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: rs1060499958
rs1060499958
1 1.000 0.160 19 1219356 missense variant T/C snv 0.700 0
dbSNP: rs1060499960
rs1060499960
1 1.000 0.160 19 1223051 frameshift variant ACCGGTGG/- delins 0.700 0
dbSNP: rs1060499961
rs1060499961
1 1.000 0.160 19 1207041 frameshift variant C/- delins 0.700 0
dbSNP: rs1131690920
rs1131690920
2 1.000 0.160 19 1222007 splice donor variant G/A snv 0.700 0
dbSNP: rs1131690949
rs1131690949
2 1.000 0.160 19 1221320 frameshift variant -/G delins 0.700 0
dbSNP: rs1131690950
rs1131690950
2 1.000 0.160 19 1207204 splice donor variant G/A;C snv 0.700 0
dbSNP: rs121913324
rs121913324
3 1.000 0.160 19 1207022 stop gained C/T snv 0.700 0
dbSNP: rs137853075
rs137853075
1 1.000 0.160 19 1221237 stop gained C/A;T snv 0.700 0
dbSNP: rs137854584
rs137854584
1 1.000 0.160 19 1207082 stop gained G/T snv 0.700 0
dbSNP: rs1555735001
rs1555735001
1 1.000 0.160 19 1207091 frameshift variant -/AC delins 0.700 0
dbSNP: rs1555735008
rs1555735008
1 1.000 0.160 19 1207093 frameshift variant C/- del 0.700 0
dbSNP: rs1555735014
rs1555735014
1 1.000 0.160 19 1207112 frameshift variant C/- del 0.700 0
dbSNP: rs1555737480
rs1555737480
1 1.000 0.160 19 1218502 splice donor variant T/C snv 0.700 0
dbSNP: rs1555738219
rs1555738219
1 1.000 0.160 19 1220431 frameshift variant -/GGACATCA delins 0.700 0
dbSNP: rs1555738475
rs1555738475
12 0.776 0.400 19 1220707 frameshift variant G/- delins 0.700 0
dbSNP: rs1555738656
rs1555738656
1 1.000 0.160 19 1221270 frameshift variant -/GA delins 0.700 0
dbSNP: rs1555738667
rs1555738667
1 1.000 0.160 19 1221294 frameshift variant C/- del 0.700 0
dbSNP: rs1555738723
rs1555738723
1 1.000 0.160 19 1221329 frameshift variant A/- del 0.700 0
dbSNP: rs1555738863
rs1555738863
1 1.000 0.160 19 1221969 frameshift variant CCAAG/- delins 0.700 0
dbSNP: rs1555738874
rs1555738874
1 1.000 0.160 19 1221979 frameshift variant -/TCCATCC delins 0.700 0
dbSNP: rs1555738899
rs1555738899
1 1.000 0.160 19 1222004 frameshift variant CA/TCC delins 0.700 0
dbSNP: rs1568689930
rs1568689930
1 1.000 0.160 19 1206993 frameshift variant -/C delins 0.700 0
dbSNP: rs1568689994
rs1568689994
1 1.000 0.160 19 1207017 frameshift variant CT/- delins 0.700 0
dbSNP: rs1568690161
rs1568690161
1 1.000 0.160 19 1207064 frameshift variant -/T delins 0.700 0
dbSNP: rs397518440
rs397518440
2 1.000 0.160 19 1219367 frameshift variant C/- del 0.700 0