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: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2007 2007
dbSNP: rs769255883
rs769255883
XPA
2 1.000 0.160 9 97689592 stop gained C/A;G;T snv 1.2E-05; 5.6E-05 0.010 1.000 1 2012 2012