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rs387907270

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387907270(A;G)
Make rs387907270(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position26406264
GeneRBPJ
is asnp
is mentioned by
dbSNPrs387907270
dbSNP (classic)rs387907270
ClinGenrs387907270
ebirs387907270
HLIrs387907270
Exacrs387907270
Gnomadrs387907270
Varsomers387907270
LitVarrs387907270
Maprs387907270
PheGenIrs387907270
Biobankrs387907270
1000 genomesrs387907270
hgdprs387907270
ensemblrs387907270
geneviewrs387907270
scholarrs387907270
googlers387907270
pharmgkbrs387907270
gwascentralrs387907270
openSNPrs387907270
23andMers387907270
SNPshotrs387907270
SNPdbers387907270
MSV3drs387907270
GWAS Ctlgrs387907270
Max Magnitude0
ClinVar
Risk rs387907270(G;G)
Alt rs387907270(G;G)
Reference Rs387907270(A;A)
Significance Pathogenic
Disease Adams-Oliver syndrome 3
Variation info
Gene RBPJ
CLNDBN Adams-Oliver syndrome 3
Reversed 0
HGVS NC_000004.11:g.26407886A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000030707.25,