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: rs113760175
rs113760175
3 6 22343363 intron variant G/A;T snv 0.700 1.000 2 2016 2019
dbSNP: rs114050631
rs114050631
5 2 218156235 regulatory region variant C/T snv 6.9E-03 0.700 1.000 2 2016 2019
dbSNP: rs1144700
rs1144700
5 6 16744456 intron variant C/G;T snv 0.700 1.000 2 2016 2019
dbSNP: rs11574938
rs11574938
6 0.827 0.120 16 30474072 missense variant G/A;C snv 0.62 0.700 1.000 2 2016 2019
dbSNP: rs11642657
rs11642657
3 16 85982722 intron variant C/A;T snv 0.700 1.000 2 2016 2019
dbSNP: rs11725704
rs11725704
5 4 74094279 downstream gene variant A/G snv 0.28 0.700 1.000 2 2016 2019
dbSNP: rs12239046
rs12239046
9 1 247438293 intron variant T/C snv 0.58 0.700 1.000 2 2016 2019
dbSNP: rs12550612
rs12550612
5 8 23109256 intron variant G/A snv 0.83 0.700 1.000 2 2016 2019
dbSNP: rs12600856
rs12600856
5 17 40007042 intergenic variant T/C;G snv 0.700 1.000 2 2016 2019
dbSNP: rs143034248
rs143034248
7 11 118210555 missense variant C/T snv 4.0E-03 3.5E-03 0.700 1.000 2 2016 2019
dbSNP: rs16850073
rs16850073
5 4 73838282 3 prime UTR variant C/T snv 0.29 0.700 1.000 2 2016 2019
dbSNP: rs1700159
rs1700159
4 1.000 0.040 12 51912002 intron variant C/A;G;T snv 0.700 1.000 2 2016 2019
dbSNP: rs174549
rs174549
12 0.851 0.240 11 61803910 5 prime UTR variant G/A snv 0.26 0.700 1.000 2 2016 2019
dbSNP: rs1822534
rs1822534
2 3 12225304 intergenic variant A/G;T snv 0.700 1.000 2 2016 2019
dbSNP: rs2038700
rs2038700
7 14 24992783 intron variant T/C snv 0.53 0.700 1.000 2 2016 2019
dbSNP: rs2158799
rs2158799
5 7 28237488 intron variant C/G;T snv 0.70 0.700 1.000 2 2016 2019
dbSNP: rs2369135
rs2369135
1 1 159549102 intergenic variant G/A snv 0.84 0.700 1.000 2 2016 2019
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 2 2016 2019
dbSNP: rs247826
rs247826
2 16 84549359 intron variant C/T snv 0.18 0.700 1.000 2 2016 2019
dbSNP: rs2853946
rs2853946
2 6 31279426 intron variant A/G;T snv 0.37 0.700 1.000 2 2014 2019
dbSNP: rs3184504
rs3184504
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 2 2016 2019
dbSNP: rs333947
rs333947
7 1 109928142 intron variant G/A snv 0.13 0.700 1.000 2 2016 2019
dbSNP: rs34599082
rs34599082
8 1 159205704 missense variant C/T snv 1.1E-02 9.9E-03 0.700 1.000 2 2016 2019
dbSNP: rs3735485
rs3735485
6 7 44969742 missense variant A/G snv 0.87 0.88 0.700 1.000 2 2016 2019
dbSNP: rs3811444
rs3811444
12 1 247876149 missense variant C/T snv 0.31 0.26 0.700 1.000 2 2016 2019