Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121909174
rs121909174
SLC5A5
0.925 0.120 19 17881961 missense variant A/C snv 1.2E-05
CUI: C0271826
Disease: Iodide transport defect
Iodide transport defect 		0.020 1.000 2 1998 2000
dbSNP: rs200597118
rs200597118
SLC5A5
1.000 0.120 19 17874151 missense variant G/A snv 3.6E-05 2.0E-04
CUI: C0271826
Disease: Iodide transport defect
Iodide transport defect 		0.010 1.000 1 2006 2006