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: rs145254330
rs145254330
SLC26A4
0.925 0.160 7 107672182 missense variant C/T snv 3.3E-04 1.7E-04
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.800 1.000 5 1997 2017