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rs587779769

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587779769(C;T)
Make rs587779769(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position5529315
GeneACTB
is asnp
is mentioned by
dbSNPrs587779769
ebirs587779769
HLIrs587779769
Exacrs587779769
Varsomers587779769
Maprs587779769
PheGenIrs587779769
hapmaprs587779769
1000 genomesrs587779769
hgdprs587779769
ensemblrs587779769
gopubmedrs587779769
geneviewrs587779769
scholarrs587779769
googlers587779769
pharmgkbrs587779769
gwascentralrs587779769
openSNPrs587779769
23andMers587779769
23andMe allrs587779769
SNP Nexus

SNPshotrs587779769
SNPdbers587779769
MSV3drs587779769
GWAS Ctlgrs587779769
Max Magnitude0
ClinVar
Risk rs587779769(T;T)
Alt rs587779769(T;T)
Reference rs587779769(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.5568946G>A
CLNSRC
CLNACC RCV000133565.1,