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rs398123563

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123563(A;A)
Make rs398123563(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position229432568
GeneACTA1
is asnp
is mentioned by
dbSNPrs398123563
dbSNP (classic)rs398123563
ClinGenrs398123563
ebirs398123563
HLIrs398123563
Exacrs398123563
Gnomadrs398123563
Varsomers398123563
LitVarrs398123563
Maprs398123563
PheGenIrs398123563
Biobankrs398123563
1000 genomesrs398123563
hgdprs398123563
ensemblrs398123563
geneviewrs398123563
scholarrs398123563
googlers398123563
pharmgkbrs398123563
gwascentralrs398123563
openSNPrs398123563
23andMers398123563
SNPshotrs398123563
SNPdbers398123563
MSV3drs398123563
GWAS Ctlgrs398123563
Max Magnitude0
ClinVar
Risk rs398123563(A;A) rs398123563(C;C)
Alt rs398123563(A;A) rs398123563(C;C)
Reference Rs398123563(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene ACTA1
CLNDBN not provided
Reversed 1
HGVS NC_000001.10:g.229568315C>G; NC_000001.10:g.229568315C>T
CLNSRC HGMD
CLNACC RCV000387173.1, RCV000079465.4,