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rs730881119

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;C) 6.2 Familial Hypertrophic Cardiomyopathy
Make rs730881119(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position201359629
GeneTNNT2
is asnp
is mentioned by
dbSNPrs730881119
dbSNP (classic)rs730881119
ClinGenrs730881119
ebirs730881119
HLIrs730881119
Exacrs730881119
Gnomadrs730881119
Varsomers730881119
LitVarrs730881119
Maprs730881119
PheGenIrs730881119
Biobankrs730881119
1000 genomesrs730881119
hgdprs730881119
ensemblrs730881119
geneviewrs730881119
scholarrs730881119
googlers730881119
pharmgkbrs730881119
gwascentralrs730881119
openSNPrs730881119
23andMers730881119
SNPshotrs730881119
SNPdbers730881119
MSV3drs730881119
GWAS Ctlgrs730881119
Max Magnitude6.2
ClinVar
Risk rs730881119(C;C)
Alt rs730881119(C;C)
Reference Rs730881119(-;-)
Significance Pathogenic
Disease Cardiomyopathy
Variation info
Gene TNNT2
CLNDBN Cardiomyopathy
Reversed 1
HGVS NC_000001.10:g.201328758dupG
CLNSRC
CLNACC RCV000159334.1,