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rs769303249

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs769303249(G;T)
Make rs769303249(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position34793390
GeneACTC1, LOC101928174
is asnp
is mentioned by
dbSNPrs769303249
dbSNP (classic)rs769303249
ClinGenrs769303249
ebirs769303249
HLIrs769303249
Exacrs769303249
Gnomadrs769303249
Varsomers769303249
LitVarrs769303249
Maprs769303249
PheGenIrs769303249
Biobankrs769303249
1000 genomesrs769303249
hgdprs769303249
ensemblrs769303249
geneviewrs769303249
scholarrs769303249
googlers769303249
pharmgkbrs769303249
gwascentralrs769303249
openSNPrs769303249
23andMers769303249
23andMe allrs769303249
SNPshotrs769303249
SNPdbers769303249
MSV3drs769303249
GWAS Ctlgrs769303249
Max Magnitude0
ClinVar
Risk rs769303249(A;A) rs769303249(T;T)
Alt rs769303249(A;A) rs769303249(T;T)
Reference Rs769303249(G;G)
Significance Probable-Pathogenic
Disease Atrial septal defect 5 Dilated cardiomyopathy 1R Familial hypertrophic cardiomyopathy 11 not provided
Variation info
Gene ACTC1 LOC101928174 RP11-814P5.1
CLNDBN Atrial septal defect 5 Dilated cardiomyopathy 1R Familial hypertrophic cardiomyopathy 11 not provided
Reversed 0
HGVS NC_000015.9:g.35085591G>A; NC_000015.9:g.35085591G>T
CLNSRC
CLNACC RCV000467806.1, RCV000418492.1,