Source: CLINVAR

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: rs111033256
rs111033256
SLC26A4
0.882 0.160 7 107675060 missense variant T/A snv 2.0E-04 3.5E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.810 1.000 8 1997 2013