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: rs373584456
rs373584456
1 1 156136335 missense variant C/T snv 2.4E-05 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs374726751
rs374726751
1 1 156136245 missense variant C/T snv 2.4E-05 3.5E-05 0.010 1.000 1 2017 2017
dbSNP: rs374926367
rs374926367
1 1 156139089 missense variant A/G snv 1.2E-04 1.0E-04 0.010 1.000 1 2017 2017
dbSNP: rs4675690
rs4675690
3 2 207643083 intergenic variant C/T snv 0.48 0.010 1.000 1 2008 2008
dbSNP: rs4813376
rs4813376
2 20 19870811 intron variant T/G snv 0.86 0.700 1.000 1 2010 2010
dbSNP: rs4996815
rs4996815
2 13 105999312 intron variant G/T snv 0.61 0.800 1.000 1 2010 2010
dbSNP: rs59190448
rs59190448
1 3 8761315 intron variant G/A snv 0.12 0.010 1.000 1 2015 2015
dbSNP: rs6024905
rs6024905
BPI
2 20 38329435 intron variant G/A snv 0.47 0.800 1.000 1 2010 2010
dbSNP: rs6046396
rs6046396
2 20 19871859 non coding transcript exon variant G/A snv 0.68 0.800 1.000 1 2010 2010
dbSNP: rs6444931
rs6444931
2 3 170445686 intron variant G/A snv 0.85 0.800 1.000 1 2010 2010
dbSNP: rs6627057
rs6627057
2 X 145059799 downstream gene variant T/G snv 0.16 0.800 1.000 1 2010 2010
dbSNP: rs7065696
rs7065696
2 X 53947621 intron variant C/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs7248363
rs7248363
2 19 18357076 intron variant T/C snv 0.74 0.800 1.000 1 2010 2010
dbSNP: rs7600871
rs7600871
2 2 133257389 intron variant C/T snv 0.16 0.700 1.000 1 2010 2010
dbSNP: rs771065515
rs771065515
2 1 156115240 missense variant A/G snv 2.5E-05 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs7727102
rs7727102
2 5 4720472 intron variant G/C snv 0.32 0.800 1.000 1 2010 2010
dbSNP: rs802524
rs802524
2 7 146254550 intron variant T/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs993804
rs993804
2 3 25070680 intron variant C/T snv 0.75 0.800 1.000 1 2010 2010
dbSNP: rs9983925
rs9983925
4 21 45216929 intron variant C/T snv 0.46 0.010 1.000 1 2015 2015
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 0.750 4 2006 2012
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 1.000 18 2004 2019
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 1.000 11 2006 2018
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 1.000 17 2004 2019
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.020 1.000 2 2017 2017