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: rs121908361
rs121908361
SLC26A4
0.882 0.160 7 107689156 stop gained A/G;T snv
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.800 1.000 16 1998 2017
dbSNP: rs121908361
rs121908361
SLC26A4
0.882 0.160 7 107689156 stop gained A/G;T snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.710 1.000 2 2010 2015
dbSNP: rs121908361
rs121908361
SLC26A4
0.882 0.160 7 107689156 stop gained A/G;T snv
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.010 1.000 1 2015 2015