rs1563664506, CHD7

N. diseases: 2
Source: INFERRED ×
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
0.925 0.080 8 60856161 frameshift variant A/- del 0.700 0
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
0.925 0.080 8 60856161 frameshift variant A/- del 0.700 0