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: 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