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rs397516202

From SNPedia

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


Make rs397516202(A;A)
ReferenceGRCh38 38.1/141
Chromosome14
Position23418244
GeneMIR208B, MYH7
is asnp
is mentioned by
dbSNPrs397516202
ClinGenrs397516202
ebirs397516202
HLIrs397516202
Exacrs397516202
Varsomers397516202
Maprs397516202
PheGenIrs397516202
hapmaprs397516202
1000 genomesrs397516202
hgdprs397516202
ensemblrs397516202
gopubmedrs397516202
geneviewrs397516202
scholarrs397516202
googlers397516202
pharmgkbrs397516202
gwascentralrs397516202
openSNPrs397516202
23andMers397516202
23andMe allrs397516202
SNP Nexus

SNPshotrs397516202
SNPdbers397516202
MSV3drs397516202
GWAS Ctlgrs397516202
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 rs397516202(A;A)
Alt rs397516202(A;A)
Reference Rs397516202(G;G)
Significance Other
Disease Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1
Variation info
Gene MYH7 MIR208B
CLNDBN Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1
Reversed 1
HGVS NC_000014.8:g.23887453C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000035887.5, RCV000162337.5,