Have questions? Visit https://www.reddit.com/r/SNPedia

rs587779770

From SNPedia

Orientationminus
Stabilizedminus
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
dbSNP (classic)rs587779770
ClinGenrs587779770
ebirs587779770
HLIrs587779770
Exacrs587779770
Gnomadrs587779770
Varsomers587779770
LitVarrs587779770
Maprs587779770
PheGenIrs587779770
Biobankrs587779770
1000 genomesrs587779770
hgdprs587779770
ensemblrs587779770
geneviewrs587779770
scholarrs587779770
googlers587779770
pharmgkbrs587779770
gwascentralrs587779770
openSNPrs587779770
23andMers587779770
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 not provided
Variation info
Gene ACTB
CLNDBN Baraitser-Winter syndrome 1 not provided
Reversed 1
HGVS NC_000007.13:g.5568935C>T
CLNSRC
CLNACC RCV000133566.1, RCV000327760.1,