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: rs386834144
rs386834144
1 1.000 0.240 6 41159790 splice donor variant A/G snv 8.0E-06 0.710 1.000 1 2019 2019
dbSNP: rs386833840
rs386833840
1 1.000 0.240 19 35907534 frameshift variant C/- del 0.700 1.000 2 2000 2002
dbSNP: rs104893998
rs104893998
2 0.925 0.240 6 41161421 stop gained C/T snv 8.0E-06 0.700 1.000 1 2003 2003
dbSNP: rs104894732
rs104894732
2 0.925 0.240 19 35908227 start lost A/G snv 0.700 1.000 1 2002 2002
dbSNP: rs121908402
rs121908402
3 0.882 0.280 6 41161277 missense variant A/C snv 1.2E-05 0.700 1.000 1 2005 2005
dbSNP: rs386834142
rs386834142
1 1.000 0.240 6 41163037 splice region variant CCT/- delins 0.700 1.000 1 2008 2008
dbSNP: rs104894002
rs104894002
7 0.790 0.320 6 41161557 stop gained G/A snv 2.0E-05 2.1E-05 0.700 0
dbSNP: rs201258663
rs201258663
6 0.807 0.320 6 41161457 missense variant G/A snv 5.6E-05 4.9E-05 0.700 0
dbSNP: rs386833839
rs386833839
1 1.000 0.240 19 35907559 missense variant C/T snv 0.700 0
dbSNP: rs386833841
rs386833841
1 1.000 0.240 19 35907530 missense variant C/G snv 4.0E-06 0.700 0
dbSNP: rs386833842
rs386833842
1 1.000 0.240 19 35907232 stop gained C/A;T snv 8.5E-06 0.700 0
dbSNP: rs386834140
rs386834140
1 1.000 0.240 6 41161385 frameshift variant C/- delins 0.700 0
dbSNP: rs386834141
rs386834141
1 1.000 0.240 6 41161341 frameshift variant C/- del 0.700 0
dbSNP: rs386834143
rs386834143
2 0.925 0.240 6 41163043 stop gained C/A snv 0.700 0
dbSNP: rs797044603
rs797044603
5 0.827 0.320 6 41161541 missense variant T/C snv 4.0E-06 0.700 0