Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777145
rs587777145
0.925 0.040 8 67158463 frameshift variant AAGA/- delins
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
Pathological Conditions, Signs and Symptoms 0.700 0