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: rs140506267
rs140506267
2 0.925 0.040 9 894044 missense variant A/G snv 2.7E-03 1.3E-03 0.010 1.000 1 2020 2020
dbSNP: rs140756663
rs140756663
2 0.925 0.040 6 116278733 missense variant G/T snv 3.6E-03 2.7E-03 0.010 1.000 1 2012 2012
dbSNP: rs144848
rs144848
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2006 2006
dbSNP: rs150771661
rs150771661
1 1.000 0.040 11 125911413 missense variant G/A snv 1.7E-04 9.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs17420802
rs17420802
2 0.925 0.040 7 5977709 missense variant T/A;C snv 2.5E-04 0.010 1.000 1 2012 2012
dbSNP: rs175080
rs175080
9 0.776 0.240 14 75047125 missense variant G/A snv 0.40 0.43 0.010 1.000 1 2010 2010
dbSNP: rs1799782
rs1799782
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 < 0.001 1 2007 2007
dbSNP: rs1799793
rs1799793
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2008 2008
dbSNP: rs1800447
rs1800447
LHB
4 0.851 0.200 19 49016648 missense variant A/G snv 6.5E-02 7.6E-02 0.010 < 0.001 1 2003 2003
dbSNP: rs1800477
rs1800477
12 0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03 0.010 1.000 1 2010 2010
dbSNP: rs1801394
rs1801394
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2015 2015
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2015 2015
dbSNP: rs188541504
rs188541504
3 0.925 0.040 19 374362 missense variant C/T snv 8.0E-05 4.9E-05 0.010 1.000 1 2012 2012
dbSNP: rs201438485
rs201438485
2 0.925 0.160 6 116278872 missense variant T/C snv 2.0E-05 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs2070565
rs2070565
3 0.925 0.080 21 44261270 splice region variant T/C snv 0.70 0.75 0.010 1.000 1 2012 2012
dbSNP: rs2070744
rs2070744
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2018 2018
dbSNP: rs2207396
rs2207396
2 0.925 0.120 6 152061247 intron variant G/A snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2009 2009
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2009 2009
dbSNP: rs222859
rs222859
1 1.000 0.040 17 7294475 missense variant C/A snv 0.72 0.80 0.010 1.000 1 2016 2016
dbSNP: rs2228611
rs2228611
19 0.708 0.520 19 10156401 synonymous variant T/A;C snv 0.52 0.010 1.000 1 2014 2014
dbSNP: rs2288846
rs2288846
2 1.000 0.040 19 6042048 missense variant C/T snv 0.25 0.22 0.010 1.000 1 2018 2018
dbSNP: rs26279
rs26279
9 0.790 0.160 5 80873118 missense variant G/A snv 0.73 0.70 0.010 1.000 1 2019 2019
dbSNP: rs34075659
rs34075659
1 1.000 0.040 14 24172747 missense variant C/G;T snv 2.4E-05; 3.0E-03 0.010 1.000 1 2020 2020
dbSNP: rs34349826
rs34349826
LHB
4 0.851 0.200 19 49016626 missense variant A/G snv 4.9E-02 7.5E-02 0.010 < 0.001 1 2003 2003