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rs104894680

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894680(A;A)
Make rs104894680(A;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position46756604
GeneFKRP
is asnp
is mentioned by
dbSNPrs104894680
ebirs104894680
HLIrs104894680
Exacrs104894680
Varsomers104894680
Maprs104894680
PheGenIrs104894680
hapmaprs104894680
1000 genomesrs104894680
hgdprs104894680
ensemblrs104894680
gopubmedrs104894680
geneviewrs104894680
scholarrs104894680
googlers104894680
pharmgkbrs104894680
gwascentralrs104894680
openSNPrs104894680
23andMers104894680
23andMe allrs104894680
SNP Nexus

SNPshotrs104894680
SNPdbers104894680
MSV3drs104894680
GWAS Ctlgrs104894680
GMAF0.0004591
Max Magnitude0
OMIM606596
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894680(A,T;A,T)
Alt rs104894680(A,T;A,T)
Reference rs104894680(C;C)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy without mental retardation
Variation info
Gene FKRP
CLNDBN Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5
Reversed 0
HGVS NC_000019.9:g.47259861C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004440.2,