rs1057517966, MITF

N. diseases: 3
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.
WAARDENBURG SYNDROME, TYPE IIA
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
26 0.925 0.160 3 69959325 stop gained C/T snv 0.700 1.000 1 2018 2018
Congenital sensorineural hearing loss
CUI: C1865866
Disease: Congenital sensorineural hearing loss
17 0.925 0.160 3 69959325 stop gained C/T snv 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.925 0.160 3 69959325 stop gained C/T snv 0.700 0