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rs587779770

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779770(A;A)
Make rs587779770(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position5529304
GeneACTB
is asnp
is mentioned by
dbSNPrs587779770
ebirs587779770
HLIrs587779770
Exacrs587779770
Varsomers587779770
Maprs587779770
PheGenIrs587779770
hapmaprs587779770
1000 genomesrs587779770
hgdprs587779770
ensemblrs587779770
gopubmedrs587779770
geneviewrs587779770
scholarrs587779770
googlers587779770
pharmgkbrs587779770
gwascentralrs587779770
openSNPrs587779770
23andMers587779770
23andMe allrs587779770
SNP Nexus

SNPshotrs587779770
SNPdbers587779770
MSV3drs587779770
GWAS Ctlgrs587779770
Max Magnitude0
ClinVar
Risk rs587779770(A;A)
Alt rs587779770(A;A)
Reference rs587779770(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.5568935C>T
CLNSRC
CLNACC RCV000133566.1,