rs121913294, PTEN

N. diseases: 14
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.
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
194 0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 0.700 1.000 10 1998 2017
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
139 0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 0.700 1.000 6 2000 2015
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
204 0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 0.700 1.000 2 2014 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 0.700 1.000 2 2000 2010
Attention deficit hyperactivity disorder
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
420 0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 0.700 0
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
78 0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 0.700 0
Nevus
CUI: C0027960
Disease: Nevus
43 0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 0.700 0
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 0.700 0
Thyroid Diseases
CUI: C0040128
Disease: Thyroid Diseases
26 0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 0.700 0
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 0.010 1.000 1 2010 2010
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 0.010 1.000 1 2010 2010
Tumor Promotion
CUI: C1519689
Disease: Tumor Promotion
2 0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 0.010 1.000 1 2010 2010