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: rs1208415127
rs1208415127
RASSF1
6 0.827 0.160 3 50331654 missense variant G/A snv 4.0E-06 0.010 1.000 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 0.080 0.875 8 2002 2017
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.700 1.000 1 2016 2016
dbSNP: rs12338
rs12338
CTSB
10 0.807 0.200 8 11853379 missense variant G/A;C;T snv 8.0E-06; 0.38; 2.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs1237063529
rs1237063529
CBS
13 0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 0.010 1.000 1 2016 2016
dbSNP: rs1271546630
rs1271546630
MPO
2 1.000 0.120 17 58277848 missense variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs12917
rs12917
MGMT ; LOC105378560
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.010 < 0.001 1 2010 2010
dbSNP: rs13010627
rs13010627
CASP10
10 0.807 0.280 2 201209375 missense variant G/A snv 4.2E-02 4.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs13140012
rs13140012
MTNR1A ; LOC105377596
6 0.827 0.320 4 186544404 intron variant T/A snv 0.41 0.010 1.000 1 2015 2015
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.030 0.333 3 2007 2013
dbSNP: rs132770
rs132770
XRCC6 ; DESI1
14 0.752 0.320 22 41621260 5 prime UTR variant A/G snv 0.83 0.010 1.000 1 2008 2008
dbSNP: rs132774
rs132774
XRCC6
9 0.776 0.280 22 41635949 intron variant C/G snv 0.69 0.010 1.000 1 2008 2008
dbSNP: rs13332
rs13332
CTSB
6 0.925 0.120 8 11849072 synonymous variant T/C;G snv 3.5E-02; 0.56 0.010 1.000 1 2012 2012
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs135745
rs135745 		13 0.763 0.200 22 38287631 downstream gene variant G/C snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs1373756
rs1373756 		2 1.000 0.120 18 52259936 intergenic variant C/T snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs1380576
rs1380576
MDM4
10 0.763 0.240 1 204519150 intron variant G/C snv 0.57 0.010 1.000 1 2012 2012
dbSNP: rs1406
rs1406
CCNE1
4 0.882 0.120 19 29824205 3 prime UTR variant C/A snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs14133
rs14133
CRYAB ; HSPB2 ; HSPB2-C11orf52
7 0.807 0.200 11 111911973 5 prime UTR variant G/C snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1453414
rs1453414
TRIM5 ; OR52N2
7 0.827 0.080 11 5807854 intron variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1473418
rs1473418
BCL2
2 1.000 0.080 18 63319316 5 prime UTR variant C/G snv 0.98 0.010 1.000 1 2015 2015
dbSNP: rs1533767
rs1533767
WNT11
5 0.851 0.120 11 76194756 splice region variant G/A snv 0.27 0.23 0.010 1.000 1 2019 2019
dbSNP: rs1570360
rs1570360
VEGFA
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2012 2012
dbSNP: rs1635498
rs1635498
EXO1
9 0.807 0.160 1 241881973 missense variant C/A;G;T snv 0.96 0.010 1.000 1 2009 2009