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: rs1554601525
rs1554601525
EXT1
1 1.000 0.120 8 118110512 frameshift variant -/AC delins 0.700 0
dbSNP: rs1554601507
rs1554601507
EXT1
1 1.000 0.120 8 118110399 frameshift variant -/AGCA delins 0.700 1.000 1 2009 2009
dbSNP: rs1554578798
rs1554578798
EXT1
1 1.000 0.120 8 117819780 frameshift variant -/G delins 0.700 1.000 3 2009 2014
dbSNP: rs1563575697
rs1563575697
EXT1
1 1.000 0.120 8 117837175 frameshift variant -/GA ins 0.700 0
dbSNP: rs1554601476
rs1554601476
EXT1
1 1.000 0.120 8 118110192 frameshift variant -/T delins 0.700 0
dbSNP: rs1563659649
rs1563659649
EXT1
1 1.000 0.120 8 118110764 frameshift variant -/T delins 0.700 0
dbSNP: rs1563571296
rs1563571296
EXT1
1 1.000 0.120 8 117822544 stop gained -/TCCATATTAAACTGTTACGTGAT delins 0.700 0
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: rs886039356
rs886039356
EXT1
1 1.000 0.120 8 117819743 frameshift variant A/- del 0.700 1.000 1 1995 1995
dbSNP: rs1554601526
rs1554601526
EXT1
1 1.000 0.120 8 118110526 frameshift variant A/- delins 0.700 0
dbSNP: rs1563659467
rs1563659467
EXT1
1 1.000 0.120 8 118110475 missense variant A/G snv 0.700 1.000 1 2006 2006
dbSNP: rs1554578992
rs1554578992
EXT1
1 1.000 0.120 8 117822463 splice donor variant A/T snv 0.700 1.000 4 2000 2009
dbSNP: rs1057520608
rs1057520608
EXT1
1 1.000 0.120 8 118110195 stop gained A/T 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: 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: rs1554657437
rs1554657437
EXT1
1 1.000 0.120 8 117807290 stop gained C/A snv 0.700 1.000 1 2008 2008
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
dbSNP: rs886039354
rs886039354
EXT1
1 1.000 0.120 8 117837107 splice donor variant C/A;T snv 0.700 1.000 8 1991 2009
dbSNP: rs1563659325
rs1563659325
EXT1
1 1.000 0.120 8 118110207 missense variant C/G snv 0.700 1.000 1 1998 1998
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: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs119103288
rs119103288
EXT1
1 1.000 0.120 8 117837148 missense variant C/T snv 0.700 1.000 4 1997 2013
dbSNP: rs1563575654
rs1563575654
EXT1
1 1.000 0.120 8 117837107 splice donor variant CCTGC/- del 0.700 1.000 3 2000 2009