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: rs1131691041
rs1131691041
3 17 7676271 frameshift variant -/A delins 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: rs2824215
rs2824215
1 21 17063088 intergenic variant A/C snv 0.34 0.010 1.000 1 2019 2019
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: rs281864719
rs281864719
ALK
14 0.763 0.240 2 29220831 missense variant A/C;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1024708183
rs1024708183
4 0.925 0.040 19 7909761 missense variant A/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: 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: rs3087468
rs3087468
3 16 2040233 missense variant C/A snv 0.010 1.000 1 2013 2013
dbSNP: rs927698341
rs927698341
10 0.776 0.240 8 92005280 synonymous variant C/A snv 4.0E-06 2.8E-05 0.010 < 0.001 1 2011 2011
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: rs759412116
rs759412116
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.020 1.000 2 2004 2012
dbSNP: rs25489
rs25489
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs1372047743
rs1372047743
3 8 47960120 missense variant C/T snv 9.7E-06 0.010 1.000 1 2015 2015
dbSNP: rs61748181
rs61748181
10 0.827 0.120 5 1294051 missense variant C/T snv 2.2E-02 2.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2012 2012
dbSNP: rs1486253194
rs1486253194
XPC
1 3 14146063 frameshift variant CCAGTATCCTGGCC/- del 7.0E-06 0.010 1.000 1 2004 2004
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: 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: 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: rs9344
rs9344
34 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 0.010 1.000 1 2018 2018
dbSNP: rs773629528
rs773629528
XPC ; LSM3
1 3 14178554 synonymous variant G/A;C snv 1.2E-05 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs774690269
rs774690269
XPC ; LSM3
1 3 14178562 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.040 1.000 4 2011 2015
dbSNP: rs371769427
rs371769427
24 0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2017 2017