PTEN[Gene Name] - SNP

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Select item 5558951.

rs555895 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:87961150 (GRCh38)
10:89720907 (GRCh37)
Canonical SPDI:: NC_000010.11:87961149:T:G
Gene:: PTEN (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.364472/10187 (ALFA)
G=0.086142/46 (MGP)
T=0.284264/112 (SGDP_PRJ)
G=0.300893/1348 (Estonian)
G=0.340681/340 (GoNL)
G=0.369914/43897 (ExAC)
G=0.373306/92706 (GnomAD_exomes)
G=0.378643/4911 (GoESP)
G=0.402324/56294 (GnomAD)
G=0.403333/242 (NorthernSweden)
G=0.413397/109422 (TOPMED)
T=0.416667/10 (Siberian)
G=0.432074/2164 (1000Genomes)
G=0.44869/822 (Korea1K)
G=0.456655/1338 (KOREAN)
G=0.481481/104 (Qatari)
T=0.484642/8123 (TOMMO)
HGVS:: NC_000010.11:g.87961150T>G, NC_000010.10:g.89720907T>G, NG_007466.2:g.102712T>G, NW_013171807.1:g.176939T>G

PubMed

Select item 7018482.

rs701848 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 10:87966988 (GRCh38)
10:89726745 (GRCh37)
Canonical SPDI:: NC_000010.11:87966987:T:A,NC_000010.11:87966987:T:C,NC_000010.11:87966987:T:G
Gene:: PTEN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.267227/5631 (ALFA)
C=0.25/54 (Qatari)
C=0.284831/507 (HapMap)
T=0.309524/13 (Siberian)
C=0.320057/84716 (TOPMED)
C=0.320225/171 (MGP)
C=0.326189/43725 (GnomAD)
T=0.342657/98 (SGDP_PRJ)
C=0.35/14 (GENOME_DK)
C=0.368364/1845 (1000Genomes)
C=0.368421/14 (PRJEB36033)
C=0.391855/1453 (TWINSUK)
C=0.40685/1568 (ALSPAC)
C=0.416667/250 (NorthernSweden)
C=0.422846/422 (GoNL)
C=0.426159/7140 (TOMMO)
C=0.454315/358 (PRJEB37584)
C=0.456638/2043 (Estonian)
C=0.468579/1372 (KOREAN)
C=0.474345/869 (Korea1K)
C=0.492013/308 (Chileans)
HGVS:: NC_000010.11:g.87966988T>A, NC_000010.11:g.87966988T>C, NC_000010.11:g.87966988T>G, NC_000010.10:g.89726745T>A, NC_000010.10:g.89726745T>C, NC_000010.10:g.89726745T>G, NG_007466.2:g.108550T>A, NG_007466.2:g.108550T>C, NG_007466.2:g.108550T>G, NM_000314.8:c.*1516T>A, NM_000314.8:c.*1516T>C, NM_000314.8:c.*1516T>G, NM_000314.7:c.*1516T>A, NM_000314.7:c.*1516T>C, NM_000314.7:c.*1516T>G, NM_000314.6:c.*1516T>A, NM_000314.6:c.*1516T>C, NM_000314.6:c.*1516T>G, NM_000314.5:c.*1516T>A, NM_000314.5:c.*1516T>C, NM_000314.5:c.*1516T>G, NM_000314.4:c.*1516T>A, NM_000314.4:c.*1516T>C, NM_000314.4:c.*1516T>G, NM_001304717.5:c.*1516T>A, NM_001304717.5:c.*1516T>C, NM_001304717.5:c.*1516T>G, NM_001304717.4:c.*1516T>A, NM_001304717.4:c.*1516T>C, NM_001304717.4:c.*1516T>G, NM_001304717.3:c.*1516T>A, NM_001304717.3:c.*1516T>C, NM_001304717.3:c.*1516T>G, NM_001304717.2:c.*1516T>A, NM_001304717.2:c.*1516T>C, NM_001304717.2:c.*1516T>G, NM_001304717.1:c.*1516T>A, NM_001304717.1:c.*1516T>C, NM_001304717.1:c.*1516T>G, NM_001304718.2:c.*1516T>A, NM_001304718.2:c.*1516T>C, NM_001304718.2:c.*1516T>G, NM_001304718.1:c.*1516T>A, NM_001304718.1:c.*1516T>C, NM_001304718.1:c.*1516T>G, NW_013171807.1:g.182777T>A, NW_013171807.1:g.182777T>C, NW_013171807.1:g.182777T>G

PubMed

Select item 10443223.

rs1044322 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 10:87863566 (GRCh38)
10:89623323 (GRCh37)
Canonical SPDI:: NC_000010.11:87863565:G:A,NC_000010.11:87863565:G:C,NC_000010.11:87863565:G:T
Gene:: PTEN (Varview), KLLN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Clinical significance:: uncertain-significance,benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00105/3 (KOREAN)
A=0.00142/24 (TOMMO)
A=0.00169/3 (Korea1K)
A=0.00463/1 (Vietnamese)
A=0.01098/55 (1000Genomes)
A=0.01674/75 (Estonian)
A=0.01957/22 (Daghestan)
A=0.02/12 (NorthernSweden)
A=0.025/1 (GENOME_DK)
A=0.03704/8 (Qatari)
G=0.5/1 (Siberian)
G=0.5/7 (SGDP_PRJ)
HGVS:: NC_000010.11:g.87863566G>A, NC_000010.11:g.87863566G>C, NC_000010.11:g.87863566G>T, NC_000010.10:g.89623323G>A, NC_000010.10:g.89623323G>C, NC_000010.10:g.89623323G>T, NG_007466.2:g.5129G>A, NG_007466.2:g.5129G>C, NG_007466.2:g.5129G>T, NM_000314.4:c.-903G>A, NM_000314.4:c.-903G>C, NM_000314.4:c.-903G>T, NW_013171807.1:g.79390G>A, NW_013171807.1:g.79390G>C, NW_013171807.1:g.79390G>T, NG_033079.1:g.4872C>T, NG_033079.1:g.4872C>G, NG_033079.1:g.4872C>A, NM_000314.6:c.-903G>A, NM_000314.6:c.-903G>C, NM_000314.6:c.-903G>T, NM_000314.5:c.-903G>A, NM_000314.5:c.-903G>C, NM_000314.5:c.-903G>T, NM_001304717.4:c.-384G>A, NM_001304717.4:c.-384G>C, NM_001304717.4:c.-384G>T, NM_001304717.2:c.-384G>A, NM_001304717.2:c.-384G>C, NM_001304717.2:c.-384G>T, NM_001304718.1:c.-1608G>A, NM_001304718.1:c.-1608G>C, NM_001304718.1:c.-1608G>T, NM_001304717.1:c.-384G>A, NM_001304717.1:c.-384G>C, NM_001304717.1:c.-384G>T

PubMed

Select item 17997344.

rs1799734 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATTA,TCTTA [Show Flanks]
Chromosome:: 10:87931195 (GRCh38)
10:89690953 (GRCh37)
Canonical SPDI:: NC_000010.11:87931195:TTA:TTATATTA,NC_000010.11:87931195:TTA:TTATCTTA
Gene:: PTEN (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTATCTTA=0.188482/1872 (ALFA)
TTATC=0.299107/1340 (Estonian)
TTATC=0.339388/1308 (ALSPAC)
TTATC=0.340681/340 (GoNL)
TTATC=0.346548/1285 (TWINSUK)
TTATC=0.39515/55016 (GnomAD)
TTATC=0.401667/241 (NorthernSweden)
TTATC=0.407416/107839 (TOPMED)
TTATC=0.427077/2139 (1000Genomes)
TTATC=0.447598/820 (Korea1K)
-=0.482197/8082 (TOMMO)
-=0.5/20 (GENOME_DK)
HGVS:: NC_000010.11:g.87931198_87931199insTATTA, NC_000010.11:g.87931198_87931199insTCTTA, NC_000010.10:g.89690955_89690956insTATTA, NC_000010.10:g.89690955_89690956insTCTTA, NG_007466.2:g.72760_72761insTATTA, NG_007466.2:g.72760_72761insTCTTA, NW_013171807.1:g.146990_146991insTATTA, NW_013171807.1:g.146990_146991insTCTTA

Select item 19038585.

rs1903858 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 10:87893929 (GRCh38)
10:89653686 (GRCh37)
Canonical SPDI:: NC_000010.11:87893928:A:C,NC_000010.11:87893928:A:G,NC_000010.11:87893928:A:T
Gene:: PTEN (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.33297/47700 (ALFA)
T=0./0 (KOREAN)
G=0.037453/20 (MGP)
G=0.284949/1276 (Estonian)
A=0.286458/110 (SGDP_PRJ)
G=0.318889/1229 (ALSPAC)
G=0.326653/326 (GoNL)
G=0.326861/1212 (TWINSUK)
A=0.333333/10 (Siberian)
G=0.385/231 (NorthernSweden)
G=0.389601/53218 (GnomAD)
G=0.393177/104070 (TOPMED)
G=0.417083/2089 (1000Genomes)
G=0.44869/822 (Korea1K)
G=0.462712/819 (HapMap)
A=0.484252/8116 (TOMMO)
G=0.486111/105 (Qatari)
A=0.490476/103 (Vietnamese)
A=0.5/20 (GENOME_DK)
HGVS:: NC_000010.11:g.87893929A>C, NC_000010.11:g.87893929A>G, NC_000010.11:g.87893929A>T, NC_000010.10:g.89653686A>C, NC_000010.10:g.89653686A>G, NC_000010.10:g.89653686A>T, NG_007466.2:g.35491A>C, NG_007466.2:g.35491A>G, NG_007466.2:g.35491A>T, NW_013171807.1:g.109752A>C, NW_013171807.1:g.109752A>G, NW_013171807.1:g.109752A>T

PubMed

Select item 27366276.

rs2736627 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:87961337 (GRCh38)
10:89721094 (GRCh37)
Canonical SPDI:: NC_000010.11:87961336:C:T
Gene:: PTEN (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.098941/1869 (ALFA)
C=0./0 (KOREAN)
C=0./0 (Korea1K)
C=0./0 (TOMMO)
C=0./0 (Vietnamese)
C=0.02454/8 (HapMap)
C=0.039568/22 (SGDP_PRJ)
C=0.045128/226 (1000Genomes)
C=0.053571/3 (Siberian)
C=0.075/3 (GENOME_DK)
C=0.077672/20559 (TOPMED)
C=0.079917/11202 (GnomAD)
C=0.086667/52 (NorthernSweden)
C=0.106481/23 (Qatari)
C=0.109756/423 (ALSPAC)
C=0.119238/119 (GoNL)
C=0.122977/456 (TWINSUK)
C=0.126116/565 (Estonian)
HGVS:: NC_000010.11:g.87961337C>T, NC_000010.10:g.89721094C>T, NG_007466.2:g.102899C>T, NW_013171807.1:g.177126C>T

PubMed

Select item 29437727.

rs2943772 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 10:87864144 (GRCh38)
10:89623901 (GRCh37)
Canonical SPDI:: NC_000010.11:87864143:G:A,NC_000010.11:87864143:G:C,NC_000010.11:87864143:G:T
Gene:: PTEN (Varview), KLLN (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,5_prime_UTR_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000061/1 (ALFA)
G=0./0 (1000Genomes)
G=0./0 (GENOME_DK)
A=0./0 (KOREAN)
G=0./0 (NorthernSweden)
G=0./0 (SGDP_PRJ)
G=0./0 (Siberian)
G=0.000008/2 (TOPMED)
G=0.000164/23 (GnomAD)
G=0.000852/14 (TOMMO)
HGVS:: NC_000010.11:g.87864144G>A, NC_000010.11:g.87864144G>C, NC_000010.11:g.87864144G>T, NC_000010.10:g.89623901G>A, NC_000010.10:g.89623901G>C, NC_000010.10:g.89623901G>T, NG_007466.2:g.5706C>G, NG_007466.2:g.5706C>A, NG_007466.2:g.5706C>T, NM_000314.8:c.-326G>A, NM_000314.8:c.-326G>C, NM_000314.8:c.-326G>T, NM_000314.7:c.-326C>G, NM_000314.7:c.-326C>A, NM_000314.7:c.-326C>T, NM_000314.6:c.-326C>G, NM_000314.6:c.-326C>A, NM_000314.6:c.-326C>T, NM_000314.5:c.-326C>G, NM_000314.5:c.-326C>A, NM_000314.5:c.-326C>T, NM_000314.4:c.-326C>G, NM_000314.4:c.-326C>A, NM_000314.4:c.-326C>T, NM_001304717.5:c.194C>G, NM_001304717.5:c.194C>A, NM_001304717.5:c.194C>T, NM_001304717.4:c.194C>G, NM_001304717.4:c.194C>A, NM_001304717.4:c.194C>T, NM_001304717.3:c.194C>G, NM_001304717.3:c.194C>A, NM_001304717.3:c.194C>T, NM_001304717.2:c.194C>G, NM_001304717.2:c.194C>A, NM_001304717.2:c.194C>T, NM_001304717.1:c.194C>G, NM_001304717.1:c.194C>A, NM_001304717.1:c.194C>T, NM_001304718.2:c.-1031C>G, NM_001304718.2:c.-1031C>A, NM_001304718.2:c.-1031C>T, NM_001304718.1:c.-1031C>G, NM_001304718.1:c.-1031C>A, NM_001304718.1:c.-1031C>T, NW_013171807.1:g.79967C>G, NW_013171807.1:g.79967C>A, NW_013171807.1:g.79967C>T, NG_033079.1:g.4294C>T, NG_033079.1:g.4294C>G, NG_033079.1:g.4294C>A, NP_001291646.4:p.Ser65Cys, NP_001291646.4:p.Ser65Tyr, NP_001291646.4:p.Ser65Phe

Select item 57867978.

rs5786797 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:87966916 (GRCh38)
10:89726673 (GRCh37)
Canonical SPDI:: NC_000010.11:87966902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:87966902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:87966902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:87966902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:87966902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:87966902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:87966902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:87966902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:87966902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:87966902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:87966902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:87966902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:87966902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:87966902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:87966902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:87966902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:87966902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:87966902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:87966902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:87966902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:87966902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:87966902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:87966902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:87966902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:87966902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:87966902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:87966902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PTEN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000010.11:g.87966916_87966931del, NC_000010.11:g.87966917_87966931del, NC_000010.11:g.87966918_87966931del, NC_000010.11:g.87966919_87966931del, NC_000010.11:g.87966920_87966931del, NC_000010.11:g.87966921_87966931del, NC_000010.11:g.87966922_87966931del, NC_000010.11:g.87966923_87966931del, NC_000010.11:g.87966924_87966931del, NC_000010.11:g.87966925_87966931del, NC_000010.11:g.87966926_87966931del, NC_000010.11:g.87966927_87966931del, NC_000010.11:g.87966928_87966931del, NC_000010.11:g.87966929_87966931del, NC_000010.11:g.87966930_87966931del, NC_000010.11:g.87966931del, NC_000010.11:g.87966931dup, NC_000010.11:g.87966930_87966931dup, NC_000010.11:g.87966929_87966931dup, NC_000010.11:g.87966928_87966931dup, NC_000010.11:g.87966927_87966931dup, NC_000010.11:g.87966926_87966931dup, NC_000010.11:g.87966925_87966931dup, NC_000010.11:g.87966924_87966931dup, NC_000010.11:g.87966921_87966931dup, NC_000010.11:g.87966917_87966931dup, NC_000010.11:g.87966915_87966931dup, NC_000010.10:g.89726673_89726688del, NC_000010.10:g.89726674_89726688del, NC_000010.10:g.89726675_89726688del, NC_000010.10:g.89726676_89726688del, NC_000010.10:g.89726677_89726688del, NC_000010.10:g.89726678_89726688del, NC_000010.10:g.89726679_89726688del, NC_000010.10:g.89726680_89726688del, NC_000010.10:g.89726681_89726688del, NC_000010.10:g.89726682_89726688del, NC_000010.10:g.89726683_89726688del, NC_000010.10:g.89726684_89726688del, NC_000010.10:g.89726685_89726688del, NC_000010.10:g.89726686_89726688del, NC_000010.10:g.89726687_89726688del, NC_000010.10:g.89726688del, NC_000010.10:g.89726688dup, NC_000010.10:g.89726687_89726688dup, NC_000010.10:g.89726686_89726688dup, NC_000010.10:g.89726685_89726688dup, NC_000010.10:g.89726684_89726688dup, NC_000010.10:g.89726683_89726688dup, NC_000010.10:g.89726682_89726688dup, NC_000010.10:g.89726681_89726688dup, NC_000010.10:g.89726678_89726688dup, NC_000010.10:g.89726674_89726688dup, NC_000010.10:g.89726672_89726688dup, NG_007466.2:g.108478_108493del, NG_007466.2:g.108479_108493del, NG_007466.2:g.108480_108493del, NG_007466.2:g.108481_108493del, NG_007466.2:g.108482_108493del, NG_007466.2:g.108483_108493del, NG_007466.2:g.108484_108493del, NG_007466.2:g.108485_108493del, NG_007466.2:g.108486_108493del, NG_007466.2:g.108487_108493del, NG_007466.2:g.108488_108493del, NG_007466.2:g.108489_108493del, NG_007466.2:g.108490_108493del, NG_007466.2:g.108491_108493del, NG_007466.2:g.108492_108493del, NG_007466.2:g.108493del, NG_007466.2:g.108493dup, NG_007466.2:g.108492_108493dup, NG_007466.2:g.108491_108493dup, NG_007466.2:g.108490_108493dup, NG_007466.2:g.108489_108493dup, NG_007466.2:g.108488_108493dup, NG_007466.2:g.108487_108493dup, NG_007466.2:g.108486_108493dup, NG_007466.2:g.108483_108493dup, NG_007466.2:g.108479_108493dup, NG_007466.2:g.108477_108493dup, NM_000314.8:c.*1444_*1459del, NM_000314.8:c.*1445_*1459del, NM_000314.8:c.*1446_*1459del, NM_000314.8:c.*1447_*1459del, NM_000314.8:c.*1448_*1459del, NM_000314.8:c.*1449_*1459del, NM_000314.8:c.*1450_*1459del, NM_000314.8:c.*1451_*1459del, NM_000314.8:c.*1452_*1459del, NM_000314.8:c.*1453_*1459del, NM_000314.8:c.*1454_*1459del, NM_000314.8:c.*1455_*1459del, NM_000314.8:c.*1456_*1459del, NM_000314.8:c.*1457_*1459del, NM_000314.8:c.*1458_*1459del, NM_000314.8:c.*1459del, NM_000314.8:c.*1459dup, NM_000314.8:c.*1458_*1459dup, NM_000314.8:c.*1457_*1459dup, NM_000314.8:c.*1456_*1459dup, NM_000314.8:c.*1455_*1459dup, NM_000314.8:c.*1454_*1459dup, NM_000314.8:c.*1453_*1459dup, NM_000314.8:c.*1452_*1459dup, NM_000314.8:c.*1449_*1459dup, NM_000314.8:c.*1445_*1459dup, NM_000314.8:c.*1443_*1459dup, NM_000314.7:c.*1444_*1459del, NM_000314.7:c.*1445_*1459del, NM_000314.7:c.*1446_*1459del, NM_000314.7:c.*1447_*1459del, NM_000314.7:c.*1448_*1459del, NM_000314.7:c.*1449_*1459del, NM_000314.7:c.*1450_*1459del, NM_000314.7:c.*1451_*1459del, NM_000314.7:c.*1452_*1459del, NM_000314.7:c.*1453_*1459del, NM_000314.7:c.*1454_*1459del, NM_000314.7:c.*1455_*1459del, NM_000314.7:c.*1456_*1459del, NM_000314.7:c.*1457_*1459del, NM_000314.7:c.*1458_*1459del, NM_000314.7:c.*1459del, NM_000314.7:c.*1459dup, NM_000314.7:c.*1458_*1459dup, NM_000314.7:c.*1457_*1459dup, NM_000314.7:c.*1456_*1459dup, NM_000314.7:c.*1455_*1459dup, NM_000314.7:c.*1454_*1459dup, NM_000314.7:c.*1453_*1459dup, NM_000314.7:c.*1452_*1459dup, NM_000314.7:c.*1449_*1459dup, NM_000314.7:c.*1445_*1459dup, NM_000314.7:c.*1443_*1459dup, NM_000314.6:c.*1444_*1459del, NM_000314.6:c.*1445_*1459del, NM_000314.6:c.*1446_*1459del, NM_000314.6:c.*1447_*1459del, NM_000314.6:c.*1448_*1459del, NM_000314.6:c.*1449_*1459del, NM_000314.6:c.*1450_*1459del, NM_000314.6:c.*1451_*1459del, NM_000314.6:c.*1452_*1459del, NM_000314.6:c.*1453_*1459del, NM_000314.6:c.*1454_*1459del, NM_000314.6:c.*1455_*1459del, NM_000314.6:c.*1456_*1459del, NM_000314.6:c.*1457_*1459del, NM_000314.6:c.*1458_*1459del, NM_000314.6:c.*1459del, NM_000314.6:c.*1459dup, NM_000314.6:c.*1458_*1459dup, NM_000314.6:c.*1457_*1459dup, NM_000314.6:c.*1456_*1459dup, NM_000314.6:c.*1455_*1459dup, NM_000314.6:c.*1454_*1459dup, NM_000314.6:c.*1453_*1459dup, NM_000314.6:c.*1452_*1459dup, NM_000314.6:c.*1449_*1459dup, NM_000314.6:c.*1445_*1459dup, NM_000314.6:c.*1443_*1459dup, NM_000314.5:c.*1444_*1459del, NM_000314.5:c.*1445_*1459del, NM_000314.5:c.*1446_*1459del, NM_000314.5:c.*1447_*1459del, NM_000314.5:c.*1448_*1459del, NM_000314.5:c.*1449_*1459del, NM_000314.5:c.*1450_*1459del, NM_000314.5:c.*1451_*1459del, NM_000314.5:c.*1452_*1459del, NM_000314.5:c.*1453_*1459del, NM_000314.5:c.*1454_*1459del, NM_000314.5:c.*1455_*1459del, NM_000314.5:c.*1456_*1459del, NM_000314.5:c.*1457_*1459del, NM_000314.5:c.*1458_*1459del, NM_000314.5:c.*1459del, NM_000314.5:c.*1459dup, NM_000314.5:c.*1458_*1459dup, NM_000314.5:c.*1457_*1459dup, NM_000314.5:c.*1456_*1459dup, NM_000314.5:c.*1455_*1459dup, NM_000314.5:c.*1454_*1459dup, NM_000314.5:c.*1453_*1459dup, NM_000314.5:c.*1452_*1459dup, NM_000314.5:c.*1449_*1459dup, NM_000314.5:c.*1445_*1459dup, NM_000314.5:c.*1443_*1459dup, NM_000314.4:c.*1444_*1459del, NM_000314.4:c.*1445_*1459del, NM_000314.4:c.*1446_*1459del, NM_000314.4:c.*1447_*1459del, NM_000314.4:c.*1448_*1459del, NM_000314.4:c.*1449_*1459del, NM_000314.4:c.*1450_*1459del, NM_000314.4:c.*1451_*1459del, NM_000314.4:c.*1452_*1459del, NM_000314.4:c.*1453_*1459del, NM_000314.4:c.*1454_*1459del, NM_000314.4:c.*1455_*1459del, NM_000314.4:c.*1456_*1459del, NM_000314.4:c.*1457_*1459del, NM_000314.4:c.*1458_*1459del, NM_000314.4:c.*1459del, NM_000314.4:c.*1459dup, NM_000314.4:c.*1458_*1459dup, NM_000314.4:c.*1457_*1459dup, NM_000314.4:c.*1456_*1459dup, NM_000314.4:c.*1455_*1459dup, NM_000314.4:c.*1454_*1459dup, NM_000314.4:c.*1453_*1459dup, NM_000314.4:c.*1452_*1459dup, NM_000314.4:c.*1449_*1459dup, NM_000314.4:c.*1445_*1459dup, NM_000314.4:c.*1443_*1459dup, NM_001304717.5:c.*1444_*1459del, NM_001304717.5:c.*1445_*1459del, NM_001304717.5:c.*1446_*1459del, NM_001304717.5:c.*1447_*1459del, NM_001304717.5:c.*1448_*1459del, NM_001304717.5:c.*1449_*1459del, NM_001304717.5:c.*1450_*1459del, NM_001304717.5:c.*1451_*1459del, NM_001304717.5:c.*1452_*1459del, NM_001304717.5:c.*1453_*1459del, NM_001304717.5:c.*1454_*1459del, NM_001304717.5:c.*1455_*1459del, NM_001304717.5:c.*1456_*1459del, NM_001304717.5:c.*1457_*1459del, NM_001304717.5:c.*1458_*1459del, NM_001304717.5:c.*1459del, NM_001304717.5:c.*1459dup, NM_001304717.5:c.*1458_*1459dup, NM_001304717.5:c.*1457_*1459dup, NM_001304717.5:c.*1456_*1459dup, NM_001304717.5:c.*1455_*1459dup, NM_001304717.5:c.*1454_*1459dup, NM_001304717.5:c.*1453_*1459dup, NM_001304717.5:c.*1452_*1459dup, NM_001304717.5:c.*1449_*1459dup, NM_001304717.5:c.*1445_*1459dup, NM_001304717.5:c.*1443_*1459dup, NM_001304717.4:c.*1444_*1459del, NM_001304717.4:c.*1445_*1459del, NM_001304717.4:c.*1446_*1459del, NM_001304717.4:c.*1447_*1459del, NM_001304717.4:c.*1448_*1459del, NM_001304717.4:c.*1449_*1459del, NM_001304717.4:c.*1450_*1459del, NM_001304717.4:c.*1451_*1459del, NM_001304717.4:c.*1452_*1459del, NM_001304717.4:c.*1453_*1459del, NM_001304717.4:c.*1454_*1459del, NM_001304717.4:c.*1455_*1459del, NM_001304717.4:c.*1456_*1459del, NM_001304717.4:c.*1457_*1459del, NM_001304717.4:c.*1458_*1459del, NM_001304717.4:c.*1459del, NM_001304717.4:c.*1459dup, NM_001304717.4:c.*1458_*1459dup, NM_001304717.4:c.*1457_*1459dup, NM_001304717.4:c.*1456_*1459dup, NM_001304717.4:c.*1455_*1459dup, NM_001304717.4:c.*1454_*1459dup, NM_001304717.4:c.*1453_*1459dup, NM_001304717.4:c.*1452_*1459dup, NM_001304717.4:c.*1449_*1459dup, NM_001304717.4:c.*1445_*1459dup, NM_001304717.4:c.*1443_*1459dup, NM_001304717.3:c.*1444_*1459del, NM_001304717.3:c.*1445_*1459del, NM_001304717.3:c.*1446_*1459del, NM_001304717.3:c.*1447_*1459del, NM_001304717.3:c.*1448_*1459del, NM_001304717.3:c.*1449_*1459del, NM_001304717.3:c.*1450_*1459del, NM_001304717.3:c.*1451_*1459del, NM_001304717.3:c.*1452_*1459del, NM_001304717.3:c.*1453_*1459del, NM_001304717.3:c.*1454_*1459del, NM_001304717.3:c.*1455_*1459del, NM_001304717.3:c.*1456_*1459del, NM_001304717.3:c.*1457_*1459del, NM_001304717.3:c.*1458_*1459del, NM_001304717.3:c.*1459del, NM_001304717.3:c.*1459dup, NM_001304717.3:c.*1458_*1459dup, NM_001304717.3:c.*1457_*1459dup, NM_001304717.3:c.*1456_*1459dup, NM_001304717.3:c.*1455_*1459dup, NM_001304717.3:c.*1454_*1459dup, NM_001304717.3:c.*1453_*1459dup, NM_001304717.3:c.*1452_*1459dup, NM_001304717.3:c.*1449_*1459dup, NM_001304717.3:c.*1445_*1459dup, NM_001304717.3:c.*1443_*1459dup, NM_001304717.2:c.*1444_*1459del, NM_001304717.2:c.*1445_*1459del, NM_001304717.2:c.*1446_*1459del, NM_001304717.2:c.*1447_*1459del, NM_001304717.2:c.*1448_*1459del, NM_001304717.2:c.*1449_*1459del, NM_001304717.2:c.*1450_*1459del, NM_001304717.2:c.*1451_*1459del, NM_001304717.2:c.*1452_*1459del, NM_001304717.2:c.*1453_*1459del, NM_001304717.2:c.*1454_*1459del, NM_001304717.2:c.*1455_*1459del, NM_001304717.2:c.*1456_*1459del, NM_001304717.2:c.*1457_*1459del, NM_001304717.2:c.*1458_*1459del, NM_001304717.2:c.*1459del, NM_001304717.2:c.*1459dup, NM_001304717.2:c.*1458_*1459dup, NM_001304717.2:c.*1457_*1459dup, NM_001304717.2:c.*1456_*1459dup, NM_001304717.2:c.*1455_*1459dup, NM_001304717.2:c.*1454_*1459dup, NM_001304717.2:c.*1453_*1459dup, NM_001304717.2:c.*1452_*1459dup, NM_001304717.2:c.*1449_*1459dup, NM_001304717.2:c.*1445_*1459dup, NM_001304717.2:c.*1443_*1459dup, NM_001304717.1:c.*1444_*1459del, NM_001304717.1:c.*1445_*1459del, NM_001304717.1:c.*1446_*1459del, NM_001304717.1:c.*1447_*1459del, NM_001304717.1:c.*1448_*1459del, NM_001304717.1:c.*1449_*1459del, NM_001304717.1:c.*1450_*1459del, NM_001304717.1:c.*1451_*1459del, NM_001304717.1:c.*1452_*1459del, NM_001304717.1:c.*1453_*1459del, NM_001304717.1:c.*1454_*1459del, NM_001304717.1:c.*1455_*1459del, NM_001304717.1:c.*1456_*1459del, NM_001304717.1:c.*1457_*1459del, NM_001304717.1:c.*1458_*1459del, NM_001304717.1:c.*1459del, NM_001304717.1:c.*1459dup, NM_001304717.1:c.*1458_*1459dup, NM_001304717.1:c.*1457_*1459dup, NM_001304717.1:c.*1456_*1459dup, NM_001304717.1:c.*1455_*1459dup, NM_001304717.1:c.*1454_*1459dup, NM_001304717.1:c.*1453_*1459dup, NM_001304717.1:c.*1452_*1459dup, NM_001304717.1:c.*1449_*1459dup, NM_001304717.1:c.*1445_*1459dup, NM_001304717.1:c.*1443_*1459dup, NM_001304718.2:c.*1444_*1459del, NM_001304718.2:c.*1445_*1459del, NM_001304718.2:c.*1446_*1459del, NM_001304718.2:c.*1447_*1459del, NM_001304718.2:c.*1448_*1459del, NM_001304718.2:c.*1449_*1459del, NM_001304718.2:c.*1450_*1459del, NM_001304718.2:c.*1451_*1459del, NM_001304718.2:c.*1452_*1459del, NM_001304718.2:c.*1453_*1459del, NM_001304718.2:c.*1454_*1459del, NM_001304718.2:c.*1455_*1459del, NM_001304718.2:c.*1456_*1459del, NM_001304718.2:c.*1457_*1459del, NM_001304718.2:c.*1458_*1459del, NM_001304718.2:c.*1459del, NM_001304718.2:c.*1459dup, NM_001304718.2:c.*1458_*1459dup, NM_001304718.2:c.*1457_*1459dup, NM_001304718.2:c.*1456_*1459dup, NM_001304718.2:c.*1455_*1459dup, NM_001304718.2:c.*1454_*1459dup, NM_001304718.2:c.*1453_*1459dup, NM_001304718.2:c.*1452_*1459dup, NM_001304718.2:c.*1449_*1459dup, NM_001304718.2:c.*1445_*1459dup, NM_001304718.2:c.*1443_*1459dup, NM_001304718.1:c.*1444_*1459del, NM_001304718.1:c.*1445_*1459del, NM_001304718.1:c.*1446_*1459del, NM_001304718.1:c.*1447_*1459del, NM_001304718.1:c.*1448_*1459del, NM_001304718.1:c.*1449_*1459del, NM_001304718.1:c.*1450_*1459del, NM_001304718.1:c.*1451_*1459del, NM_001304718.1:c.*1452_*1459del, NM_001304718.1:c.*1453_*1459del, NM_001304718.1:c.*1454_*1459del, NM_001304718.1:c.*1455_*1459del, NM_001304718.1:c.*1456_*1459del, NM_001304718.1:c.*1457_*1459del, NM_001304718.1:c.*1458_*1459del, NM_001304718.1:c.*1459del, NM_001304718.1:c.*1459dup, NM_001304718.1:c.*1458_*1459dup, NM_001304718.1:c.*1457_*1459dup, NM_001304718.1:c.*1456_*1459dup, NM_001304718.1:c.*1455_*1459dup, NM_001304718.1:c.*1454_*1459dup, NM_001304718.1:c.*1453_*1459dup, NM_001304718.1:c.*1452_*1459dup, NM_001304718.1:c.*1449_*1459dup, NM_001304718.1:c.*1445_*1459dup, NM_001304718.1:c.*1443_*1459dup, NW_013171807.1:g.182705_182720del, NW_013171807.1:g.182706_182720del, NW_013171807.1:g.182707_182720del, NW_013171807.1:g.182708_182720del, NW_013171807.1:g.182709_182720del, NW_013171807.1:g.182710_182720del, NW_013171807.1:g.182711_182720del, NW_013171807.1:g.182712_182720del, NW_013171807.1:g.182713_182720del, NW_013171807.1:g.182714_182720del, NW_013171807.1:g.182715_182720del, NW_013171807.1:g.182716_182720del, NW_013171807.1:g.182717_182720del, NW_013171807.1:g.182718_182720del, NW_013171807.1:g.182719_182720del, NW_013171807.1:g.182720del, NW_013171807.1:g.182720dup, NW_013171807.1:g.182719_182720dup, NW_013171807.1:g.182718_182720dup, NW_013171807.1:g.182717_182720dup, NW_013171807.1:g.182716_182720dup, NW_013171807.1:g.182715_182720dup, NW_013171807.1:g.182714_182720dup, NW_013171807.1:g.182713_182720dup, NW_013171807.1:g.182710_182720dup, NW_013171807.1:g.182706_182720dup, NW_013171807.1:g.182704_182720dup

Select item 78961929.

rs7896192 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:87939083 (GRCh38)
10:89698840 (GRCh37)
Canonical SPDI:: NC_000010.11:87939082:A:G
Gene:: PTEN (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.012691/183 (ALFA)
G=0./0 (ALSPAC)
G=0.00027/1 (TWINSUK)
G=0.00463/1 (Qatari)
G=0.009146/3 (HapMap)
G=0.020259/2840 (GnomAD)
G=0.0203/102 (1000Genomes)
G=0.02135/5651 (TOPMED)
A=0.5/8 (SGDP_PRJ)
HGVS:: NC_000010.11:g.87939083A>G, NC_000010.10:g.89698840A>G, NG_007466.2:g.80645A>G, NW_013171807.1:g.154875A>G

Select item 965149210.

rs9651492 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:87933216 (GRCh38)
10:89692973 (GRCh37)
Canonical SPDI:: NC_000010.11:87933215:G:A,NC_000010.11:87933215:G:C
Gene:: PTEN (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by cluster
HGVS:: NC_000010.11:g.87933216G>A, NC_000010.11:g.87933216G>C, NC_000010.10:g.89692973G>A, NC_000010.10:g.89692973G>C, NG_007466.2:g.74778G>A, NG_007466.2:g.74778G>C, NM_000314.8:c.457G>A, NM_000314.8:c.457G>C, NM_000314.7:c.457G>A, NM_000314.7:c.457G>C, NM_000314.6:c.457G>A, NM_000314.6:c.457G>C, NM_000314.5:c.457G>A, NM_000314.5:c.457G>C, NM_000314.4:c.457G>A, NM_000314.4:c.457G>C, NM_001304717.5:c.976G>A, NM_001304717.5:c.976G>C, NM_001304717.4:c.976G>A, NM_001304717.4:c.976G>C, NM_001304717.3:c.976G>A, NM_001304717.3:c.976G>C, NM_001304717.2:c.976G>A, NM_001304717.2:c.976G>C, NM_001304717.1:c.976G>A, NM_001304717.1:c.976G>C, NM_001304718.2:c.-294G>A, NM_001304718.2:c.-294G>C, NM_001304718.1:c.-294G>A, NM_001304718.1:c.-294G>C, NW_013171807.1:g.149008G>A, NW_013171807.1:g.149008G>C, NP_000305.3:p.Asp153Asn, NP_000305.3:p.Asp153His, NP_001291646.4:p.Asp326Asn, NP_001291646.4:p.Asp326His

Select item 1120259211.

rs11202592 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:87864461 (GRCh38)
10:89624218 (GRCh37)
Canonical SPDI:: NC_000010.11:87864460:C:G,NC_000010.11:87864460:C:T
Gene:: PTEN (Varview), KLLN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
Clinical significance:: uncertain-significance,benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000203/10 (ALFA)
G=0./0 (TWINSUK)
G=0.000154/2 (GoESP)
G=0.000223/1 (Estonian)
G=0.000259/1 (ALSPAC)
G=0.00139/195 (GnomAD)
G=0.002509/664 (TOPMED)
G=0.003624/440 (ExAC)
G=0.003821/961 (GnomAD_exomes)
G=0.009681/48 (1000Genomes)
G=0.025109/46 (Korea1K)
G=0.035636/597 (TOMMO)
G=0.040726/119 (KOREAN)
G=0.073409/45 (Vietnamese)
C=0.5/7 (SGDP_PRJ)
HGVS:: NC_000010.11:g.87864461C>G, NC_000010.11:g.87864461C>T, NC_000010.10:g.89624218C>G, NC_000010.10:g.89624218C>T, NG_007466.2:g.6023C>G, NG_007466.2:g.6023C>T, NM_000314.8:c.-9C>G, NM_000314.8:c.-9C>T, NM_000314.7:c.-9C>G, NM_000314.7:c.-9C>T, NM_000314.6:c.-9C>G, NM_000314.6:c.-9C>T, NM_000314.5:c.-9C>G, NM_000314.5:c.-9C>T, NM_000314.4:c.-9C>G, NM_000314.4:c.-9C>T, NM_001304717.5:c.511C>G, NM_001304717.5:c.511C>T, NM_001304717.4:c.511C>G, NM_001304717.4:c.511C>T, NM_001304717.3:c.511C>G, NM_001304717.3:c.511C>T, NM_001304717.2:c.511C>G, NM_001304717.2:c.511C>T, NM_001304717.1:c.511C>G, NM_001304717.1:c.511C>T, NM_001304718.2:c.-714C>G, NM_001304718.2:c.-714C>T, NM_001304718.1:c.-714C>G, NM_001304718.1:c.-714C>T, NW_013171807.1:g.80284C>G, NW_013171807.1:g.80284C>T, NG_033079.1:g.3977G>C, NG_033079.1:g.3977G>A, NP_001291646.4:p.Leu171Val, NP_001291646.4:p.Leu171Phe

PubMed

Select item 1120260712.

rs11202607 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:87967657 (GRCh38)
10:89727414 (GRCh37)
Canonical SPDI:: NC_000010.11:87967656:C:T
Gene:: PTEN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.067809/14688 (ALFA)
T=0.063311/244 (ALSPAC)
T=0.063646/236 (TWINSUK)
T=0.06759/9447 (GnomAD)
T=0.072991/327 (Estonian)
T=0.073144/134 (Korea1K)
T=0.073407/19430 (TOPMED)
T=0.078498/230 (KOREAN)
T=0.078526/1316 (TOMMO)
T=0.079169/396 (1000Genomes)
T=0.079533/150 (HapMap)
T=0.084933/177 (HGDP_Stanford)
T=0.086142/46 (MGP)
T=0.088333/53 (NorthernSweden)
T=0.098131/21 (Vietnamese)
T=0.1/2 (PRJEB36033)
T=0.1/4 (GENOME_DK)
T=0.12037/26 (Qatari)
C=0.45098/46 (SGDP_PRJ)
C=0.5/3 (Siberian)
HGVS:: NC_000010.11:g.87967657C>T, NC_000010.10:g.89727414C>T, NG_007466.2:g.109219C>T, NM_000314.8:c.*2185C>T, NM_000314.7:c.*2185C>T, NM_000314.6:c.*2185C>T, NM_000314.5:c.*2185C>T, NM_000314.4:c.*2185C>T, NM_001304717.5:c.*2185C>T, NM_001304717.4:c.*2185C>T, NM_001304717.3:c.*2185C>T, NM_001304717.2:c.*2185C>T, NM_001304717.1:c.*2185C>T, NM_001304718.2:c.*2185C>T, NM_001304718.1:c.*2185C>T, NW_013171807.1:g.183446C>T

PubMed

Select item 1159142713.

rs11591427 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:87968293 (GRCh38)
10:89728050 (GRCh37)
Canonical SPDI:: NC_000010.11:87968292:A:T
Gene:: PTEN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000347/5 (ALFA)
T=0./0 (HapMap)
T=0.000178/25 (GnomAD)
T=0.000189/50 (TOPMED)
T=0.00027/1 (TWINSUK)
T=0.000778/3 (ALSPAC)
HGVS:: NC_000010.11:g.87968293A>T, NC_000010.10:g.89728050A>T, NG_007466.2:g.109855A>T, NM_000314.8:c.*2821A>T, NM_000314.7:c.*2821A>T, NM_000314.6:c.*2821A>T, NM_000314.5:c.*2821A>T, NM_000314.4:c.*2821A>T, NM_001304717.5:c.*2821A>T, NM_001304717.4:c.*2821A>T, NM_001304717.3:c.*2821A>T, NM_001304717.2:c.*2821A>T, NM_001304717.1:c.*2821A>T, NM_001304718.2:c.*2821A>T, NM_001304718.1:c.*2821A>T, NW_013171807.1:g.184082A>T

Select item 1257378714.

rs12573787 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:87863959 (GRCh38)
10:89623716 (GRCh37)
Canonical SPDI:: NC_000010.11:87863958:G:A,NC_000010.11:87863958:G:C
Gene:: PTEN (Varview), KLLN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.059877/956 (ALFA)
A=0.078704/17 (Qatari)
A=0.106967/479 (Estonian)
A=0.131195/34726 (TOPMED)
A=0.141667/85 (NorthernSweden)
A=0.146341/564 (ALSPAC)
A=0.152913/567 (TWINSUK)
A=0.155059/777 (1000Genomes)
A=0.275/11 (GENOME_DK)
A=0.337483/976 (KOREAN)
A=0.34145/603 (Korea1K)
A=0.346028/5795 (TOMMO)
G=0.370787/66 (SGDP_PRJ)
G=0.4375/7 (Siberian)
HGVS:: NC_000010.11:g.87863959G>A, NC_000010.11:g.87863959G>C, NC_000010.10:g.89623716G>A, NC_000010.10:g.89623716G>C, NG_007466.2:g.5522G>A, NG_007466.2:g.5522G>C, NM_000314.8:c.-511G>A, NM_000314.8:c.-511G>C, NM_000314.7:c.-510G>A, NM_000314.7:c.-510G>C, NM_000314.6:c.-510G>A, NM_000314.6:c.-510G>C, NM_000314.5:c.-510G>A, NM_000314.5:c.-510G>C, NM_000314.4:c.-510G>A, NM_000314.4:c.-510G>C, NM_001304717.5:c.10G>A, NM_001304717.5:c.10G>C, NM_001304717.4:c.10G>A, NM_001304717.4:c.10G>C, NM_001304717.3:c.10G>A, NM_001304717.3:c.10G>C, NM_001304717.2:c.10G>A, NM_001304717.2:c.10G>C, NM_001304717.1:c.10G>A, NM_001304717.1:c.10G>C, NM_001304718.2:c.-1215G>A, NM_001304718.2:c.-1215G>C, NM_001304718.1:c.-1215G>A, NM_001304718.1:c.-1215G>C, NW_013171807.1:g.79783G>A, NW_013171807.1:g.79783G>C, NG_033079.1:g.4479C>T, NG_033079.1:g.4479C>G, NP_001291646.4:p.Gly4Arg, NP_001291646.4:p.Gly4Arg

PubMed

Select item 1784909015.

rs17849090 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 10:87957941 (GRCh38)
10:89717698 (GRCh37)
Canonical SPDI:: NC_000010.11:87957940:T:A,NC_000010.11:87957940:T:C,NC_000010.11:87957940:T:G
Gene:: PTEN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Clinical significance:: uncertain-significance,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (KOREAN)
C=0.000008/1 (ExAC)
C=0.000008/2 (GnomAD_exomes)
C=0.000142/2 (TOMMO)
HGVS:: NC_000010.11:g.87957941T>A, NC_000010.11:g.87957941T>C, NC_000010.11:g.87957941T>G, NC_000010.10:g.89717698T>A, NC_000010.10:g.89717698T>C, NC_000010.10:g.89717698T>G, NG_007466.2:g.99503T>A, NG_007466.2:g.99503T>C, NG_007466.2:g.99503T>G, NM_000314.8:c.723T>A, NM_000314.8:c.723T>C, NM_000314.8:c.723T>G, NM_000314.7:c.723T>A, NM_000314.7:c.723T>C, NM_000314.7:c.723T>G, NM_000314.6:c.723T>A, NM_000314.6:c.723T>C, NM_000314.6:c.723T>G, NM_000314.5:c.723T>A, NM_000314.5:c.723T>C, NM_000314.5:c.723T>G, NM_000314.4:c.723T>A, NM_000314.4:c.723T>C, NM_000314.4:c.723T>G, NM_001304717.5:c.1242T>A, NM_001304717.5:c.1242T>C, NM_001304717.5:c.1242T>G, NM_001304717.4:c.1242T>A, NM_001304717.4:c.1242T>C, NM_001304717.4:c.1242T>G, NM_001304717.3:c.1242T>A, NM_001304717.3:c.1242T>C, NM_001304717.3:c.1242T>G, NM_001304717.2:c.1242T>A, NM_001304717.2:c.1242T>C, NM_001304717.2:c.1242T>G, NM_001304717.1:c.1242T>A, NM_001304717.1:c.1242T>C, NM_001304717.1:c.1242T>G, NM_001304718.2:c.132T>A, NM_001304718.2:c.132T>C, NM_001304718.2:c.132T>G, NM_001304718.1:c.132T>A, NM_001304718.1:c.132T>C, NM_001304718.1:c.132T>G, NW_013171807.1:g.173730T>A, NW_013171807.1:g.173730T>C, NW_013171807.1:g.173730T>G, NP_000305.3:p.Phe241Leu, NP_000305.3:p.Phe241Leu, NP_001291646.4:p.Phe414Leu, NP_001291646.4:p.Phe414Leu, NP_001291647.1:p.Phe44Leu, NP_001291647.1:p.Phe44Leu

Select item 3400347316.

rs34003473 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:87960883 (GRCh38)
10:89720640 (GRCh37)
Canonical SPDI:: NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTT,NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTT,NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:87960876:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PTEN (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign-likely-benign,benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
T=0.275/11 (GENOME_DK)
HGVS:: 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, 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, 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, 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

Select item 3404731317.

rs34047313 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 10:87932979 (GRCh38)
10:89692736 (GRCh37)
Canonical SPDI:: NC_000010.11:87932978:T:A,NC_000010.11:87932978:T:C,NC_000010.11:87932978:T:G
Gene:: PTEN (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.001239/29 (ALFA)
G=0.00045/112 (GnomAD_exomes)
G=0.000556/66 (ExAC)
G=0.001405/7 (1000Genomes)
G=0.00177/23 (GoESP)
G=0.001995/528 (TOPMED)
G=0.001997/280 (GnomAD)
HGVS:: NC_000010.11:g.87932979T>A, NC_000010.11:g.87932979T>C, NC_000010.11:g.87932979T>G, NC_000010.10:g.89692736T>A, NC_000010.10:g.89692736T>C, NC_000010.10:g.89692736T>G, NG_007466.2:g.74541T>A, NG_007466.2:g.74541T>C, NG_007466.2:g.74541T>G, NW_013171807.1:g.148771T>A, NW_013171807.1:g.148771T>C, NW_013171807.1:g.148771T>G

Select item 3414075818.

rs34140758 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 10:87967037 (GRCh38)
10:89726794 (GRCh37)
Canonical SPDI:: NC_000010.11:87967036:C:A,NC_000010.11:87967036:C:G
Gene:: PTEN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.003613/116 (ALFA)
A=0.011317/1551 (GnomAD)
A=0.011399/57 (1000Genomes)
A=0.011723/3103 (TOPMED)
A=0.013889/3 (Qatari)
C=0.5/3 (SGDP_PRJ)
HGVS:: NC_000010.11:g.87967037C>A, NC_000010.11:g.87967037C>G, NC_000010.10:g.89726794C>A, NC_000010.10:g.89726794C>G, NG_007466.2:g.108599C>A, NG_007466.2:g.108599C>G, NM_000314.8:c.*1565C>A, NM_000314.8:c.*1565C>G, NM_000314.7:c.*1565C>A, NM_000314.7:c.*1565C>G, NM_000314.6:c.*1565C>A, NM_000314.6:c.*1565C>G, NM_000314.5:c.*1565C>A, NM_000314.5:c.*1565C>G, NM_000314.4:c.*1565C>A, NM_000314.4:c.*1565C>G, NM_001304717.5:c.*1565C>A, NM_001304717.5:c.*1565C>G, NM_001304717.4:c.*1565C>A, NM_001304717.4:c.*1565C>G, NM_001304717.3:c.*1565C>A, NM_001304717.3:c.*1565C>G, NM_001304717.2:c.*1565C>A, NM_001304717.2:c.*1565C>G, NM_001304717.1:c.*1565C>A, NM_001304717.1:c.*1565C>G, NM_001304718.2:c.*1565C>A, NM_001304718.2:c.*1565C>G, NM_001304718.1:c.*1565C>A, NM_001304718.1:c.*1565C>G, NW_013171807.1:g.182826C>A, NW_013171807.1:g.182826C>G

PubMed

Select item 3414910219.

rs34149102 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 10:87863443 (GRCh38)
10:89623200 (GRCh37)
Canonical SPDI:: NC_000010.11:87863442:C:A,NC_000010.11:87863442:C:G,NC_000010.11:87863442:C:T
Gene:: PTEN (Varview), KLLN (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Clinical significance:: uncertain-significance,benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001232/23 (ALFA)
T=0.000035/1 (TOMMO)
A=0.00203/10 (1000Genomes)
A=0.003333/2 (NorthernSweden)
A=0.004241/19 (Estonian)
A=0.005933/22 (TWINSUK)
A=0.006829/958 (GnomAD)
A=0.007525/29 (ALSPAC)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000010.11:g.87863443C>A, NC_000010.11:g.87863443C>G, NC_000010.11:g.87863443C>T, NC_000010.10:g.89623200C>A, NC_000010.10:g.89623200C>G, NC_000010.10:g.89623200C>T, NG_007466.2:g.5006C>A, NG_007466.2:g.5006C>G, NG_007466.2:g.5006C>T, NM_000314.4:c.-1026C>A, NM_000314.4:c.-1026C>G, NM_000314.4:c.-1026C>T, NG_033079.1:g.4995G>T, NG_033079.1:g.4995G>C, NG_033079.1:g.4995G>A, NM_001126049.2:c.-956G>T, NM_001126049.2:c.-956G>C, NM_001126049.2:c.-956G>A, NW_013171807.1:g.79267C>A, NW_013171807.1:g.79267C>G, NW_013171807.1:g.79267C>T, NM_000314.6:c.-1026C>A, NM_000314.6:c.-1026C>G, NM_000314.6:c.-1026C>T, NM_000314.5:c.-1026C>A, NM_000314.5:c.-1026C>G, NM_000314.5:c.-1026C>T, NM_001304717.4:c.-507C>A, NM_001304717.4:c.-507C>G, NM_001304717.4:c.-507C>T, NM_001304718.1:c.-1731C>A, NM_001304718.1:c.-1731C>G, NM_001304718.1:c.-1731C>T, NM_001304717.2:c.-507C>A, NM_001304717.2:c.-507C>G, NM_001304717.2:c.-507C>T, NM_001304717.1:c.-507C>A, NM_001304717.1:c.-507C>G, NM_001304717.1:c.-507C>T

PubMed

Select item 3424893220.

rs34248932 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:87875205 (GRCh38)
10:89634962 (GRCh37)
Canonical SPDI:: NC_000010.11:87875204:T:C
Gene:: PTEN (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.002288/33 (ALFA)
C=0.001002/1 (GoNL)
C=0.001557/6 (ALSPAC)
C=0.001667/1 (NorthernSweden)
C=0.002157/8 (TWINSUK)
C=0.003156/442 (GnomAD)
C=0.003604/954 (TOPMED)
C=0.004216/21 (1000Genomes)
C=0.009259/2 (Qatari)
HGVS:: NC_000010.11:g.87875205T>C, NC_000010.10:g.89634962T>C, NG_007466.2:g.16767T>C, NW_013171807.1:g.91029T>C

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