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rs587779774

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587779774(C;T)
Make rs587779774(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position5529165
GeneACTB
is asnp
is mentioned by
dbSNPrs587779774
ebirs587779774
HLIrs587779774
Exacrs587779774
Varsomers587779774
Maprs587779774
PheGenIrs587779774
hapmaprs587779774
1000 genomesrs587779774
hgdprs587779774
ensemblrs587779774
gopubmedrs587779774
geneviewrs587779774
scholarrs587779774
googlers587779774
pharmgkbrs587779774
gwascentralrs587779774
openSNPrs587779774
23andMers587779774
23andMe allrs587779774
SNP Nexus

SNPshotrs587779774
SNPdbers587779774
MSV3drs587779774
GWAS Ctlgrs587779774
Max Magnitude0
ClinVar
Risk rs587779774(T;T)
Alt rs587779774(T;T)
Reference rs587779774(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.5568796G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000133571.3,