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: rs121908077
rs121908077
SLC26A2
5 0.851 0.120 5 149980603 inframe insertion TGTTGT/-;TGT;TGTTGTTGT delins 3.5E-05 0.700 1.000 4 1996 2004
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 3 2004 2011
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 3 1996 2011
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 3 2003 2012
dbSNP: rs386833498
rs386833498
SLC26A2
5 0.851 0.120 5 149981316 frameshift variant A/- delins 0.700 1.000 2 1996 1996
dbSNP: rs786204675
rs786204675
SLC26A2
2 1.000 0.080 5 149978101 frameshift variant T/- delins 0.700 1.000 2 1996 2001
dbSNP: rs386833492
rs386833492
SLC26A2
5 0.851 0.120 5 149960981 splice donor variant T/C snv 5.4E-04 0.700 1.000 1 1999 1999
dbSNP: rs386833507
rs386833507
SLC26A2
2 1.000 0.120 5 149977707 stop gained G/T snv 0.700 1.000 1 2001 2001
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: rs766836061
rs766836061
SLC26A2
5 0.851 0.120 5 149981300 stop gained C/G;T snv 4.0E-06 0.700 0