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rs281875331

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281875331(A;G)
Make rs281875331(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position5529624
GeneACTB
is asnp
is mentioned by
dbSNPrs281875331
ebirs281875331
HLIrs281875331
Exacrs281875331
Varsomers281875331
Maprs281875331
PheGenIrs281875331
hapmaprs281875331
1000 genomesrs281875331
hgdprs281875331
ensemblrs281875331
gopubmedrs281875331
geneviewrs281875331
scholarrs281875331
googlers281875331
pharmgkbrs281875331
gwascentralrs281875331
openSNPrs281875331
23andMers281875331
23andMe allrs281875331
SNP Nexus

SNPshotrs281875331
SNPdbers281875331
MSV3drs281875331
GWAS Ctlgrs281875331
Max Magnitude0
ClinVar
Risk rs281875331(C,G;C,G)
Alt rs281875331(C,G;C,G)
Reference rs281875331(A;A)
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.5569255T>C; NC_000007.13:g.5569255T>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000022442.28, RCV000059719.1, RCV000133569.1,


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