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.
Idiopathic hypogonadotropic hypogonadism
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
66 0.925 0.160 7 5711761 splice region variant C/T snv 0.700 0
Leukodystrophy
CUI: C0023520
Disease: Leukodystrophy
27 0.925 0.160 7 5711761 splice region variant C/T snv 0.700 0