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: rs386834055
rs386834055
VPS13B
0.925 0.320 8 99853469 frameshift variant -/A delins
CUI: C0009806
Disease: Constipation
Constipation 		0.700 0