rs28939086, SLC26A4

N. diseases: 4
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 0.925 0.160 7 107690220 missense variant A/C;G snv 2.0E-04; 4.0E-06 0.810 1.000 21 1997 2013
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
81 0.925 0.160 7 107690220 missense variant A/C;G snv 2.0E-04; 4.0E-06 0.800 1.000 24 1998 2019
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 0.925 0.160 7 107690220 missense variant A/C;G snv 2.0E-04; 4.0E-06 0.010 1.000 1 2018 2018
Goiter
CUI: C0018021
Disease: Goiter
19 0.925 0.160 7 107690220 missense variant A/C;G snv 2.0E-04; 4.0E-06 0.010 1.000 1 2004 2004