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rs199474706

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199474706(C;G)
Make rs199474706(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position46859493
GeneMYL3
is asnp
is mentioned by
dbSNPrs199474706
dbSNP (classic)rs199474706
ClinGenrs199474706
ebirs199474706
HLIrs199474706
Exacrs199474706
Gnomadrs199474706
Varsomers199474706
LitVarrs199474706
Maprs199474706
PheGenIrs199474706
Biobankrs199474706
1000 genomesrs199474706
hgdprs199474706
ensemblrs199474706
geneviewrs199474706
scholarrs199474706
googlers199474706
pharmgkbrs199474706
gwascentralrs199474706
openSNPrs199474706
23andMers199474706
SNPshotrs199474706
SNPdbers199474706
MSV3drs199474706
GWAS Ctlgrs199474706
Max Magnitude0
ClinVar
Risk rs199474706(G;G)
Alt rs199474706(G;G)
Reference Rs199474706(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene MYL3
CLNDBN not provided
Reversed 1
HGVS NC_000003.11:g.46900983G>C
CLNSRC Leiden Muscular Dystrophy pages (MYL3)
CLNACC RCV000024474.2,