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: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs756718693
rs756718693
EXT1
2 0.925 0.120 8 117799833 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1554656266
rs1554656266
EXT1
1 1.000 0.120 8 117799849 stop gained G/A snv 0.700 1.000 1 2009 2009
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: 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: 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: rs1554657437
rs1554657437
EXT1
1 1.000 0.120 8 117807290 stop gained C/A snv 0.700 1.000 1 2008 2008
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: rs886039356
rs886039356
EXT1
1 1.000 0.120 8 117819743 frameshift variant A/- del 0.700 1.000 1 1995 1995
dbSNP: rs886039355
rs886039355
EXT1
1 1.000 0.120 8 117819744 frameshift variant G/-;GG delins 0.700 1.000 5 2000 2008
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: rs1554578798
rs1554578798
EXT1
1 1.000 0.120 8 117819780 frameshift variant -/G delins 0.700 1.000 3 2009 2014
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: rs1554578992
rs1554578992
EXT1
1 1.000 0.120 8 117822463 splice donor variant A/T snv 0.700 1.000 4 2000 2009
dbSNP: rs1554579004
rs1554579004
EXT1
1 1.000 0.120 8 117822481 frameshift variant G/- del 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: rs11546829
rs11546829
EXT1
1 1.000 0.120 8 117835543 stop gained G/A;T snv 0.26 0.24 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: 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: rs1563575654
rs1563575654
EXT1
1 1.000 0.120 8 117837107 splice donor variant CCTGC/- del 0.700 1.000 3 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