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rs397516241

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516241(A;A)
Make rs397516241(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position23415252
GeneMHRT, MYH7
is asnp
is mentioned by
dbSNPrs397516241
dbSNP (classic)rs397516241
ClinGenrs397516241
ebirs397516241
HLIrs397516241
Exacrs397516241
Gnomadrs397516241
Varsomers397516241
LitVarrs397516241
Maprs397516241
PheGenIrs397516241
Biobankrs397516241
1000 genomesrs397516241
hgdprs397516241
ensemblrs397516241
geneviewrs397516241
scholarrs397516241
googlers397516241
pharmgkbrs397516241
gwascentralrs397516241
openSNPrs397516241
23andMers397516241
SNPshotrs397516241
SNPdbers397516241
MSV3drs397516241
GWAS Ctlgrs397516241
Max Magnitude0
ClinVar
Risk rs397516241(A;A)
Alt rs397516241(A;A)
Reference Rs397516241(G;G)
Significance Pathogenic
Disease not specified Hypertrophic cardiomyopathy
Variation info
Gene MYH7 MHRT
CLNDBN not specified Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23884461C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000035954.2, RCV000467506.1,