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.
BREAST CANCER, SUSCEPTIBILITY TO
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
24 0.882 0.200 10 102834074 stop gained G/A snv 0.700 0
17-Alpha-Hydroxylase/17,20 Lyase Deficiency
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
8 0.882 0.200 10 102834074 stop gained G/A snv 0.020 1.000 2 1992 2016
Adrenal hyperplasia, congenital, type 5
CUI: C0268285
Disease: Adrenal hyperplasia, congenital, type 5
27 0.882 0.200 10 102834074 stop gained G/A snv 0.010 1.000 1 2005 2005
Ambiguous Genitalia
CUI: C0266362
Disease: Ambiguous Genitalia
14 0.882 0.200 10 102834074 stop gained G/A snv 0.010 1.000 1 1992 1992