rs121909232, PTEN

N. diseases: 9
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cerebellar Granule Cell Hypertrophy and Megalencephaly
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
56 0.776 0.160 10 87952258 stop gained C/A;G snv 4.0E-06 0.700 1.000 5 1975 2014
CEREBELLOPARENCHYMAL DISORDER VI
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
56 0.776 0.160 10 87952258 stop gained C/A;G snv 4.0E-06 0.700 1.000 5 1975 2014
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
139 0.776 0.160 10 87952258 stop gained C/A;G snv 4.0E-06 0.700 1.000 5 1975 2014
Lhermitte-Duclos disease
CUI: C0391826
Disease: Lhermitte-Duclos disease
83 0.776 0.160 10 87952258 stop gained C/A;G snv 4.0E-06 0.700 1.000 5 1975 2014
Proteus-Like Syndrome (disorder)
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
56 0.776 0.160 10 87952258 stop gained C/A;G snv 4.0E-06 0.700 1.000 5 1975 2014
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
194 0.776 0.160 10 87952258 stop gained C/A;G snv 4.0E-06 0.700 1.000 5 1975 2014
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
56 0.776 0.160 10 87952258 stop gained C/A;G snv 4.0E-06 0.700 1.000 5 1975 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.776 0.160 10 87952258 stop gained C/A;G snv 4.0E-06 0.700 1.000 3 2001 2014
melanoma
CUI: C0025202
Disease: melanoma
515 0.776 0.160 10 87952258 stop gained C/A;G snv 4.0E-06 0.700 0