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: rs2572925
rs2572925
1 1.000 0.040 8 142786489 missense variant C/G;T snv 0.36 0.700 1.000 1 2012 2012