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rs397516171

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6 Familial hypertrophic cardiomyopathy (possible)
(G;G) 0 common in clinvar


Make rs397516171(A;A)
ReferenceGRCh38 38.1/141
Chromosome14
Position23424041
GeneMYH7
is asnp
is mentioned by
dbSNPrs397516171
ebirs397516171
HLIrs397516171
Exacrs397516171
Varsomers397516171
Maprs397516171
PheGenIrs397516171
hapmaprs397516171
1000 genomesrs397516171
hgdprs397516171
ensemblrs397516171
gopubmedrs397516171
geneviewrs397516171
scholarrs397516171
googlers397516171
pharmgkbrs397516171
gwascentralrs397516171
openSNPrs397516171
23andMers397516171
23andMe allrs397516171
SNP Nexus

SNPshotrs397516171
SNPdbers397516171
MSV3drs397516171
GWAS Ctlgrs397516171
Max Magnitude6
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685OA-icon.png].
ClinVar
Risk rs397516171(A;A) rs397516171(C;C)
Alt rs397516171(A;A) rs397516171(C;C)
Reference Rs397516171(G;G)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy not provided Cardiovascular phenotype
Variation info
Gene MYH7
CLNDBN Primary familial hypertrophic cardiomyopathy not provided Cardiovascular phenotype
Reversed 1
HGVS NC_000014.8:g.23893250C>G; NC_000014.8:g.23893250C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000151255.2, RCV000158575.2, RCV000035826.2, RCV000158854.2, RCV000242427.1,