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rs104894655

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894655(C;T)
Make rs104894655(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position39665762
GeneTCAP
is asnp
is mentioned by
dbSNPrs104894655
ebirs104894655
HLIrs104894655
Exacrs104894655
Varsomers104894655
Maprs104894655
PheGenIrs104894655
hapmaprs104894655
1000 genomesrs104894655
hgdprs104894655
ensemblrs104894655
gopubmedrs104894655
geneviewrs104894655
scholarrs104894655
googlers104894655
pharmgkbrs104894655
gwascentralrs104894655
openSNPrs104894655
23andMers104894655
23andMe allrs104894655
SNP Nexus

SNPshotrs104894655
SNPdbers104894655
MSV3drs104894655
GWAS Ctlgrs104894655
Max Magnitude0
OMIM604488
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894655(T;T)
Alt rs104894655(T;T)
Reference Rs104894655(C;C)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy Dilated cardiomyopathy 1N Primary dilated cardiomyopathy
Variation info
Gene TCAP
CLNDBN Limb-girdle muscular dystrophy, type 2G Dilated cardiomyopathy 1N Primary dilated cardiomyopathy
Reversed 0
HGVS NC_000017.10:g.37822015C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005861.3, RCV000037790.3, RCV000211741.1,