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: rs1554884733
rs1554884733
VPS13B
1.000 8 99641974 frameshift variant -/GTCC delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 12 1998 2015
dbSNP: rs1554884733
rs1554884733
VPS13B
1.000 8 99641974 frameshift variant -/GTCC delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 1998 2015
dbSNP: rs1554884733
rs1554884733
VPS13B
1.000 8 99641974 frameshift variant -/GTCC delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 12 1998 2015