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rs727504255

From SNPedia

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


Make rs727504255(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position201365630
GeneTNNT2
is asnp
is mentioned by
dbSNPrs727504255
dbSNP (old)rs727504255
ClinGenrs727504255
ebirs727504255
HLIrs727504255
Exacrs727504255
Gnomadrs727504255
Varsomers727504255
Maprs727504255
PheGenIrs727504255
Biobankrs727504255
1000 genomesrs727504255
hgdprs727504255
ensemblrs727504255
gopubmedrs727504255
geneviewrs727504255
scholarrs727504255
googlers727504255
pharmgkbrs727504255
gwascentralrs727504255
openSNPrs727504255
23andMers727504255
23andMe allrs727504255
SNP Nexus

SNPshotrs727504255
SNPdbers727504255
MSV3drs727504255
GWAS Ctlgrs727504255
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 rs727504255(A;A)
Alt rs727504255(A;A)
Reference Rs727504255(G;G)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy not provided
Variation info
Gene TNNT2
CLNDBN Primary familial hypertrophic cardiomyopathy not provided
Reversed 1
HGVS NC_000001.10:g.201334758C>T
CLNSRC
CLNACC RCV000154228.2, RCV000159274.1,