rs965705838, MITF

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.
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
6 0.925 0.160 3 69939113 missense variant G/A snv 0.010 1.000 1 2017 2017
Hypopigmentation disorder
CUI: C0162835
Disease: Hypopigmentation disorder
15 0.925 0.160 3 69939113 missense variant G/A snv 0.010 1.000 1 2017 2017