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rs587780273

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587780273(A;A)
Make rs587780273(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position5529594
GeneACTB
is asnp
is mentioned by
dbSNPrs587780273
ebirs587780273
HLIrs587780273
Exacrs587780273
Varsomers587780273
Maprs587780273
PheGenIrs587780273
hapmaprs587780273
1000 genomesrs587780273
hgdprs587780273
ensemblrs587780273
gopubmedrs587780273
geneviewrs587780273
scholarrs587780273
googlers587780273
pharmgkbrs587780273
gwascentralrs587780273
openSNPrs587780273
23andMers587780273
23andMe allrs587780273
SNP Nexus

SNPshotrs587780273
SNPdbers587780273
MSV3drs587780273
GWAS Ctlgrs587780273
Max Magnitude0
ClinVar
Risk rs587780273(A;A)
Alt rs587780273(A;A)
Reference rs587780273(G;G)
Significance Probable-Pathogenic
Disease Baraitser-Winter syndrome 1
Variation info
Gene ACTB
CLNDBN Baraitser-Winter syndrome 1
Reversed 1
HGVS NC_000007.13:g.5569225C>T
CLNSRC
CLNACC RCV000116223.1,