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: rs1057517504
rs1057517504
SLC26A2
4 0.851 0.120 5 149977886 frameshift variant -/GCAGT delins 0.700 0
dbSNP: rs1057517511
rs1057517511
SLC26A2
4 0.851 0.120 5 149981129 frameshift variant -/GTTAT delins 0.700 0
dbSNP: rs1057517471
rs1057517471
SLC26A2
4 0.851 0.120 5 149980903 frameshift variant -/T delins 0.700 0
dbSNP: rs1057517482
rs1057517482
SLC26A2
4 0.851 0.120 5 149981240 frameshift variant A/- delins 0.700 0
dbSNP: rs1057517495
rs1057517495
SLC26A2
4 0.851 0.120 5 149980515 frameshift variant A/- del 0.700 0
dbSNP: rs1057517496
rs1057517496
SLC26A2
4 0.851 0.120 5 149977840 frameshift variant A/- del 0.700 0
dbSNP: rs1057517502
rs1057517502
SLC26A2
4 0.851 0.120 5 149980929 frameshift variant A/- delins 0.700 0
dbSNP: rs386833498
rs386833498
SLC26A2
5 0.851 0.120 5 149981316 frameshift variant A/- delins 0.700 0
dbSNP: rs386833500
rs386833500
SLC26A2
1 1.000 0.120 5 149981576 frameshift variant A/- del 0.700 0
dbSNP: rs886039809
rs886039809
KIAA0586
11 0.807 0.480 14 58498824 frameshift variant A/- del 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: rs886039797
rs886039797
BBS2
7 0.807 0.280 16 56502807 missense variant A/C snv 4.0E-06 0.700 0
dbSNP: rs104893920
rs104893920
SLC26A2
3 0.882 0.120 5 149980866 missense variant A/G snv 0.710 1.000 1 1997 1997
dbSNP: rs886039807
rs886039807
TMEM231
11 0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 0.700 0
dbSNP: rs386833494
rs386833494
SLC26A2
1 1.000 0.120 5 149980834 frameshift variant AAAC/- delins 0.700 0
dbSNP: rs1057517530
rs1057517530
SLC26A2
4 0.851 0.120 5 149981399 frameshift variant AACT/- del 0.700 0
dbSNP: rs1057517513
rs1057517513
SLC26A2
4 0.851 0.120 5 149981586 frameshift variant AC/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1057517474
rs1057517474
SLC26A2
4 0.851 0.120 5 149981546 frameshift variant ACTG/- delins 0.700 0
dbSNP: rs786200881
rs786200881
SLC26A2
4 0.851 0.120 5 149978041 frameshift variant C/- delins 0.700 1.000 1 1996 1996
dbSNP: rs1057517526
rs1057517526
SLC26A2
4 0.851 0.120 5 149980511 frameshift variant C/- del 0.700 0
dbSNP: rs386833502
rs386833502
SLC26A2
1 1.000 0.120 5 149977906 frameshift variant C/- delins 0.700 0
dbSNP: rs762137330
rs762137330
SLC26A2
4 0.851 0.120 5 149981575 frameshift variant C/- del 8.0E-06 0.700 0
dbSNP: rs886039799
rs886039799
BBS9
17 0.763 0.320 7 33273896 frameshift variant C/- del 0.700 0
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: rs1057517514
rs1057517514
SLC26A2
4 0.851 0.120 5 149980339 stop gained C/G snv 0.700 0