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rs281875325

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281875325(C;T)
Make rs281875325(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position81511907
GeneACTG1
is asnp
is mentioned by
dbSNPrs281875325
ebirs281875325
HLIrs281875325
Exacrs281875325
Varsomers281875325
Maprs281875325
PheGenIrs281875325
hapmaprs281875325
1000 genomesrs281875325
hgdprs281875325
ensemblrs281875325
gopubmedrs281875325
geneviewrs281875325
scholarrs281875325
googlers281875325
pharmgkbrs281875325
gwascentralrs281875325
openSNPrs281875325
23andMers281875325
23andMe allrs281875325
SNP Nexus

SNPshotrs281875325
SNPdbers281875325
MSV3drs281875325
GWAS Ctlgrs281875325
Max Magnitude0
ClinVar
Risk rs281875325(T;T)
Alt rs281875325(T;T)
Reference rs281875325(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.79478933G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000022423.27, RCV000059723.1,


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