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rs104894692

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894692(A;A)
Make rs104894692(A;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position46756369
GeneFKRP
is asnp
is mentioned by
dbSNPrs104894692
ebirs104894692
HLIrs104894692
Exacrs104894692
Varsomers104894692
Maprs104894692
PheGenIrs104894692
hapmaprs104894692
1000 genomesrs104894692
hgdprs104894692
ensemblrs104894692
gopubmedrs104894692
geneviewrs104894692
scholarrs104894692
googlers104894692
pharmgkbrs104894692
gwascentralrs104894692
openSNPrs104894692
23andMers104894692
23andMe allrs104894692
SNP Nexus

SNPshotrs104894692
SNPdbers104894692
MSV3drs104894692
GWAS Ctlgrs104894692
Max Magnitude0
OMIM606596
Desc
Variant0016
Relatedalso
ClinVar
Risk rs104894692(A;A)
Alt rs104894692(A;A)
Reference rs104894692(T;T)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Limb-girdle muscular dystrophy-dystroglycanopathy
Variation info
Gene FKRP
CLNDBN Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5
Reversed 0
HGVS NC_000019.9:g.47259626T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004454.3, RCV000004455.3,