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rs104894682

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894682(A;A)
Make rs104894682(A;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position46756936
GeneFKRP
is asnp
is mentioned by
dbSNPrs104894682
ebirs104894682
HLIrs104894682
Exacrs104894682
Varsomers104894682
Maprs104894682
PheGenIrs104894682
hapmaprs104894682
1000 genomesrs104894682
hgdprs104894682
ensemblrs104894682
gopubmedrs104894682
geneviewrs104894682
scholarrs104894682
googlers104894682
pharmgkbrs104894682
gwascentralrs104894682
openSNPrs104894682
23andMers104894682
23andMe allrs104894682
SNP Nexus

SNPshotrs104894682
SNPdbers104894682
MSV3drs104894682
GWAS Ctlgrs104894682
Max Magnitude0
OMIM606596
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894682(A;A)
Alt rs104894682(A;A)
Reference rs104894682(T;T)
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.47260193T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004444.3,