rs1057518936, PNPLA6

N. diseases: 3
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 Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.925 0.120 19 7541025 missense variant C/G snv 0.700 0
Dysarthria
CUI: C0013362
Disease: Dysarthria
54 0.925 0.120 19 7541025 missense variant C/G snv 0.700 0
Idiopathic hypogonadotropic hypogonadism
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
66 0.925 0.120 19 7541025 missense variant C/G snv 0.700 0