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: rs7688285
rs7688285
2 0.925 0.040 4 157047466 intergenic variant G/A snv 0.10 0.020 1.000 2 2017 2019
dbSNP: rs11724320
rs11724320
2 0.925 0.040 4 163346771 intron variant T/C snv 0.56 0.010 1.000 1 2008 2008
dbSNP: rs11946004
rs11946004
2 0.925 0.040 4 163351551 synonymous variant G/A;T snv 0.10; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs17035816
rs17035816
2 0.925 0.040 4 157167312 intron variant A/G snv 0.11 0.010 1.000 1 2017 2017
dbSNP: rs17303244
rs17303244
1 1.000 0.040 15 60908101 intron variant T/C snv 0.12 0.010 1.000 1 2013 2013
dbSNP: rs2271933
rs2271933
9 0.807 0.080 1 31626924 missense variant A/G snv 0.56 0.50 0.010 1.000 1 2019 2019
dbSNP: rs3817190
rs3817190
6 0.851 0.080 12 121274274 missense variant T/A;G snv 0.38 0.010 1.000 1 2007 2007
dbSNP: rs6295
rs6295
40 0.645 0.200 5 63962738 intron variant C/G snv 0.49 0.010 1.000 1 2017 2017
dbSNP: rs324981
rs324981
18 0.724 0.320 7 34778501 missense variant A/T snv 0.44 0.47 0.010 1.000 1 2011 2011
dbSNP: rs5751876
rs5751876
16 0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52 0.010 1.000 1 2010 2010
dbSNP: rs1718119
rs1718119
21 0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06 0.010 1.000 1 2007 2007