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rs45578238

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGA;AGA) 0 common in clinvar
Make rs45578238(-;-)
Make rs45578238(-;AGA)
ReferenceGRCh38 38.1/141
Chromosome1
Position201361971
GeneTNNT2
is asnp
is mentioned by
dbSNPrs45578238
ebirs45578238
HLIrs45578238
Exacrs45578238
Varsomers45578238
Maprs45578238
PheGenIrs45578238
hapmaprs45578238
1000 genomesrs45578238
hgdprs45578238
ensemblrs45578238
gopubmedrs45578238
geneviewrs45578238
scholarrs45578238
googlers45578238
pharmgkbrs45578238
gwascentralrs45578238
openSNPrs45578238
23andMers45578238
23andMe allrs45578238
SNP Nexus

SNPshotrs45578238
SNPdbers45578238
MSV3drs45578238
GWAS Ctlgrs45578238
Max Magnitude0
ClinVar
Risk rs45578238(;)
Alt rs45578238(;)
Reference rs45578238(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,