rs397516470

From SNPedia

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


Make rs397516470(-;-)
ReferenceGRCh38 38.1/141
Chromosome1
Position201363377
GeneTNNT2
is asnp
is mentioned by
dbSNPrs397516470
ebirs397516470
HLIrs397516470
Exacrs397516470
Varsomers397516470
Maprs397516470
PheGenIrs397516470
hapmaprs397516470
1000 genomesrs397516470
hgdprs397516470
ensemblrs397516470
gopubmedrs397516470
geneviewrs397516470
scholarrs397516470
googlers397516470
pharmgkbrs397516470
gwascentralrs397516470
openSNPrs397516470
23andMers397516470
23andMe allrs397516470
SNP Nexus

SNPshotrs397516470
SNPdbers397516470
MSV3drs397516470
GWAS Ctlgrs397516470
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
Alt
Reference Rs397516470(GAG;GAG)
Significance Other
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene TNNT2
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000001.10:g.201332505_201332507delCTC
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000211867.2,