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rs104894205

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894205(C;C)
Make rs104894205(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position19188286
GeneCSRP3
is asnp
is mentioned by
dbSNPrs104894205
dbSNP (classic)rs104894205
ClinGenrs104894205
ebirs104894205
HLIrs104894205
Exacrs104894205
Gnomadrs104894205
Varsomers104894205
LitVarrs104894205
Maprs104894205
PheGenIrs104894205
Biobankrs104894205
1000 genomesrs104894205
hgdprs104894205
ensemblrs104894205
geneviewrs104894205
scholarrs104894205
googlers104894205
pharmgkbrs104894205
gwascentralrs104894205
openSNPrs104894205
23andMers104894205
SNPshotrs104894205
SNPdbers104894205
MSV3drs104894205
GWAS Ctlgrs104894205
Max Magnitude0
OMIM600824
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894205(C;C)
Alt rs104894205(C;C)
Reference Rs104894205(T;T)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 12 not specified
Variation info
Gene CSRP3
CLNDBN Familial hypertrophic cardiomyopathy 12 not specified
Reversed 1
HGVS NC_000011.9:g.19209833A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009323.4, RCV000037770.2,