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: rs111033254
rs111033254
SLC26A4
1.000 0.160 7 107698085 missense variant T/C snv 2.0E-05 2.1E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.800 1.000 20 1997 2014