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rs104894679

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894679(A;G)
Make rs104894679(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position46756376
GeneFKRP
is asnp
is mentioned by
dbSNPrs104894679
ebirs104894679
HLIrs104894679
Exacrs104894679
Varsomers104894679
Maprs104894679
PheGenIrs104894679
hapmaprs104894679
1000 genomesrs104894679
hgdprs104894679
ensemblrs104894679
gopubmedrs104894679
geneviewrs104894679
scholarrs104894679
googlers104894679
pharmgkbrs104894679
gwascentralrs104894679
openSNPrs104894679
23andMers104894679
23andMe allrs104894679
SNP Nexus

SNPshotrs104894679
SNPdbers104894679
MSV3drs104894679
GWAS Ctlgrs104894679
Max Magnitude0
OMIM606596
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894679(G;G)
Alt rs104894679(G;G)
Reference rs104894679(A;A)
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.47259633A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004439.3,