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rs11549190

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs11549190(C;T)
Make rs11549190(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position81511586
GeneACTG1
is asnp
is mentioned by
dbSNPrs11549190
ebirs11549190
HLIrs11549190
Exacrs11549190
Varsomers11549190
Maprs11549190
PheGenIrs11549190
hapmaprs11549190
1000 genomesrs11549190
hgdprs11549190
ensemblrs11549190
gopubmedrs11549190
geneviewrs11549190
scholarrs11549190
googlers11549190
pharmgkbrs11549190
gwascentralrs11549190
openSNPrs11549190
23andMers11549190
23andMe allrs11549190
SNP Nexus

SNPshotrs11549190
SNPdbers11549190
MSV3drs11549190
GWAS Ctlgrs11549190
Max Magnitude0
ClinVar
Risk rs11549190(T;T)
Alt rs11549190(T;T)
Reference rs11549190(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.79478612G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000022424.28, RCV000059725.1,


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