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rs121909224

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;T) 6.3 Macrocephaly/autism syndrome; Bannayan-Riley-Ruvalcaba syndrome
Make rs121909224(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position87933147
GenePTEN
is asnp
is mentioned by
dbSNPrs121909224
dbSNP (old)rs121909224
ClinGenrs121909224
ebirs121909224
HLIrs121909224
Exacrs121909224
Gnomadrs121909224
Varsomers121909224
Maprs121909224
PheGenIrs121909224
Biobankrs121909224
1000 genomesrs121909224
hgdprs121909224
ensemblrs121909224
gopubmedrs121909224
geneviewrs121909224
scholarrs121909224
googlers121909224
pharmgkbrs121909224
gwascentralrs121909224
openSNPrs121909224
23andMers121909224
23andMe allrs121909224
SNP Nexus

SNPshotrs121909224
SNPdbers121909224
MSV3drs121909224
GWAS Ctlgrs121909224
Max Magnitude6.3
OMIM601728
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121909224(G;G) rs121909224(T;T)
Alt rs121909224(G;G) rs121909224(T;T)
Reference Rs121909224(C;C)
Significance Pathogenic
Disease Renal cell carcinoma Malignant melanoma of skin Malignant neoplasm of body of uterus Uterine Carcinosarcoma Adenocarcinoma of prostate Glioblastoma Malignant tumor of floor of mouth Uterine cervical neoplasms Squamous cell carcinoma of the head and neck Ovarian Neoplasms Colorectal Neoplasms Squamous cell carcinoma of lung Small cell lung cancer Neoplasm of breast Adenocarcinoma of stomach Cowden syndrome 1 Bannayan-Riley-Ruvalcaba syndrome Macrocephaly/autism syndrome not provided Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Neoplasm of brain
Variation info
Gene PTEN
CLNDBN Renal cell carcinoma Malignant melanoma of skin Malignant neoplasm of body of uterus Uterine Carcinosarcoma Adenocarcinoma of prostate Glioblastoma Malignant tumor of floor of mouth Uterine cervical neoplasms Squamous cell carcinoma of the head and neck Ovarian Neoplasms Colorectal Neoplasms Squamous cell carcinoma of lung Small cell lung cancer Neoplasm of breast Adenocarcinoma of stomach Cowden syndrome 1 Bannayan-Riley-Ruvalcaba syndrome Macrocephaly/autism syndrome not provided Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Neoplasm of brain
Reversed 0
HGVS NC_000010.10:g.89692904C>G; NC_000010.10:g.89692904C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000417737.1, RCV000422318.1, RCV000423355.1, RCV000423561.1, RCV000425625.1, RCV000430748.1, RCV000431010.1, RCV000433015.1, RCV000433261.1, RCV000434958.1, RCV000435427.1, RCV000440613.1, RCV000441747.1, RCV000443803.1, RCV000444349.1, RCV000008263.5, RCV000008264.4, RCV000008265.4, RCV000078615.3, RCV000132187.5, RCV000199099.3, RCV000424529.1, RCV000443514.1,