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rs730880409

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs730880409(C;C)
Make rs730880409(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position34792524
GeneACTC1, LOC101928174
is asnp
is mentioned by
dbSNPrs730880409
dbSNP (classic)rs730880409
ClinGenrs730880409
ebirs730880409
HLIrs730880409
Exacrs730880409
Gnomadrs730880409
Varsomers730880409
LitVarrs730880409
Maprs730880409
PheGenIrs730880409
Biobankrs730880409
1000 genomesrs730880409
hgdprs730880409
ensemblrs730880409
geneviewrs730880409
scholarrs730880409
googlers730880409
pharmgkbrs730880409
gwascentralrs730880409
openSNPrs730880409
23andMers730880409
SNPshotrs730880409
SNPdbers730880409
MSV3drs730880409
GWAS Ctlgrs730880409
Max Magnitude0
ClinVar
Risk rs730880409(C;C)
Alt rs730880409(C;C)
Reference Rs730880409(T;T)
Significance Probable-Pathogenic
Disease not provided not specified Atrial septal defect 5 Dilated cardiomyopathy 1R Familial hypertrophic cardiomyopathy 11
Variation info
Gene ACTC1 LOC101928174 RP11-814P5.1
CLNDBN not provided not specified Atrial septal defect 5 Dilated cardiomyopathy 1R Familial hypertrophic cardiomyopathy 11
Reversed 1
HGVS NC_000015.9:g.35084725A>G
CLNSRC
CLNACC RCV000157804.1, RCV000223818.1, RCV000477476.1,