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: rs1416572796
rs1416572796
ALPL
4 0.851 0.120 1 21568170 missense variant G/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs143358506
rs143358506
ALPL
4 0.851 0.120 1 21560674 missense variant T/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1553260624
rs1553260624
H3-3A
14 0.763 0.080 1 226064454 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2014 2014
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs1800449
rs1800449
LOX
33 0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17 0.010 1.000 1 2012 2012
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
18 0.742 0.320 MT 8993 missense variant T/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs201821879
rs201821879
MDM2
3 0.882 0.040 12 68809237 missense variant C/T snv 1.6E-04 1.9E-04 0.010 1.000 1 2013 2013
dbSNP: rs2230392
rs2230392
ITGA3
4 0.882 0.040 17 50078061 missense variant G/A snv 0.14 9.0E-02 0.010 1.000 1 2014 2014
dbSNP: rs235768
rs235768
BMP2
8 0.807 0.160 20 6778468 missense variant A/G;T snv 0.67 0.010 1.000 1 2015 2015
dbSNP: rs2372536
rs2372536
ATIC
5 0.827 0.160 2 215325297 missense variant C/G snv 0.33 0.25 0.010 < 0.001 1 2017 2017
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs28934578
rs28934578
TP53
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.710 1.000 1 2005 2005
dbSNP: rs367597251
rs367597251
MDM2
10 0.807 0.080 12 68839587 missense variant A/G snv 1.5E-04 5.1E-04 0.010 1.000 1 2019 2019
dbSNP: rs368087026
rs368087026
SLC19A1
33 0.637 0.520 21 45530890 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs368933511
rs368933511
SQSTM1 ; MRNIP
5 0.851 0.080 5 179836485 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs3745406
rs3745406
PRKCG
6 0.851 0.080 19 53891711 missense variant T/A;C snv 4.0E-06; 0.41 0.010 1.000 1 2015 2015
dbSNP: rs4072111
rs4072111
IL16
16 0.716 0.400 15 81285798 missense variant C/T snv 0.17 0.11 0.010 < 0.001 1 2016 2016
dbSNP: rs5370
rs5370
EDN1
37 0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21 0.010 1.000 1 2014 2014
dbSNP: rs55933544
rs55933544
GLDC
1 1.000 0.040 9 6534080 missense variant C/T snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs56149945
rs56149945
NR3C1
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.010 1.000 1 2007 2007
dbSNP: rs56307747
rs56307747
ELN ; ELN-AS1
8 0.776 0.160 7 74059952 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs59267781
rs59267781
LMNA
4 0.851 0.120 1 156138657 missense variant C/G snv 0.010 1.000 1 2007 2007
dbSNP: rs747126003
rs747126003
IL6 ; IL6-AS1
18 0.689 0.400 7 22728790 missense variant A/G;T snv 4.0E-06 0.010 < 0.001 1 2017 2017
dbSNP: rs747342068
rs747342068
TP53
21 0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2008 2008