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.
Holoprosencephaly
CUI: C0079541
Disease: Holoprosencephaly
45 0.882 0.160 10 101771522 stop gained G/A snv 4.0E-06 0.700 0
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
CUI: C3552574
Disease: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
10 0.882 0.160 10 101771522 stop gained G/A snv 4.0E-06 0.700 0
Idiopathic hypogonadotropic hypogonadism
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
66 0.882 0.160 10 101771522 stop gained G/A snv 4.0E-06 0.010 1.000 1 2010 2010