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: rs267598140
rs267598140
DDR2
3 0.925 0.080 1 162778600 missense variant T/A;G snv 0.700 1.000 3 2008 2013
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 1.000 3 2007 2018
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 2007 2016
dbSNP: rs1047325
rs1047325
S100A2
2 1.000 0.040 1 153561551 missense variant C/T snv 7.1E-02 0.16 0.010 1.000 1 2009 2009
dbSNP: rs1047840
rs1047840
EXO1
19 0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 0.010 1.000 1 2015 2015
dbSNP: rs11206510
rs11206510 		16 0.763 0.240 1 55030366 intergenic variant T/A;C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2015 2015
dbSNP: rs115169993
rs115169993
DDR2
1 1.000 0.040 1 162772032 missense variant G/A snv 7.8E-04 2.9E-03 0.010 1.000 1 2013 2013
dbSNP: rs1194611372
rs1194611372
S100A11
9 0.763 0.320 1 152032679 missense variant A/C snv 0.010 1.000 1 2011 2011
dbSNP: rs1256046734
rs1256046734
LEPR
12 0.763 0.280 1 65621409 missense variant A/G snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs144594252
rs144594252
DDR2
3 0.882 0.080 1 162754625 missense variant C/G snv 6.8E-05 5.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs1454328441
rs1454328441
MUC1
6 0.827 0.200 1 155192002 missense variant G/A;T snv 4.6E-06; 9.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs17568
rs17568
TNFRSF4
12 0.752 0.320 1 1212042 synonymous variant C/T snv 0.37 0.31 0.010 1.000 1 2019 2019
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 2006 2006
dbSNP: rs201701502
rs201701502
DDR2
5 0.851 0.080 1 162775837 missense variant C/G;T snv 1.5E-04 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs2273953
rs2273953
TP73
5 0.851 0.120 1 3682336 5 prime UTR variant G/A;T snv 0.20; 3.3E-04 0.010 1.000 1 2016 2016
dbSNP: rs2298211
rs2298211
TNFRSF4
1 1.000 0.040 1 1211863 intron variant A/C snv 8.1E-02 8.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs4645978
rs4645978
CASP9 ; DNAJC16
8 0.827 0.120 1 15525539 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs486907
rs486907
RNASEL
32 0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 0.010 1.000 1 2014 2014
dbSNP: rs532172691
rs532172691
S100A2
1 1.000 0.040 1 153563811 stop gained G/A snv 2.2E-04 3.4E-04 0.010 1.000 1 2009 2009
dbSNP: rs646776
rs646776
CELSR2
25 0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74 0.700 1.000 1 2012 2012
dbSNP: rs765660823
rs765660823
DDR2
4 0.882 0.200 1 162778720 missense variant A/C snv 1.9E-04 0.010 1.000 1 2018 2018
dbSNP: rs1064793981
rs1064793981
MSH2
1 1.000 0.040 2 47475030 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1295445617
rs1295445617
MSH2
1 1.000 0.040 2 47403398 synonymous variant G/A;C;T snv 4.5E-06; 4.5E-06 0.010 1.000 1 2015 2015
dbSNP: rs3087386
rs3087386
REV1
8 0.790 0.160 2 99439044 missense variant A/G snv 0.58 0.61 0.010 1.000 1 2008 2008