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rs104894505

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894505(A;A)
Make rs104894505(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position63044072
GeneTPM1
is asnp
is mentioned by
dbSNPrs104894505
ebirs104894505
HLIrs104894505
Exacrs104894505
Varsomers104894505
Maprs104894505
PheGenIrs104894505
hapmaprs104894505
1000 genomesrs104894505
hgdprs104894505
ensemblrs104894505
gopubmedrs104894505
geneviewrs104894505
scholarrs104894505
googlers104894505
pharmgkbrs104894505
gwascentralrs104894505
openSNPrs104894505
23andMers104894505
23andMe allrs104894505
SNP Nexus

SNPshotrs104894505
SNPdbers104894505
MSV3drs104894505
GWAS Ctlgrs104894505
Max Magnitude0
OMIM191010
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894505(A;A)
Alt rs104894505(A;A)
Reference rs104894505(G;G)
Significance Pathogenic
Disease Dilated cardiomyopathy 1Y not provided
Variation info
Gene TPM1
CLNDBN Dilated cardiomyopathy 1Y not provided
Reversed 0
HGVS NC_000015.9:g.63336271G>A
CLNSRC Leiden Muscular Dystrophy pages (TPM1) OMIM Allelic Variant
CLNACC RCV000013274.22, RCV000159370.2,


[PMID 11273725] Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy.