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rs281875329

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281875329(C;T)
Make rs281875329(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position81511224
GeneACTG1
is asnp
is mentioned by
dbSNPrs281875329
ebirs281875329
HLIrs281875329
Exacrs281875329
Varsomers281875329
Maprs281875329
PheGenIrs281875329
hapmaprs281875329
1000 genomesrs281875329
hgdprs281875329
ensemblrs281875329
gopubmedrs281875329
geneviewrs281875329
scholarrs281875329
googlers281875329
pharmgkbrs281875329
gwascentralrs281875329
openSNPrs281875329
23andMers281875329
23andMe allrs281875329
SNP Nexus

SNPshotrs281875329
SNPdbers281875329
MSV3drs281875329
GWAS Ctlgrs281875329
Max Magnitude0
ClinVar
Risk rs281875329(A,T;A,T)
Alt rs281875329(A,T;A,T)
Reference rs281875329(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.79478250G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000022427.28, RCV000059730.1,


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