Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs757031141
rs757031141
VPS13B
1.000 0.160 8 99861828 frameshift variant C/- delins 4.5E-06
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome 		0.010 1.000 1 2014 2014