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: rs370588279
rs370588279
SLC26A4 ; SLC26A4-AS1
0.925 0.160 7 107663400 stop gained C/A;T snv 4.0E-06; 2.0E-05
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.800 1.000 13 1998 2017
dbSNP: rs370588279
rs370588279
SLC26A4 ; SLC26A4-AS1
0.925 0.160 7 107663400 stop gained C/A;T snv 4.0E-06; 2.0E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.710 1.000 4 2003 2010