Have questions? Visit https://www.reddit.com/r/SNPedia

rs397516160

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397516160(C;G)
Make rs397516160(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome14
Position23424804
GeneMYH7
is asnp
is mentioned by
dbSNPrs397516160
dbSNP (classic)rs397516160
ClinGenrs397516160
ebirs397516160
HLIrs397516160
Exacrs397516160
Gnomadrs397516160
Varsomers397516160
LitVarrs397516160
Maprs397516160
PheGenIrs397516160
Biobankrs397516160
1000 genomesrs397516160
hgdprs397516160
ensemblrs397516160
geneviewrs397516160
scholarrs397516160
googlers397516160
pharmgkbrs397516160
gwascentralrs397516160
openSNPrs397516160
23andMers397516160
SNPshotrs397516160
SNPdbers397516160
MSV3drs397516160
GWAS Ctlgrs397516160
Max Magnitude0
ClinVar
Risk rs397516160(G;G) rs397516160(T;T)
Alt rs397516160(G;G) rs397516160(T;T)
Reference Rs397516160(C;C)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYH7
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23894013G>C
CLNSRC UniProtKB (protein)
CLNACC RCV000035811.3,