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rs727504290

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;G) 6.2 Familial Hypertrophic Cardiomyopathy
(G;G) 0 common in clinvar


Make rs727504290(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position63042875
GeneTPM1
is asnp
is mentioned by
dbSNPrs727504290
dbSNP (classic)rs727504290
ClinGenrs727504290
ebirs727504290
HLIrs727504290
Exacrs727504290
Gnomadrs727504290
Varsomers727504290
LitVarrs727504290
Maprs727504290
PheGenIrs727504290
Biobankrs727504290
1000 genomesrs727504290
hgdprs727504290
ensemblrs727504290
geneviewrs727504290
scholarrs727504290
googlers727504290
pharmgkbrs727504290
gwascentralrs727504290
openSNPrs727504290
23andMers727504290
SNPshotrs727504290
SNPdbers727504290
MSV3drs727504290
GWAS Ctlgrs727504290
Max Magnitude6.2
ClinVar
Risk rs727504290(C;C)
Alt rs727504290(C;C)
Reference Rs727504290(G;G)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy not provided
Variation info
Gene TPM1
CLNDBN Primary familial hypertrophic cardiomyopathy not provided
Reversed 0
HGVS NC_000015.9:g.63335074G>C
CLNSRC
CLNACC RCV000154303.2, RCV000159395.1,