Have questions? Visit https://www.reddit.com/r/SNPedia

rs28937905

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28937905(C;T)
Make rs28937905(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position46755610
GeneFKRP
is asnp
is mentioned by
dbSNPrs28937905
ebirs28937905
HLIrs28937905
Exacrs28937905
Varsomers28937905
Maprs28937905
PheGenIrs28937905
hapmaprs28937905
1000 genomesrs28937905
hgdprs28937905
ensemblrs28937905
gopubmedrs28937905
geneviewrs28937905
scholarrs28937905
googlers28937905
pharmgkbrs28937905
gwascentralrs28937905
openSNPrs28937905
23andMers28937905
23andMe allrs28937905
SNP Nexus

SNPshotrs28937905
SNPdbers28937905
MSV3drs28937905
GWAS Ctlgrs28937905
GMAF0.0004591
Max Magnitude0
OMIM606596
DescMUSCULAR DYSTROPHY, LIMB-GIRDLE, 2I
Variant0011
Relatedalso
Neighborrs28937902
Distance503


ClinVar
Risk rs28937905(G,T;G,T)
Alt rs28937905(G,T;G,T)
Reference rs28937905(C;C)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy-dystroglycanopathy
Variation info
Gene FKRP
CLNDBN Limb-girdle muscular dystrophy-dystroglycanopathy, type C5
Reversed 0
HGVS NC_000019.9:g.47258867C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004449.3,