12974585 (NC_000013.10:41217484::AAAAAA 6/558)	-	Jul 13, 2019 (153)
69	8.3KJPN Submission ignored due to conflicting rows: Row 67664058 (NC_000013.10:41217484::A 922/16736) Row 67664059 (NC_000013.10:41217484::AAAAAA 8/16736) Row 67664060 (NC_000013.10:41217484:A: 25/16736)...	-	Apr 26, 2021 (155)
70	8.3KJPN Submission ignored due to conflicting rows: Row 67664058 (NC_000013.10:41217484::A 922/16736) Row 67664059 (NC_000013.10:41217484::AAAAAA 8/16736) Row 67664060 (NC_000013.10:41217484:A: 25/16736)...	-	Apr 26, 2021 (155)
71	8.3KJPN Submission ignored due to conflicting rows: Row 67664058 (NC_000013.10:41217484::A 922/16736) Row 67664059 (NC_000013.10:41217484::AAAAAA 8/16736) Row 67664060 (NC_000013.10:41217484:A: 25/16736)...	-	Apr 26, 2021 (155)
72	8.3KJPN Submission ignored due to conflicting rows: Row 67664058 (NC_000013.10:41217484::A 922/16736) Row 67664059 (NC_000013.10:41217484::AAAAAA 8/16736) Row 67664060 (NC_000013.10:41217484:A: 25/16736)...	-	Apr 26, 2021 (155)
73	8.3KJPN Submission ignored due to conflicting rows: Row 67664058 (NC_000013.10:41217484::A 922/16736) Row 67664059 (NC_000013.10:41217484::AAAAAA 8/16736) Row 67664060 (NC_000013.10:41217484:A: 25/16736)...	-	Apr 26, 2021 (155)
74	14KJPN Submission ignored due to conflicting rows: Row 95320320 (NC_000013.11:40643347::A 1561/28256) Row 95320322 (NC_000013.11:40643347:A: 43/28256) Row 95320323 (NC_000013.11:40643347::AAAAAA 5/28256)...	-	Oct 16, 2022 (156)
75	14KJPN Submission ignored due to conflicting rows: Row 95320320 (NC_000013.11:40643347::A 1561/28256) Row 95320322 (NC_000013.11:40643347:A: 43/28256) Row 95320323 (NC_000013.11:40643347::AAAAAA 5/28256)...	-	Oct 16, 2022 (156)
76	14KJPN Submission ignored due to conflicting rows: Row 95320320 (NC_000013.11:40643347::A 1561/28256) Row 95320322 (NC_000013.11:40643347:A: 43/28256) Row 95320323 (NC_000013.11:40643347::AAAAAA 5/28256)...	-	Oct 16, 2022 (156)
77	14KJPN Submission ignored due to conflicting rows: Row 95320320 (NC_000013.11:40643347::A 1561/28256) Row 95320322 (NC_000013.11:40643347:A: 43/28256) Row 95320323 (NC_000013.11:40643347::AAAAAA 5/28256)...	-	Oct 16, 2022 (156)
78	TopMed Submission ignored due to conflicting rows: Row 159523245 (NC_000013.11:40643347:AAAAAA: 32/264690) Row 159523246 (NC_000013.11:40643347:AAAAAAA: 583/264690)	-	Apr 26, 2021 (155)
79	TopMed Submission ignored due to conflicting rows: Row 159523245 (NC_000013.11:40643347:AAAAAA: 32/264690) Row 159523246 (NC_000013.11:40643347:AAAAAAA: 583/264690)	-	Apr 26, 2021 (155)
80	ALFA	NC_000013.11 - 40643348	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)
rs71776455	May 11, 2012 (137)
rs141690430	Sep 17, 2011 (135)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4264707685	NC_000013.11:40643347:AAAAAAAA:	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAA	(self)
ss5209694755, ss5839385624	NC_000013.10:41217484:AAAAAAA:	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss4264707684, ss4943977588, ss5293504694, ss5487892299, ss5761483221	NC_000013.11:40643347:AAAAAAA:	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
13691787123	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAA	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss4264707683, ss4943977587, ss5293504693	NC_000013.11:40643347:AAAAAA:	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
13691787123	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4264707682	NC_000013.11:40643347:AA:	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
13691787123	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss5209694753	NC_000013.10:41217484:A:	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3973431210, ss5293504691, ss5487892298, ss5761483218	NC_000013.11:40643347:A:	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
13691787123	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss294793825	NC_000013.9:40115485::A	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3739689718, ss3787439142, ss3792508355, ss3797392135, ss3833512887, ss5209694751	NC_000013.10:41217484::A	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss947313167	NC_000013.10:41217485::A	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4264707671, ss5293504690, ss5487892296, ss5761483216	NC_000013.11:40643347::A	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
13691787123	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3973431209	NC_000013.11:40643348::A	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4264707672, ss5293504692	NC_000013.11:40643347::AA	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
13691787123	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4264707673	NC_000013.11:40643347::AAA	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
13691787123	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5209694754	NC_000013.10:41217484::AAAAA	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4264707674	NC_000013.11:40643347::AAAAA	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3739689720, ss5209694752	NC_000013.10:41217484::AAAAAA	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4264707675, ss5761483219	NC_000013.11:40643347::AAAAAA	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4264707676	NC_000013.11:40643347::AAAAAAA	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3065516946, ss4264707677	NC_000013.11:40643347::AAAAAAAA	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4264707678	NC_000013.11:40643347::AAAAAAAAA	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3739689719	NC_000013.10:41217484::AAAAAAAAAA	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4264707679	NC_000013.11:40643347::AAAAAAAAAA	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4264707680	NC_000013.11:40643347::AAAAAAAAAAA… NC_000013.11:40643347::AAAAAAAAAAAAAAAAAAAAAA	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4264707681	NC_000013.11:40643347::AAAAAAAAAAA… NC_000013.11:40643347::AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000013.11:40643347:AAAAAAAAAAAA… NC_000013.11:40643347:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs71727126

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

rs71727126