rs111033307, SLC26A4

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Pendred's syndrome
CUI: C0271829
Disease: Pendred's syndrome
142 0.851 0.240 7 107694473 missense variant T/G snv 1.0E-04 7.7E-05 0.820 1.000 23 1997 2013
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
81 0.851 0.240 7 107694473 missense variant T/G snv 1.0E-04 7.7E-05 0.800 1.000 22 1998 2018
Congenital ichthyosis
CUI: C0020758
Disease: Congenital ichthyosis
11 0.851 0.240 7 107694473 missense variant T/G snv 1.0E-04 7.7E-05 0.010 1.000 1 2019 2019
Goiter
CUI: C0018021
Disease: Goiter
19 0.851 0.240 7 107694473 missense variant T/G snv 1.0E-04 7.7E-05 0.010 1.000 1 2009 2009
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.851 0.240 7 107694473 missense variant T/G snv 1.0E-04 7.7E-05 0.010 1.000 1 2009 2009
Ichthyoses
CUI: C0020757
Disease: Ichthyoses
18 0.851 0.240 7 107694473 missense variant T/G snv 1.0E-04 7.7E-05 0.010 1.000 1 2019 2019