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: rs1057519810
rs1057519810
MAP2K2
1.000 0.040 19 4117619 missense variant C/A;T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2014 2014