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: rs428595
rs428595
LOC107985532
3 1.000 0.120 22 21662102 non coding transcript exon variant A/G snv 0.98 0.700 1.000 1 2018 2018
dbSNP: rs3104402
rs3104402 		1 1.000 0.120 6 32713899 upstream gene variant T/G snv 0.96 0.700 1.000 1 2007 2007
dbSNP: rs4948088
rs4948088 		2 0.925 0.160 7 50959497 intron variant A/C snv 0.96 0.800 1.000 1 2009 2009
dbSNP: rs3132453
rs3132453
PRRC2A
2 0.925 0.200 6 31636267 missense variant T/G snv 0.96 0.95 0.700 1.000 1 2007 2007
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 1.000 0.950 80 2004 2020
dbSNP: rs7533564
rs7533564
PTGFR ; MGC27382
4 0.925 0.120 1 78360228 intron variant C/T snv 0.92 0.700 1.000 1 2016 2016
dbSNP: rs3130933
rs3130933
POU5F1 ; TCF19
3 0.882 0.200 6 31164308 intron variant T/C snv 0.92 0.700 1.000 1 2007 2007
dbSNP: rs9267658
rs9267658
CYP21A2 ; SLC44A4 ; EHMT2-AS1
3 0.882 0.240 6 31878208 intron variant T/C snv 0.91 0.700 1.000 1 2007 2007
dbSNP: rs3132946
rs3132946
NOTCH4
3 0.882 0.240 6 32222251 intron variant A/G snv 0.91 0.700 1.000 1 2007 2007
dbSNP: rs3134954
rs3134954
TNXB
4 0.882 0.240 6 32104116 intron variant C/T snv 0.90 0.700 1.000 1 2007 2007
dbSNP: rs3130050
rs3130050
BAG6 ; APOM
3 0.882 0.240 6 31650984 intron variant G/A snv 0.89 0.700 1.000 1 2007 2007
dbSNP: rs9267992
rs9267992 		3 0.882 0.240 6 32252620 upstream gene variant G/A snv 0.89 0.700 1.000 1 2007 2007
dbSNP: rs316019
rs316019
SLC22A2
8 0.790 0.360 6 160249250 missense variant A/C snv 0.90 0.89 0.010 1.000 1 2010 2010
dbSNP: rs2905722
rs2905722
MICB-DT
5 0.925 0.120 6 31481550 intron variant A/G snv 0.88 0.700 1.000 1 2007 2007
dbSNP: rs9267649
rs9267649 		3 0.882 0.240 6 31857051 downstream gene variant A/G snv 0.88 0.700 1.000 1 2007 2007
dbSNP: rs550448
rs550448
JAZF1-AS1
1 1.000 0.120 7 28189423 intron variant G/A snv 0.86 0.800 1.000 1 2011 2011
dbSNP: rs1634731
rs1634731
MUC21
1 1.000 0.120 6 30987904 intron variant G/A snv 0.86 0.700 1.000 1 2007 2007
dbSNP: rs10810632
rs10810632
BNC2
1 1.000 0.120 9 16789026 intron variant C/T snv 0.85 0.700 1.000 1 2010 2010
dbSNP: rs2254556
rs2254556 		4 0.851 0.280 6 31374854 intron variant T/C snv 0.85 0.700 1.000 1 2007 2007
dbSNP: rs2611215
rs2611215 		1 1.000 0.120 4 165653115 intron variant A/G snv 0.83 0.700 1.000 1 2015 2015
dbSNP: rs2542151
rs2542151 		11 0.763 0.480 18 12779948 upstream gene variant G/T snv 0.83 0.830 1.000 6 2007 2015
dbSNP: rs3129934
rs3129934
TSBP1 ; TSBP1-AS1
2 0.925 0.160 6 32368410 intron variant T/C snv 0.83 0.700 1.000 1 2007 2007
dbSNP: rs3130361
rs3130361 		3 0.925 0.160 6 30371787 intergenic variant A/G snv 0.81 0.700 1.000 1 2007 2007
dbSNP: rs6457374
rs6457374
HLA-B ; LOC112267902
9 0.851 0.200 6 31304484 intron variant C/T snv 0.81 0.700 1.000 1 2007 2007
dbSNP: rs566369
rs566369
LOC107983981
1 1.000 0.120 15 53216395 intergenic variant A/G snv 0.81 0.700 1.000 1 2010 2010