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: rs4758675
rs4758675
1 12 122207191 missense variant C/A;G snv 1.00 0.99 0.700 1.000 1 2019 2019
dbSNP: rs7955371
rs7955371
1 12 885321 missense variant G/C snv 1.00 0.99 0.700 1.000 1 2012 2012
dbSNP: rs480392
rs480392
3 1 107436774 synonymous variant A/C snv 0.99 0.95 0.700 1.000 1 2012 2012
dbSNP: rs2756231
rs2756231
1 10 106706654 intron variant C/T snv 0.98 0.97 0.700 1.000 1 2012 2012
dbSNP: rs3851294
rs3851294
2 1 205161285 missense variant A/G;T snv 0.93 0.700 1.000 1 2018 2018
dbSNP: rs2072560
rs2072560
5 11 116791110 missense variant T/C snv 0.89 0.94 0.700 1.000 1 2012 2012
dbSNP: rs26008
rs26008
1 5 131672501 missense variant T/A;C snv 0.88 0.700 1.000 1 2017 2017
dbSNP: rs651821
rs651821
17 0.851 0.360 11 116791863 5 prime UTR variant C/T snv 0.88 0.89 0.800 1.000 9 2012 2019
dbSNP: rs7122944
rs7122944
1 11 117163903 non coding transcript exon variant G/A;T snv 4.0E-06; 0.81 0.87 0.700 1.000 1 2012 2012
dbSNP: rs2075292
rs2075292
1 11 116861796 intron variant G/T snv 0.80 0.86 0.800 1.000 3 2008 2019
dbSNP: rs2642438
rs2642438
6 1 220796686 missense variant A/G snv 0.75 0.78 0.700 1.000 1 2019 2019
dbSNP: rs1982151
rs1982151
9 0.807 0.120 9 84002350 missense variant A/G;T snv 0.73 0.700 1.000 1 2018 2018
dbSNP: rs1042034
rs1042034
15 0.851 0.240 2 21002409 missense variant C/T snv 0.70 0.78 0.800 1.000 6 2010 2019
dbSNP: rs6558172
rs6558172
2 8 22634539 intron variant G/A;C snv 0.70; 7.8E-06 0.700 1.000 1 2018 2018
dbSNP: rs1553318
rs1553318
3 5 157052312 intron variant G/A;C snv 6.2E-03; 0.67 0.700 1.000 2 2015 2018
dbSNP: rs838133
rs838133
3 19 48756272 synonymous variant A/G;T snv 0.67; 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs3769823
rs3769823
6 0.851 0.040 2 201258272 missense variant A/G snv 0.66 0.65 0.700 1.000 1 2017 2017
dbSNP: rs6025606
rs6025606
1 20 57523677 missense variant T/A;C snv 4.0E-06; 0.66 0.700 1.000 1 2018 2018
dbSNP: rs34358
rs34358
1 5 75669297 stop gained G/A snv 0.63 0.59 0.700 1.000 1 2009 2009
dbSNP: rs1260326
rs1260326
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.800 1.000 23 2008 2019
dbSNP: rs5882
rs5882
35 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 0.700 1.000 1 2009 2009
dbSNP: rs440446
rs440446
8 0.807 0.200 19 44905910 missense variant C/G;T snv 0.60 0.700 1.000 1 2012 2012
dbSNP: rs3803357
rs3803357
1 15 40459356 missense variant C/A snv 0.59 0.60 0.700 1.000 1 2017 2017
dbSNP: rs7946
rs7946
6 0.851 0.160 17 17506246 missense variant C/T snv 0.59 0.59 0.700 1.000 1 2017 2017
dbSNP: rs2270994
rs2270994
1 11 48136317 intron variant T/C snv 0.58 0.48 0.700 1.000 1 2009 2009