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

rs199474813

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199474813(C;C)
Make rs199474813(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position110911176
GeneMYL2
is asnp
is mentioned by
dbSNPrs199474813
ebirs199474813
HLIrs199474813
Exacrs199474813
Varsomers199474813
Maprs199474813
PheGenIrs199474813
hapmaprs199474813
1000 genomesrs199474813
hgdprs199474813
ensemblrs199474813
gopubmedrs199474813
geneviewrs199474813
scholarrs199474813
googlers199474813
pharmgkbrs199474813
gwascentralrs199474813
openSNPrs199474813
23andMers199474813
23andMe allrs199474813
SNP Nexus

SNPshotrs199474813
SNPdbers199474813
MSV3drs199474813
GWAS Ctlgrs199474813
Max Magnitude0
ClinVar
Risk rs199474813(C;C)
Alt rs199474813(C;C)
Reference rs199474813(G;G)
Significance Pathogenic
Disease not provided Cardiomyopathy
Variation info
Gene MYL2
CLNDBN not provided Cardiomyopathy
Reversed 1
HGVS NC_000012.11:g.111348980C>G
CLNSRC Leiden Muscular Dystrophy pages (MYL2)
CLNACC RCV000024459.1, RCV000158932.1,