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rs104894204

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;T) 6.2 Familial Hypertrophic Cardiomyopathy
(T;T) 0 common in clinvar


Make rs104894204(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position19188245
GeneCSRP3
is asnp
is mentioned by
dbSNPrs104894204
dbSNP (classic)rs104894204
ClinGenrs104894204
ebirs104894204
HLIrs104894204
Exacrs104894204
Gnomadrs104894204
Varsomers104894204
LitVarrs104894204
Maprs104894204
PheGenIrs104894204
Biobankrs104894204
1000 genomesrs104894204
hgdprs104894204
ensemblrs104894204
geneviewrs104894204
scholarrs104894204
googlers104894204
pharmgkbrs104894204
gwascentralrs104894204
openSNPrs104894204
23andMers104894204
SNPshotrs104894204
SNPdbers104894204
MSV3drs104894204
GWAS Ctlgrs104894204
Max Magnitude6.2
OMIM600824
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894204(G;G)
Alt rs104894204(G;G)
Reference Rs104894204(T;T)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 12
Variation info
Gene CSRP3
CLNDBN Familial hypertrophic cardiomyopathy 12
Reversed 1
HGVS NC_000011.9:g.19209792A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009322.2,