rs786205228, PPP2R1A

N. diseases: 6
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.
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
CUI: C4225352
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
5 0.827 0.080 19 52212718 missense variant C/G;T snv 0.800 0
Malignant Uterine Corpus Neoplasm
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
152 0.827 0.080 19 52212718 missense variant C/G;T snv 0.700 1.000 1 2016 2016
Uterine Carcinosarcoma
CUI: C0280630
Disease: Uterine Carcinosarcoma
80 0.827 0.080 19 52212718 missense variant C/G;T snv 0.700 1.000 1 2016 2016
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
326 0.827 0.080 19 52212718 missense variant C/G;T snv 0.010 1.000 1 2019 2019
Malignant neoplasm of endometrium
CUI: C0007103
Disease: Malignant neoplasm of endometrium
197 0.827 0.080 19 52212718 missense variant C/G;T snv 0.010 1.000 1 2019 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.827 0.080 19 52212718 missense variant C/G;T snv 0.010 1.000 1 2019 2019