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: rs11833579
rs11833579 		6 0.827 0.200 12 666033 upstream gene variant G/A snv 0.25 0.100 0.727 11 2010 2019
dbSNP: rs12425791
rs12425791 		4 0.882 0.120 12 674318 downstream gene variant G/A;C snv 0.890 0.900 10 2009 2016
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.080 1.000 8 2006 2018
dbSNP: rs2107595
rs2107595 		15 0.732 0.280 7 19009765 regulatory region variant G/A snv 0.19 0.850 1.000 7 2012 2019
dbSNP: rs1799963
rs1799963
F2
25 0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03 0.810 1.000 6 2001 2016
dbSNP: rs10507391
rs10507391
ALOX5AP
10 0.776 0.320 13 30737959 intron variant A/T snv 0.52 0.040 1.000 4 2011 2016
dbSNP: rs10757278
rs10757278
CDKN2B-AS1
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.040 0.750 4 2009 2012
dbSNP: rs1333049
rs1333049
CDKN2B-AS1
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.720 1.000 4 2009 2016
dbSNP: rs2200733
rs2200733 		12 0.752 0.240 4 110789013 intergenic variant C/T snv 0.18 0.820 1.000 4 2008 2013
dbSNP: rs11196288
rs11196288 		2 1.000 0.080 10 113297684 regulatory region variant A/G snv 5.5E-02 0.030 0.667 3 2016 2019
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 1.000 3 2011 2019
dbSNP: rs11984041
rs11984041
HDAC9
3 0.925 0.080 7 18992312 intron variant C/T snv 0.13 0.830 1.000 3 2012 2015
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.030 1.000 3 2011 2015
dbSNP: rs2383207
rs2383207
CDKN2B-AS1
22 0.695 0.280 9 22115960 intron variant A/G snv 0.64 0.030 1.000 3 2009 2018
dbSNP: rs556621
rs556621 		2 1.000 6 44626422 intergenic variant T/G snv 0.73 0.820 1.000 3 2012 2017
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.030 1.000 3 2011 2014
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.030 1.000 3 2011 2019
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.030 1.000 3 1999 2016
dbSNP: rs1122608
rs1122608
SMARCA4
16 0.763 0.120 19 11052925 intron variant G/T snv 0.18 0.710 1.000 2 2014 2014
dbSNP: rs11237379
rs11237379
NDUFC2 ; NDUFC2-KCTD14
2 1.000 0.080 11 78074911 intron variant T/C snv 0.38 0.020 1.000 2 2016 2019
dbSNP: rs12204590
rs12204590
LINC01394 ; LOC112267978
3 1.000 0.080 6 1337158 intergenic variant T/A snv 0.14 0.720 1.000 2 2016 2017
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.020 < 0.001 2 2016 2019
dbSNP: rs1333040
rs1333040
CDKN2B-AS1
15 0.732 0.280 9 22083405 intron variant C/G;T snv 0.020 0.500 2 2012 2013
dbSNP: rs16851055
rs16851055
SPSB4
1 3 141080371 non coding transcript exon variant G/A snv 0.26 0.800 1.000 2 2012 2014
dbSNP: rs17782313
rs17782313 		34 0.683 0.480 18 60183864 intergenic variant T/C snv 0.24 0.020 1.000 2 2011 2016