Source: ALL
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: rs104894866
rs104894866
MID1
1 1.000 0.200 X 10482609 missense variant A/G snv 0.800 1.000 4 1997 2005
dbSNP: rs28934611
rs28934611
MID1
1 1.000 0.200 X 10449495 missense variant A/G snv 0.800 1.000 4 1997 2005
dbSNP: rs104894865
rs104894865
MID1
1 1.000 0.200 X 10567205 stop gained C/A;G;T snv 5.5E-06; 5.5E-06 0.700 0
dbSNP: rs1555894390
rs1555894390
MID1
1 1.000 0.200 X 10482571 frameshift variant G/- del 0.700 0
dbSNP: rs1555895704
rs1555895704
MID1
1 1.000 0.200 X 10495619 stop gained G/A snv 0.700 0
dbSNP: rs1555895725
rs1555895725
MID1
1 1.000 0.200 X 10495692 splice acceptor variant C/G snv 0.700 0
dbSNP: rs1556001856
rs1556001856
MID1
1 1.000 0.200 X 10449491 stop gained G/T snv 0.700 0
dbSNP: rs1556001968
rs1556001968
MID1
1 1.000 0.200 X 10449647 stop gained C/T snv 0.700 0
dbSNP: rs1556003095
rs1556003095
MID1
1 1.000 0.200 X 10454913 stop gained -/CAAT delins 0.700 0
dbSNP: rs1556003200
rs1556003200
MID1
1 1.000 0.200 X 10455071 frameshift variant G/- delins 0.700 0
dbSNP: rs1556004366
rs1556004366
MID1
1 1.000 0.200 X 10459700 missense variant C/G snv 0.700 0
dbSNP: rs1556004400
rs1556004400
MID1
1 1.000 0.200 X 10459732 missense variant T/C snv 0.700 0
dbSNP: rs1569265497
rs1569265497
MID1
1 1.000 0.200 X 10449455 frameshift variant G/- delins 0.700 0
dbSNP: rs1569268013
rs1569268013
MID1
1 1.000 0.200 X 10454966 frameshift variant -/C delins 0.700 0
dbSNP: rs1569268029
rs1569268029
MID1
1 1.000 0.200 X 10454978 frameshift variant CT/- delins 0.700 0
dbSNP: rs1569270035
rs1569270035
MID1
1 1.000 0.200 X 10459777 inframe deletion ATC/- delins 0.700 0
dbSNP: rs387906719
rs387906719
MID1
1 1.000 0.200 X 10523136 stop gained C/A snv 0.700 0
dbSNP: rs398123341
rs398123341
MID1
1 1.000 0.200 X 10449709 missense variant T/C;G snv 5.6E-06; 1.7E-05 0.700 0
dbSNP: rs398123342
rs398123342
MID1
1 1.000 0.200 X 10449573 frameshift variant -/G delins 0.700 0
dbSNP: rs745554420
rs745554420
MID1
1 1.000 0.200 X 10455042 stop gained G/A snv 5.5E-06 0.700 0
dbSNP: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2017 2017
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 < 0.001 1 2017 2017
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2017 2017
dbSNP: rs324148
rs324148
SLC29A1
3 0.882 0.280 6 44228841 intron variant T/C snv 0.78 0.010 1.000 1 2014 2014