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: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2006 2006
dbSNP: rs751837
rs751837
CDC42BPB
4 0.882 0.120 14 103018488 intron variant T/C snv 0.23 0.700 1.000 1 2011 2011
dbSNP: rs1312391542
rs1312391542
PRDM1 ; ATG5
2 0.925 0.120 6 106104897 missense variant G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs3218674
rs3218674
ATM
2 1.000 0.120 11 108244860 synonymous variant C/G;T snv 1.1E-02 1.1E-02 0.010 1.000 1 2002 2002
dbSNP: rs12711521
rs12711521
MASP2 ; TARDBP
7 0.807 0.240 1 11030859 missense variant C/A snv 0.74 0.63 0.010 1.000 1 2013 2013
dbSNP: rs7765004
rs7765004 		2 0.925 0.120 6 113750518 regulatory region variant A/C snv 0.32 0.700 1.000 1 2015 2015
dbSNP: rs1057519695
rs1057519695
NRAS
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 1997 1997
dbSNP: rs121913255
rs121913255
NRAS
26 0.667 0.400 1 114713907 missense variant T/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs1057519834
rs1057519834
NRAS
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 1997 1997
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.010 1.000 1 1997 1997
dbSNP: rs121913254
rs121913254
NRAS
31 0.658 0.440 1 114713909 stop gained G/A;C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs121913237
rs121913237
NRAS
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs121913250
rs121913250
NRAS
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.010 1.000 1 1997 1997
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2013 2013
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2014 2014
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 2013 2013
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2014 2014
dbSNP: rs1880030
rs1880030
BCL7A
2 0.925 0.120 12 122046634 intron variant G/A snv 0.39 0.010 1.000 1 2009 2009
dbSNP: rs9831894
rs9831894
CD86
3 0.882 0.120 3 122081640 intron variant A/C snv 0.31 0.010 1.000 1 2020 2020
dbSNP: rs2681416
rs2681416
CD86
2 0.925 0.120 3 122098766 intron variant G/A snv 0.26 0.700 1.000 1 2014 2014
dbSNP: rs7712513
rs7712513
LOC101927357
2 0.925 0.120 5 122582513 intergenic variant G/T snv 0.71 0.700 1.000 1 2015 2015
dbSNP: rs907715
rs907715
IL21
11 0.752 0.520 4 122613898 intron variant C/T snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs1239470707
rs1239470707
PPARG
2 0.925 0.120 3 12416785 missense variant C/A snv 0.010 1.000 1 2012 2012
dbSNP: rs1444766
rs1444766
KALRN
3 0.882 0.160 3 124206424 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs16978630
rs16978630
TNPO2
2 0.925 0.160 19 12702869 missense variant T/C;G snv 4.1E-02 0.700 1.000 1 2019 2019