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rs104894690

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894690(C;T)
Make rs104894690(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position46755850
GeneFKRP
is asnp
is mentioned by
dbSNPrs104894690
ebirs104894690
HLIrs104894690
Exacrs104894690
Varsomers104894690
Maprs104894690
PheGenIrs104894690
hapmaprs104894690
1000 genomesrs104894690
hgdprs104894690
ensemblrs104894690
gopubmedrs104894690
geneviewrs104894690
scholarrs104894690
googlers104894690
pharmgkbrs104894690
gwascentralrs104894690
openSNPrs104894690
23andMers104894690
23andMe allrs104894690
SNP Nexus

SNPshotrs104894690
SNPdbers104894690
MSV3drs104894690
GWAS Ctlgrs104894690
Max Magnitude0
OMIM606596
Desc
Variant0014
Relatedalso
ClinVar
Risk rs104894690(T;T)
Alt rs104894690(T;T)
Reference rs104894690(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.47259107C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004452.4,