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: rs746617574
rs746617574
XPA
1 1.000 0.160 9 97687096 missense variant C/G snv 1.2E-05 2.1E-05 0.800 1.000 6 1992 2015
dbSNP: rs750218942
rs750218942
XPA
1 1.000 0.160 9 97687262 splice acceptor variant C/G snv 1.2E-05 0.700 1.000 6 1990 2017
dbSNP: rs104894131
rs104894131
XPA
1 1.000 0.160 9 97689600 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 5 1992 1999
dbSNP: rs144725456
rs144725456
XPA
1 1.000 0.160 9 97675530 missense variant T/C snv 1.3E-04 7.7E-05 0.700 1.000 5 1992 1999
dbSNP: rs104894132
rs104894132
XPA
2 0.925 0.160 9 97675579 stop gained G/A snv 3.0E-04 3.2E-04 0.700 1.000 4 1992 2010
dbSNP: rs149226993
rs149226993
XPA
2 0.925 0.160 9 97684965 stop gained G/A snv 4.0E-06 0.700 1.000 4 1992 2017
dbSNP: rs104894133
rs104894133
XPA
2 1.000 0.160 9 97684977 stop gained G/A snv 2.4E-05 0.700 1.000 3 1998 2017
dbSNP: rs1200172747
rs1200172747
XPA
2 0.925 0.160 9 97689570 frameshift variant TAAGA/- delins 4.0E-06 2.1E-05 0.700 1.000 2 2009 2015
dbSNP: rs1554701103
rs1554701103
XPA
2 0.925 0.160 9 97684929 frameshift variant -/T delins 0.700 1.000 2 1995 1998
dbSNP: rs769255883
rs769255883
XPA
2 1.000 0.160 9 97689592 stop gained C/A;G;T snv 1.2E-05; 5.6E-05 0.700 1.000 2 2012 2017
dbSNP: rs1554701532
rs1554701532
XPA
1 1.000 0.160 9 97687200 stop gained T/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1554701540
rs1554701540
XPA
1 1.000 0.160 9 97687222 frameshift variant CT/- delins 0.700 1.000 1 2015 2015
dbSNP: rs752573039
rs752573039
XPA
1 1.000 0.160 9 97675486 frameshift variant -/A delins 2.0E-05 2.1E-05 0.700 1.000 1 2010 2010
dbSNP: rs778543124
rs778543124
XPA
35 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 1.000 1 2010 2010
dbSNP: rs886039226
rs886039226
XPA
1 1.000 0.160 9 97689585 stop gained ATAA/TTTCTTATG delins 0.700 1.000 1 2015 2015
dbSNP: rs1019535182
rs1019535182
XPA
1 1.000 0.160 9 97684921 splice donor variant A/G snv 0.700 0
dbSNP: rs104894134
rs104894134
XPA
1 1.000 0.160 9 97689575 stop gained A/G;T snv 4.0E-06 0.700 0
dbSNP: rs1057519018
rs1057519018
XPA
1 1.000 0.160 9 97684947 frameshift variant CT/- delins 4.0E-06 0.700 0
dbSNP: rs1240801740
rs1240801740
XPA
1 1.000 0.160 9 97687191 stop gained CA/- delins 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1253496792
rs1253496792
XPA
1 1.000 0.160 9 97697291 start lost A/G snv 0.700 0
dbSNP: rs1326841833
rs1326841833
XPA
1 1.000 0.160 9 97687118 frameshift variant -/T delins 4.0E-06 0.700 0
dbSNP: rs1554699296
rs1554699296
XPA
1 1.000 0.160 9 97675528 frameshift variant -/A delins 0.700 0
dbSNP: rs1554699334
rs1554699334
XPA
1 1.000 0.160 9 97675584 stop gained A/T snv 0.700 0
dbSNP: rs1554701129
rs1554701129
XPA
1 1.000 0.160 9 97684964 frameshift variant -/G delins 0.700 0
dbSNP: rs1554701139
rs1554701139
XPA
1 1.000 0.160 9 97684994 frameshift variant CT/- delins 0.700 0