rs80338848, 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 107675051 missense variant T/C snv 2.7E-04 3.4E-04 0.810 1.000 21 1997 2019
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 107675051 missense variant T/C snv 2.7E-04 3.4E-04 0.800 1.000 12 1998 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.240 7 107675051 missense variant T/C snv 2.7E-04 3.4E-04 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.851 0.240 7 107675051 missense variant T/C snv 2.7E-04 3.4E-04 0.700 0
Circling gait
CUI: C0231706
Disease: Circling gait
1 0.851 0.240 7 107675051 missense variant T/C snv 2.7E-04 3.4E-04 0.010 1.000 1 2019 2019
Torticollis
CUI: C0040485
Disease: Torticollis
10 0.851 0.240 7 107675051 missense variant T/C snv 2.7E-04 3.4E-04 0.010 1.000 1 2019 2019