rs137853266, FGD1

N. diseases: 2
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 0.160 X 54467796 missense variant C/A;T snv 0.700 1.000 11 1996 2014
Aarskog syndrome
CUI: C0175701
Disease: Aarskog syndrome
24 0.925 0.160 X 54467796 missense variant C/A;T snv 0.700 0