rs374434303, PNPLA6

N. diseases: 4
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.
Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism
CUI: C1859093
Disease: Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism
11 0.882 0.200 19 7561509 missense variant C/A;T snv 3.8E-05 0.700 1.000 2 2014 2014
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.882 0.200 19 7561509 missense variant C/A;T snv 3.8E-05 0.700 0
Dysarthria
CUI: C0013362
Disease: Dysarthria
54 0.882 0.200 19 7561509 missense variant C/A;T snv 3.8E-05 0.700 0
Idiopathic hypogonadotropic hypogonadism
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
66 0.882 0.200 19 7561509 missense variant C/A;T snv 3.8E-05 0.700 0