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: rs111033348
rs111033348
SLC26A4
0.925 0.160 7 107674326 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.810 1.000 24 1997 2016
dbSNP: rs111033348
rs111033348
SLC26A4
0.925 0.160 7 107674326 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.700 1.000 5 2000 2017
dbSNP: rs111033348
rs111033348
SLC26A4
0.925 0.160 7 107674326 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0