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

rs104894681

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894681(C;T)
Make rs104894681(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position46756793
GeneFKRP
is asnp
is mentioned by
dbSNPrs104894681
ebirs104894681
HLIrs104894681
Exacrs104894681
Varsomers104894681
Maprs104894681
PheGenIrs104894681
hapmaprs104894681
1000 genomesrs104894681
hgdprs104894681
ensemblrs104894681
gopubmedrs104894681
geneviewrs104894681
scholarrs104894681
googlers104894681
pharmgkbrs104894681
gwascentralrs104894681
openSNPrs104894681
23andMers104894681
23andMe allrs104894681
SNP Nexus

SNPshotrs104894681
SNPdbers104894681
MSV3drs104894681
GWAS Ctlgrs104894681
Max Magnitude0
OMIM606596
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894681(T;T)
Alt rs104894681(T;T)
Reference rs104894681(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.47260050C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004441.3,