rs398124321, 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 60850486 splice region variant G/A;T snv 4.0E-06 0.700 1.000 6 2004 2018
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
0.925 0.080 8 60850486 splice region variant G/A;T snv 4.0E-06 0.700 1.000 3 2004 2012