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rs28933405

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
(G;T) 3 Familial Hypertrophic Cardiomyopathy
(T;T) 3 Familial Hypertrophic Cardiomyopathy
ReferenceGRCh38 38.1/141
Chromosome2
Position178785999
GeneTTN
is asnp
is mentioned by
dbSNPrs28933405
ebirs28933405
HLIrs28933405
Exacrs28933405
Varsomers28933405
Maprs28933405
PheGenIrs28933405
hapmaprs28933405
1000 genomesrs28933405
hgdprs28933405
ensemblrs28933405
gopubmedrs28933405
geneviewrs28933405
scholarrs28933405
googlers28933405
pharmgkbrs28933405
gwascentralrs28933405
openSNPrs28933405
23andMers28933405
23andMe allrs28933405
SNP Nexus

SNPshotrs28933405
SNPdbers28933405
MSV3drs28933405
GWAS Ctlgrs28933405
Max Magnitude3
Familial hypertrophic cardiomyopathy

see also OMIM 188840.0001

OMIM188840
DescCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
Variant0001
Relatedalso


ClinVar
Risk rs28933405(A;A)
Alt rs28933405(A;A)
Reference rs28933405(G;G)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 9
Variation info
Gene TTN
CLNDBN Familial hypertrophic cardiomyopathy 9
Reversed 1
HGVS NC_000002.11:g.179650726C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013484.24,