Gene: SLC26A1 ×
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: rs121965020
rs121965020
IDUA ; SLC26A1
6 0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04 0.700 1.000 5 1992 2018
dbSNP: rs121965029
rs121965029
IDUA ; SLC26A1
4 0.851 0.120 4 987916 missense variant G/A snv 9.2E-06 7.0E-06 0.700 0
dbSNP: rs747981483
rs747981483
IDUA ; SLC26A1
1 1.000 0.120 4 987886 missense variant C/T snv 4.2E-06 0.700 0
dbSNP: rs794727239
rs794727239
IDUA ; SLC26A1
1 1.000 0.120 4 987895 missense variant A/C snv 4.2E-06 7.0E-06 0.700 0