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rs587779775

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587779775(C;T)
Make rs587779775(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position5528637
GeneACTB
is asnp
is mentioned by
dbSNPrs587779775
ebirs587779775
HLIrs587779775
Exacrs587779775
Varsomers587779775
Maprs587779775
PheGenIrs587779775
hapmaprs587779775
1000 genomesrs587779775
hgdprs587779775
ensemblrs587779775
gopubmedrs587779775
geneviewrs587779775
scholarrs587779775
googlers587779775
pharmgkbrs587779775
gwascentralrs587779775
openSNPrs587779775
23andMers587779775
23andMe allrs587779775
SNP Nexus

SNPshotrs587779775
SNPdbers587779775
MSV3drs587779775
GWAS Ctlgrs587779775
Max Magnitude0
ClinVar
Risk rs587779775(T;T)
Alt rs587779775(T;T)
Reference rs587779775(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.5568268G>A
CLNSRC
CLNACC RCV000133572.1,