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: 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: rs386833492
rs386833492
SLC26A2
5 0.851 0.120 5 149960981 splice donor variant T/C snv 5.4E-04 0.700 0
dbSNP: rs386833498
rs386833498
SLC26A2
5 0.851 0.120 5 149981316 frameshift variant A/- 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: rs104893915
rs104893915
SLC26A2
10 0.776 0.200 5 149980428 missense variant C/T snv 9.8E-04 1.0E-03 0.700 1.000 8 1996 2010
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: rs386833497
rs386833497
SLC26A2
4 0.851 0.120 5 149981243 frameshift variant G/- del 8.0E-06 2.8E-05 0.700 1.000 5 2001 2010