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rs587779771

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587779771(C;C)
Make rs587779771(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position5529300
GeneACTB
is asnp
is mentioned by
dbSNPrs587779771
ebirs587779771
HLIrs587779771
Exacrs587779771
Varsomers587779771
Maprs587779771
PheGenIrs587779771
hapmaprs587779771
1000 genomesrs587779771
hgdprs587779771
ensemblrs587779771
gopubmedrs587779771
geneviewrs587779771
scholarrs587779771
googlers587779771
pharmgkbrs587779771
gwascentralrs587779771
openSNPrs587779771
23andMers587779771
23andMe allrs587779771
SNP Nexus

SNPshotrs587779771
SNPdbers587779771
MSV3drs587779771
GWAS Ctlgrs587779771
Max Magnitude0
ClinVar
Risk rs587779771(C;C)
Alt rs587779771(C;C)
Reference rs587779771(T;T)
Significance Pathogenic
Disease Baraitser-Winter syndrome 1
Variation info
Gene ACTB
CLNDBN Baraitser-Winter syndrome 1
Reversed 1
HGVS NC_000007.13:g.5568931A>G
CLNSRC
CLNACC RCV000133567.1,