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: rs104893896
rs104893896
1 1.000 0.120 5 174729294 missense variant G/A snv 4.0E-06 7.0E-06 0.800 1.000 2 2000 2000
dbSNP: rs121912971
rs121912971
1 1.000 0.120 5 174724924 stop gained GC/TA mnv 0.700 0
dbSNP: rs121912972
rs121912972
1 1.000 0.120 5 174725003 frameshift variant G/- delins 0.700 0
dbSNP: rs1561643060
rs1561643060
1 1.000 0.120 5 174729324 frameshift variant AGACCCAG/- delins 0.700 0