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: rs1057520608
rs1057520608
EXT1
1 1.000 0.120 8 118110195 stop gained A/T snv 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: rs1227875610
rs1227875610
EXT1
1 1.000 0.120 8 118110768 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1554579004
rs1554579004
EXT1
1 1.000 0.120 8 117822481 frameshift variant G/- del 0.700 0
dbSNP: rs1554580140
rs1554580140
EXT1
1 1.000 0.120 8 117837105 splice region variant T/G snv 0.700 0
dbSNP: rs1554580142
rs1554580142
EXT1
1 1.000 0.120 8 117837106 splice donor variant A/T 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: rs1554580153
rs1554580153
EXT1
1 1.000 0.120 8 117837172 missense variant G/T snv 0.700 0
dbSNP: rs1554601476
rs1554601476
EXT1
1 1.000 0.120 8 118110192 frameshift variant -/T delins 0.700 0
dbSNP: rs1554601481
rs1554601481
EXT1
1 1.000 0.120 8 118110201 frameshift variant G/- delins 0.700 0
dbSNP: rs1554601502
rs1554601502
EXT1
1 1.000 0.120 8 118110378 inframe deletion ACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGT/- delins 0.700 0
dbSNP: rs1554601525
rs1554601525
EXT1
1 1.000 0.120 8 118110512 frameshift variant -/AC delins 0.700 0
dbSNP: rs1554601526
rs1554601526
EXT1
1 1.000 0.120 8 118110526 frameshift variant A/- delins 0.700 0
dbSNP: rs1554657940
rs1554657940
EXT1
1 1.000 0.120 8 117812924 splice acceptor variant TGTTGTCGTAGGGCAGAAAACGGCTGCTCATAACCTGGGAGGAAGTAGAAGTAGGCAGTGGGGAGGGAATGA/- delins 0.700 0
dbSNP: rs1563569983
rs1563569983
EXT1
1 1.000 0.120 8 117818491 stop gained T/A snv 0.700 0
dbSNP: rs1563571296
rs1563571296
EXT1
1 1.000 0.120 8 117822544 stop gained -/TCCATATTAAACTGTTACGTGAT delins 0.700 0
dbSNP: rs1563571318
rs1563571318
EXT1
1 1.000 0.120 8 117822566 stop gained G/C snv 0.700 0
dbSNP: rs1563575697
rs1563575697
EXT1
1 1.000 0.120 8 117837175 frameshift variant -/GA ins 0.700 0
dbSNP: rs1563659352
rs1563659352
EXT1
1 1.000 0.120 8 118110249 frameshift variant G/- del 0.700 0
dbSNP: rs1563659571
rs1563659571
EXT1
1 1.000 0.120 8 118110677 frameshift variant CT/A delins 0.700 0
dbSNP: rs1563659649
rs1563659649
EXT1
1 1.000 0.120 8 118110764 frameshift variant -/T delins 0.700 0
dbSNP: rs1563659821
rs1563659821
EXT1
1 1.000 0.120 8 118110944 frameshift variant T/- del 0.700 0
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: rs886039486
rs886039486
EXT1
1 1.000 0.120 8 118110508 frameshift variant CT/- delins 0.700 0
dbSNP: rs119103287
rs119103287
EXT1
1 1.000 0.120 8 117837145 missense variant C/A;T snv 4.0E-06 0.700 1.000 12 1997 2016