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: rs111033307
rs111033307
SLC26A4
0.851 0.240 7 107694473 missense variant T/G snv 1.0E-04 7.7E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.820 1.000 23 1997 2013
dbSNP: rs111033307
rs111033307
SLC26A4
0.851 0.240 7 107694473 missense variant T/G snv 1.0E-04 7.7E-05
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.800 1.000 22 1998 2018
dbSNP: rs111033307
rs111033307
SLC26A4
0.851 0.240 7 107694473 missense variant T/G snv 1.0E-04 7.7E-05
CUI: C0018021
Disease: Goiter
Goiter 		0.010 1.000 1 2009 2009
dbSNP: rs111033307
rs111033307
SLC26A4
0.851 0.240 7 107694473 missense variant T/G snv 1.0E-04 7.7E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.010 1.000 1 2009 2009
dbSNP: rs111033307
rs111033307
SLC26A4
0.851 0.240 7 107694473 missense variant T/G snv 1.0E-04 7.7E-05
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.010 1.000 1 2019 2019
dbSNP: rs111033307
rs111033307
SLC26A4
0.851 0.240 7 107694473 missense variant T/G snv 1.0E-04 7.7E-05
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.010 1.000 1 2019 2019