rs137853267, 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.
Aarskog syndrome
CUI: C0175701
Disease: Aarskog syndrome
24 0.925 0.200 X 54465797 missense variant T/C snv 0.700 0
Polymicrogyria
CUI: C0266464
Disease: Polymicrogyria
29 0.925 0.200 X 54465797 missense variant T/C snv 0.010 1 2007 2007