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: rs1024708183
rs1024708183
4 0.925 0.040 19 7909761 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2010 2012
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2012 2012
dbSNP: rs1057519695
rs1057519695
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2018 2018
dbSNP: rs1057519834
rs1057519834
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 2018 2018
dbSNP: rs1057520007
rs1057520007
21 0.701 0.440 17 7674917 missense variant T/A;C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2010 2012
dbSNP: rs1131691041
rs1131691041
3 17 7676271 frameshift variant -/A delins 0.010 1.000 1 2017 2017
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs11554290
rs11554290
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2012 2012
dbSNP: rs121965059
rs121965059
OAT
4 0.925 0.080 10 124403892 missense variant G/A snv 1.6E-05 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.030 1.000 3 2004 2012
dbSNP: rs1372047743
rs1372047743
3 8 47960120 missense variant C/T snv 9.7E-06 0.010 1.000 1 2015 2015
dbSNP: rs1383997
rs1383997
1 8 72005483 intron variant T/C snv 0.58 0.010 1.000 1 2019 2019
dbSNP: rs1395746092
rs1395746092
1 19 43575449 missense variant T/C snv 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1431381385
rs1431381385
XPC
1 3 14167204 missense variant G/A snv 4.1E-06 1.4E-05 0.010 1.000 1 2004 2004
dbSNP: rs1470755915
rs1470755915
10 0.776 0.240 8 92005229 missense variant C/A snv 7.0E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs1486253194
rs1486253194
XPC
1 3 14146063 frameshift variant CCAGTATCCTGGCC/- del 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs150547487
rs150547487
1 16 3597425 missense variant T/C snv 9.9E-04 4.1E-03 0.010 1.000 1 2015 2015
dbSNP: rs17655
rs17655
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2004 2004
dbSNP: rs1800566
rs1800566
59 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 0.010 1.000 1 2008 2008
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.020 1.000 2 2004 2012
dbSNP: rs2232365
rs2232365
16 0.716 0.480 X 49259429 intron variant T/C snv 0.010 1.000 1 2018 2018