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: rs121909053
rs121909053
3 0.882 0.120 3 167825265 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1349041080
rs1349041080
1 1.000 0.080 7 101137084 splice donor variant G/- delins 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1435953393
rs1435953393
1 1.000 0.080 7 101137405 missense variant G/A snv 1.6E-05 1.4E-05 0.010 1.000 1 2017 2017