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: rs192366176
rs192366176
SLC26A4
0.925 0.160 7 107700180 splice region variant G/A snv 8.0E-06 1.4E-05
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.700 1.000 7 2005 2016
dbSNP: rs192366176
rs192366176
SLC26A4
0.925 0.160 7 107700180 splice region variant G/A snv 8.0E-06 1.4E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 1 2013 2013
dbSNP: rs192366176
rs192366176
SLC26A4
0.925 0.160 7 107700180 splice region variant G/A snv 8.0E-06 1.4E-05
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs192366176
rs192366176
SLC26A4
0.925 0.160 7 107700180 splice region variant G/A snv 8.0E-06 1.4E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0