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: rs121908364
rs121908364
0.925 0.160 7 107689166 missense variant C/T snv
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
0.800 1.000 16 1998 2017
dbSNP: rs121908364
rs121908364
0.925 0.160 7 107689166 missense variant C/T snv
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.700 0
dbSNP: rs121908364
rs121908364
0.925 0.160 7 107689166 missense variant C/T snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.010 1.000 1 2010 2010