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: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.030 1.000 3 2006 2013
dbSNP: rs17268988
rs17268988
STS
2 1.000 0.040 X 7336440 intron variant C/G snv 0.22 0.020 1.000 2 2011 2017
dbSNP: rs1051266
rs1051266
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2017 2017
dbSNP: rs10938397
rs10938397
19 0.851 0.200 4 45180510 intergenic variant A/G snv 0.37 0.010 1.000 1 2013 2013
dbSNP: rs12861247
rs12861247
STS
2 1.000 0.040 X 7256158 intron variant G/A snv 7.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2017 2017
dbSNP: rs206936
rs206936
8 0.882 0.160 6 34335092 intron variant A/G snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs2161961
rs2161961
3 18 11774501 intron variant A/G snv 0.31 0.010 1.000 1 2008 2008
dbSNP: rs2251214
rs2251214
7 0.827 0.040 12 79430071 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2283265
rs2283265
12 0.776 0.160 11 113414814 intron variant C/A snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs2284411
rs2284411
4 1.000 0.040 12 13713238 intron variant C/T snv 0.34 0.010 1.000 1 2017 2017
dbSNP: rs27048
rs27048
2 1.000 0.040 5 1412530 intron variant C/A;G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs27072
rs27072
11 0.807 0.120 5 1394407 3 prime UTR variant C/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs3746544
rs3746544
10 0.790 0.120 20 10306436 3 prime UTR variant G/T snv 0.68 0.010 1.000 1 2017 2017
dbSNP: rs3785143
rs3785143
2 1.000 0.040 16 55661194 intron variant C/T snv 8.6E-02 0.010 1.000 1 2018 2018
dbSNP: rs3785157
rs3785157
1 16 55695924 intron variant C/T snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs429699
rs429699
3 0.925 0.080 5 1409012 intron variant T/C snv 0.96 0.98 0.010 1.000 1 2011 2011
dbSNP: rs5569
rs5569
19 0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs6296
rs6296
23 0.732 0.160 6 77462543 synonymous variant C/G snv 0.31 0.27 0.010 1.000 1 2017 2017
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2006 2006
dbSNP: rs75634836
rs75634836
11 0.807 0.160 13 46835532 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs7984966
rs7984966
1 13 46855311 intron variant T/A;C snv 0.010 1.000 1 2016 2016