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rs281875327

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281875327(A;A)
Make rs281875327(A;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position81511382
GeneACTG1
is asnp
is mentioned by
dbSNPrs281875327
ebirs281875327
HLIrs281875327
Exacrs281875327
Varsomers281875327
Maprs281875327
PheGenIrs281875327
hapmaprs281875327
1000 genomesrs281875327
hgdprs281875327
ensemblrs281875327
gopubmedrs281875327
geneviewrs281875327
scholarrs281875327
googlers281875327
pharmgkbrs281875327
gwascentralrs281875327
openSNPrs281875327
23andMers281875327
23andMe allrs281875327
SNP Nexus

SNPshotrs281875327
SNPdbers281875327
MSV3drs281875327
GWAS Ctlgrs281875327
Max Magnitude0
ClinVar
Risk rs281875327(A;A)
Alt rs281875327(A;A)
Reference rs281875327(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.79478408G>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000022425.27, RCV000059727.1,


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