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: rs111033200
rs111033200
SLC26A4 ; SLC26A4-AS1
1.000 0.160 7 107663301 stop gained C/A;G snv 1.2E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 1 2014 2014