rs397516793, MAP2K1

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 15 66436842 missense variant T/C snv 0.700 1.000 12 2002 2017
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
82 0.925 0.160 15 66436842 missense variant T/C snv 0.700 1.000 6 2006 2018