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: rs80338761
rs80338761
SEPTIN9
4 0.882 0.080 17 77402298 missense variant C/T snv 0.850 1.000 6 2005 2013
dbSNP: rs80338762
rs80338762
SEPTIN9
1 1.000 0.040 17 77402314 missense variant C/T snv 0.820 1.000 5 2005 2009
dbSNP: rs80338760
rs80338760
SEPTIN9
1 1.000 0.040 17 77320193 5 prime UTR variant G/C snv 0.700 0
dbSNP: rs375038332
rs375038332
SEPTIN4 ; SEPTIN4-AS1
1 1.000 0.040 17 58521810 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs753318328
rs753318328
SEPTIN9
1 1.000 0.040 17 77402281 missense variant C/T snv 8.7E-05 1.3E-04 0.010 1.000 1 2009 2009
dbSNP: rs758280589
rs758280589
SEPTIN9
1 1.000 0.040 17 77402301 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs763296282
rs763296282
SEPTIN11 ; LOC105377291
1 1.000 0.040 4 77005693 missense variant C/T snv 2.8E-05 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs891414719
rs891414719
SEPTIN9
1 1.000 0.040 17 77402265 missense variant C/T snv 0.010 1.000 1 2009 2009