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: rs112029032
rs112029032
HGSNAT
4 0.882 0.160 8 43199504 missense variant G/A snv 4.1E-03 3.6E-03 0.800 0
dbSNP: rs483352908
rs483352908
HGSNAT
2 0.925 0.120 8 43147064 splice donor variant G/A snv 4.7E-05 1.4E-05 0.700 1.000 8 2006 2015
dbSNP: rs121908285
rs121908285
HGSNAT
2 0.925 0.120 8 43182162 missense variant C/T snv 1.2E-05 7.0E-06 0.700 1.000 5 2006 2011
dbSNP: rs753355844
rs753355844
HGSNAT
3 0.882 0.120 8 43193790 missense variant G/A snv 1.6E-05 0.700 1.000 5 2006 2010
dbSNP: rs756310864
rs756310864
HGSNAT
2 0.925 0.120 8 43197848 missense variant C/T snv 1.3E-04 3.5E-05 0.700 1.000 4 2006 2010
dbSNP: rs398124544
rs398124544
HGSNAT
1 1.000 0.120 8 43191596 splice donor variant G/A snv 4.0E-06 2.1E-05 0.700 1.000 3 2006 2014
dbSNP: rs483352896
rs483352896
HGSNAT
2 0.925 0.120 8 43158921 splice acceptor variant A/G snv 2.5E-05 2.1E-05 0.700 1.000 3 2011 2015
dbSNP: rs747240928
rs747240928
HGSNAT
1 1.000 0.120 8 43196999 stop gained C/T snv 1.2E-05 7.0E-06 0.700 1.000 3 2006 2015
dbSNP: rs766835582
rs766835582
HGSNAT
1 1.000 0.120 8 43182163 missense variant G/A snv 3.6E-05 3.5E-05 0.700 1.000 3 2006 2009
dbSNP: rs1085307880
rs1085307880
HGSNAT
2 0.925 0.120 8 43170690 frameshift variant A/- del 0.700 1.000 2 2007 2009
dbSNP: rs121908282
rs121908282
HGSNAT
3 0.925 0.120 8 43173740 missense variant C/T snv 2.8E-05 1.4E-05 0.700 1.000 2 2009 2010
dbSNP: rs1554537841
rs1554537841
HGSNAT
1 1.000 0.120 8 43197900 stop gained C/G snv 0.700 1.000 2 2009 2015
dbSNP: rs775078211
rs775078211
HGSNAT
3 0.882 0.120 8 43191495 stop gained C/G;T snv 4.0E-06; 1.6E-05 0.700 1.000 2 2006 2013
dbSNP: rs1057518644
rs1057518644
HGSNAT
10 0.925 0.120 8 43192413 stop gained C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1447092074
rs1447092074
HGSNAT
1 1.000 0.120 8 43178073 splice acceptor variant G/A snv 4.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs1554533211
rs1554533211
HGSNAT
1 1.000 0.120 8 43178169 stop gained G/A snv 0.700 1.000 1 2006 2006
dbSNP: rs1563366896
rs1563366896
HGSNAT
3 0.882 0.120 8 43169216 stop gained C/T snv 0.700 1.000 1 2008 2008
dbSNP: rs193066451
rs193066451
HGSNAT
3 0.882 0.120 8 43159045 splice donor variant G/A snv 4.0E-05 1.3E-04 0.700 1.000 1 2006 2006
dbSNP: rs398124545
rs398124545
HGSNAT
1 1.000 0.120 8 43193844 splice donor variant G/A snv 8.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs762402992
rs762402992
HGSNAT
1 1.000 0.120 8 43172308 splice acceptor variant A/G snv 4.0E-06 0.700 1.000 1 2009 2009
dbSNP: rs1085307112
rs1085307112
HGSNAT
1 1.000 0.120 8 43173728 missense variant A/C snv 0.700 0
dbSNP: rs121908283
rs121908283
HGSNAT
1 1.000 0.120 8 43178184 stop gained T/G snv 0.700 0
dbSNP: rs121908284
rs121908284
HGSNAT
1 1.000 0.120 8 43193824 missense variant T/A snv 7.0E-06 0.700 0
dbSNP: rs121908286
rs121908286
HGSNAT
1 1.000 0.120 8 43197682 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1554526454
rs1554526454
HGSNAT
1 1.000 0.120 8 43140504 frameshift variant -/CG delins 0.700 0