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rs587779773

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587779773(C;C)
Make rs587779773(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position5529168
GeneACTB
is asnp
is mentioned by
dbSNPrs587779773
ebirs587779773
HLIrs587779773
Exacrs587779773
Varsomers587779773
Maprs587779773
PheGenIrs587779773
hapmaprs587779773
1000 genomesrs587779773
hgdprs587779773
ensemblrs587779773
gopubmedrs587779773
geneviewrs587779773
scholarrs587779773
googlers587779773
pharmgkbrs587779773
gwascentralrs587779773
openSNPrs587779773
23andMers587779773
23andMe allrs587779773
SNP Nexus

SNPshotrs587779773
SNPdbers587779773
MSV3drs587779773
GWAS Ctlgrs587779773
Max Magnitude0
ClinVar
Risk rs587779773(C;C)
Alt rs587779773(C;C)
Reference rs587779773(T;T)
Significance Pathogenic
Disease Baraitser-Winter syndrome 1
Variation info
Gene ACTB
CLNDBN Baraitser-Winter syndrome 1
Reversed 1
HGVS NC_000007.13:g.5568799A>G
CLNSRC
CLNACC RCV000133570.1,