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: rs1057516636
rs1057516636
SLC26A4
1.000 0.160 7 107701988 frameshift variant C/- delins
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 0