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rs797044950

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797044950(C;G)
Make rs797044950(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position5528546
GeneACTB
is asnp
is mentioned by
dbSNPrs797044950
dbSNP (classic)rs797044950
ClinGenrs797044950
ebirs797044950
HLIrs797044950
Exacrs797044950
Gnomadrs797044950
Varsomers797044950
LitVarrs797044950
Maprs797044950
PheGenIrs797044950
Biobankrs797044950
1000 genomesrs797044950
hgdprs797044950
ensemblrs797044950
geneviewrs797044950
scholarrs797044950
googlers797044950
pharmgkbrs797044950
gwascentralrs797044950
openSNPrs797044950
23andMers797044950
SNPshotrs797044950
SNPdbers797044950
MSV3drs797044950
GWAS Ctlgrs797044950
Max Magnitude0
ClinVar
Risk rs797044950(G;G)
Alt rs797044950(G;G)
Reference Rs797044950(C;C)
Significance Pathogenic
Disease Inborn genetic diseases
Variation info
Gene ACTB
CLNDBN Inborn genetic diseases
Reversed 1
HGVS NC_000007.13:g.5568177G>C
CLNSRC
CLNACC RCV000190802.1,