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rs397516407

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397516407(A;C)
Make rs397516407(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position110911090
GeneMYL2
is asnp
is mentioned by
dbSNPrs397516407
ebirs397516407
HLIrs397516407
Exacrs397516407
Varsomers397516407
Maprs397516407
PheGenIrs397516407
hapmaprs397516407
1000 genomesrs397516407
hgdprs397516407
ensemblrs397516407
gopubmedrs397516407
geneviewrs397516407
scholarrs397516407
googlers397516407
pharmgkbrs397516407
gwascentralrs397516407
openSNPrs397516407
23andMers397516407
23andMe allrs397516407
SNP Nexus

SNPshotrs397516407
SNPdbers397516407
MSV3drs397516407
GWAS Ctlgrs397516407
Max Magnitude0
ClinVar
Risk rs397516407(C,G;C,G)
Alt rs397516407(C,G;C,G)
Reference rs397516407(A;A)
Significance Probable-Pathogenic
Disease not provided not specified Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYL2
CLNDBN not provided not specified Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000012.11:g.111348894T>C; NC_000012.11:g.111348894T>G
CLNSRC ClinVar
CLNACC RCV000158908.1, RCV000223748.1, RCV000036409.2, RCV000158907.3,