rs886039915, CHD4

N. diseases: 3
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.
SIFRIM-HITZ-WEISS SYNDROME
CUI: C4310688
Disease: SIFRIM-HITZ-WEISS SYNDROME
7 0.925 12 6591713 missense variant C/T snv 0.800 0
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.925 12 6591713 missense variant C/T snv 0.700 1.000 9 2010 2017
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.925 12 6591713 missense variant C/T snv 0.700 1.000 9 2010 2017