Have questions? Visit https://www.reddit.com/r/SNPedia

rs387907271

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387907271(A;G)
Make rs387907271(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position26420695
GeneRBPJ
is asnp
is mentioned by
dbSNPrs387907271
ebirs387907271
HLIrs387907271
Exacrs387907271
Varsomers387907271
Maprs387907271
PheGenIrs387907271
hapmaprs387907271
1000 genomesrs387907271
hgdprs387907271
ensemblrs387907271
gopubmedrs387907271
geneviewrs387907271
scholarrs387907271
googlers387907271
pharmgkbrs387907271
gwascentralrs387907271
openSNPrs387907271
23andMers387907271
23andMe allrs387907271
SNP Nexus

SNPshotrs387907271
SNPdbers387907271
MSV3drs387907271
GWAS Ctlgrs387907271
Max Magnitude0
ClinVar
Risk rs387907271(G;G)
Alt rs387907271(G;G)
Reference Rs387907271(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.26422317A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000030708.25,