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rs121908110

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908110(A;G)
Make rs121908110(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position46756837
GeneFKRP
is asnp
is mentioned by
dbSNPrs121908110
ebirs121908110
HLIrs121908110
Exacrs121908110
Varsomers121908110
Maprs121908110
PheGenIrs121908110
hapmaprs121908110
1000 genomesrs121908110
hgdprs121908110
ensemblrs121908110
gopubmedrs121908110
geneviewrs121908110
scholarrs121908110
googlers121908110
pharmgkbrs121908110
gwascentralrs121908110
openSNPrs121908110
23andMers121908110
23andMe allrs121908110
SNP Nexus

SNPshotrs121908110
SNPdbers121908110
MSV3drs121908110
GWAS Ctlgrs121908110
Max Magnitude0
OMIM606596
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121908110(G;G)
Alt rs121908110(G;G)
Reference rs121908110(A;A)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy without mental retardation not provided Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 Limb-girdle muscular dystrophy-dystroglycanopathy Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Muscular dystrophy
Variation info
Gene FKRP
CLNDBN Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 not provided Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Muscular dystrophy
Reversed 0
HGVS NC_000019.9:g.47260094A>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000004457.3, RCV000082172.3, RCV000178346.1, RCV000178347.1, RCV000178348.1, RCV000194089.1,