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: rs13181
rs13181
82 0.525 0.536 19 45351661 stop gained T/A,G snp 4.0E-06; 0.32 0.32 0.020 1.000 2 2004 2009
dbSNP: rs25487
rs25487
119 0.485 0.679 19 43551574 missense variant T/C snp 0.68 0.72 0.020 1.000 2 2004 2009
dbSNP: rs77375493
rs77375493
106 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.020 1.000 2 2013 2015
dbSNP: rs113488022
rs113488022
267 0.407 0.786 7 140753336 missense variant snp 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs11540654
rs11540654
117 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs150547487
rs150547487
1 16 3597425 missense variant T/C snp 9.9E-04 3.8E-03 0.010 1.000 1 2016 2016
dbSNP: rs17655
rs17655
39 0.611 0.500 13 102875652 missense variant G/C snp 0.28 0.30 0.010 1.000 1 2004 2004
dbSNP: rs2228001
rs2228001
XPC
29 0.634 0.357 3 14145949 missense variant G/T snp 0.63 0.66 0.010 1.000 1 2004 2004
dbSNP: rs281864719
rs281864719
ALK
10 0.846 0.143 2 29220831 missense variant A/C,G,T snp 0.010 1.000 1 2012 2012
dbSNP: rs3745274
rs3745274
16 0.744 0.393 19 41006936 missense variant G/A,T snp 4.0E-06; 0.27 0.26 0.010 < 0.001 1 2011 2011
dbSNP: rs587782746
rs587782746
NBN
15 0.724 0.250 8 89970506 missense variant T/C snp 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs61748181
rs61748181
5 0.923 0.071 5 1294051 missense variant C/T snp 2.2E-02 2.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs61754966
rs61754966
NBN
16 0.715 0.250 8 89978293 missense variant T/C,G snp 1.2E-03 3.9E-03 0.010 1.000 1 2014 2014
dbSNP: rs773629528
rs773629528
XPC ; LSM3
1 3 14178554 missense variant G/A snp 1.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs774690269
rs774690269
XPC ; LSM3
1 3 14178562 missense variant G/A,C snp 1.2E-05 3.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs863225281
rs863225281
ALK
9 0.821 0.143 2 29220829 missense variant G/C,T snp 0.010 1.000 1 2012 2012