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: rs886039486
rs886039486
EXT1
1 1.000 0.120 8 118110508 frameshift variant CT/- delins 0.700 0
dbSNP: rs1563659571
rs1563659571
EXT1
1 1.000 0.120 8 118110677 frameshift variant CT/A delins 0.700 0
dbSNP: rs1554579004
rs1554579004
EXT1
1 1.000 0.120 8 117822481 frameshift variant G/- del 0.700 0
dbSNP: rs1554601481
rs1554601481
EXT1
1 1.000 0.120 8 118110201 frameshift variant G/- delins 0.700 0
dbSNP: rs1563659352
rs1563659352
EXT1
1 1.000 0.120 8 118110249 frameshift variant G/- del 0.700 0
dbSNP: rs886039355
rs886039355
EXT1
1 1.000 0.120 8 117819744 frameshift variant G/-;GG delins 0.700 1.000 5 2000 2008
dbSNP: rs119103290
rs119103290
EXT1
1 1.000 0.120 8 117837146 missense variant G/A snv 0.700 1.000 12 1997 2016
dbSNP: rs1363815113
rs1363815113
EXT1
1 1.000 0.120 8 117799852 stop gained G/A snv 4.0E-06 0.700 1.000 2 2001 2015
dbSNP: rs1554656266
rs1554656266
EXT1
1 1.000 0.120 8 117799849 stop gained G/A snv 0.700 1.000 1 2009 2009
dbSNP: rs756718693
rs756718693
EXT1
2 0.925 0.120 8 117799833 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs188859975
rs188859975
EXT1
1 1.000 0.120 8 117819755 missense variant G/A snv 2.5E-04 7.7E-05 0.700 0
dbSNP: rs1227875610
rs1227875610
EXT1
1 1.000 0.120 8 118110768 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs11546829
rs11546829
EXT1
1 1.000 0.120 8 117835543 stop gained G/A;T snv 0.26 0.24 0.700 0
dbSNP: rs1563571318
rs1563571318
EXT1
1 1.000 0.120 8 117822566 stop gained G/C snv 0.700 0
dbSNP: rs1554580153
rs1554580153
EXT1
1 1.000 0.120 8 117837172 missense variant G/T snv 0.700 0
dbSNP: rs1563659474
rs1563659474
EXT1
1 1.000 0.120 8 118110504 frameshift variant GA/- delins 0.700 1.000 1 2008 2008
dbSNP: rs1554601568
rs1554601568
EXT1
1 1.000 0.120 8 118110829 frameshift variant T/- delins 0.700 1.000 3 2009 2014
dbSNP: rs1563659821
rs1563659821
EXT1
1 1.000 0.120 8 118110944 frameshift variant T/- del 0.700 0
dbSNP: rs1563569983
rs1563569983
EXT1
1 1.000 0.120 8 117818491 stop gained T/A snv 0.700 0
dbSNP: rs1554580149
rs1554580149
EXT1
1 1.000 0.120 8 117837143 missense variant T/A;C snv 0.700 0
dbSNP: rs1554601483
rs1554601483
EXT1
1 1.000 0.120 8 118110209 missense variant T/C snv 0.800 1.000 8 1997 2001
dbSNP: rs1554578802
rs1554578802
EXT1
1 1.000 0.120 8 117819796 splice acceptor variant T/C snv 0.700 1.000 5 2000 2015
dbSNP: rs1554580162
rs1554580162
EXT1
1 1.000 0.120 8 117837203 splice acceptor variant T/C snv 0.700 1.000 4 2000 2009
dbSNP: rs1554580147
rs1554580147
EXT1
1 1.000 0.120 8 117837128 missense variant T/C snv 0.700 1.000 3 2007 2014
dbSNP: rs1554580140
rs1554580140
EXT1
1 1.000 0.120 8 117837105 splice region variant T/G snv 0.700 0