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rs121964859

From SNPedia

Merged intors45578238
Orientationminus
Stabilizedminus
Geno Mag Summary
(AGA;AGA) 0 common in clinvar
Make rs121964859(-;-)
Make rs121964859(-;AAG)
Make rs121964859(AAG;AAG)
ReferenceGRCh38 38.1/141
Chromosome1
Position201361972
GeneTNNT2
is asnp
is mentioned by
dbSNPrs121964859
dbSNP (classic)rs121964859
ClinGenrs121964859
ebirs121964859
HLIrs121964859
Exacrs121964859
Gnomadrs121964859
Varsomers121964859
LitVarrs121964859
Maprs121964859
PheGenIrs121964859
Biobankrs121964859
1000 genomesrs121964859
hgdprs121964859
ensemblrs121964859
geneviewrs121964859
scholarrs121964859
googlers121964859
pharmgkbrs121964859
gwascentralrs121964859
openSNPrs121964859
23andMers121964859
SNPshotrs121964859
SNPdbers121964859
MSV3drs121964859
GWAS Ctlgrs121964859
StatusMerged into rs45578238
Max Magnitude0
OMIM191045
Desc
Variant0006
Relatedalso
ClinVar
Risk
Alt
Reference Rs121964859(AGA;AGA)
Significance Pathogenic
Disease Left ventricular noncompaction 6 Cardiomyopathy Familial hypertrophic cardiomyopathy 2 Primary dilated cardiomyopathy not provided
Variation info
Gene TNNT2
CLNDBN Left ventricular noncompaction 6 Cardiomyopathy Familial hypertrophic cardiomyopathy 2 Primary dilated cardiomyopathy not provided
Reversed 1
HGVS NC_000001.10:g.201331099_201331101delTCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000036607.4, RCV000159333.1, RCV000168972.1, RCV000211868.1, RCV000223828.1,