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: rs119103290
rs119103290
EXT1
1 1.000 0.120 8 117837146 missense variant G/A snv 0.700 1.000 12 1997 2016
dbSNP: rs119103288
rs119103288
EXT1
1 1.000 0.120 8 117837148 missense variant C/T snv 0.700 1.000 4 1997 2013
dbSNP: rs1554580153
rs1554580153
EXT1
1 1.000 0.120 8 117837172 missense variant G/T snv 0.700 0
dbSNP: rs1563575697
rs1563575697
EXT1
1 1.000 0.120 8 117837175 frameshift variant -/GA ins 0.700 0
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: rs1554601476
rs1554601476
EXT1
1 1.000 0.120 8 118110192 frameshift variant -/T delins 0.700 0
dbSNP: rs1057520608
rs1057520608
EXT1
1 1.000 0.120 8 118110195 stop gained A/T snv 0.700 0
dbSNP: rs1554601481
rs1554601481
EXT1
1 1.000 0.120 8 118110201 frameshift variant G/- delins 0.700 0
dbSNP: rs1563659325
rs1563659325
EXT1
1 1.000 0.120 8 118110207 missense variant C/G snv 0.700 1.000 1 1998 1998
dbSNP: rs1554601483
rs1554601483
EXT1
1 1.000 0.120 8 118110209 missense variant T/C snv 0.800 1.000 8 1997 2001
dbSNP: rs1563659352
rs1563659352
EXT1
1 1.000 0.120 8 118110249 frameshift variant G/- del 0.700 0
dbSNP: rs1554601502
rs1554601502
EXT1
1 1.000 0.120 8 118110378 inframe deletion ACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGT/- delins 0.700 0
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: rs1563659467
rs1563659467
EXT1
1 1.000 0.120 8 118110475 missense variant A/G snv 0.700 1.000 1 2006 2006
dbSNP: rs1563659474
rs1563659474
EXT1
1 1.000 0.120 8 118110504 frameshift variant GA/- delins 0.700 1.000 1 2008 2008
dbSNP: rs886039486
rs886039486
EXT1
1 1.000 0.120 8 118110508 frameshift variant CT/- 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: 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: rs1227875610
rs1227875610
EXT1
1 1.000 0.120 8 118110768 stop gained G/A;C snv 4.0E-06 0.700 0
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