Source: CLINVAR

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: rs386834061
rs386834061
VPS13B
0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 1.000 3 2004 2015