rs431905518, SLC26A5

N. diseases: 2
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.
DEAFNESS, AUTOSOMAL RECESSIVE 61
CUI: C3151230
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 61
2 0.925 0.120 7 103420821 stop gained C/T snv 0.700 0
Sensorineural hearing loss, bilateral
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
30 0.925 0.120 7 103420821 stop gained C/T snv 0.010 1.000 1 2016 2016