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: rs1992044
rs1992044
2 8 57928349 intron variant G/A;T snv 0.700 1.000 1 2010 2010
dbSNP: rs1992045
rs1992045
2 8 57928365 intron variant C/T snv 0.14 0.800 1.000 1 2010 2010
dbSNP: rs2018368
rs2018368
2 11 10718819 intergenic variant C/G snv 0.59 0.800 1.000 1 2010 2010
dbSNP: rs2044117
rs2044117
2 13 101055958 intron variant G/A snv 0.19 0.800 1.000 1 2010 2010
dbSNP: rs2155907
rs2155907
2 11 98223945 intergenic variant C/T snv 0.38 0.700 1.000 1 2010 2010
dbSNP: rs2509843
rs2509843
2 11 98254676 intergenic variant A/C;G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs2841307
rs2841307
2 6 100308811 intergenic variant C/T snv 0.20 0.800 1.000 1 2010 2010
dbSNP: rs3924999
rs3924999
5 0.851 0.040 8 32595840 missense variant G/A snv 0.40 0.31 0.010 1.000 1 2010 2010
dbSNP: rs4813376
rs4813376
2 20 19870811 intron variant T/G snv 0.86 0.700 1.000 1 2010 2010
dbSNP: rs4949526
rs4949526
3 1.000 0.040 1 29959372 intergenic variant T/C snv 0.54 0.800 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: 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: rs6484218
rs6484218
5 0.882 0.040 11 10369034 intron variant G/A snv 0.21 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: 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: rs7727102
rs7727102
2 5 4720472 intron variant G/C snv 0.32 0.800 1.000 1 2010 2010
dbSNP: rs778294
rs778294
5 0.851 0.040 13 105489886 synonymous variant C/A;T snv 0.27; 4.0E-06 0.26 0.010 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: rs802568
rs802568
4 0.925 0.040 7 146262151 intron variant T/G snv 0.17 0.800 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: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.100 1.000 10 2011 2018
dbSNP: rs2494732
rs2494732
11 0.763 0.240 14 104772855 intron variant T/C snv 0.50 0.47 0.050 0.800 5 2011 2019