Gene: SLC26A2 ×
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: 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: rs1057517483
rs1057517483
SLC26A2
4 0.851 0.120 5 149978193 stop gained C/T snv 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: rs386833509
rs386833509
SLC26A2
1 1.000 0.120 5 149980496 frameshift variant CT/- delins 0.700 0
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
dbSNP: rs386833496
rs386833496
SLC26A2
1 1.000 0.120 5 149981044 missense variant G/A snv 1.4E-05 0.700 0
dbSNP: rs386833506
rs386833506
SLC26A2
1 1.000 0.120 5 149978148 missense variant G/A 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: 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: rs1057517532
rs1057517532
SLC26A2
4 0.851 0.120 5 149980653 stop gained G/T snv 0.700 0
dbSNP: rs386833503
rs386833503
SLC26A2
1 1.000 0.120 5 149977983 missense variant G/T snv 0.700 0
dbSNP: rs386833507
rs386833507
SLC26A2
2 1.000 0.120 5 149977707 stop gained G/T snv 0.700 0
dbSNP: rs386833508
rs386833508
SLC26A2
1 1.000 0.120 5 149980296 frameshift variant GATGGGC/- delins 0.700 0
dbSNP: rs1057517524
rs1057517524
SLC26A2
4 0.851 0.120 5 149980326 frameshift variant GTCT/- delins 0.700 0
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: rs1057517462
rs1057517462
SLC26A2
4 0.851 0.120 5 149977857 frameshift variant T/- delins 0.700 0
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: rs1057517461
rs1057517461
SLC26A2
4 0.851 0.120 5 149978353 splice donor variant T/C snv 0.700 1.000 1 1999 1999
dbSNP: rs386833492
rs386833492
SLC26A2
5 0.851 0.120 5 149960981 splice donor variant T/C snv 5.4E-04 0.700 0
dbSNP: rs763198695
rs763198695
SLC26A2
5 0.851 0.120 5 149978135 frameshift variant TG/- delins 4.0E-06 7.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs121908077
rs121908077
SLC26A2
5 0.851 0.120 5 149980603 inframe insertion TGTTGT/-;TGT;TGTTGTTGT delins 3.5E-05 0.700 0
dbSNP: rs386833501
rs386833501
SLC26A2
1 1.000 0.120 5 149981713 frameshift variant TT/- del 0.700 0