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rs587779772

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779772(C;C)
Make rs587779772(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position5529217
GeneACTB
is asnp
is mentioned by
dbSNPrs587779772
ebirs587779772
HLIrs587779772
Exacrs587779772
Varsomers587779772
Maprs587779772
PheGenIrs587779772
hapmaprs587779772
1000 genomesrs587779772
hgdprs587779772
ensemblrs587779772
gopubmedrs587779772
geneviewrs587779772
scholarrs587779772
googlers587779772
pharmgkbrs587779772
gwascentralrs587779772
openSNPrs587779772
23andMers587779772
23andMe allrs587779772
SNP Nexus

SNPshotrs587779772
SNPdbers587779772
MSV3drs587779772
GWAS Ctlgrs587779772
Max Magnitude0
ClinVar
Risk rs587779772(C;C)
Alt rs587779772(C;C)
Reference rs587779772(G;G)
Significance Pathogenic
Disease Baraitser-Winter syndrome 1
Variation info
Gene ACTB
CLNDBN Baraitser-Winter syndrome 1
Reversed 1
HGVS NC_000007.13:g.5568848C>G
CLNSRC
CLNACC RCV000133568.1,