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rs766951273

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs766951273(C;T)
Make rs766951273(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position8359916
GeneRERE
is asnp
is mentioned by
dbSNPrs766951273
dbSNP (classic)rs766951273
ClinGenrs766951273
ebirs766951273
HLIrs766951273
Exacrs766951273
Gnomadrs766951273
Varsomers766951273
LitVarrs766951273
Maprs766951273
PheGenIrs766951273
Biobankrs766951273
1000 genomesrs766951273
hgdprs766951273
ensemblrs766951273
geneviewrs766951273
scholarrs766951273
googlers766951273
pharmgkbrs766951273
gwascentralrs766951273
openSNPrs766951273
23andMers766951273
SNPshotrs766951273
SNPdbers766951273
MSV3drs766951273
GWAS Ctlgrs766951273
Max Magnitude0
ClinVar
Risk rs766951273(T;T)
Alt rs766951273(T;T)
Reference Rs766951273(C;C)
Significance Pathogenic
Disease Neurodevelopmental disorder with or without anomalies of the brain
Variation info
Gene RERE
CLNDBN Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
Reversed 0
HGVS NC_000001.10:g.8419976C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000225156.1,