Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519695
rs1057519695
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv
CUI: C1318558
Disease: Congenital melanocytic nevus
Congenital melanocytic nevus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2016 2017
dbSNP: rs1057519834
rs1057519834
0.658 0.480 1 114713908 missense variant TG/CT mnv
CUI: C1318558
Disease: Congenital melanocytic nevus
Congenital melanocytic nevus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2016 2017
dbSNP: rs11554290
rs11554290
0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C1318558
Disease: Congenital melanocytic nevus
Congenital melanocytic nevus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2016 2017