rs797044870, CDC42

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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.925 1 22086456 missense variant A/G snv 0.700 1.000 30 1993 2015
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.925 1 22086456 missense variant A/G snv 0.700 1.000 30 1993 2015
TAKENOUCHI-KOSAKI SYNDROME
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
6 0.925 1 22086456 missense variant A/G snv 0.700 0