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rs397515470

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515470(A;A)
Make rs397515470(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position5529175
GeneACTB
is asnp
is mentioned by
dbSNPrs397515470
ebirs397515470
HLIrs397515470
Exacrs397515470
Varsomers397515470
Maprs397515470
PheGenIrs397515470
hapmaprs397515470
1000 genomesrs397515470
hgdprs397515470
ensemblrs397515470
gopubmedrs397515470
geneviewrs397515470
scholarrs397515470
googlers397515470
pharmgkbrs397515470
gwascentralrs397515470
openSNPrs397515470
23andMers397515470
23andMe allrs397515470
SNP Nexus

SNPshotrs397515470
SNPdbers397515470
MSV3drs397515470
GWAS Ctlgrs397515470
Max Magnitude0
ClinVar
Risk rs397515470(A;A)
Alt rs397515470(A;A)
Reference rs397515470(G;G)
Significance Pathogenic
Disease Baraitser-Winter syndrome 1
Variation info
Gene ACTB
CLNDBN Baraitser-Winter syndrome 1
Reversed 1
HGVS NC_000007.13:g.5568806C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000056289.27,