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: rs193922642
rs193922642
1 1.000 0.120 5 35873481 missense variant A/C;G snv 4.8E-05 0.700 0
dbSNP: rs74315329
rs74315329
9 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.700 0