Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1042615
rs1042615
2 1.000 0.040 12 63150429 missense variant A/C;G;T snv 0.60; 1.2E-05 0.010 1.000 1 2009 2009