Source: CURATED ×
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: rs1554601568
rs1554601568
EXT1
1 1.000 0.120 8 118110829 frameshift variant T/- delins 0.700 1.000 3 2009 2014
dbSNP: rs1554656288
rs1554656288
EXT1
1 1.000 0.120 8 117799894 frameshift variant A/- delins 0.700 1.000 3 2001 2015
dbSNP: rs1563872934
rs1563872934
EXT1
1 1.000 0.120 8 117804773 frameshift variant A/- del 0.700 1.000 3 2001 2015
dbSNP: rs1554601504
rs1554601504
EXT1
1 1.000 0.120 8 118110384 frameshift variant ATGCTGGCTTTGG/- delins 0.700 1.000 2 2002 2009
dbSNP: rs1554601507
rs1554601507
EXT1
1 1.000 0.120 8 118110399 frameshift variant -/AGCA delins 0.700 1.000 1 2009 2009
dbSNP: rs1563659474
rs1563659474
EXT1
1 1.000 0.120 8 118110504 frameshift variant GA/- delins 0.700 1.000 1 2008 2008
dbSNP: rs886039356
rs886039356
EXT1
1 1.000 0.120 8 117819743 frameshift variant A/- del 0.700 1.000 1 1995 1995
dbSNP: rs1554579004
rs1554579004
EXT1
1 1.000 0.120 8 117822481 frameshift variant G/- del 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: 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: 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: rs886039486
rs886039486
EXT1
1 1.000 0.120 8 118110508 frameshift variant CT/- delins 0.700 0
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: rs1131691623
rs1131691623
EXT1
1 1.000 0.120 8 117804894 splice acceptor variant C/G;T snv 0.700 1.000 3 2000 2009
dbSNP: rs1554657940
rs1554657940
EXT1
1 1.000 0.120 8 117812924 splice acceptor variant TGTTGTCGTAGGGCAGAAAACGGCTGCTCATAACCTGGGAGGAAGTAGAAGTAGGCAGTGGGGAGGGAATGA/- delins 0.700 0
dbSNP: rs1554580140
rs1554580140
EXT1
1 1.000 0.120 8 117837105 splice region variant T/G snv 0.700 0
dbSNP: rs1554601502
rs1554601502
EXT1
1 1.000 0.120 8 118110378 inframe deletion ACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGT/- delins 0.700 0