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rs104894501

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894501(A;A)
Make rs104894501(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position63044030
GeneTPM1
is asnp
is mentioned by
dbSNPrs104894501
ebirs104894501
HLIrs104894501
Exacrs104894501
Varsomers104894501
Maprs104894501
PheGenIrs104894501
hapmaprs104894501
1000 genomesrs104894501
hgdprs104894501
ensemblrs104894501
gopubmedrs104894501
geneviewrs104894501
scholarrs104894501
googlers104894501
pharmgkbrs104894501
gwascentralrs104894501
openSNPrs104894501
23andMers104894501
23andMe allrs104894501
SNP Nexus

SNPshotrs104894501
SNPdbers104894501
MSV3drs104894501
GWAS Ctlgrs104894501
Max Magnitude0
OMIM191010
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894501(A,T;A,T)
Alt rs104894501(A,T;A,T)
Reference rs104894501(G;G)
Significance Pathogenic
Disease Dilated cardiomyopathy 1Y not specified
Variation info
Gene TPM1
CLNDBN Dilated cardiomyopathy 1Y not specified
Reversed 0
HGVS NC_000015.9:g.63336229G>A; NC_000015.9:g.63336229G>T
CLNSRC Leiden Muscular Dystrophy pages (TPM1) OMIM Allelic Variant
CLNACC RCV000013275.16, RCV000036315.3,


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