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rs281875326

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281875326(C;T)
Make rs281875326(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position81511526
GeneACTG1
is asnp
is mentioned by
dbSNPrs281875326
ebirs281875326
HLIrs281875326
Exacrs281875326
Varsomers281875326
Maprs281875326
PheGenIrs281875326
hapmaprs281875326
1000 genomesrs281875326
hgdprs281875326
ensemblrs281875326
gopubmedrs281875326
geneviewrs281875326
scholarrs281875326
googlers281875326
pharmgkbrs281875326
gwascentralrs281875326
openSNPrs281875326
23andMers281875326
23andMe allrs281875326
SNP Nexus

SNPshotrs281875326
SNPdbers281875326
MSV3drs281875326
GWAS Ctlgrs281875326
Max Magnitude0
ClinVar
Risk rs281875326(T;T)
Alt rs281875326(T;T)
Reference rs281875326(C;C)
Significance Pathogenic
Disease Baraitser-Winter Syndrome 2 not provided
Variation info
Gene ACTG1
CLNDBN Baraitser-Winter Syndrome 2 not provided
Reversed 1
HGVS NC_000017.10:g.79478552G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000022422.29, RCV000059726.1,


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