rs121434343, CHD7

N. diseases: 2
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.
CHARGE Syndrome
CUI: C0265354
Disease: CHARGE Syndrome
205 0.925 0.080 8 60853047 missense variant G/A snv 0.800 1.000 15 2004 2015
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
25 0.925 0.080 8 60853047 missense variant G/A snv 0.700 1.000 3 2008 2014