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rs121909229

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6.3 Hereditary cancer predisposing syndrome
(G;G) 0 common in clinvar
(G;T) 6.3 Hereditary cancer predisposing syndrome


Make rs121909229(A;A)
ReferenceGRCh38 38.1/141
Chromosome10
Position87933148
GenePTEN
is asnp
is mentioned by
dbSNPrs121909229
dbSNP (old)rs121909229
ClinGenrs121909229
ebirs121909229
HLIrs121909229
Exacrs121909229
Varsomers121909229
Maprs121909229
PheGenIrs121909229
Biobankrs121909229
1000 genomesrs121909229
hgdprs121909229
ensemblrs121909229
gopubmedrs121909229
geneviewrs121909229
scholarrs121909229
googlers121909229
pharmgkbrs121909229
gwascentralrs121909229
openSNPrs121909229
23andMers121909229
23andMe allrs121909229
SNP Nexus

SNPshotrs121909229
SNPdbers121909229
MSV3drs121909229
GWAS Ctlgrs121909229
Max Magnitude6.3
OMIM601728
Desc
Variant0017
Relatedalso
ClinVar
Risk rs121909229(A;A) rs121909229(C;C) rs121909229(T;T)
Alt rs121909229(A;A) rs121909229(C;C) rs121909229(T;T)
Reference Rs121909229(G;G)
Significance Pathogenic
Disease Cowden syndrome 1 Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome not provided Neoplasm Colorectal Neoplasms Adenocarcinoma of prostate Malignant melanoma of skin Adenocarcinoma of stomach Ovarian Neoplasms Neoplasm of breast Uterine cervical neoplasms Uterine Carcinosarcoma Malignant neoplasm of body of uterus Glioblastoma Squamous cell carcinoma of lung Renal cell carcinoma Small cell lung cancer Squamous cell carcinoma of the head and neck
Variation info
Gene PTEN
CLNDBN Cowden syndrome 1 Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome not provided Neoplasm Colorectal Neoplasms Adenocarcinoma of prostate Malignant melanoma of skin Adenocarcinoma of stomach Ovarian Neoplasms Neoplasm of breast Uterine cervical neoplasms Uterine Carcinosarcoma Malignant neoplasm of body of uterus Glioblastoma Squamous cell carcinoma of lung Renal cell carcinoma Small cell lung cancer Squamous cell carcinoma of the head and neck
Reversed 0
HGVS NC_000010.10:g.89692905G>A; NC_000010.10:g.89692905G>C; NC_000010.10:g.89692905G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008275.2, RCV000131067.4, RCV000178761.1, RCV000212880.1, RCV000419778.1, RCV000420485.1, RCV000420647.1, RCV000421074.1, RCV000422627.1, RCV000427853.1, RCV000429175.1, RCV000429864.1, RCV000432211.1, RCV000432862.1, RCV000435236.1, RCV000437651.1, RCV000438720.1, RCV000439397.1, RCV000440076.1, RCV000130803.2, RCV000418382.1, RCV000418980.1, RCV000421218.1, RCV000426378.1, RCV000427982.1, RCV000428635.1, RCV000429247.1, RCV000435997.1, RCV000436686.1, RCV000437255.1, RCV000438856.1, RCV000441753.1, RCV000443617.1, RCV000419474.1, RCV000421727.1, RCV000422329.1, RCV000424192.1, RCV000427024.1, RCV000429105.1, RCV000429740.1, RCV000431964.1, RCV000434449.1, RCV000439348.1, RCV000440004.1, RCV000443701.1, RCV000443776.1, RCV000482735.1, RCV000490825.1,