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: rs786204450
rs786204450
SLC26A4
1.000 0.160 7 107698042 frameshift variant -/C delins
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 7 2003 2013