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rs587779776

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587779776(C;G)
Make rs587779776(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position5528472
GeneACTB
is asnp
is mentioned by
dbSNPrs587779776
ebirs587779776
HLIrs587779776
Exacrs587779776
Varsomers587779776
Maprs587779776
PheGenIrs587779776
hapmaprs587779776
1000 genomesrs587779776
hgdprs587779776
ensemblrs587779776
gopubmedrs587779776
geneviewrs587779776
scholarrs587779776
googlers587779776
pharmgkbrs587779776
gwascentralrs587779776
openSNPrs587779776
23andMers587779776
23andMe allrs587779776
SNP Nexus

SNPshotrs587779776
SNPdbers587779776
MSV3drs587779776
GWAS Ctlgrs587779776
Max Magnitude0
ClinVar
Risk rs587779776(G;G)
Alt rs587779776(G;G)
Reference rs587779776(C;C)
Significance Pathogenic
Disease Baraitser-Winter syndrome 1
Variation info
Gene ACTB
CLNDBN Baraitser-Winter syndrome 1
Reversed 1
HGVS NC_000007.13:g.5568103G>C
CLNSRC
CLNACC RCV000133574.1,