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: rs1057517295
rs1057517295
VPS13B
1.000 0.320 8 99096433 splice donor variant G/A;T snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1057517295
rs1057517295
VPS13B
1.000 0.320 8 99096433 splice donor variant G/A;T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0