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rs199474707

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199474707(A;A)
Make rs199474707(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position46859490
GeneMYL3
is asnp
is mentioned by
dbSNPrs199474707
ClinGenrs199474707
ebirs199474707
HLIrs199474707
Exacrs199474707
Varsomers199474707
Maprs199474707
PheGenIrs199474707
hapmaprs199474707
1000 genomesrs199474707
hgdprs199474707
ensemblrs199474707
gopubmedrs199474707
geneviewrs199474707
scholarrs199474707
googlers199474707
pharmgkbrs199474707
gwascentralrs199474707
openSNPrs199474707
23andMers199474707
23andMe allrs199474707
SNP Nexus

SNPshotrs199474707
SNPdbers199474707
MSV3drs199474707
GWAS Ctlgrs199474707
Max Magnitude0
ClinVar
Risk rs199474707(A;A) rs199474707(T;T)
Alt rs199474707(A;A) rs199474707(T;T)
Reference Rs199474707(G;G)
Significance Probable-Pathogenic
Disease not specified Familial hypertrophic cardiomyopathy 8 not provided Increased left ventricular wall thickness Hypertrophic cardiomyopathy
Variation info
Gene MYL3
CLNDBN not specified Familial hypertrophic cardiomyopathy 8 not provided Increased left ventricular wall thickness Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000003.11:g.46900980C>A; NC_000003.11:g.46900980C>T
CLNSRC Leiden Muscular Dystrophy pages (MYL3)
CLNACC RCV000154477.4, RCV000201472.1, RCV000024469.2, RCV000036026.2, RCV000148717.1, RCV000196294.1,