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rs121912677

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912677(A;G)
Make rs121912677(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position34793326
GeneACTC1, LOC101928174
is asnp
is mentioned by
dbSNPrs121912677
dbSNP (classic)rs121912677
ClinGenrs121912677
ebirs121912677
HLIrs121912677
Exacrs121912677
Gnomadrs121912677
Varsomers121912677
LitVarrs121912677
Maprs121912677
PheGenIrs121912677
Biobankrs121912677
1000 genomesrs121912677
hgdprs121912677
ensemblrs121912677
geneviewrs121912677
scholarrs121912677
googlers121912677
pharmgkbrs121912677
gwascentralrs121912677
openSNPrs121912677
23andMers121912677
SNPshotrs121912677
SNPdbers121912677
MSV3drs121912677
GWAS Ctlgrs121912677
Max Magnitude0
OMIM102540
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912677(G;G)
Alt rs121912677(G;G)
Reference Rs121912677(A;A)
Significance Pathogenic
Disease Atrial septal defect 5
Variation info
Gene ACTC1 LOC101928174 RP11-814P5.1
CLNDBN Atrial septal defect 5
Reversed 1
HGVS NC_000015.9:g.35085527T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019992.26,