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: rs1057520041
rs1057520041
1 1.000 0.160 19 1220438 missense variant T/A snv 0.710 1.000 1 2003 2003
dbSNP: rs1085307466
rs1085307466
3 1.000 0.160 19 1221990 stop gained C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs1555737814
rs1555737814
1 1.000 0.160 19 1219389 frameshift variant GT/- del 0.700 1.000 1 2017 2017
dbSNP: rs1555738683
rs1555738683
1 1.000 0.160 19 1221299 frameshift variant T/AC delins 0.700 1.000 1 2006 2006
dbSNP: rs587776661
rs587776661
1 1.000 0.160 19 1221976 frameshift variant G/- delins 0.710 1.000 1 2019 2019
dbSNP: rs587782424
rs587782424
2 1.000 0.160 19 1219346 frameshift variant TG/- delins 0.700 1.000 1 2010 2010
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