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: rs1057516988
rs1057516988
SLC26A4
1.000 0.160 7 107674163 splice acceptor variant G/A snv 4.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 4 2007 2015