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: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2014 2014
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2019 2019
dbSNP: rs33986393
rs33986393 		1 1.000 0.040 6 30456297 downstream gene variant A/G snv 0.16 0.700 1.000 1 2010 2010
dbSNP: rs35407515
rs35407515 		1 1.000 0.040 6 30455446 non coding transcript exon variant A/G snv 0.17 0.700 1.000 1 2010 2010
dbSNP: rs4807000
rs4807000
TICAM1
2 1.000 0.040 19 4831866 upstream gene variant A/G snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2013 2013
dbSNP: rs523604
rs523604
CXCR5
3 0.882 0.120 11 118885029 intron variant A/G snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs5742905
rs5742905
CBS
22 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs6012953
rs6012953 		1 1.000 0.040 20 50506506 upstream gene variant A/G snv 0.52 0.700 1.000 1 2016 2016
dbSNP: rs6059655
rs6059655
RALY
10 0.790 0.080 20 34077942 intron variant A/G snv 0.95 0.700 1.000 1 2016 2016
dbSNP: rs7188793
rs7188793
CBFA2T3
1 1.000 0.040 16 88976453 intron variant A/G snv 0.69 0.700 1.000 1 2016 2016
dbSNP: rs78037977
rs78037977 		2 0.925 0.120 1 172746562 upstream gene variant A/G snv 7.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs78521699
rs78521699 		1 1.000 0.040 6 2908357 downstream gene variant A/G snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs9261871
rs9261871
MICC
1 1.000 0.040 6 30418117 intron variant A/G snv 0.17 0.700 1.000 1 2010 2010
dbSNP: rs9295873
rs9295873 		1 1.000 0.040 6 30446458 upstream gene variant A/G snv 0.17 0.700 1.000 1 2010 2010
dbSNP: rs9501447
rs9501447 		1 1.000 0.040 6 30430063 intergenic variant A/G snv 0.17 0.700 1.000 1 2010 2010
dbSNP: rs9926296
rs9926296
FANCA
1 1.000 0.040 16 89751681 intron variant A/G snv 0.54 0.800 1.000 1 2012 2012
dbSNP: rs1043101
rs1043101
SLC1A2
1 1.000 0.040 11 35253282 3 prime UTR variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs13118
rs13118
NEU1
1 1.000 0.040 6 31859509 3 prime UTR variant A/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs1534284
rs1534284
PFDN5 ; C12orf10 ; LOC112268097
2 0.925 0.040 12 53299748 missense variant A/G;T snv 0.99; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs2294020
rs2294020
CCDC22
10 0.763 0.280 X 49246763 missense variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs301807
rs301807
RERE ; RERE-AS1
4 0.925 0.080 1 8424763 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs301819
rs301819
RERE
4 0.882 0.120 1 8441726 intron variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2013 2013