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rs281875328

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281875328(C;T)
Make rs281875328(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position81511230
GeneACTG1
is asnp
is mentioned by
dbSNPrs281875328
ebirs281875328
HLIrs281875328
Exacrs281875328
Varsomers281875328
Maprs281875328
PheGenIrs281875328
hapmaprs281875328
1000 genomesrs281875328
hgdprs281875328
ensemblrs281875328
gopubmedrs281875328
geneviewrs281875328
scholarrs281875328
googlers281875328
pharmgkbrs281875328
gwascentralrs281875328
openSNPrs281875328
23andMers281875328
23andMe allrs281875328
SNP Nexus

SNPshotrs281875328
SNPdbers281875328
MSV3drs281875328
GWAS Ctlgrs281875328
Max Magnitude0
ClinVar
Risk rs281875328(A,T;A,T)
Alt rs281875328(A,T;A,T)
Reference rs281875328(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.79478256G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000022426.28, RCV000059729.1,


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