Source: ALL
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: rs56391007
rs56391007
MET
16 0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03 0.010 1.000 1 2005 2005
dbSNP: rs2070593
rs2070593
GPX3
6 0.827 0.120 5 151028379 3 prime UTR variant G/A;T snv 0.20 0.010 1.000 1 2009 2009
dbSNP: rs3805435
rs3805435
GPX3 ; LOC105378228
3 0.882 0.120 5 151021735 non coding transcript exon variant T/C snv 8.4E-02 0.010 1.000 1 2009 2009
dbSNP: rs3828599
rs3828599
GPX3 ; LOC105378228
5 0.882 0.040 5 151022235 intron variant A/G snv 0.67 0.010 1.000 1 2009 2009
dbSNP: rs8177412
rs8177412
GPX3 ; LOC105378228
5 0.851 0.160 5 151020526 5 prime UTR variant T/C snv 0.15 0.010 1.000 1 2009 2009
dbSNP: rs12885300
rs12885300
DIO2 ; DIO2-AS1
7 0.790 0.200 14 80211923 5 prime UTR variant C/A;G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs3764340
rs3764340
WWOX
9 0.807 0.280 16 78432540 missense variant C/G snv 7.1E-02 7.4E-02 0.010 1.000 1 2011 2011
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.010 < 0.001 1 2011 2011
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2011 2012
dbSNP: rs10741657
rs10741657
CYP2R1
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2012 2012
dbSNP: rs10877012
rs10877012
CYP27B1 ; METTL1
10 0.763 0.280 12 57768302 intron variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs12794714
rs12794714
CYP2R1
15 0.708 0.360 11 14892029 synonymous variant G/A snv 0.41 0.35 0.010 1.000 1 2012 2012
dbSNP: rs1800057
rs1800057
ATM
11 0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs189037
rs189037
ATM ; NPAT
22 0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49 0.010 1.000 1 2012 2012
dbSNP: rs1991517
rs1991517
TSHR ; LOC101928462
13 0.752 0.240 14 81144239 missense variant G/C snv 0.90 0.91 0.010 1.000 1 2012 2012
dbSNP: rs2132572
rs2132572
IGFBP3
3 1.000 7 45921946 upstream gene variant T/C snv 0.79 0.010 1.000 1 2012 2012
dbSNP: rs2248137
rs2248137
CYP24A1
5 0.827 0.160 20 54173204 intron variant C/G snv 0.49 0.010 1.000 1 2012 2012
dbSNP: rs2296241
rs2296241
CYP24A1
12 0.763 0.200 20 54169680 synonymous variant G/A snv 0.49 0.51 0.010 1.000 1 2012 2012
dbSNP: rs4646536
rs4646536
CYP27B1
14 0.724 0.440 12 57764205 intron variant A/G snv 0.38 0.32 0.010 1.000 1 2012 2012
dbSNP: rs927650
rs927650
CYP24A1
9 0.763 0.240 20 54156202 intron variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs1447295
rs1447295
CASC8
29 0.658 0.400 8 127472793 intron variant A/C;T snv 0.020 0.500 2 2011 2013
dbSNP: rs10808556
rs10808556
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
2 0.925 0.080 8 127400902 non coding transcript exon variant C/T snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs2048722
rs2048722
TPO
2 0.925 2 1492028 intron variant A/G snv 0.51 0.010 1.000 1 2013 2013
dbSNP: rs2227869
rs2227869
ERCC5 ; BIVM-ERCC5
9 0.790 0.240 13 102862735 missense variant G/A;C snv 4.3E-02 0.010 1.000 1 2013 2013
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 2013 2013