Name: rs58252714
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.

rs58252714

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr8:132746489-132746497 (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: delTA / dupTA / insTAC(AT)₅A / ins…
delTA / dupTA / insTAC(AT)₅A / ins(TACATATATATA)₂TA / ins(TACATATATATA)₃TA / insTAC(AT)₄G(TA)₆C(AT)₅A / dupTATA
Variation Type: Indel Insertion and Deletion
Frequency: delTA=0.0000 (0/7756, ALFA)
dupTA=0.0000 (0/7756, ALFA)
insTAC(AT)₅A=0.0000 (0/7756, ALFA) (+ 2 more)
dupTATA=0.0000 (0/7756, ALFA)
dupTA=0.189 (45/238, NorthernSweden)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: TMEM71 : 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	7756	ATATATATA=1.0000	ATATATA=0.0000, ATATATATATA=0.0000, ATATATATATACATATATATATA=0.0000, ATATATATATATA=0.0000	1.0	N/A
European	Sub	5610	ATATATATA=1.0000	ATATATA=0.0000, ATATATATATA=0.0000, ATATATATATACATATATATATA=0.0000, ATATATATATATA=0.0000	1.0	N/A
African	Sub	1192	ATATATATA=1.0000	ATATATA=0.0000, ATATATATATA=0.0000, ATATATATATACATATATATATA=0.0000, ATATATATATATA=0.0000	1.0	N/A
African Others	Sub	40	ATATATATA=1.00	ATATATA=0.00, ATATATATATA=0.00, ATATATATATACATATATATATA=0.00, ATATATATATATA=0.00	1.0	N/A
African American	Sub	1152	ATATATATA=1.0000	ATATATA=0.0000, ATATATATATA=0.0000, ATATATATATACATATATATATA=0.0000, ATATATATATATA=0.0000	1.0	N/A
Asian	Sub	58	ATATATATA=1.00	ATATATA=0.00, ATATATATATA=0.00, ATATATATATACATATATATATA=0.00, ATATATATATATA=0.00	1.0	N/A
East Asian	Sub	38	ATATATATA=1.00	ATATATA=0.00, ATATATATATA=0.00, ATATATATATACATATATATATA=0.00, ATATATATATATA=0.00	1.0	N/A
Other Asian	Sub	20	ATATATATA=1.00	ATATATA=0.00, ATATATATATA=0.00, ATATATATATACATATATATATA=0.00, ATATATATATATA=0.00	1.0	N/A
Latin American 1	Sub	94	ATATATATA=1.00	ATATATA=0.00, ATATATATATA=0.00, ATATATATATACATATATATATA=0.00, ATATATATATATA=0.00	1.0	N/A
Latin American 2	Sub	428	ATATATATA=1.000	ATATATA=0.000, ATATATATATA=0.000, ATATATATATACATATATATATA=0.000, ATATATATATATA=0.000	1.0	N/A
South Asian	Sub	74	ATATATATA=1.00	ATATATA=0.00, ATATATATATA=0.00, ATATATATATACATATATATATA=0.00, ATATATATATATA=0.00	1.0	N/A
Other	Sub	300	ATATATATA=1.000	ATATATA=0.000, ATATATATATA=0.000, ATATATATATACATATATATATA=0.000, ATATATATATATA=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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	7756	(AT)₄A=1.0000	delTA=0.0000, dupTA=0.0000, insTAC(AT)₅A=0.0000, dupTATA=0.0000
Allele Frequency Aggregator	European	Sub	5610	(AT)₄A=1.0000	delTA=0.0000, dupTA=0.0000, insTAC(AT)₅A=0.0000, dupTATA=0.0000
Allele Frequency Aggregator	African	Sub	1192	(AT)₄A=1.0000	delTA=0.0000, dupTA=0.0000, insTAC(AT)₅A=0.0000, dupTATA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	428	(AT)₄A=1.000	delTA=0.000, dupTA=0.000, insTAC(AT)₅A=0.000, dupTATA=0.000
Allele Frequency Aggregator	Other	Sub	300	(AT)₄A=1.000	delTA=0.000, dupTA=0.000, insTAC(AT)₅A=0.000, dupTATA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	94	(AT)₄A=1.00	delTA=0.00, dupTA=0.00, insTAC(AT)₅A=0.00, dupTATA=0.00
Allele Frequency Aggregator	South Asian	Sub	74	(AT)₄A=1.00	delTA=0.00, dupTA=0.00, insTAC(AT)₅A=0.00, dupTATA=0.00
Allele Frequency Aggregator	Asian	Sub	58	(AT)₄A=1.00	delTA=0.00, dupTA=0.00, insTAC(AT)₅A=0.00, dupTATA=0.00
Northern Sweden	ACPOP	Study-wide	238	- No frequency provided	dupTA=0.189

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 8	NC_000008.11:g.132746490TA[3]
GRCh38.p14 chr 8	NC_000008.11:g.132746490TA[5]
GRCh38.p14 chr 8	NC_000008.11:g.132746489_132746497AT[5]ACATATATATATA[1]
GRCh38.p14 chr 8	NC_000008.11:g.132746489_132746497ATATATATATAC[2]AT[5]A[1]
GRCh38.p14 chr 8	NC_000008.11:g.132746489_132746497ATATATATATAC[3]AT[5]A[1]
GRCh38.p14 chr 8	NC_000008.11:g.132746489_132746497AT[5]ACATATATATGTATATATATATACATATATATATA[1]
GRCh38.p14 chr 8	NC_000008.11:g.132746490TA[6]
GRCh37.p13 chr 8	NC_000008.10:g.133758736TA[3]
GRCh37.p13 chr 8	NC_000008.10:g.133758736TA[5]
GRCh37.p13 chr 8	NC_000008.10:g.133758735_133758743AT[5]ACATATATATATA[1]
GRCh37.p13 chr 8	NC_000008.10:g.133758735_133758743ATATATATATAC[2]AT[5]A[1]
GRCh37.p13 chr 8	NC_000008.10:g.133758735_133758743ATATATATATAC[3]AT[5]A[1]
GRCh37.p13 chr 8	NC_000008.10:g.133758735_133758743AT[5]ACATATATATGTATATATATATACATATATATATA[1]
GRCh37.p13 chr 8	NC_000008.10:g.133758736TA[6]

Gene: TMEM71, transmembrane protein 71 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TMEM71 transcript variant 2	NM_001145153.2:c.487+446A… NM_001145153.2:c.487+446AT[3]	N/A	Intron Variant
TMEM71 transcript variant 3	NM_001364885.2:c.487+446A… NM_001364885.2:c.487+446AT[3]	N/A	Intron Variant
TMEM71 transcript variant 4	NM_001382396.1:c.487+446A… NM_001382396.1:c.487+446AT[3]	N/A	Intron Variant
TMEM71 transcript variant 5	NM_001382397.1:c.487+446A… NM_001382397.1:c.487+446AT[3]	N/A	Intron Variant
TMEM71 transcript variant 6	NM_001382398.1:c.487+446A… NM_001382398.1:c.487+446AT[3]	N/A	Intron Variant
TMEM71 transcript variant 7	NM_001382399.1:c.493+446A… NM_001382399.1:c.493+446AT[3]	N/A	Intron Variant
TMEM71 transcript variant 8	NM_001382400.1:c.493+446A… NM_001382400.1:c.493+446AT[3]	N/A	Intron Variant
TMEM71 transcript variant 10	NM_001382401.1:c.472+446A… NM_001382401.1:c.472+446AT[3]	N/A	Intron Variant
TMEM71 transcript variant 11	NM_001382402.1:c.487+446A… NM_001382402.1:c.487+446AT[3]	N/A	Intron Variant
TMEM71 transcript variant 9	NM_001382403.1:c.487+446A… NM_001382403.1:c.487+446AT[3]	N/A	Intron Variant
TMEM71 transcript variant 12	NM_001382404.1:c.487+446A… NM_001382404.1:c.487+446AT[3]	N/A	Intron Variant
TMEM71 transcript variant 13	NM_001382405.1:c.487+446A… NM_001382405.1:c.487+446AT[3]	N/A	Intron Variant
TMEM71 transcript variant 1	NM_144649.3:c.430+446AT[3]	N/A	Intron Variant
TMEM71 transcript variant X1	XM_047421363.1:c.430+446A… XM_047421363.1:c.430+446AT[3]	N/A	Intron Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(AT)₄A=	delTA	dupTA	insTAC(AT)₅A	ins(TACATATATATA)₂TA	ins(TACATATATATA)₃TA	insTAC(AT)₄G(TA)₆C(AT)₅A	dupTATA
GRCh38.p14 chr 8	NC_000008.11:g.132746489_132746497=	NC_000008.11:g.132746490TA[3]	NC_000008.11:g.132746490TA[5]	NC_000008.11:g.132746489_132746497AT[5]ACATATATATATA[1]	NC_000008.11:g.132746489_132746497ATATATATATAC[2]AT[5]A[1]	NC_000008.11:g.132746489_132746497ATATATATATAC[3]AT[5]A[1]	NC_000008.11:g.132746489_132746497AT[5]ACATATATATGTATATATATATACATATATATATA[1]	NC_000008.11:g.132746490TA[6]
GRCh37.p13 chr 8	NC_000008.10:g.133758735_133758743=	NC_000008.10:g.133758736TA[3]	NC_000008.10:g.133758736TA[5]	NC_000008.10:g.133758735_133758743AT[5]ACATATATATATA[1]	NC_000008.10:g.133758735_133758743ATATATATATAC[2]AT[5]A[1]	NC_000008.10:g.133758735_133758743ATATATATATAC[3]AT[5]A[1]	NC_000008.10:g.133758735_133758743AT[5]ACATATATATGTATATATATATACATATATATATA[1]	NC_000008.10:g.133758736TA[6]
TMEM71 transcript variant 2	NM_001145153.1:c.487+453=	NM_001145153.1:c.487+446AT[3]	NM_001145153.1:c.487+446AT[5]	NM_001145153.1:c.487+453_487+454insTATATATATATGTA	NM_001145153.1:c.487+453_487+454insTATATATATATGTATATATATATGTA	NM_001145153.1:c.487+453_487+454insTATATATATATGTATATATATATGTATATATATATGTA	NM_001145153.1:c.487+453_487+454insTATATATATATGTATATATATATACATATATATGTA	NM_001145153.1:c.487+446AT[6]
TMEM71 transcript variant 2	NM_001145153.2:c.487+453=	NM_001145153.2:c.487+446AT[3]	NM_001145153.2:c.487+446AT[5]	NM_001145153.2:c.487+453_487+454insTATATATATATGTA	NM_001145153.2:c.487+453_487+454insTATATATATATGTATATATATATGTA	NM_001145153.2:c.487+453_487+454insTATATATATATGTATATATATATGTATATATATATGTA	NM_001145153.2:c.487+453_487+454insTATATATATATGTATATATATATACATATATATGTA	NM_001145153.2:c.487+446AT[6]
TMEM71 transcript variant 3	NM_001364885.2:c.487+453=	NM_001364885.2:c.487+446AT[3]	NM_001364885.2:c.487+446AT[5]	NM_001364885.2:c.487+453_487+454insTATATATATATGTA	NM_001364885.2:c.487+453_487+454insTATATATATATGTATATATATATGTA	NM_001364885.2:c.487+453_487+454insTATATATATATGTATATATATATGTATATATATATGTA	NM_001364885.2:c.487+453_487+454insTATATATATATGTATATATATATACATATATATGTA	NM_001364885.2:c.487+446AT[6]
TMEM71 transcript variant 4	NM_001382396.1:c.487+453=	NM_001382396.1:c.487+446AT[3]	NM_001382396.1:c.487+446AT[5]	NM_001382396.1:c.487+453_487+454insTATATATATATGTA	NM_001382396.1:c.487+453_487+454insTATATATATATGTATATATATATGTA	NM_001382396.1:c.487+453_487+454insTATATATATATGTATATATATATGTATATATATATGTA	NM_001382396.1:c.487+453_487+454insTATATATATATGTATATATATATACATATATATGTA	NM_001382396.1:c.487+446AT[6]
TMEM71 transcript variant 5	NM_001382397.1:c.487+453=	NM_001382397.1:c.487+446AT[3]	NM_001382397.1:c.487+446AT[5]	NM_001382397.1:c.487+453_487+454insTATATATATATGTA	NM_001382397.1:c.487+453_487+454insTATATATATATGTATATATATATGTA	NM_001382397.1:c.487+453_487+454insTATATATATATGTATATATATATGTATATATATATGTA	NM_001382397.1:c.487+453_487+454insTATATATATATGTATATATATATACATATATATGTA	NM_001382397.1:c.487+446AT[6]
TMEM71 transcript variant 6	NM_001382398.1:c.487+453=	NM_001382398.1:c.487+446AT[3]	NM_001382398.1:c.487+446AT[5]	NM_001382398.1:c.487+453_487+454insTATATATATATGTA	NM_001382398.1:c.487+453_487+454insTATATATATATGTATATATATATGTA	NM_001382398.1:c.487+453_487+454insTATATATATATGTATATATATATGTATATATATATGTA	NM_001382398.1:c.487+453_487+454insTATATATATATGTATATATATATACATATATATGTA	NM_001382398.1:c.487+446AT[6]
TMEM71 transcript variant 7	NM_001382399.1:c.493+453=	NM_001382399.1:c.493+446AT[3]	NM_001382399.1:c.493+446AT[5]	NM_001382399.1:c.493+453_493+454insTATATATATATGTA	NM_001382399.1:c.493+453_493+454insTATATATATATGTATATATATATGTA	NM_001382399.1:c.493+453_493+454insTATATATATATGTATATATATATGTATATATATATGTA	NM_001382399.1:c.493+453_493+454insTATATATATATGTATATATATATACATATATATGTA	NM_001382399.1:c.493+446AT[6]
TMEM71 transcript variant 8	NM_001382400.1:c.493+453=	NM_001382400.1:c.493+446AT[3]	NM_001382400.1:c.493+446AT[5]	NM_001382400.1:c.493+453_493+454insTATATATATATGTA	NM_001382400.1:c.493+453_493+454insTATATATATATGTATATATATATGTA	NM_001382400.1:c.493+453_493+454insTATATATATATGTATATATATATGTATATATATATGTA	NM_001382400.1:c.493+453_493+454insTATATATATATGTATATATATATACATATATATGTA	NM_001382400.1:c.493+446AT[6]
TMEM71 transcript variant 10	NM_001382401.1:c.472+453=	NM_001382401.1:c.472+446AT[3]	NM_001382401.1:c.472+446AT[5]	NM_001382401.1:c.472+453_472+454insTATATATATATGTA	NM_001382401.1:c.472+453_472+454insTATATATATATGTATATATATATGTA	NM_001382401.1:c.472+453_472+454insTATATATATATGTATATATATATGTATATATATATGTA	NM_001382401.1:c.472+453_472+454insTATATATATATGTATATATATATACATATATATGTA	NM_001382401.1:c.472+446AT[6]
TMEM71 transcript variant 11	NM_001382402.1:c.487+453=	NM_001382402.1:c.487+446AT[3]	NM_001382402.1:c.487+446AT[5]	NM_001382402.1:c.487+453_487+454insTATATATATATGTA	NM_001382402.1:c.487+453_487+454insTATATATATATGTATATATATATGTA	NM_001382402.1:c.487+453_487+454insTATATATATATGTATATATATATGTATATATATATGTA	NM_001382402.1:c.487+453_487+454insTATATATATATGTATATATATATACATATATATGTA	NM_001382402.1:c.487+446AT[6]
TMEM71 transcript variant 9	NM_001382403.1:c.487+453=	NM_001382403.1:c.487+446AT[3]	NM_001382403.1:c.487+446AT[5]	NM_001382403.1:c.487+453_487+454insTATATATATATGTA	NM_001382403.1:c.487+453_487+454insTATATATATATGTATATATATATGTA	NM_001382403.1:c.487+453_487+454insTATATATATATGTATATATATATGTATATATATATGTA	NM_001382403.1:c.487+453_487+454insTATATATATATGTATATATATATACATATATATGTA	NM_001382403.1:c.487+446AT[6]
TMEM71 transcript variant 12	NM_001382404.1:c.487+453=	NM_001382404.1:c.487+446AT[3]	NM_001382404.1:c.487+446AT[5]	NM_001382404.1:c.487+453_487+454insTATATATATATGTA	NM_001382404.1:c.487+453_487+454insTATATATATATGTATATATATATGTA	NM_001382404.1:c.487+453_487+454insTATATATATATGTATATATATATGTATATATATATGTA	NM_001382404.1:c.487+453_487+454insTATATATATATGTATATATATATACATATATATGTA	NM_001382404.1:c.487+446AT[6]
TMEM71 transcript variant 13	NM_001382405.1:c.487+453=	NM_001382405.1:c.487+446AT[3]	NM_001382405.1:c.487+446AT[5]	NM_001382405.1:c.487+453_487+454insTATATATATATGTA	NM_001382405.1:c.487+453_487+454insTATATATATATGTATATATATATGTA	NM_001382405.1:c.487+453_487+454insTATATATATATGTATATATATATGTATATATATATGTA	NM_001382405.1:c.487+453_487+454insTATATATATATGTATATATATATACATATATATGTA	NM_001382405.1:c.487+446AT[6]
TMEM71 transcript variant 1	NM_144649.2:c.430+453=	NM_144649.2:c.430+446AT[3]	NM_144649.2:c.430+446AT[5]	NM_144649.2:c.430+453_430+454insTATATATATATGTA	NM_144649.2:c.430+453_430+454insTATATATATATGTATATATATATGTA	NM_144649.2:c.430+453_430+454insTATATATATATGTATATATATATGTATATATATATGTA	NM_144649.2:c.430+453_430+454insTATATATATATGTATATATATATACATATATATGTA	NM_144649.2:c.430+446AT[6]
TMEM71 transcript variant 1	NM_144649.3:c.430+453=	NM_144649.3:c.430+446AT[3]	NM_144649.3:c.430+446AT[5]	NM_144649.3:c.430+453_430+454insTATATATATATGTA	NM_144649.3:c.430+453_430+454insTATATATATATGTATATATATATGTA	NM_144649.3:c.430+453_430+454insTATATATATATGTATATATATATGTATATATATATGTA	NM_144649.3:c.430+453_430+454insTATATATATATGTATATATATATACATATATATGTA	NM_144649.3:c.430+446AT[6]
TMEM71 transcript variant X1	XM_005250794.1:c.487+453=	XM_005250794.1:c.487+446AT[3]	XM_005250794.1:c.487+446AT[5]	XM_005250794.1:c.487+453_487+454insTATATATATATGTA	XM_005250794.1:c.487+453_487+454insTATATATATATGTATATATATATGTA	XM_005250794.1:c.487+453_487+454insTATATATATATGTATATATATATGTATATATATATGTA	XM_005250794.1:c.487+453_487+454insTATATATATATGTATATATATATACATATATATGTA	XM_005250794.1:c.487+446AT[6]
TMEM71 transcript variant X2	XM_005250795.1:c.487+453=	XM_005250795.1:c.487+446AT[3]	XM_005250795.1:c.487+446AT[5]	XM_005250795.1:c.487+453_487+454insTATATATATATGTA	XM_005250795.1:c.487+453_487+454insTATATATATATGTATATATATATGTA	XM_005250795.1:c.487+453_487+454insTATATATATATGTATATATATATGTATATATATATGTA	XM_005250795.1:c.487+453_487+454insTATATATATATGTATATATATATACATATATATGTA	XM_005250795.1:c.487+446AT[6]
TMEM71 transcript variant X1	XM_047421363.1:c.430+453=	XM_047421363.1:c.430+446AT[3]	XM_047421363.1:c.430+446AT[5]	XM_047421363.1:c.430+453_430+454insTATATATATATGTA	XM_047421363.1:c.430+453_430+454insTATATATATATGTATATATATATGTA	XM_047421363.1:c.430+453_430+454insTATATATATATGTATATATATATGTATATATATATGTA	XM_047421363.1:c.430+453_430+454insTATATATATATGTATATATATATACATATATATGTA	XM_047421363.1:c.430+446AT[6]

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#.

39 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss83596231	Dec 15, 2007 (129)
2	BUSHMAN	ss194002450	Jul 04, 2010 (132)
3	1000GENOMES	ss498860559	May 04, 2012 (137)
4	LUNTER	ss552121820	Apr 25, 2013 (138)
5	LUNTER	ss553361486	Apr 25, 2013 (138)
6	SSMP	ss663831371	Apr 01, 2015 (144)
7	BILGI_BIOE	ss666454989	Apr 25, 2013 (138)
8	DDI	ss1536604802	Apr 01, 2015 (144)
9	MCHAISSO	ss3065209132	Nov 08, 2017 (151)
10	MCHAISSO	ss3066228730	Nov 08, 2017 (151)
11	EVA_DECODE	ss3723083506	Jul 13, 2019 (153)
12	EVA_DECODE	ss3723083507	Jul 13, 2019 (153)
13	EVA_DECODE	ss3723083508	Jul 13, 2019 (153)
14	ACPOP	ss3736135693	Jul 13, 2019 (153)
15	KHV_HUMAN_GENOMES	ss3811823352	Jul 13, 2019 (153)
16	EVA	ss3831434460	Apr 26, 2020 (154)
17	KOGIC	ss3964913049	Apr 26, 2020 (154)
18	KOGIC	ss3964913052	Apr 26, 2020 (154)
19	GNOMAD	ss4194122523	Apr 26, 2021 (155)
20	GNOMAD	ss4194122527	Apr 26, 2021 (155)
21	GNOMAD	ss4194122528	Apr 26, 2021 (155)
22	GNOMAD	ss4194122529	Apr 26, 2021 (155)
23	GNOMAD	ss4194122530	Apr 26, 2021 (155)
24	GNOMAD	ss4194122533	Apr 26, 2021 (155)
25	TOMMO_GENOMICS	ss5191173244	Apr 26, 2021 (155)
26	TOMMO_GENOMICS	ss5191173245	Apr 26, 2021 (155)
27	TOMMO_GENOMICS	ss5191173246	Apr 26, 2021 (155)
28	TOMMO_GENOMICS	ss5191173247	Apr 26, 2021 (155)
29	1000G_HIGH_COVERAGE	ss5279080355	Oct 16, 2022 (156)
30	1000G_HIGH_COVERAGE	ss5279080356	Oct 16, 2022 (156)
31	1000G_HIGH_COVERAGE	ss5279080358	Oct 16, 2022 (156)
32	HUGCELL_USP	ss5475447498	Oct 16, 2022 (156)
33	TOMMO_GENOMICS	ss5733946532	Oct 16, 2022 (156)
34	TOMMO_GENOMICS	ss5733946534	Oct 16, 2022 (156)
35	TOMMO_GENOMICS	ss5733946535	Oct 16, 2022 (156)
36	TOMMO_GENOMICS	ss5733946536	Oct 16, 2022 (156)
37	EVA	ss5831278017	Oct 16, 2022 (156)
38	EVA	ss5891190105	Oct 16, 2022 (156)
39	EVA	ss5975752553	Oct 16, 2022 (156)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 312291843 (NC_000008.11:132746488::ATAT 3/50376) Row 312291847 (NC_000008.11:132746488::ATATATATATACAT 14/50366) Row 312291848 (NC_000008.11:132746488::ATATATATATACATATATATATACAT 145/50312)...	-	Apr 26, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 312291843 (NC_000008.11:132746488::ATAT 3/50376) Row 312291847 (NC_000008.11:132746488::ATATATATATACAT 14/50366) Row 312291848 (NC_000008.11:132746488::ATATATATATACATATATATATACAT 145/50312)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 312291843 (NC_000008.11:132746488::ATAT 3/50376) Row 312291847 (NC_000008.11:132746488::ATATATATATACAT 14/50366) Row 312291848 (NC_000008.11:132746488::ATATATATATACATATATATATACAT 145/50312)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 312291843 (NC_000008.11:132746488::ATAT 3/50376) Row 312291847 (NC_000008.11:132746488::ATATATATATACAT 14/50366) Row 312291848 (NC_000008.11:132746488::ATATATATATACATATATATATACAT 145/50312)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 312291843 (NC_000008.11:132746488::ATAT 3/50376) Row 312291847 (NC_000008.11:132746488::ATATATATATACAT 14/50366) Row 312291848 (NC_000008.11:132746488::ATATATATATACATATATATATACAT 145/50312)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 312291843 (NC_000008.11:132746488::ATAT 3/50376) Row 312291847 (NC_000008.11:132746488::ATATATATATACAT 14/50366) Row 312291848 (NC_000008.11:132746488::ATATATATATACATATATATATACAT 145/50312)...	-	Apr 26, 2021 (155)
46	Korean Genome Project Submission ignored due to conflicting rows: Row 21291050 (NC_000008.11:132746488::AT 474/1740) Row 21291053 (NC_000008.11:132746488::ATATATATATACATATATATATACATATATATATACAT 1/1740)	-	Apr 26, 2020 (154)
47	Korean Genome Project Submission ignored due to conflicting rows: Row 21291050 (NC_000008.11:132746488::AT 474/1740) Row 21291053 (NC_000008.11:132746488::ATATATATATACATATATATATACATATATATATACAT 1/1740)	-	Apr 26, 2020 (154)
48	Northern Sweden	NC_000008.10 - 133758735	Jul 13, 2019 (153)
49	8.3KJPN Submission ignored due to conflicting rows: Row 49142551 (NC_000008.10:133758734::AT 5508/11380) Row 49142552 (NC_000008.10:133758734::ATATATATATACATATATATATACAT 5/11380) Row 49142553 (NC_000008.10:133758734::ATATATATATACATATATATATACATATATATATACAT 8/11380)...	-	Apr 26, 2021 (155)
50	8.3KJPN Submission ignored due to conflicting rows: Row 49142551 (NC_000008.10:133758734::AT 5508/11380) Row 49142552 (NC_000008.10:133758734::ATATATATATACATATATATATACAT 5/11380) Row 49142553 (NC_000008.10:133758734::ATATATATATACATATATATATACATATATATATACAT 8/11380)...	-	Apr 26, 2021 (155)
51	8.3KJPN Submission ignored due to conflicting rows: Row 49142551 (NC_000008.10:133758734::AT 5508/11380) Row 49142552 (NC_000008.10:133758734::ATATATATATACATATATATATACAT 5/11380) Row 49142553 (NC_000008.10:133758734::ATATATATATACATATATATATACATATATATATACAT 8/11380)...	-	Apr 26, 2021 (155)
52	8.3KJPN Submission ignored due to conflicting rows: Row 49142551 (NC_000008.10:133758734::AT 5508/11380) Row 49142552 (NC_000008.10:133758734::ATATATATATACATATATATATACAT 5/11380) Row 49142553 (NC_000008.10:133758734::ATATATATATACATATATATATACATATATATATACAT 8/11380)...	-	Apr 26, 2021 (155)
53	14KJPN Submission ignored due to conflicting rows: Row 67783636 (NC_000008.11:132746488::AT 8993/28200) Row 67783638 (NC_000008.11:132746488::ATATATATATACATATATATATACAT 6/28200) Row 67783639 (NC_000008.11:132746488::ATATATATATACATATATATATACATATATATATACAT 11/28200)...	-	Oct 16, 2022 (156)
54	14KJPN Submission ignored due to conflicting rows: Row 67783636 (NC_000008.11:132746488::AT 8993/28200) Row 67783638 (NC_000008.11:132746488::ATATATATATACATATATATATACAT 6/28200) Row 67783639 (NC_000008.11:132746488::ATATATATATACATATATATATACATATATATATACAT 11/28200)...	-	Oct 16, 2022 (156)
55	14KJPN Submission ignored due to conflicting rows: Row 67783636 (NC_000008.11:132746488::AT 8993/28200) Row 67783638 (NC_000008.11:132746488::ATATATATATACATATATATATACAT 6/28200) Row 67783639 (NC_000008.11:132746488::ATATATATATACATATATATATACATATATATATACAT 11/28200)...	-	Oct 16, 2022 (156)
56	14KJPN Submission ignored due to conflicting rows: Row 67783636 (NC_000008.11:132746488::AT 8993/28200) Row 67783638 (NC_000008.11:132746488::ATATATATATACATATATATATACAT 6/28200) Row 67783639 (NC_000008.11:132746488::ATATATATATACATATATATATACATATATATATACAT 11/28200)...	-	Oct 16, 2022 (156)
57	ALFA	NC_000008.11 - 132746489	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4194122533	NC_000008.11:132746488:AT:	NC_000008.11:132746488:ATATATATA:A… NC_000008.11:132746488:ATATATATA:ATATATA	(self)
14323994892	NC_000008.11:132746488:ATATATATA:A… NC_000008.11:132746488:ATATATATA:ATATATA	NC_000008.11:132746488:ATATATATA:A… NC_000008.11:132746488:ATATATATA:ATATATA	(self)
ss552121820, ss553361486	NC_000008.9:133827916::AT	NC_000008.11:132746488:ATATATATA:A… NC_000008.11:132746488:ATATATATA:ATATATATATA	(self)
9420558, ss498860559, ss663831371, ss666454989, ss1536604802, ss3736135693, ss3831434460, ss5191173244, ss5831278017, ss5975752553	NC_000008.10:133758734::AT	NC_000008.11:132746488:ATATATATA:A… NC_000008.11:132746488:ATATATATA:ATATATATATA	(self)
ss3065209132, ss3066228730, ss3723083508, ss3811823352, ss3964913049, ss5279080355, ss5475447498, ss5733946532, ss5891190105	NC_000008.11:132746488::AT	NC_000008.11:132746488:ATATATATA:A… NC_000008.11:132746488:ATATATATA:ATATATATATA	(self)
14323994892	NC_000008.11:132746488:ATATATATA:A… NC_000008.11:132746488:ATATATATA:ATATATATATA	NC_000008.11:132746488:ATATATATA:A… NC_000008.11:132746488:ATATATATA:ATATATATATA	(self)
ss83596231	NT_008046.16:47032292::TA	NC_000008.11:132746488:ATATATATA:A… NC_000008.11:132746488:ATATATATA:ATATATATATA	(self)
ss194002450	NT_008046.17:47032275::TA	NC_000008.11:132746488:ATATATATA:A… NC_000008.11:132746488:ATATATATA:ATATATATATA	(self)
ss5191173247	NC_000008.10:133758734::ATATATATAT… NC_000008.10:133758734::ATATATATATACAT	NC_000008.11:132746488:ATATATATA:A… NC_000008.11:132746488:ATATATATA:ATATATATATACATATATATATA	(self)
ss3723083507, ss4194122527, ss5279080356, ss5733946536	NC_000008.11:132746488::ATATATATAT… NC_000008.11:132746488::ATATATATATACAT	NC_000008.11:132746488:ATATATATA:A… NC_000008.11:132746488:ATATATATA:ATATATATATACATATATATATA	(self)
14323994892	NC_000008.11:132746488:ATATATATA:A… NC_000008.11:132746488:ATATATATA:ATATATATATACATATATATATA	NC_000008.11:132746488:ATATATATA:A… NC_000008.11:132746488:ATATATATA:ATATATATATACATATATATATA	(self)
ss5191173245	NC_000008.10:133758734::ATATATATAT… NC_000008.10:133758734::ATATATATATACATATATATATACAT	NC_000008.11:132746488:ATATATATA:A… NC_000008.11:132746488:ATATATATA:ATATATATATACATATATATATACATATATATATA	(self)
ss3723083506, ss4194122528, ss5279080358, ss5733946534	NC_000008.11:132746488::ATATATATAT… NC_000008.11:132746488::ATATATATATACATATATATATACAT	NC_000008.11:132746488:ATATATATA:A… NC_000008.11:132746488:ATATATATA:ATATATATATACATATATATATACATATATATATA	(self)
ss5191173246	NC_000008.10:133758734::ATATATATAT… NC_000008.10:133758734::ATATATATATACATATATATATACATATATATATACAT	NC_000008.11:132746488:ATATATATA:A… NC_000008.11:132746488:ATATATATA:ATATATATATACATATATATATACATATATATATACATATATATATA	(self)
ss3964913052, ss4194122529, ss5733946535	NC_000008.11:132746488::ATATATATAT… NC_000008.11:132746488::ATATATATATACATATATATATACATATATATATACAT	NC_000008.11:132746488:ATATATATA:A… NC_000008.11:132746488:ATATATATA:ATATATATATACATATATATATACATATATATATACATATATATATA	(self)
ss4194122530	NC_000008.11:132746488::ATATATATAT… NC_000008.11:132746488::ATATATATATACATATATATGTATATATATATACAT	NC_000008.11:132746488:ATATATATA:A… NC_000008.11:132746488:ATATATATA:ATATATATATACATATATATGTATATATATATACATATATATATA	(self)
ss4194122523	NC_000008.11:132746488::ATAT	NC_000008.11:132746488:ATATATATA:A… NC_000008.11:132746488:ATATATATA:ATATATATATATA	(self)
14323994892	NC_000008.11:132746488:ATATATATA:A… NC_000008.11:132746488:ATATATATA:ATATATATATATA	NC_000008.11:132746488:ATATATATA:A… NC_000008.11:132746488:ATATATATA:ATATATATATATA	(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 rs58252714

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
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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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs58252714