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: rs191579691
rs191579691
NEB
2 0.925 0.080 2 151561212 missense variant C/A;T snv 5.9E-05; 8.4E-06 0.700 1.000 5 2006 2016
dbSNP: rs201553266
rs201553266
NEB
4 0.882 0.080 2 151551738 splice region variant C/T snv 2.8E-05 7.0E-06 0.700 1.000 4 2014 2016
dbSNP: rs375145370
rs375145370
NEB
1 1.000 0.080 2 151630821 splice acceptor variant T/C snv 2.4E-05 4.2E-05 0.700 1.000 3 2012 2017
dbSNP: rs398124167
rs398124167
NEB
1 1.000 0.080 2 151706880 splice donor variant C/A;T snv 9.1E-06; 1.8E-05 0.700 1.000 3 2013 2014
dbSNP: rs878854368
rs878854368
NEB
1 1.000 0.080 2 151646140 frameshift variant GATT/- delins 7.0E-06 0.700 1.000 3 2006 2016
dbSNP: rs1057516758
rs1057516758
NEB
1 1.000 0.080 2 151658088 frameshift variant T/- delins 0.700 1.000 2 2006 2014
dbSNP: rs1475648900
rs1475648900
NEB
1 1.000 0.080 2 151563623 stop gained G/A snv 7.0E-06 0.700 1.000 2 2014 2015
dbSNP: rs375628303
rs375628303
NEB
1 1.000 0.080 2 151679720 splice donor variant C/A;G;T snv 4.0E-06; 4.0E-06; 4.0E-06 0.700 1.000 2 2006 2014
dbSNP: rs398124172
rs398124172
NEB
1 1.000 0.080 2 151643269 frameshift variant CTCGTTTATTT/- del 0.700 1.000 2 2006 2014
dbSNP: rs754369875
rs754369875
NEB
1 1.000 0.080 2 151562694 stop gained G/A snv 4.1E-06 0.700 1.000 2 2012 2014
dbSNP: rs765403861
rs765403861
NEB
1 1.000 0.080 2 151640644 frameshift variant -/ATAG delins 7.0E-06 0.700 1.000 2 2006 2014
dbSNP: rs769345284
rs769345284
NEB
3 0.882 0.280 2 151537898 stop gained G/A snv 3.2E-05 0.700 1.000 2 2014 2016
dbSNP: rs773952935
rs773952935
NEB
1 1.000 0.080 2 151727689 splice donor variant A/G;T snv 4.0E-05 7.0E-06 0.700 1.000 2 2006 2015
dbSNP: rs786204576
rs786204576
NEB
1 1.000 0.080 2 151674475 splice donor variant AC/CA mnv 0.700 1.000 2 2006 2014
dbSNP: rs797045736
rs797045736
NEB
1 1.000 0.080 2 151691859 splice region variant C/A;T snv 7.0E-06 0.700 1.000 2 2011 2011
dbSNP: rs1057516996
rs1057516996
NEB
1 1.000 0.080 2 151650380 splice acceptor variant C/T snv 7.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs1057517360
rs1057517360
NEB
1 1.000 0.080 2 151724952 stop gained G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs1057517977
rs1057517977
NEB
1 1.000 0.080 2 151636283 stop gained G/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs112544116
rs112544116
NEB
1 1.000 0.080 2 151565715 splice donor variant C/A;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs113091511
rs113091511
NEB
1 1.000 0.080 2 151682661 splice donor variant C/G;T snv 4.1E-06 1.4E-05 0.700 1.000 1 2014 2014
dbSNP: rs113326313
rs113326313
NEB
1 1.000 0.080 2 151680023 splice acceptor variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1159756073
rs1159756073
NEB
1 1.000 0.080 2 151678053 frameshift variant TA/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1255445731
rs1255445731
NEB
1 1.000 0.080 2 151633653 splice donor variant C/A;T snv 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs1342507012
rs1342507012
NEB
1 1.000 0.080 2 151674586 splice acceptor variant T/C snv 0.700 1.000 1 2014 2014
dbSNP: rs1371849916
rs1371849916
NEB
1 1.000 0.080 2 151567480 splice acceptor variant C/T snv 0.700 1.000 1 2014 2014