Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121434499
rs121434499
MAP2K2
0.925 0.160 19 4110559 missense variant A/G snv
CUI: C3809007
Disease: CARDIOFACIOCUTANEOUS SYNDROME 4
CARDIOFACIOCUTANEOUS SYNDROME 4 		0.800 1.000 0 2006 2010
dbSNP: rs121434499
rs121434499
MAP2K2
0.925 0.160 19 4110559 missense variant A/G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 1 2008 2008