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: rs1057517688
rs1057517688
1 1.000 1 39965333 missense variant C/T snv 4.0E-06 0.800 0
dbSNP: rs1057517689
rs1057517689
1 1.000 1 39965490 missense variant C/T snv 4.0E-06 7.0E-06 0.800 0
dbSNP: rs1057519087
rs1057519087
4 0.925 0.120 1 39967632 missense variant C/T snv 7.0E-06 0.800 0
dbSNP: rs571640983
rs571640983
4 0.925 1 39967913 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.700 0