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: rs1057518900
rs1057518900
3 0.925 0.120 2 166284785 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs200972952
rs200972952
1 2 166306951 splice region variant G/A;T snv 8.3E-06; 4.1E-06 0.700 0
dbSNP: rs370717845
rs370717845
33 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0