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: rs17761864
rs17761864
SMG6
2 0.923 0.071 17 2268343 intron variant C/A snp 0.28 0.800 1 2012 2012
dbSNP: rs2239612
rs2239612
ST6GAL1
2 0.923 0.071 3 187075454 intron variant G/A snp 0.17 0.800 1 2012 2012
dbSNP: rs2239815
rs2239815
XBP1
3 0.878 0.071 22 28796682 non coding transcript exon variant T/C snp 0.45 0.800 1 2012 2012
dbSNP: rs2847281
rs2847281
PTPN2
3 0.923 0.071 18 12821594 intron variant A/G snp 0.32 0.800 1 2012 2012
dbSNP: rs4785204
rs4785204
HEATR3
2 0.923 0.071 16 50069823 intron variant C/T snp 8.5E-02 0.800 1 2012 2012
dbSNP: rs4822983
rs4822983
CHEK2
3 0.878 0.071 22 28719078 intron variant C/T snp 0.31 0.800 1 2012 2012
dbSNP: rs6503659
rs6503659 		2 0.923 0.071 17 41741012 intergenic variant A/C,G,T snp 0.84 0.800 1 2012 2012
dbSNP: rs2274223
rs2274223
PLCE1
17 0.699 0.250 10 94306584 missense variant A/G snp 0.28 0.31 0.710 1.000 3 2010 2014
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
14 0.724 0.321 11 89284793 missense variant G/A snp 0.18 0.18 0.710 1.000 2 2009 2017
dbSNP: rs11571833
rs11571833
BRCA2
23 0.652 0.250 13 32398489 stop gained A/T snp 6.6E-03 5.4E-03 0.710 1.000 2 2014 2015
dbSNP: rs12203592
rs12203592
IRF4
22 0.699 0.250 6 396321 intron variant C/T snp 9.0E-02 0.710 1.000 2 2011 2017
dbSNP: rs16891982
rs16891982
SLC45A2
9 0.878 0.036 5 33951588 missense variant C/A,G snp 0.65 0.68 0.710 1.000 2 2009 2017
dbSNP: rs267598140
rs267598140
DDR2
2 0.923 0.071 1 162778600 missense variant T/A,G snp 0.700 3 2008 2014
dbSNP: rs12263737
rs12263737
PLCE1 ; PLCE1-AS1
1 1.000 0.036 10 94285156 intron variant G/A snp 0.31 0.700 2 2010 2012
dbSNP: rs1000668
rs1000668
TMC1
1 1.000 0.036 9 72790943 intron variant T/A,G snp 0.26 0.700 1 2012 2012
dbSNP: rs10186527
rs10186527
ALS2CR12
1 1.000 0.036 2 201335852 intron variant C/T snp 0.56 0.700 1 2012 2012
dbSNP: rs10191793
rs10191793
ST6GAL2
1 1.000 0.036 2 106809420 intron variant A/G snp 0.21 0.700 1 2012 2012
dbSNP: rs10197246
rs10197246
ALS2CR12
1 1.000 0.036 2 201340018 intron variant T/C snp 0.73 0.700 1 2012 2012
dbSNP: rs10201587
rs10201587
ALS2CR12
1 1.000 0.036 2 201338068 intron variant A/G snp 0.49 0.700 1 2012 2012
dbSNP: rs10274928
rs10274928
JAZF1
1 1.000 0.036 7 28102469 intron variant A/G,T snp 0.45 0.700 1 2012 2012
dbSNP: rs1042026
rs1042026
ADH1B
2 0.923 0.071 4 99307309 3 prime UTR variant T/C snp 0.26 0.700 1 2010 2010
dbSNP: rs10454127
rs10454127
ALS2CR12
1 1.000 0.036 2 201347651 intron variant G/A,T snp 0.56; 2.6E-04 0.700 1 2012 2012
dbSNP: rs10502995
rs10502995 		1 1.000 0.036 18 55138645 G/A snp 0.21 0.700 1 2012 2012
dbSNP: rs1050631
rs1050631
SLC39A6
3 0.878 0.071 18 36114157 synonymous variant G/A snp 0.33 0.30 0.700 1 2013 2013
dbSNP: rs10931936
rs10931936
CASP8
4 0.846 0.071 2 201279205 intron variant T/C snp 0.73 0.700 1 2012 2012