rs1064793083, CHD7

N. diseases: 4
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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.882 0.080 8 60828682 missense variant C/T snv 0.700 1.000 20 1999 2016
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.882 0.080 8 60828682 missense variant C/T snv 0.700 1.000 20 1999 2016
CHARGE Syndrome
CUI: C0265354
Disease: CHARGE Syndrome
0.882 0.080 8 60828682 missense variant C/T snv 0.700 0
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
0.882 0.080 8 60828682 missense variant C/T snv 0.700 0