rs397514606, AKT3

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.
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2
CUI: C4014738
Disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2
4 0.763 0.320 1 243695714 missense variant C/T snv 0.800 1.000 4 2012 2014
melanoma
CUI: C0025202
Disease: melanoma
515 0.763 0.320 1 243695714 missense variant C/T snv 0.710 1.000 1 2008 2008
Acute leukemia
CUI: C0085669
Disease: Acute leukemia
50 0.763 0.320 1 243695714 missense variant C/T snv 0.010 1.000 1 2008 2008
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.763 0.320 1 243695714 missense variant C/T snv 0.010 1.000 1 2008 2008
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 0.763 0.320 1 243695714 missense variant C/T snv 0.010 1.000 1 2019 2019
Deformity
CUI: C0302142
Disease: Deformity
26 0.763 0.320 1 243695714 missense variant C/T snv 0.010 1.000 1 2019 2019
Endometrial adenocarcinoma
CUI: C1153706
Disease: Endometrial adenocarcinoma
5 0.763 0.320 1 243695714 missense variant C/T snv 0.010 1.000 1 2016 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 0.763 0.320 1 243695714 missense variant C/T snv 0.010 1.000 1 2008 2008
Malformations of Cortical Development
CUI: C1955869
Disease: Malformations of Cortical Development
5 0.763 0.320 1 243695714 missense variant C/T snv 0.010 1.000 1 2015 2015
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.763 0.320 1 243695714 missense variant C/T snv 0.010 1.000 1 2008 2008
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
315 0.763 0.320 1 243695714 missense variant C/T snv 0.010 1.000 1 2008 2008
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.763 0.320 1 243695714 missense variant C/T snv 0.010 1.000 1 2008 2008
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.763 0.320 1 243695714 missense variant C/T snv 0.010 1.000 1 2016 2016
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.763 0.320 1 243695714 missense variant C/T snv 0.010 1.000 1 2008 2008