Source: ALL
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: rs1209143268
rs1209143268
1.000 0.040 2 43877840 missense variant T/G snv 8.0E-06
CUI: C0302314
Disease: Xanthoma
Xanthoma
Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014