rs1559749017, MITF

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.
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.925 0.040 3 69956531 splice donor variant G/A snv 0.700 0
Heterochromia iridis
CUI: C0423318
Disease: Heterochromia iridis
10 0.925 0.040 3 69956531 splice donor variant G/A snv 0.700 0
Waardenburg Syndrome Type 1
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
46 0.925 0.040 3 69956531 splice donor variant G/A snv 0.700 0
WAARDENBURG SYNDROME, TYPE IIA
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
26 0.925 0.040 3 69956531 splice donor variant G/A snv 0.700 0