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rs727504331

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;T) 6 Familial hypertrophic cardiomyopathy (possible)
(T;T) 0 common in clinvar


Make rs727504331(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position201365242
GeneTNNT2
is asnp
is mentioned by
dbSNPrs727504331
dbSNP (old)rs727504331
ClinGenrs727504331
ebirs727504331
HLIrs727504331
Exacrs727504331
Varsomers727504331
Maprs727504331
PheGenIrs727504331
Biobankrs727504331
1000 genomesrs727504331
hgdprs727504331
ensemblrs727504331
gopubmedrs727504331
geneviewrs727504331
scholarrs727504331
googlers727504331
pharmgkbrs727504331
gwascentralrs727504331
openSNPrs727504331
23andMers727504331
23andMe allrs727504331
SNP Nexus

SNPshotrs727504331
SNPdbers727504331
MSV3drs727504331
GWAS Ctlgrs727504331
Max Magnitude6
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685OA-icon.png].
ClinVar
Risk rs727504331(G;G)
Alt rs727504331(G;G)
Reference Rs727504331(T;T)
Significance Probable-Pathogenic
Disease not provided Primary familial hypertrophic cardiomyopathy
Variation info
Gene TNNT2
CLNDBN not provided Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000001.10:g.201334370A>C
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000159288.3, RCV000211744.1,