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: rs1057518839
rs1057518839
MPZ
4 1.000 1 161305924 missense variant A/C snv 0.700 0
dbSNP: rs119482082
rs119482082
2 0.925 0.080 9 92080044 missense variant A/C snv 0.700 0
dbSNP: rs121909093
rs121909093
2 0.925 0.080 19 10812315 missense variant G/A;T snv 0.700 0
dbSNP: rs137852973
rs137852973
13 0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 0.700 0
dbSNP: rs142433332
rs142433332
14 0.807 0.160 1 173831632 splice donor variant T/A;C;G snv 8.0E-06; 3.3E-04; 4.0E-06 0.700 0
dbSNP: rs1553201258
rs1553201258
14 0.807 0.160 1 173828312 non coding transcript exon variant TT/C delins 0.700 0
dbSNP: rs1564045331
rs1564045331
XPA
35 0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 0.700 0
dbSNP: rs267607261
rs267607261
28 0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 0.700 0
dbSNP: rs368900406
rs368900406
27 0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs398123631
rs398123631
2 0.925 0.120 21 45990827 splice donor variant G/A snv 0.700 0
dbSNP: rs587784347
rs587784347
38 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs61755320
rs61755320
41 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 0
dbSNP: rs778543124
rs778543124
XPA
35 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
dbSNP: rs80338933
rs80338933
9 0.807 0.080 5 149026872 stop gained G/A snv 7.5E-04; 4.0E-06 6.6E-04 0.700 0
dbSNP: rs80338937
rs80338937
4 0.925 0.080 5 149006955 stop gained G/A snv 0.700 0
dbSNP: rs1555631390
rs1555631390
TTR
4 0.851 0.160 18 31595128 inframe insertion -/AGTCTG delins 0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157
16 0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 0.700 1.000 1 2018 2018
dbSNP: rs140992482
rs140992482
1 1.000 2 27313058 missense variant C/T snv 2.4E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs151103940
rs151103940
3 0.882 0.160 3 193614929 missense variant A/G snv 4.0E-04 1.1E-03 0.010 1.000 1 2011 2011
dbSNP: rs58982919
rs58982919
10 0.790 0.080 8 24956223 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs61734216
rs61734216
MAL
1 1.000 2 95053409 missense variant A/G snv 0.010 1.000 1 2019 2019