rs121908106, MYO5B

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.
Microvillus inclusion disease
CUI: C0341306
Disease: Microvillus inclusion disease
16 0.925 0.200 18 49936276 missense variant G/A snv 4.3E-06 0.820 1.000 7 2008 2018
Cholestasis
CUI: C0008370
Disease: Cholestasis
15 0.925 0.200 18 49936276 missense variant G/A snv 4.3E-06 0.010 1.000 1 2019 2019