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rs28937597

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28937597(C;T)
Make rs28937597(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position137870821
GeneLOC101928005, MYOT
is asnp
is mentioned by
dbSNPrs28937597
ebirs28937597
HLIrs28937597
Exacrs28937597
Varsomers28937597
Maprs28937597
PheGenIrs28937597
hapmaprs28937597
1000 genomesrs28937597
hgdprs28937597
ensemblrs28937597
gopubmedrs28937597
geneviewrs28937597
scholarrs28937597
googlers28937597
pharmgkbrs28937597
gwascentralrs28937597
openSNPrs28937597
23andMers28937597
23andMe allrs28937597
SNP Nexus

SNPshotrs28937597
SNPdbers28937597
MSV3drs28937597
GWAS Ctlgrs28937597
Max Magnitude0
OMIM604103
DescMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A
Variant0001
Relatedalso
Neighborrs6890689
Distance50


ClinVar
Risk rs28937597(T;T)
Alt rs28937597(T;T)
Reference rs28937597(C;C)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene MYOT LOC101928005
CLNDBN Limb-girdle muscular dystrophy, type 1A
Reversed 0
HGVS NC_000005.9:g.137206510C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006190.3,