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rs281875332

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281875332(C;G)
Make rs281875332(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position5529331
GeneACTB
is asnp
is mentioned by
dbSNPrs281875332
dbSNP (old)rs281875332
ClinGenrs281875332
ebirs281875332
HLIrs281875332
Exacrs281875332
Gnomadrs281875332
Varsomers281875332
Maprs281875332
PheGenIrs281875332
Biobankrs281875332
1000 genomesrs281875332
hgdprs281875332
ensemblrs281875332
gopubmedrs281875332
geneviewrs281875332
scholarrs281875332
googlers281875332
pharmgkbrs281875332
gwascentralrs281875332
openSNPrs281875332
23andMers281875332
23andMe allrs281875332
SNP Nexus

SNPshotrs281875332
SNPdbers281875332
MSV3drs281875332
GWAS Ctlgrs281875332
Max Magnitude0
ClinVar
Risk rs281875332(G;G) rs281875332(T;T)
Alt rs281875332(G;G) rs281875332(T;T)
Reference Rs281875332(C;C)
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.5568962G>A; NC_000007.13:g.5568962G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC RCV000133564.1, RCV000022441.27, RCV000059718.1,


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