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: rs104893915
rs104893915
SLC26A2
10 0.776 0.200 5 149980428 missense variant C/T snv 9.8E-04 1.0E-03 0.750 1.000 18 1996 2016
dbSNP: rs104893924
rs104893924
SLC26A2
5 0.851 0.120 5 149981550 missense variant T/A snv 1.1E-04 1.3E-04 0.700 1.000 8 2001 2012
dbSNP: rs104893918
rs104893918
SLC26A2
4 0.851 0.120 5 149981737 missense variant C/T snv 3.6E-05 2.8E-05 0.700 1.000 5 1996 2012
dbSNP: rs104893919
rs104893919
SLC26A2
5 0.851 0.120 5 149978184 stop gained C/T snv 1.3E-04 1.2E-04 0.700 1.000 5 1996 2011
dbSNP: rs766836061
rs766836061
SLC26A2
5 0.851 0.120 5 149981300 stop gained C/G;T snv 4.0E-06 0.700 1.000 2 1996 1996
dbSNP: rs104893920
rs104893920
SLC26A2
3 0.882 0.120 5 149980866 missense variant A/G snv 0.710 1.000 1 1997 1997
dbSNP: rs1057517461
rs1057517461
SLC26A2
4 0.851 0.120 5 149978353 splice donor variant T/C snv 0.700 1.000 1 1999 1999
dbSNP: rs121908078
rs121908078
SLC26A2
2 0.925 0.120 5 149981128 missense variant C/A snv 4.8E-05 7.0E-06 0.710 1.000 1 2008 2008
dbSNP: rs766335907
rs766335907
COMP
4 0.851 0.200 19 18787632 missense variant G/A;T snv 8.0E-06; 8.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs104893916
rs104893916
SLC26A2
3 0.882 0.120 5 149981626 missense variant G/T snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs104893921
rs104893921
SLC26A2
2 0.925 0.120 5 149980954 missense variant A/C snv 7.0E-06 0.700 0
dbSNP: rs1057517483
rs1057517483
SLC26A2
4 0.851 0.120 5 149978193 stop gained C/T snv 0.700 0
dbSNP: rs1057517514
rs1057517514
SLC26A2
4 0.851 0.120 5 149980339 stop gained C/G snv 0.700 0
dbSNP: rs1057517523
rs1057517523
SLC26A2
4 0.851 0.120 5 149977837 stop gained C/G snv 0.700 0
dbSNP: rs1057517532
rs1057517532
SLC26A2
4 0.851 0.120 5 149980653 stop gained G/T snv 0.700 0
dbSNP: rs200963884
rs200963884
SLC26A2
2 0.925 0.120 5 149980292 splice acceptor variant G/C snv 4.9E-05 0.700 0
dbSNP: rs267607055
rs267607055
SLC26A2
1 1.000 0.120 5 149978050 missense variant C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs386833492
rs386833492
SLC26A2
5 0.851 0.120 5 149960981 splice donor variant T/C snv 5.4E-04 0.700 0
dbSNP: rs386833493
rs386833493
SLC26A2
1 1.000 0.120 5 149980750 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs386833496
rs386833496
SLC26A2
1 1.000 0.120 5 149981044 missense variant G/A snv 1.4E-05 0.700 0
dbSNP: rs386833503
rs386833503
SLC26A2
1 1.000 0.120 5 149977983 missense variant G/T snv 0.700 0
dbSNP: rs386833505
rs386833505
SLC26A2
1 1.000 0.120 5 149977699 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs386833506
rs386833506
SLC26A2
1 1.000 0.120 5 149978148 missense variant G/A snv 0.700 0
dbSNP: rs386833507
rs386833507
SLC26A2
2 1.000 0.120 5 149977707 stop gained G/T snv 0.700 0
dbSNP: rs751375244
rs751375244
TRAPPC3
6 0.827 0.280 1 36139776 missense variant G/A snv 1.2E-05 3.5E-05 0.700 0