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: rs111033303
rs111033303
SLC26A4
0.925 0.160 7 107674970 missense variant G/T snv 3.0E-04 3.8E-04
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.800 1.000 25 1997 2014
dbSNP: rs111033303
rs111033303
SLC26A4
0.925 0.160 7 107674970 missense variant G/T snv 3.0E-04 3.8E-04
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.800 1.000 12 1998 2017