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: rs1554359670
rs1554359670
SLC26A4
0.925 0.160 7 107694650 missense variant C/A snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 3 2003 2014