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: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 2 2005 2007
dbSNP: rs1263178238
rs1263178238
VSIG10L
2 0.925 0.080 19 51338047 missense variant T/C snv 2.6E-05 4.9E-05 0.010 1.000 1 2016 2016
dbSNP: rs9918259
rs9918259
TPPP ; CEP72
2 0.925 0.080 5 662977 3 prime UTR variant C/T snv 2.1E-03 0.700 1.000 1 2016 2016
dbSNP: rs75783973
rs75783973
TPPP
1 1.000 0.080 5 668194 intron variant G/A snv 2.9E-04 0.700 1.000 1 2016 2016
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 0.667 3 2010 2013
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 0.667 3 2010 2013
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.030 0.667 3 2010 2013
dbSNP: rs28934578
rs28934578
TP53
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs11775256
rs11775256
TNFRSF10A
1 1.000 0.080 8 23193972 intron variant C/T snv 0.21 0.010 1.000 1 2011 2011
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 < 0.001 1 2016 2016
dbSNP: rs7852462
rs7852462
TMOD1
2 0.925 0.080 9 97548219 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2294008
rs2294008
PSCA ; JRK
28 0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45 0.010 1.000 1 2014 2014
dbSNP: rs17708574
rs17708574
PDGFRB
1 1.000 0.080 5 150141675 intron variant G/A snv 8.2E-02 0.010 1.000 1 2012 2012
dbSNP: rs9257809
rs9257809
OR5V1 ; OR12D3
10 0.790 0.320 6 29388554 intron variant A/G snv 5.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs2070744
rs2070744
NOS3
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2011 2011
dbSNP: rs2297518
rs2297518
NOS2
30 0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17 0.010 1.000 1 2008 2008
dbSNP: rs3219472
rs3219472
MUTYH ; TOE1
3 0.882 0.160 1 45338378 5 prime UTR variant C/T snv 0.26 0.010 1.000 1 2013 2013
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 2008 2008
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2012 2012
dbSNP: rs17749155
rs17749155
MSRA
2 0.925 0.080 8 10210563 intron variant G/A snv 0.16 0.700 1.000 1 2016 2016
dbSNP: rs2236302
rs2236302
MMP14
1 1.000 0.080 14 22843345 synonymous variant C/A;G snv 8.0E-06; 0.12 0.010 1.000 1 2011 2011
dbSNP: rs7141987
rs7141987
MEG8 ; MIR323A ; MIR329-1 ; MIR329-2 ; MIR758 ; MIR1197
2 0.925 0.080 14 101025887 intron variant T/C snv 0.58 0.700 1.000 1 2018 2018
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.020 0.500 2 2010 2013
dbSNP: rs7632500
rs7632500
LOC107986152
5 0.925 0.080 3 168007561 downstream gene variant A/G snv 0.17 0.700 1.000 1 2013 2013