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rs104894691

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894691(C;C)
Make rs104894691(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position46756349
GeneFKRP
is asnp
is mentioned by
dbSNPrs104894691
ebirs104894691
HLIrs104894691
Exacrs104894691
Varsomers104894691
Maprs104894691
PheGenIrs104894691
hapmaprs104894691
1000 genomesrs104894691
hgdprs104894691
ensemblrs104894691
gopubmedrs104894691
geneviewrs104894691
scholarrs104894691
googlers104894691
pharmgkbrs104894691
gwascentralrs104894691
openSNPrs104894691
23andMers104894691
23andMe allrs104894691
SNP Nexus

SNPshotrs104894691
SNPdbers104894691
MSV3drs104894691
GWAS Ctlgrs104894691
Max Magnitude0
OMIM606596
Desc
Variant0015
Relatedalso
ClinVar
Risk rs104894691(C;C)
Alt rs104894691(C;C)
Reference rs104894691(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.47259606T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004453.3,