Source: UNIPROT

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: rs386834104
rs386834104
VPS13B
1.000 0.320 8 99720944 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.800 1.000 6 2003 2009