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rs397516157

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;T) 6.2 Familial Hypertrophic Cardiomyopathy
(T;T) 0 common in clinvar
Make rs397516157(C;C)
Make rs397516157(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23424893
GeneMYH7
is asnp
is mentioned by
dbSNPrs397516157
dbSNP (classic)rs397516157
ClinGenrs397516157
ebirs397516157
HLIrs397516157
Exacrs397516157
Gnomadrs397516157
Varsomers397516157
LitVarrs397516157
Maprs397516157
PheGenIrs397516157
Biobankrs397516157
1000 genomesrs397516157
hgdprs397516157
ensemblrs397516157
geneviewrs397516157
scholarrs397516157
googlers397516157
pharmgkbrs397516157
gwascentralrs397516157
openSNPrs397516157
23andMers397516157
SNPshotrs397516157
SNPdbers397516157
MSV3drs397516157
GWAS Ctlgrs397516157
Max Magnitude6.2
ClinVar
Risk rs397516157(A;A) rs397516157(C;C)
Alt rs397516157(A;A) rs397516157(C;C)
Reference Rs397516157(T;T)
Significance Probable-Pathogenic
Disease not specified Familial hypertrophic cardiomyopathy 1 not provided
Variation info
Gene MYH7
CLNDBN not specified Familial hypertrophic cardiomyopathy 1 not provided
Reversed 1
HGVS NC_000014.8:g.23894102A>G; NC_000014.8:g.23894102A>T
CLNSRC UniProtKB (protein)
CLNACC RCV000035805.2, RCV000201446.1, RCV000158847.2,