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: 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: rs1057517513
rs1057517513
SLC26A2
4 0.851 0.120 5 149981586 frameshift variant AC/- delins 0.700 1.000 1 2015 2015
dbSNP: rs386833495
rs386833495
SLC26A2
4 0.851 0.120 5 149980984 frameshift variant T/- delins 0.700 1.000 1 2001 2001
dbSNP: rs386833499
rs386833499
SLC26A2
4 0.851 0.120 5 149981565 frameshift variant T/- delins 0.700 1.000 1 2001 2001
dbSNP: rs786200881
rs786200881
SLC26A2
4 0.851 0.120 5 149978041 frameshift variant C/- delins 0.700 1.000 1 1996 1996
dbSNP: rs104893921
rs104893921
SLC26A2
2 0.925 0.120 5 149980954 missense variant A/C snv 7.0E-06 0.700 0
dbSNP: rs1057517462
rs1057517462
SLC26A2
4 0.851 0.120 5 149977857 frameshift variant T/- delins 0.700 0
dbSNP: rs1057517471
rs1057517471
SLC26A2
4 0.851 0.120 5 149980903 frameshift variant -/T delins 0.700 0
dbSNP: rs1057517474
rs1057517474
SLC26A2
4 0.851 0.120 5 149981546 frameshift variant ACTG/- delins 0.700 0
dbSNP: rs1057517482
rs1057517482
SLC26A2
4 0.851 0.120 5 149981240 frameshift variant A/- delins 0.700 0
dbSNP: rs1057517483
rs1057517483
SLC26A2
4 0.851 0.120 5 149978193 stop gained C/T snv 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: 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: 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: rs1057517524
rs1057517524
SLC26A2
4 0.851 0.120 5 149980326 frameshift variant GTCT/- delins 0.700 0
dbSNP: rs1057517526
rs1057517526
SLC26A2
4 0.851 0.120 5 149980511 frameshift variant C/- del 0.700 0
dbSNP: rs1057517530
rs1057517530
SLC26A2
4 0.851 0.120 5 149981399 frameshift variant AACT/- del 0.700 0
dbSNP: rs1057517532
rs1057517532
SLC26A2
4 0.851 0.120 5 149980653 stop gained G/T snv 0.700 0
dbSNP: rs121908077
rs121908077
SLC26A2
5 0.851 0.120 5 149980603 inframe insertion TGTTGT/-;TGT;TGTTGTTGT delins 3.5E-05 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