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 0.160 7 107661725 missense variant C/A;G snv 0.800 1.000 27 1997 2014
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
81 0.851 0.160 7 107661725 missense variant C/A;G snv 0.700 1.000 12 1998 2017
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
283 0.851 0.160 7 107661725 missense variant C/A;G snv 0.010 1.000 1 2006 2006
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.851 0.160 7 107661725 missense variant C/A;G snv 0.010 1.000 1 2006 2006