rs1553705282, MITF

N. diseases: 1
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 1.000 0.040 3 69959386 frameshift variant A/- del 0.700 0