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: rs29001665
rs29001665
SETX
1 1.000 0.080 9 132331293 missense variant G/A snv 4.0E-06 1.4E-05 0.810 1.000 10 2004 2014
dbSNP: rs121434379
rs121434379
SETX
1 1.000 0.080 9 132296909 missense variant A/C snv 1.6E-05 2.8E-05 0.800 1.000 9 2004 2013
dbSNP: rs28940290
rs28940290
SETX
1 1.000 0.080 9 132281483 missense variant G/A snv 4.0E-06 0.800 1.000 9 2004 2013
dbSNP: rs997473183
rs997473183
SETX
1 1.000 0.080 9 132334624 missense variant C/D;T snv 0.700 1.000 9 2004 2013
dbSNP: rs1420833435
rs1420833435
SETX
1 1.000 0.080 9 132271806 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 8 2004 2013
dbSNP: rs267607044
rs267607044
SETX
3 1.000 0.080 9 132327718 missense variant G/A snv 8.0E-06 2.1E-05 0.700 1.000 8 2004 2013
dbSNP: rs762175796
rs762175796
SETX
1 1.000 0.080 9 132326331 missense variant A/G snv 8.1E-06 0.700 1.000 8 2004 2013
dbSNP: rs29001584
rs29001584
SETX
2 0.925 0.120 9 132330432 missense variant A/G snv 0.700 1.000 6 2004 2013
dbSNP: rs776632212
rs776632212
SETX
2 0.925 0.120 9 132326334 frameshift variant G/- del 0.700 1.000 3 2004 2009
dbSNP: rs398124286
rs398124286
SETX
2 0.925 0.120 9 132277144 splice acceptor variant CTGT/-;CTGTCTGT delins 3.5E-05 0.700 1.000 2 2009 2014
dbSNP: rs116205032
rs116205032
SETX
1 1.000 0.080 9 132329791 missense variant T/C snv 1.0E-03 4.8E-03 0.700 1.000 1 2010 2010
dbSNP: rs116333061
rs116333061
SETX
1 1.000 0.080 9 132329641 missense variant G/T snv 1.5E-03 6.4E-03 0.700 1.000 1 2010 2010
dbSNP: rs797045067
rs797045067
SETX
1 1.000 0.080 9 132297006 frameshift variant ATTGCTTTCT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs797045068
rs797045068
SETX
1 1.000 0.080 9 132295940 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs879253866
rs879253866
SETX
1 1.000 0.080 9 132288238 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs121434376
rs121434376
SETX
2 1.000 0.080 9 132327511 stop gained G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs121434377
rs121434377
SETX
1 1.000 0.080 9 132328996 stop gained G/A snv 0.700 0
dbSNP: rs121434380
rs121434380
SETX
1 1.000 0.080 9 132296907 missense variant G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs121434381
rs121434381
SETX
1 1.000 0.080 9 132331123 stop gained C/A snv 0.700 0
dbSNP: rs1471824334
rs1471824334
SETX
1 1.000 0.080 9 132278226 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1564492117
rs1564492117
SETX
1 1.000 0.080 9 132288344 frameshift variant CT/- delins 0.700 0
dbSNP: rs587776536
rs587776536
SETX
1 1.000 0.080 9 132328627 frameshift variant CCTTT/- delins 0.700 0
dbSNP: rs587776537
rs587776537
SETX
2 1.000 0.080 9 132346304 inframe deletion AGA/- delins 0.700 0
dbSNP: rs750959420
rs750959420
SETX
2 1.000 0.080 9 132311820 frameshift variant CTCT/-;CT delins 4.0E-06; 2.4E-05 3.5E-05 0.700 0
dbSNP: rs753713810
rs753713810
SETX
1 1.000 0.080 9 132334626 missense variant T/C snv 3.2E-05 1.4E-05 0.700 0