rs757031141, VPS13B

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.
Chediak-Higashi Syndrome
CUI: C0007965
Disease: Chediak-Higashi Syndrome
14 1.000 0.160 8 99861828 frameshift variant C/- delins 4.5E-06 0.010 1.000 1 2014 2014