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: rs75391579
rs75391579
5 0.827 0.280 9 34648170 missense variant A/G snv 1.4E-03 1.9E-03 0.900 0.962 26 1991 2018
dbSNP: rs2070074
rs2070074
12 0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 0.890 1.000 35 1991 2016
dbSNP: rs111033690
rs111033690
3 0.882 0.120 9 34647858 missense variant C/G;T snv 4.0E-06; 2.5E-04 0.850 1.000 23 1992 2017
dbSNP: rs111033773
rs111033773
3 0.882 0.200 9 34649032 missense variant G/T snv 1.4E-04 1.7E-04 0.840 1.000 29 1991 2016
dbSNP: rs111033635
rs111033635
1 1.000 0.120 9 34646771 missense variant A/G snv 0.810 1.000 22 1991 2016
dbSNP: rs111033781
rs111033781
2 0.925 0.120 9 34649058 missense variant T/A snv 0.810 1.000 2 1999 2012
dbSNP: rs111033670
rs111033670
1 1.000 0.120 9 34647531 missense variant G/A;C snv 3.6E-05; 4.0E-06 0.800 1.000 32 1991 2017
dbSNP: rs111033658
rs111033658
1 1.000 0.120 9 34647205 missense variant C/T snv 1.4E-05 0.800 1.000 27 1991 2016
dbSNP: rs786204763
rs786204763
1 1.000 0.120 9 34648849 missense variant C/T snv 1.2E-05 0.800 1.000 27 1991 2016
dbSNP: rs368166217
rs368166217
1 1.000 0.120 9 34648846 missense variant C/T snv 3.2E-05 1.4E-05 0.800 1.000 25 1991 2019
dbSNP: rs367543258
rs367543258
1 1.000 0.120 9 34647956 missense variant G/A;T snv 0.800 1.000 24 1991 2016
dbSNP: rs111033669
rs111033669
1 1.000 0.120 9 34647529 missense variant A/G snv 4.0E-06 0.800 1.000 23 1991 2016
dbSNP: rs111033674
rs111033674
1 1.000 0.120 9 34647695 stop gained C/G;T snv 1.2E-05 0.800 1.000 22 1991 2016
dbSNP: rs111033636
rs111033636
1 1.000 0.120 9 34646786 missense variant G/A;C;T snv 0.800 1.000 21 1991 2016
dbSNP: rs111033644
rs111033644
1 1.000 0.120 9 34647101 missense variant T/A snv 0.800 1.000 21 1991 2016
dbSNP: rs111033646
rs111033646
1 1.000 0.120 9 34647119 splice acceptor variant A/C snv 0.800 1.000 21 1991 2016
dbSNP: rs111033647
rs111033647
1 1.000 0.120 9 34647136 missense variant G/A;T snv 0.800 1.000 21 1991 2016
dbSNP: rs111033648
rs111033648
1 1.000 0.120 9 34647158 missense variant G/A;T snv 0.800 1.000 21 1991 2016
dbSNP: rs111033663
rs111033663
1 1.000 0.120 9 34647227 missense variant T/C;G snv 4.0E-06 0.800 1.000 21 1991 2016
dbSNP: rs111033666
rs111033666
1 1.000 0.120 9 34647504 missense variant T/C;G snv 4.0E-06 0.800 1.000 21 1991 2016
dbSNP: rs111033673
rs111033673
1 1.000 0.120 9 34647682 missense variant A/C snv 0.800 1.000 21 1991 2016
dbSNP: rs111033675
rs111033675
1 1.000 0.120 9 34647696 missense variant G/A snv 4.0E-06 7.0E-06 0.800 1.000 21 1991 2016
dbSNP: rs111033677
rs111033677
1 1.000 0.120 9 34647665 missense variant G/A snv 0.800 1.000 21 1991 2016
dbSNP: rs111033678
rs111033678
1 1.000 0.120 9 34647669 missense variant A/C;T snv 0.800 1.000 21 1991 2016
dbSNP: rs111033774
rs111033774
1 1.000 0.120 9 34649042 missense variant C/T snv 0.800 1.000 21 1991 2016