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: rs1057518830
rs1057518830
2 1.000 0.040 19 1221331 inframe deletion CTG/- delins 0.700 0
dbSNP: rs121908381
rs121908381
3 0.925 0.120 1 45331220 stop gained C/A snv 5.2E-05 7.0E-06 0.700 0
dbSNP: rs1555738475
rs1555738475
12 0.776 0.400 19 1220707 frameshift variant G/- delins 0.700 0