SNIP1, Smad nuclear interacting protein 1, 79753

N. diseases: 45; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906986
rs387906986
Entrez Id: 79753;105378649
Gene Symbol: SNIP1;LOC105378649
SNIP1;LOC105378649
CUI: C3281055
Disease:
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM 		0.800 GeneticVariation UNIPROT Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
dbSNP: rs387906986
rs387906986
Entrez Id: 79753;105378649
Gene Symbol: SNIP1;LOC105378649
SNIP1;LOC105378649
CUI: C3281055
Disease:
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM 		C 0.800 CausalMutation CLINVAR
dbSNP: rs202020647
rs202020647
Entrez Id: 79753
Gene Symbol: SNIP1
SNIP1
CUI: C0376532
Disease:
Epilepsy, Rolandic 		A 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611 2018