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: rs1057517675
rs1057517675
1 1.000 2 3549068 missense variant G/A snv 0.700 0
dbSNP: rs373442996
rs373442996
1 1.000 2 3550413 stop gained G/A snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs766294940
rs766294940
1 1.000 2 3550458 missense variant C/T snv 4.4E-05 7.0E-06 0.700 0