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rs28928909

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28928909(G;T)
Make rs28928909(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position80708053
GeneMYF6
is asnp
is mentioned by
dbSNPrs28928909
ebirs28928909
HLIrs28928909
Exacrs28928909
Varsomers28928909
Maprs28928909
PheGenIrs28928909
hapmaprs28928909
1000 genomesrs28928909
hgdprs28928909
ensemblrs28928909
gopubmedrs28928909
geneviewrs28928909
scholarrs28928909
googlers28928909
pharmgkbrs28928909
gwascentralrs28928909
openSNPrs28928909
23andMers28928909
23andMe allrs28928909
SNP Nexus

SNPshotrs28928909
SNPdbers28928909
MSV3drs28928909
GWAS Ctlgrs28928909
GMAF0.0009183
Max Magnitude0
OMIM159991
DescMYOPATHY, CENTRONUCLEAR, MILD
Variant0001
Relatedalso


ClinVar
Risk rs28928909(T;T)
Alt rs28928909(T;T)
Reference rs28928909(G;G)
Significance Pathogenic
Disease Myopathy
Variation info
Gene MYF6
CLNDBN Myopathy, centronuclear, 3
Reversed 0
HGVS NC_000012.11:g.81101832G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015216.26,