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rs368352689

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs368352689(C;G)
Make rs368352689(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position5527786
GeneACTB
is asnp
is mentioned by
dbSNPrs368352689
ebirs368352689
HLIrs368352689
Exacrs368352689
Varsomers368352689
Maprs368352689
PheGenIrs368352689
hapmaprs368352689
1000 genomesrs368352689
hgdprs368352689
ensemblrs368352689
gopubmedrs368352689
geneviewrs368352689
scholarrs368352689
googlers368352689
pharmgkbrs368352689
gwascentralrs368352689
openSNPrs368352689
23andMers368352689
23andMe allrs368352689
SNP Nexus

SNPshotrs368352689
SNPdbers368352689
MSV3drs368352689
GWAS Ctlgrs368352689
Max Magnitude0
ClinVar
Risk rs368352689(G;G)
Alt rs368352689(G;G)
Reference rs368352689(C;C)
Significance Pathogenic
Disease Baraitser-Winter syndrome 1
Variation info
Gene ACTB
CLNDBN Baraitser-Winter syndrome 1
Reversed 0
HGVS NC_000007.13:g.5567417C>T
CLNSRC
CLNACC RCV000202367.1,