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dbSNP Short Genetic Variations

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.

rs34003473

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:87960877-87960891 (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)9 / del(T)8 / del(T)5 / del(…

del(T)9 / del(T)8 / del(T)5 / del(T)4 / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)4 / dup(T)8 / dup(T)11 / dup(T)12 / ins(T)16 / ins(T)17

Variation Type
Indel Insertion and Deletion
Frequency
del(T)5=0.000004 (1/264690, TOPMED)
del(T)5=0.00000 (0/10610, ALFA)
delTT=0.00000 (0/10610, ALFA) (+ 6 more)
delT=0.00000 (0/10610, ALFA)
dupT=0.00000 (0/10610, ALFA)
dupTT=0.00000 (0/10610, ALFA)
dupTTT=0.00000 (0/10610, ALFA)
dup(T)4=0.00000 (0/10610, ALFA)
dupT=0.28 (11/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
PTEN : Intron Variant
Publications
1 citation
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 10610 TTTTTTTTTTTTTTT=1.00000 TTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00000 1.0 0.0 0.0 N/A
European Sub 7706 TTTTTTTTTTTTTTT=1.0000 TTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000 1.0 0.0 0.0 N/A
African Sub 1982 TTTTTTTTTTTTTTT=1.0000 TTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000 1.0 0.0 0.0 N/A
African Others Sub 84 TTTTTTTTTTTTTTT=1.00 TTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
African American Sub 1898 TTTTTTTTTTTTTTT=1.0000 TTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000 1.0 0.0 0.0 N/A
Asian Sub 50 TTTTTTTTTTTTTTT=1.00 TTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
East Asian Sub 36 TTTTTTTTTTTTTTT=1.00 TTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 14 TTTTTTTTTTTTTTT=1.00 TTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 106 TTTTTTTTTTTTTTT=1.000 TTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 352 TTTTTTTTTTTTTTT=1.000 TTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
South Asian Sub 72 TTTTTTTTTTTTTTT=1.00 TTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Sub 342 TTTTTTTTTTTTTTT=1.000 TTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A


Help

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
TopMed Global Study-wide 264690 (T)15=0.999996 del(T)5=0.000004
Allele Frequency Aggregator Total Global 10610 (T)15=1.00000 del(T)5=0.00000, delTT=0.00000, delT=0.00000, dupT=0.00000, dupTT=0.00000, dupTTT=0.00000, dup(T)4=0.00000
Allele Frequency Aggregator European Sub 7706 (T)15=1.0000 del(T)5=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)4=0.0000
Allele Frequency Aggregator African Sub 1982 (T)15=1.0000 del(T)5=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)4=0.0000
Allele Frequency Aggregator Latin American 2 Sub 352 (T)15=1.000 del(T)5=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)4=0.000
Allele Frequency Aggregator Other Sub 342 (T)15=1.000 del(T)5=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)4=0.000
Allele Frequency Aggregator Latin American 1 Sub 106 (T)15=1.000 del(T)5=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)4=0.000
Allele Frequency Aggregator South Asian Sub 72 (T)15=1.00 del(T)5=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00
Allele Frequency Aggregator Asian Sub 50 (T)15=1.00 del(T)5=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00
The Danish reference pan genome Danish Study-wide 40 -

No frequency provided

dupT=0.28
Help

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 10 NC_000010.11:g.87960883_87960891del
GRCh38.p14 chr 10 NC_000010.11:g.87960884_87960891del
GRCh38.p14 chr 10 NC_000010.11:g.87960887_87960891del
GRCh38.p14 chr 10 NC_000010.11:g.87960888_87960891del
GRCh38.p14 chr 10 NC_000010.11:g.87960889_87960891del
GRCh38.p14 chr 10 NC_000010.11:g.87960890_87960891del
GRCh38.p14 chr 10 NC_000010.11:g.87960891del
GRCh38.p14 chr 10 NC_000010.11:g.87960891dup
GRCh38.p14 chr 10 NC_000010.11:g.87960890_87960891dup
GRCh38.p14 chr 10 NC_000010.11:g.87960889_87960891dup
GRCh38.p14 chr 10 NC_000010.11:g.87960888_87960891dup
GRCh38.p14 chr 10 NC_000010.11:g.87960884_87960891dup
GRCh38.p14 chr 10 NC_000010.11:g.87960881_87960891dup
GRCh38.p14 chr 10 NC_000010.11:g.87960880_87960891dup
GRCh38.p14 chr 10 NC_000010.11:g.87960891_87960892insTTTTTTTTTTTTTTTT
GRCh38.p14 chr 10 NC_000010.11:g.87960891_87960892insTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 10 NC_000010.10:g.89720640_89720648del
GRCh37.p13 chr 10 NC_000010.10:g.89720641_89720648del
GRCh37.p13 chr 10 NC_000010.10:g.89720644_89720648del
GRCh37.p13 chr 10 NC_000010.10:g.89720645_89720648del
GRCh37.p13 chr 10 NC_000010.10:g.89720646_89720648del
GRCh37.p13 chr 10 NC_000010.10:g.89720647_89720648del
GRCh37.p13 chr 10 NC_000010.10:g.89720648del
GRCh37.p13 chr 10 NC_000010.10:g.89720648dup
GRCh37.p13 chr 10 NC_000010.10:g.89720647_89720648dup
GRCh37.p13 chr 10 NC_000010.10:g.89720646_89720648dup
GRCh37.p13 chr 10 NC_000010.10:g.89720645_89720648dup
GRCh37.p13 chr 10 NC_000010.10:g.89720641_89720648dup
GRCh37.p13 chr 10 NC_000010.10:g.89720638_89720648dup
GRCh37.p13 chr 10 NC_000010.10:g.89720637_89720648dup
GRCh37.p13 chr 10 NC_000010.10:g.89720648_89720649insTTTTTTTTTTTTTTTT
GRCh37.p13 chr 10 NC_000010.10:g.89720648_89720649insTTTTTTTTTTTTTTTTT
PTEN RefSeqGene (LRG_311) NG_007466.2:g.102445_102453del
PTEN RefSeqGene (LRG_311) NG_007466.2:g.102446_102453del
PTEN RefSeqGene (LRG_311) NG_007466.2:g.102449_102453del
PTEN RefSeqGene (LRG_311) NG_007466.2:g.102450_102453del
PTEN RefSeqGene (LRG_311) NG_007466.2:g.102451_102453del
PTEN RefSeqGene (LRG_311) NG_007466.2:g.102452_102453del
PTEN RefSeqGene (LRG_311) NG_007466.2:g.102453del
PTEN RefSeqGene (LRG_311) NG_007466.2:g.102453dup
PTEN RefSeqGene (LRG_311) NG_007466.2:g.102452_102453dup
PTEN RefSeqGene (LRG_311) NG_007466.2:g.102451_102453dup
PTEN RefSeqGene (LRG_311) NG_007466.2:g.102450_102453dup
PTEN RefSeqGene (LRG_311) NG_007466.2:g.102446_102453dup
PTEN RefSeqGene (LRG_311) NG_007466.2:g.102443_102453dup
PTEN RefSeqGene (LRG_311) NG_007466.2:g.102442_102453dup
PTEN RefSeqGene (LRG_311) NG_007466.2:g.102453_102454insTTTTTTTTTTTTTTTT
PTEN RefSeqGene (LRG_311) NG_007466.2:g.102453_102454insTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 10 fix patch HG2334_PATCH NW_013171807.1:g.176672_176680del
GRCh38.p14 chr 10 fix patch HG2334_PATCH NW_013171807.1:g.176673_176680del
GRCh38.p14 chr 10 fix patch HG2334_PATCH NW_013171807.1:g.176676_176680del
GRCh38.p14 chr 10 fix patch HG2334_PATCH NW_013171807.1:g.176677_176680del
GRCh38.p14 chr 10 fix patch HG2334_PATCH NW_013171807.1:g.176678_176680del
GRCh38.p14 chr 10 fix patch HG2334_PATCH NW_013171807.1:g.176679_176680del
GRCh38.p14 chr 10 fix patch HG2334_PATCH NW_013171807.1:g.176680del
GRCh38.p14 chr 10 fix patch HG2334_PATCH NW_013171807.1:g.176680dup
GRCh38.p14 chr 10 fix patch HG2334_PATCH NW_013171807.1:g.176679_176680dup
GRCh38.p14 chr 10 fix patch HG2334_PATCH NW_013171807.1:g.176678_176680dup
GRCh38.p14 chr 10 fix patch HG2334_PATCH NW_013171807.1:g.176677_176680dup
GRCh38.p14 chr 10 fix patch HG2334_PATCH NW_013171807.1:g.176673_176680dup
GRCh38.p14 chr 10 fix patch HG2334_PATCH NW_013171807.1:g.176670_176680dup
GRCh38.p14 chr 10 fix patch HG2334_PATCH NW_013171807.1:g.176669_176680dup
GRCh38.p14 chr 10 fix patch HG2334_PATCH NW_013171807.1:g.176680_176681insTTTTTTTTTTTTTTTT
GRCh38.p14 chr 10 fix patch HG2334_PATCH NW_013171807.1:g.176680_176681insTTTTTTTTTTTTTTTTT
Gene: PTEN, phosphatase and tensin homolog (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PTEN transcript variant 1 NM_000314.8:c.802-11_802-…

NM_000314.8:c.802-11_802-3del

N/A Intron Variant
PTEN transcript variant 2 NM_001304717.5:c.1322-11_…

NM_001304717.5:c.1322-11_1322-3del

N/A Intron Variant
PTEN transcript variant 3 NM_001304718.2:c.211-11_2…

NM_001304718.2:c.211-11_211-3del

N/A Intron Variant
Help

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.

Allele: del(T)9 (allele ID: 1604198 )
ClinVar Accession Disease Names Clinical Significance
RCV002087146.3 PTEN hamartoma tumor syndrome Likely-Benign
Allele: delTTT (allele ID: 233862 )
ClinVar Accession Disease Names Clinical Significance
RCV000219547.1 Hereditary cancer-predisposing syndrome Likely-Benign
RCV000988423.1 PTEN hamartoma tumor syndrome Benign
Allele: delTT (allele ID: 98740 )
ClinVar Accession Disease Names Clinical Significance
RCV000131425.2 Hereditary cancer-predisposing syndrome Benign-Likely-Benign
RCV001579687.1 not provided Likely-Benign
RCV001699198.4 not specified Benign-Likely-Benign
Allele: delT (allele ID: 233863 )
ClinVar Accession Disease Names Clinical Significance
RCV000196322.4 PTEN hamartoma tumor syndrome Benign
RCV000214333.3 Hereditary cancer-predisposing syndrome Benign
RCV000507987.15 not specified Benign
RCV001530049.5 not provided Likely-Benign
RCV001798711.1 Breast and/or ovarian cancer Benign
Allele: dupT (allele ID: 98738 )
ClinVar Accession Disease Names Clinical Significance
RCV000180134.6 not specified Benign
RCV000198551.6 PTEN hamartoma tumor syndrome Benign
RCV001573417.4 not provided Benign
RCV002255280.1 Hereditary cancer-predisposing syndrome Benign
Allele: dupTT (allele ID: 98739 )
ClinVar Accession Disease Names Clinical Significance
RCV000180135.10 not specified Benign
RCV000221226.2 Hereditary cancer-predisposing syndrome Benign-Likely-Benign
Allele: dupTTT (allele ID: 791005 )
ClinVar Accession Disease Names Clinical Significance
RCV000988424.1 PTEN hamartoma tumor syndrome Likely-Benign
RCV001585897.3 not provided Likely-Benign
RCV002256641.1 Hereditary cancer-predisposing syndrome Benign
Help

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)15= del(T)9 del(T)8 del(T)5 del(T)4 delTTT delTT delT dupT dupTT dupTTT dup(T)4 dup(T)8 dup(T)11 dup(T)12 ins(T)16 ins(T)17
GRCh38.p14 chr 10 NC_000010.11:g.87960877_87960891= NC_000010.11:g.87960883_87960891del NC_000010.11:g.87960884_87960891del NC_000010.11:g.87960887_87960891del NC_000010.11:g.87960888_87960891del NC_000010.11:g.87960889_87960891del NC_000010.11:g.87960890_87960891del NC_000010.11:g.87960891del NC_000010.11:g.87960891dup NC_000010.11:g.87960890_87960891dup NC_000010.11:g.87960889_87960891dup NC_000010.11:g.87960888_87960891dup NC_000010.11:g.87960884_87960891dup NC_000010.11:g.87960881_87960891dup NC_000010.11:g.87960880_87960891dup NC_000010.11:g.87960891_87960892insTTTTTTTTTTTTTTTT NC_000010.11:g.87960891_87960892insTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 10 NC_000010.10:g.89720634_89720648= NC_000010.10:g.89720640_89720648del NC_000010.10:g.89720641_89720648del NC_000010.10:g.89720644_89720648del NC_000010.10:g.89720645_89720648del NC_000010.10:g.89720646_89720648del NC_000010.10:g.89720647_89720648del NC_000010.10:g.89720648del NC_000010.10:g.89720648dup NC_000010.10:g.89720647_89720648dup NC_000010.10:g.89720646_89720648dup NC_000010.10:g.89720645_89720648dup NC_000010.10:g.89720641_89720648dup NC_000010.10:g.89720638_89720648dup NC_000010.10:g.89720637_89720648dup NC_000010.10:g.89720648_89720649insTTTTTTTTTTTTTTTT NC_000010.10:g.89720648_89720649insTTTTTTTTTTTTTTTTT
PTEN RefSeqGene (LRG_311) NG_007466.2:g.102439_102453= NG_007466.2:g.102445_102453del NG_007466.2:g.102446_102453del NG_007466.2:g.102449_102453del NG_007466.2:g.102450_102453del NG_007466.2:g.102451_102453del NG_007466.2:g.102452_102453del NG_007466.2:g.102453del NG_007466.2:g.102453dup NG_007466.2:g.102452_102453dup NG_007466.2:g.102451_102453dup NG_007466.2:g.102450_102453dup NG_007466.2:g.102446_102453dup NG_007466.2:g.102443_102453dup NG_007466.2:g.102442_102453dup NG_007466.2:g.102453_102454insTTTTTTTTTTTTTTTT NG_007466.2:g.102453_102454insTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 10 fix patch HG2334_PATCH NW_013171807.1:g.176666_176680= NW_013171807.1:g.176672_176680del NW_013171807.1:g.176673_176680del NW_013171807.1:g.176676_176680del NW_013171807.1:g.176677_176680del NW_013171807.1:g.176678_176680del NW_013171807.1:g.176679_176680del NW_013171807.1:g.176680del NW_013171807.1:g.176680dup NW_013171807.1:g.176679_176680dup NW_013171807.1:g.176678_176680dup NW_013171807.1:g.176677_176680dup NW_013171807.1:g.176673_176680dup NW_013171807.1:g.176670_176680dup NW_013171807.1:g.176669_176680dup NW_013171807.1:g.176680_176681insTTTTTTTTTTTTTTTT NW_013171807.1:g.176680_176681insTTTTTTTTTTTTTTTTT
PTEN transcript NM_000314.4:c.802-17= NM_000314.4:c.802-11_802-3del NM_000314.4:c.802-10_802-3del NM_000314.4:c.802-7_802-3del NM_000314.4:c.802-6_802-3del NM_000314.4:c.802-5_802-3del NM_000314.4:c.802-4_802-3del NM_000314.4:c.802-3del NM_000314.4:c.802-3dup NM_000314.4:c.802-4_802-3dup NM_000314.4:c.802-5_802-3dup NM_000314.4:c.802-6_802-3dup NM_000314.4:c.802-10_802-3dup NM_000314.4:c.802-13_802-3dup NM_000314.4:c.802-14_802-3dup NM_000314.4:c.802-3_802-2insTTTTTTTTTTTTTTTT NM_000314.4:c.802-3_802-2insTTTTTTTTTTTTTTTTT
PTEN transcript variant 1 NM_000314.8:c.802-17= NM_000314.8:c.802-11_802-3del NM_000314.8:c.802-10_802-3del NM_000314.8:c.802-7_802-3del NM_000314.8:c.802-6_802-3del NM_000314.8:c.802-5_802-3del NM_000314.8:c.802-4_802-3del NM_000314.8:c.802-3del NM_000314.8:c.802-3dup NM_000314.8:c.802-4_802-3dup NM_000314.8:c.802-5_802-3dup NM_000314.8:c.802-6_802-3dup NM_000314.8:c.802-10_802-3dup NM_000314.8:c.802-13_802-3dup NM_000314.8:c.802-14_802-3dup NM_000314.8:c.802-3_802-2insTTTTTTTTTTTTTTTT NM_000314.8:c.802-3_802-2insTTTTTTTTTTTTTTTTT
PTEN transcript variant 2 NM_001304717.5:c.1322-17= NM_001304717.5:c.1322-11_1322-3del NM_001304717.5:c.1322-10_1322-3del NM_001304717.5:c.1322-7_1322-3del NM_001304717.5:c.1322-6_1322-3del NM_001304717.5:c.1322-5_1322-3del NM_001304717.5:c.1322-4_1322-3del NM_001304717.5:c.1322-3del NM_001304717.5:c.1322-3dup NM_001304717.5:c.1322-4_1322-3dup NM_001304717.5:c.1322-5_1322-3dup NM_001304717.5:c.1322-6_1322-3dup NM_001304717.5:c.1322-10_1322-3dup NM_001304717.5:c.1322-13_1322-3dup NM_001304717.5:c.1322-14_1322-3dup NM_001304717.5:c.1322-3_1322-2insTTTTTTTTTTTTTTTT NM_001304717.5:c.1322-3_1322-2insTTTTTTTTTTTTTTTTT
PTEN transcript variant 3 NM_001304718.2:c.211-17= NM_001304718.2:c.211-11_211-3del NM_001304718.2:c.211-10_211-3del NM_001304718.2:c.211-7_211-3del NM_001304718.2:c.211-6_211-3del NM_001304718.2:c.211-5_211-3del NM_001304718.2:c.211-4_211-3del NM_001304718.2:c.211-3del NM_001304718.2:c.211-3dup NM_001304718.2:c.211-4_211-3dup NM_001304718.2:c.211-5_211-3dup NM_001304718.2:c.211-6_211-3dup NM_001304718.2:c.211-10_211-3dup NM_001304718.2:c.211-13_211-3dup NM_001304718.2:c.211-14_211-3dup NM_001304718.2:c.211-3_211-2insTTTTTTTTTTTTTTTT NM_001304718.2:c.211-3_211-2insTTTTTTTTTTTTTTTTT
Help

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#.

62 SubSNP, 34 Frequency, 20 ClinVar submissions
No Submitter Submission ID Date (Build)
1 ABI ss39790336 Dec 03, 2013 (138)
2 GMI ss289028905 May 04, 2012 (137)
3 SSMP ss664010298 Apr 01, 2015 (144)
4 SSIP ss947263470 Aug 21, 2014 (142)
5 EGL ss947847014 Jan 23, 2014 (138)
6 EGL ss947847015 Jan 23, 2014 (138)
7 EGL ss947847016 Jan 23, 2014 (138)
8 EVA_GENOME_DK ss1574240800 Apr 01, 2015 (144)
9 EVA_EXAC ss1711943803 Sep 08, 2015 (136)
10 EVA_EXAC ss1711943804 Apr 01, 2015 (144)
11 EVA_EXAC ss1711943805 Apr 01, 2015 (144)
12 EVA_EXAC ss1711943806 Apr 01, 2015 (144)
13 EVA_EXAC ss1711943807 Apr 01, 2015 (136)
14 EVA_EXAC ss1711943808 Apr 01, 2015 (144)
15 TMC_SNPDB ss1997033837 Jul 19, 2016 (147)
16 CLINVAR ss1998445805 Jun 02, 2016 (136)
17 CLINVAR ss1998445806 Jun 02, 2016 (147)
18 MCHAISSO ss3065395826 Nov 08, 2017 (151)
19 EVA_DECODE ss3690369987 Jul 13, 2019 (153)
20 EVA_DECODE ss3690369988 Jul 13, 2019 (153)
21 EVA_DECODE ss3690369989 Jul 13, 2019 (153)
22 ACPOP ss3737543933 Jul 13, 2019 (153)
23 ACPOP ss3737543934 Jul 13, 2019 (153)
24 ACPOP ss3737543935 Jul 13, 2019 (153)
25 PACBIO ss3786744148 Jul 13, 2019 (153)
26 KOGIC ss3968370631 Apr 26, 2020 (154)
27 KOGIC ss3968370632 Apr 26, 2020 (154)
28 KOGIC ss3968370633 Apr 26, 2020 (154)
29 FSA-LAB ss3983982136 Apr 26, 2021 (155)
30 FSA-LAB ss3983982137 Apr 26, 2021 (155)
31 EVA ss3986491385 Apr 26, 2021 (155)
32 GNOMAD ss4222825988 Apr 26, 2021 (155)
33 GNOMAD ss4222825989 Apr 26, 2021 (155)
34 GNOMAD ss4222825990 Apr 26, 2021 (155)
35 GNOMAD ss4222825991 Apr 26, 2021 (155)
36 GNOMAD ss4222825992 Apr 26, 2021 (155)
37 GNOMAD ss4222825993 Apr 26, 2021 (155)
38 GNOMAD ss4222825994 Apr 26, 2021 (155)
39 GNOMAD ss4222825995 Apr 26, 2021 (155)
40 GNOMAD ss4222825996 Apr 26, 2021 (155)
41 GNOMAD ss4222825997 Apr 26, 2021 (155)
42 GNOMAD ss4222825998 Apr 26, 2021 (155)
43 GNOMAD ss4222825999 Apr 26, 2021 (155)
44 GNOMAD ss4222826000 Apr 26, 2021 (155)
45 TOPMED ss4861020986 Apr 26, 2021 (155)
46 EVA ss5141953875 Apr 26, 2021 (155)
47 TOMMO_GENOMICS ss5198762851 Apr 26, 2021 (155)
48 TOMMO_GENOMICS ss5198762852 Apr 26, 2021 (155)
49 TOMMO_GENOMICS ss5198762853 Apr 26, 2021 (155)
50 1000G_HIGH_COVERAGE ss5284928937 Oct 16, 2022 (156)
51 1000G_HIGH_COVERAGE ss5284928938 Oct 16, 2022 (156)
52 1000G_HIGH_COVERAGE ss5284928939 Oct 16, 2022 (156)
53 1000G_HIGH_COVERAGE ss5284928940 Oct 16, 2022 (156)
54 HUGCELL_USP ss5480404988 Oct 16, 2022 (156)
55 HUGCELL_USP ss5480404989 Oct 16, 2022 (156)
56 HUGCELL_USP ss5480404990 Oct 16, 2022 (156)
57 HUGCELL_USP ss5480404991 Oct 16, 2022 (156)
58 EVA ss5624010883 Oct 16, 2022 (156)
59 TOMMO_GENOMICS ss5744919197 Oct 16, 2022 (156)
60 TOMMO_GENOMICS ss5744919199 Oct 16, 2022 (156)
61 TOMMO_GENOMICS ss5744919200 Oct 16, 2022 (156)
62 EVA ss5800160751 Oct 16, 2022 (156)
63 ExAC

Submission ignored due to conflicting rows:
Row 214785 (NC_000010.10:89720633:TTT: 14/47182)
Row 214786 (NC_000010.10:89720633:TT: 420/47182)
Row 214787 (NC_000010.10:89720633:T: 13983/47182)
Row 214788 (NC_000010.10:89720633::T 8312/47182)
Row 214789 (NC_000010.10:89720633::TT 336/47182)
Row 214790 (NC_000010.10:89720633::TTT 54/47182)

- Oct 12, 2018 (152)
64 ExAC

Submission ignored due to conflicting rows:
Row 214785 (NC_000010.10:89720633:TTT: 14/47182)
Row 214786 (NC_000010.10:89720633:TT: 420/47182)
Row 214787 (NC_000010.10:89720633:T: 13983/47182)
Row 214788 (NC_000010.10:89720633::T 8312/47182)
Row 214789 (NC_000010.10:89720633::TT 336/47182)
Row 214790 (NC_000010.10:89720633::TTT 54/47182)

- Oct 12, 2018 (152)
65 ExAC

Submission ignored due to conflicting rows:
Row 214785 (NC_000010.10:89720633:TTT: 14/47182)
Row 214786 (NC_000010.10:89720633:TT: 420/47182)
Row 214787 (NC_000010.10:89720633:T: 13983/47182)
Row 214788 (NC_000010.10:89720633::T 8312/47182)
Row 214789 (NC_000010.10:89720633::TT 336/47182)
Row 214790 (NC_000010.10:89720633::TTT 54/47182)

- Oct 12, 2018 (152)
66 ExAC

Submission ignored due to conflicting rows:
Row 214785 (NC_000010.10:89720633:TTT: 14/47182)
Row 214786 (NC_000010.10:89720633:TT: 420/47182)
Row 214787 (NC_000010.10:89720633:T: 13983/47182)
Row 214788 (NC_000010.10:89720633::T 8312/47182)
Row 214789 (NC_000010.10:89720633::TT 336/47182)
Row 214790 (NC_000010.10:89720633::TTT 54/47182)

- Oct 12, 2018 (152)
67 ExAC

Submission ignored due to conflicting rows:
Row 214785 (NC_000010.10:89720633:TTT: 14/47182)
Row 214786 (NC_000010.10:89720633:TT: 420/47182)
Row 214787 (NC_000010.10:89720633:T: 13983/47182)
Row 214788 (NC_000010.10:89720633::T 8312/47182)
Row 214789 (NC_000010.10:89720633::TT 336/47182)
Row 214790 (NC_000010.10:89720633::TTT 54/47182)

- Oct 12, 2018 (152)
68 ExAC

Submission ignored due to conflicting rows:
Row 214785 (NC_000010.10:89720633:TTT: 14/47182)
Row 214786 (NC_000010.10:89720633:TT: 420/47182)
Row 214787 (NC_000010.10:89720633:T: 13983/47182)
Row 214788 (NC_000010.10:89720633::T 8312/47182)
Row 214789 (NC_000010.10:89720633::TT 336/47182)
Row 214790 (NC_000010.10:89720633::TTT 54/47182)

- Oct 12, 2018 (152)
69 The Danish reference pan genome NC_000010.10 - 89720634 Apr 26, 2020 (154)
70 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 359401212 (NC_000010.11:87960876::T 18023/114354)
Row 359401213 (NC_000010.11:87960876::TT 305/114444)
Row 359401214 (NC_000010.11:87960876::TTT 937/114436)...

- Apr 26, 2021 (155)
71 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 359401212 (NC_000010.11:87960876::T 18023/114354)
Row 359401213 (NC_000010.11:87960876::TT 305/114444)
Row 359401214 (NC_000010.11:87960876::TTT 937/114436)...

- Apr 26, 2021 (155)
72 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 359401212 (NC_000010.11:87960876::T 18023/114354)
Row 359401213 (NC_000010.11:87960876::TT 305/114444)
Row 359401214 (NC_000010.11:87960876::TTT 937/114436)...

- Apr 26, 2021 (155)
73 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 359401212 (NC_000010.11:87960876::T 18023/114354)
Row 359401213 (NC_000010.11:87960876::TT 305/114444)
Row 359401214 (NC_000010.11:87960876::TTT 937/114436)...

- Apr 26, 2021 (155)
74 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 359401212 (NC_000010.11:87960876::T 18023/114354)
Row 359401213 (NC_000010.11:87960876::TT 305/114444)
Row 359401214 (NC_000010.11:87960876::TTT 937/114436)...

- Apr 26, 2021 (155)
75 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 359401212 (NC_000010.11:87960876::T 18023/114354)
Row 359401213 (NC_000010.11:87960876::TT 305/114444)
Row 359401214 (NC_000010.11:87960876::TTT 937/114436)...

- Apr 26, 2021 (155)
76 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 359401212 (NC_000010.11:87960876::T 18023/114354)
Row 359401213 (NC_000010.11:87960876::TT 305/114444)
Row 359401214 (NC_000010.11:87960876::TTT 937/114436)...

- Apr 26, 2021 (155)
77 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 359401212 (NC_000010.11:87960876::T 18023/114354)
Row 359401213 (NC_000010.11:87960876::TT 305/114444)
Row 359401214 (NC_000010.11:87960876::TTT 937/114436)...

- Apr 26, 2021 (155)
78 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 359401212 (NC_000010.11:87960876::T 18023/114354)
Row 359401213 (NC_000010.11:87960876::TT 305/114444)
Row 359401214 (NC_000010.11:87960876::TTT 937/114436)...

- Apr 26, 2021 (155)
79 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 359401212 (NC_000010.11:87960876::T 18023/114354)
Row 359401213 (NC_000010.11:87960876::TT 305/114444)
Row 359401214 (NC_000010.11:87960876::TTT 937/114436)...

- Apr 26, 2021 (155)
80 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 359401212 (NC_000010.11:87960876::T 18023/114354)
Row 359401213 (NC_000010.11:87960876::TT 305/114444)
Row 359401214 (NC_000010.11:87960876::TTT 937/114436)...

- Apr 26, 2021 (155)
81 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 359401212 (NC_000010.11:87960876::T 18023/114354)
Row 359401213 (NC_000010.11:87960876::TT 305/114444)
Row 359401214 (NC_000010.11:87960876::TTT 937/114436)...

- Apr 26, 2021 (155)
82 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 359401212 (NC_000010.11:87960876::T 18023/114354)
Row 359401213 (NC_000010.11:87960876::TT 305/114444)
Row 359401214 (NC_000010.11:87960876::TTT 937/114436)...

- Apr 26, 2021 (155)
83 Korean Genome Project

Submission ignored due to conflicting rows:
Row 24748632 (NC_000010.11:87960877::T 607/1830)
Row 24748633 (NC_000010.11:87960877::TT 24/1830)
Row 24748634 (NC_000010.11:87960876:T: 48/1830)

- Apr 26, 2020 (154)
84 Korean Genome Project

Submission ignored due to conflicting rows:
Row 24748632 (NC_000010.11:87960877::T 607/1830)
Row 24748633 (NC_000010.11:87960877::TT 24/1830)
Row 24748634 (NC_000010.11:87960876:T: 48/1830)

- Apr 26, 2020 (154)
85 Korean Genome Project

Submission ignored due to conflicting rows:
Row 24748632 (NC_000010.11:87960877::T 607/1830)
Row 24748633 (NC_000010.11:87960877::TT 24/1830)
Row 24748634 (NC_000010.11:87960876:T: 48/1830)

- Apr 26, 2020 (154)
86 Northern Sweden

Submission ignored due to conflicting rows:
Row 10828798 (NC_000010.10:89720633::T 19/588)
Row 10828799 (NC_000010.10:89720633::TTTTTTTTTTT 5/588)
Row 10828800 (NC_000010.10:89720633::TTTTTTTTTTTT 4/588)

- Jul 13, 2019 (153)
87 Northern Sweden

Submission ignored due to conflicting rows:
Row 10828798 (NC_000010.10:89720633::T 19/588)
Row 10828799 (NC_000010.10:89720633::TTTTTTTTTTT 5/588)
Row 10828800 (NC_000010.10:89720633::TTTTTTTTTTTT 4/588)

- Jul 13, 2019 (153)
88 Northern Sweden

Submission ignored due to conflicting rows:
Row 10828798 (NC_000010.10:89720633::T 19/588)
Row 10828799 (NC_000010.10:89720633::TTTTTTTTTTT 5/588)
Row 10828800 (NC_000010.10:89720633::TTTTTTTTTTTT 4/588)

- Jul 13, 2019 (153)
89 8.3KJPN

Submission ignored due to conflicting rows:
Row 56732158 (NC_000010.10:89720633::T 5667/16666)
Row 56732159 (NC_000010.10:89720633:T: 51/16666)
Row 56732160 (NC_000010.10:89720633::TT 45/16666)

- Apr 26, 2021 (155)
90 8.3KJPN

Submission ignored due to conflicting rows:
Row 56732158 (NC_000010.10:89720633::T 5667/16666)
Row 56732159 (NC_000010.10:89720633:T: 51/16666)
Row 56732160 (NC_000010.10:89720633::TT 45/16666)

- Apr 26, 2021 (155)
91 8.3KJPN

Submission ignored due to conflicting rows:
Row 56732158 (NC_000010.10:89720633::T 5667/16666)
Row 56732159 (NC_000010.10:89720633:T: 51/16666)
Row 56732160 (NC_000010.10:89720633::TT 45/16666)

- Apr 26, 2021 (155)
92 14KJPN

Submission ignored due to conflicting rows:
Row 78756301 (NC_000010.11:87960876::T 9657/28248)
Row 78756303 (NC_000010.11:87960876::TT 80/28248)
Row 78756304 (NC_000010.11:87960876:T: 75/28248)

- Oct 16, 2022 (156)
93 14KJPN

Submission ignored due to conflicting rows:
Row 78756301 (NC_000010.11:87960876::T 9657/28248)
Row 78756303 (NC_000010.11:87960876::TT 80/28248)
Row 78756304 (NC_000010.11:87960876:T: 75/28248)

- Oct 16, 2022 (156)
94 14KJPN

Submission ignored due to conflicting rows:
Row 78756301 (NC_000010.11:87960876::T 9657/28248)
Row 78756303 (NC_000010.11:87960876::TT 80/28248)
Row 78756304 (NC_000010.11:87960876:T: 75/28248)

- Oct 16, 2022 (156)
95 TopMed NC_000010.11 - 87960877 Apr 26, 2021 (155)
96 ALFA NC_000010.11 - 87960877 Apr 26, 2021 (155)
97 ClinVar RCV000131425.2 Oct 16, 2022 (156)
98 ClinVar RCV000180134.6 Oct 16, 2022 (156)
99 ClinVar RCV000180135.10 Oct 16, 2022 (156)
100 ClinVar RCV000196322.4 Oct 16, 2022 (156)
101 ClinVar RCV000198551.6 Oct 16, 2022 (156)
102 ClinVar RCV000214333.3 Oct 16, 2022 (156)
103 ClinVar RCV000219547.1 Oct 12, 2018 (152)
104 ClinVar RCV000221226.2 Oct 16, 2022 (156)
105 ClinVar RCV000507987.15 Oct 16, 2022 (156)
106 ClinVar RCV000988423.1 Apr 26, 2020 (154)
107 ClinVar RCV000988424.1 Apr 26, 2020 (154)
108 ClinVar RCV001530049.5 Oct 16, 2022 (156)
109 ClinVar RCV001573417.4 Oct 16, 2022 (156)
110 ClinVar RCV001579687.1 Oct 16, 2022 (156)
111 ClinVar RCV001585897.3 Oct 16, 2022 (156)
112 ClinVar RCV001699198.4 Oct 16, 2022 (156)
113 ClinVar RCV001798711.1 Oct 16, 2022 (156)
114 ClinVar RCV002087146.3 Oct 16, 2022 (156)
115 ClinVar RCV002255280.1 Oct 16, 2022 (156)
116 ClinVar RCV002256641.1 Oct 16, 2022 (156)
Help

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)
rs876658121 May 11, 2017 (136)
rs770923842 Feb 27, 2017 (136)
rs796100446 Feb 27, 2017 (136)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
RCV002087146.3 NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTT

NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTT

ss4222826000 NC_000010.11:87960876:TTTTTTTT: NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTT

(self)
76566641, ss4861020986 NC_000010.11:87960876:TTTTT: NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTT

(self)
13341372411 NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTT

NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTT

(self)
ss4222825999 NC_000010.11:87960876:TTTT: NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTT

(self)
ss1711943807 NC_000010.10:89720633:TTT: NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTT

(self)
ss4222825998 NC_000010.11:87960876:TTT: NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTT

(self)
RCV000219547.1, RCV000988423.1 NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTT

NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTT

(self)
ss1998445806 NC_000010.11:87960888:TTT: NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTT

(self)
ss1711943803, ss3983982137 NC_000010.10:89720633:TT: NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
ss4222825997 NC_000010.11:87960876:TT: NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
RCV000131425.2, RCV001579687.1, RCV001699198.4, 13341372411 NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT

NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
ss947847016 NC_000010.11:87960889:TT: NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
ss1711943804, ss1997033837, ss3786744148, ss3986491385, ss5198762852, ss5624010883 NC_000010.10:89720633:T: NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss3690369987, ss3968370633, ss4222825996, ss5141953875, ss5284928939, ss5480404990, ss5744919200 NC_000010.11:87960876:T: NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
RCV000196322.4, RCV000214333.3, RCV000507987.15, RCV001530049.5, RCV001798711.1, 13341372411 NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss1998445805 NC_000010.11:87960890:T: NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss289028905 NC_000010.9:89710628::T NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
255033, ss664010298, ss1574240800, ss1711943805, ss3737543933, ss3983982136, ss5198762851, ss5800160751 NC_000010.10:89720633::T NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss947263470 NC_000010.10:89720634::T NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss3065395826, ss4222825988, ss5284928937, ss5480404988, ss5744919197 NC_000010.11:87960876::T NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
RCV000180134.6, RCV000198551.6, RCV001573417.4, RCV002255280.1, 13341372411 NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss3690369988, ss3968370631 NC_000010.11:87960877::T NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss947847014 NC_000010.11:87960891::T NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss39790336 NT_030059.13:40525112::T NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss1711943806, ss5198762853 NC_000010.10:89720633::TT NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss4222825989, ss5284928940, ss5480404989, ss5744919199 NC_000010.11:87960876::TT NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
RCV000180135.10, RCV000221226.2, 13341372411 NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss3690369989, ss3968370632 NC_000010.11:87960877::TT NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss947847015 NC_000010.11:87960891::TT NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss1711943808 NC_000010.10:89720633::TTT NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss4222825990, ss5284928938, ss5480404991 NC_000010.11:87960876::TTT NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
RCV000988424.1, RCV001585897.3, RCV002256641.1, 13341372411 NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss4222825991 NC_000010.11:87960876::TTTT NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
13341372411 NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss4222825992 NC_000010.11:87960876::TTTTTTTT NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss3737543934 NC_000010.10:89720633::TTTTTTTTTTT NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4222825993 NC_000010.11:87960876::TTTTTTTTTTT NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss3737543935 NC_000010.10:89720633::TTTTTTTTTTTT NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4222825994 NC_000010.11:87960876::TTTTTTTTTTT…

NC_000010.11:87960876::TTTTTTTTTTTTTTTT

NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4222825995 NC_000010.11:87960876::TTTTTTTTTTT…

NC_000010.11:87960876::TTTTTTTTTTTTTTTTT

NC_000010.11:87960876:TTTTTTTTTTTT…

NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs34003473
PMID Title Author Year Journal
23757202 Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data. Bean LJ et al. 2013 Human mutation
Help

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.

Software version is: 2.0.1.post825+45319f0