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: rs542620119
rs542620119
SLC26A4
0.925 0.160 7 107674302 missense variant G/C snv 9.1E-05 3.5E-05
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.700 1.000 12 1998 2017
dbSNP: rs542620119
rs542620119
SLC26A4
0.925 0.160 7 107674302 missense variant G/C snv 9.1E-05 3.5E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 3 2010 2013