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: rs756302731
rs756302731
CEP290
0.851 0.240 12 88083076 frameshift variant CT/- delins 7.1E-06
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 1.000 4 2007 2016