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rs199474808

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199474808(A;A)
Make rs199474808(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position110915743
GeneMYL2
is asnp
is mentioned by
dbSNPrs199474808
ebirs199474808
HLIrs199474808
Exacrs199474808
Varsomers199474808
Maprs199474808
PheGenIrs199474808
hapmaprs199474808
1000 genomesrs199474808
hgdprs199474808
ensemblrs199474808
gopubmedrs199474808
geneviewrs199474808
scholarrs199474808
googlers199474808
pharmgkbrs199474808
gwascentralrs199474808
openSNPrs199474808
23andMers199474808
23andMe allrs199474808
SNP Nexus

SNPshotrs199474808
SNPdbers199474808
MSV3drs199474808
GWAS Ctlgrs199474808
Max Magnitude0
ClinVar
Risk rs199474808(A,T;A,T)
Alt rs199474808(A,T;A,T)
Reference rs199474808(C;C)
Significance Pathogenic
Disease not specified not provided Primary familial hypertrophic cardiomyopathy Ventricular extrasystoles Death in infancy
Variation info
Gene MYL2
CLNDBN not specified not provided Primary familial hypertrophic cardiomyopathy Ventricular extrasystoles Death in infancy
Reversed 1
HGVS NC_000012.11:g.111353547G>A; NC_000012.11:g.111353547G>T
CLNSRC Leiden Muscular Dystrophy pages (MYL2)
CLNACC RCV000036382.2, RCV000024457.1, RCV000036381.2, RCV000148715.1, RCV000157368.1, RCV000234981.1,