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rs397516408

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397516408(A;G)
Make rs397516408(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position110919117
GeneMYL2
is asnp
is mentioned by
dbSNPrs397516408
ebirs397516408
HLIrs397516408
Exacrs397516408
Varsomers397516408
Maprs397516408
PheGenIrs397516408
hapmaprs397516408
1000 genomesrs397516408
hgdprs397516408
ensemblrs397516408
gopubmedrs397516408
geneviewrs397516408
scholarrs397516408
googlers397516408
pharmgkbrs397516408
gwascentralrs397516408
openSNPrs397516408
23andMers397516408
23andMe allrs397516408
SNP Nexus

SNPshotrs397516408
SNPdbers397516408
MSV3drs397516408
GWAS Ctlgrs397516408
Max Magnitude0
ClinVar
Risk rs397516408(G;G)
Alt rs397516408(G;G)
Reference rs397516408(A;A)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYL2
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000012.11:g.111356921T>C
CLNSRC ClinVar
CLNACC RCV000036410.2,