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rs281875334

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281875334(A;A)
Make rs281875334(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position5528496
GeneACTB
is asnp
is mentioned by
dbSNPrs281875334
ebirs281875334
HLIrs281875334
Exacrs281875334
Varsomers281875334
Maprs281875334
PheGenIrs281875334
hapmaprs281875334
1000 genomesrs281875334
hgdprs281875334
ensemblrs281875334
gopubmedrs281875334
geneviewrs281875334
scholarrs281875334
googlers281875334
pharmgkbrs281875334
gwascentralrs281875334
openSNPrs281875334
23andMers281875334
23andMe allrs281875334
SNP Nexus

SNPshotrs281875334
SNPdbers281875334
MSV3drs281875334
GWAS Ctlgrs281875334
Max Magnitude0
ClinVar
Risk rs281875334(A;A)
Alt rs281875334(A;A)
Reference rs281875334(G;G)
Significance Pathogenic
Disease Baraitser-Winter syndrome 1 not provided
Variation info
Gene ACTB
CLNDBN Baraitser-Winter syndrome 1 not provided
Reversed 1
HGVS NC_000007.13:g.5568127C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000022439.29, RCV000059721.1,


[PMID 22366783OA-icon.png] De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.