Source: ALL
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: rs2254298
rs2254298
23 0.701 0.200 3 8760542 intron variant G/A snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs4253747
rs4253747
1 1.000 0.040 22 46217340 intron variant T/A snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs6756667
rs6756667
1 1.000 0.040 2 46352270 intron variant A/G snv 0.62 0.010 1.000 1 2019 2019
dbSNP: rs800629
rs800629
3 0.882 0.120 2 37752757 intergenic variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs2229616
rs2229616
22 0.732 0.200 18 60372043 missense variant C/T snv 1.6E-02 1.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 < 0.001 1 2004 2004
dbSNP: rs6520015
rs6520015
1 1.000 0.040 22 46067551 non coding transcript exon variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs7292407
rs7292407
1 1.000 0.040 22 46057832 non coding transcript exon variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs4353747
rs4353747
1 1.000 0.040 22 30630488 downstream gene variant C/A;T snv 0.010 1.000 1 2019 2019