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rs397516248

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516248(A;A)
Make rs397516248(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position23415153
GeneMYH7
is asnp
is mentioned by
dbSNPrs397516248
ebirs397516248
HLIrs397516248
Exacrs397516248
Varsomers397516248
Maprs397516248
PheGenIrs397516248
hapmaprs397516248
1000 genomesrs397516248
hgdprs397516248
ensemblrs397516248
gopubmedrs397516248
geneviewrs397516248
scholarrs397516248
googlers397516248
pharmgkbrs397516248
gwascentralrs397516248
openSNPrs397516248
23andMers397516248
23andMe allrs397516248
SNP Nexus

SNPshotrs397516248
SNPdbers397516248
MSV3drs397516248
GWAS Ctlgrs397516248
Max Magnitude0
ClinVar
Risk rs397516248(A;A)
Alt rs397516248(A;A)
Reference rs397516248(G;G)
Significance Pathogenic
Disease Myopathy not provided Familial hypertrophic cardiomyopathy 1 Left ventricular noncompaction cardiomyopathy Cardiomyopathy
Variation info
Gene MYH7 MHRT
CLNDBN Myopathy, distal, 1 not provided Familial hypertrophic cardiomyopathy 1 Left ventricular noncompaction cardiomyopathy Cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23884362C>T
CLNSRC ClinVar
CLNACC RCV000132759.5, RCV000158700.2, RCV000168917.1, RCV000207999.1, RCV000211834.1,