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: rs121965029
rs121965029
IDUA ; SLC26A1
4 0.851 0.120 4 987916 missense variant G/A snv 9.2E-06 7.0E-06 0.730 1.000 10 1993 2019
dbSNP: rs754966840
rs754966840
IDUA ; SLC26A1
2 0.925 0.120 4 987915 missense variant C/T snv 1.4E-05 0.700 1.000 8 1993 2015
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 3 1992 2013
dbSNP: rs780165694
rs780165694
IDUA ; SLC26A1
1 1.000 0.120 4 987877 missense variant A/G snv 1.2E-05 0.700 0
dbSNP: rs794726878
rs794726878
IDUA ; SLC26A1
2 0.925 0.120 4 987137 missense variant T/C snv 7.0E-06 0.700 0