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: rs121918280
rs121918280
EXT2
2 0.925 0.160 11 44114237 missense variant G/A snv 1.4E-05 0.800 1.000 10 1997 2009
dbSNP: rs764379119
rs764379119
EXT2
1 1.000 0.160 11 44114226 missense variant G/A;C snv 1.2E-05 0.700 1.000 9 1997 2009
dbSNP: rs771803942
rs771803942
EXT2
1 1.000 0.160 11 44109262 missense variant C/T snv 7.2E-05 1.4E-05 0.700 1.000 9 1997 2009
dbSNP: rs121918279
rs121918279
EXT2
5 0.851 0.240 11 44108226 stop gained C/G;T snv 4.0E-06 0.700 1.000 5 1996 2014
dbSNP: rs886039358
rs886039358
EXT2
1 1.000 0.160 11 44109201 stop gained C/T snv 7.0E-06 0.700 1.000 5 2000 2016
dbSNP: rs1369420640
rs1369420640
EXT2
1 1.000 0.160 11 44126956 splice donor variant G/A;T snv 4.0E-06 0.700 1.000 4 2001 2018
dbSNP: rs1565196489
rs1565196489
EXT2
1 1.000 0.160 11 44108071 frameshift variant CT/- delins 0.700 1.000 3 2009 2016
dbSNP: rs754533434
rs754533434
EXT2
1 1.000 0.160 11 44107779 stop gained C/T snv 1.2E-05 7.0E-06 0.700 1.000 3 1998 2015
dbSNP: rs886041199
rs886041199
EXT2
1 1.000 0.160 11 44124950 frameshift variant -/GC delins 0.700 1.000 3 2000 2010
dbSNP: rs1450980907
rs1450980907
EXT2
1 1.000 0.160 11 44126950 stop gained G/A;T snv 4.0E-06 0.700 1.000 2 2009 2013
dbSNP: rs763718818
rs763718818
EXT2
1 1.000 0.160 11 44124982 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.700 1.000 2 2005 2017
dbSNP: rs864309638
rs864309638
EXT2
1 1.000 0.160 11 44124787 splice acceptor variant A/C snv 0.700 1.000 2 2009 2009
dbSNP: rs1555006433
rs1555006433
EXT2
1 1.000 0.160 11 44130097 stop gained C/T snv 0.700 1.000 1 2011 2011
dbSNP: rs1565196333
rs1565196333
EXT2
1 1.000 0.160 11 44107950 frameshift variant C/- del 0.700 1.000 1 2014 2014
dbSNP: rs1565205890
rs1565205890
EXT2
1 1.000 0.160 11 44130140 splice donor variant T/A snv 0.700 1.000 1 2009 2009
dbSNP: rs121918281
rs121918281
EXT2
1 1.000 0.160 11 44114224 stop gained C/G snv 0.700 0
dbSNP: rs1555002457
rs1555002457
EXT2
1 1.000 0.160 11 44107951 frameshift variant G/- delins 0.700 0
dbSNP: rs1555002460
rs1555002460
EXT2
1 1.000 0.160 11 44107956 frameshift variant -/A delins 0.700 0
dbSNP: rs1555002543
rs1555002543
EXT2
1 1.000 0.160 11 44108141 stop gained C/A snv 0.700 0
dbSNP: rs1555005398
rs1555005398
EXT2
1 1.000 0.160 11 44124973 stop gained C/T snv 0.700 0
dbSNP: rs1564986609
rs1564986609
EXT2
1 1.000 0.160 11 44232430 stop gained G/A snv 0.700 0
dbSNP: rs1565199251
rs1565199251
EXT2
1 1.000 0.160 11 44114228 stop gained C/T snv 0.700 0
dbSNP: rs267606786
rs267606786
EXT2
1 1.000 0.160 11 44124817 stop gained C/T snv 0.700 0
dbSNP: rs772690312
rs772690312
EXT2
2 0.925 0.160 11 44197916 stop gained C/T snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs864309636
rs864309636
EXT2
1 1.000 0.160 11 44108162 frameshift variant CTGT/- delins 0.700 0