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: rs1057519894
rs1057519894
EZH2
0.925 0.160 7 148811650 missense variant T/A;G snv
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		0.700 1.000 1 2016 2016
dbSNP: rs1057519894
rs1057519894
EZH2
0.925 0.160 7 148811650 missense variant T/A;G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016