Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085308033
rs1085308033
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1
CUI: C4479566
Disease:
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
0.800 GeneticVariation UNIPROT
dbSNP: rs1085308033
rs1085308033
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1
CUI: C4479566
Disease:
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
A 0.800 CausalMutation CLINVAR