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: rs1057519806
rs1057519806
MAP2K2
0.882 0.200 19 4110583 missense variant T/C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.710 1.000 0 2015 2015
dbSNP: rs1057519806
rs1057519806
MAP2K2
0.882 0.200 19 4110583 missense variant T/C snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2014 2014
dbSNP: rs1057519806
rs1057519806
MAP2K2
0.882 0.200 19 4110583 missense variant T/C snv
CUI: C3809007
Disease: CARDIOFACIOCUTANEOUS SYNDROME 4
CARDIOFACIOCUTANEOUS SYNDROME 4 		0.700 0