rs121908362, SLC26A4

N. diseases: 5
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 0.882 0.280 7 107710132 missense variant A/G snv 1.2E-04 3.5E-05 0.820 1.000 23 1997 2014
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
81 0.882 0.280 7 107710132 missense variant A/G snv 1.2E-04 3.5E-05 0.800 1.000 13 1998 2017
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.882 0.280 7 107710132 missense variant A/G snv 1.2E-04 3.5E-05 0.700 0
Hearing Loss
CUI: C3887873
Disease: Hearing Loss
61 0.882 0.280 7 107710132 missense variant A/G snv 1.2E-04 3.5E-05 0.700 0
Nodular Sclerosis Classical Hodgkin Lymphoma
CUI: C0152268
Disease: Nodular Sclerosis Classical Hodgkin Lymphoma
22 0.882 0.280 7 107710132 missense variant A/G snv 1.2E-04 3.5E-05 0.020 1.000 2 2013 2017