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rs104894689

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894689(A;A)
Make rs104894689(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position46756214
GeneFKRP
is asnp
is mentioned by
dbSNPrs104894689
ebirs104894689
HLIrs104894689
Exacrs104894689
Varsomers104894689
Maprs104894689
PheGenIrs104894689
hapmaprs104894689
1000 genomesrs104894689
hgdprs104894689
ensemblrs104894689
gopubmedrs104894689
geneviewrs104894689
scholarrs104894689
googlers104894689
pharmgkbrs104894689
gwascentralrs104894689
openSNPrs104894689
23andMers104894689
23andMe allrs104894689
SNP Nexus

SNPshotrs104894689
SNPdbers104894689
MSV3drs104894689
GWAS Ctlgrs104894689
Max Magnitude0
OMIM606596
Desc
Variant0013
Relatedalso
ClinVar
Risk rs104894689(A;A)
Alt rs104894689(A;A)
Reference rs104894689(G;G)
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.47259471G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004451.2,