Have questions? Visit https://www.reddit.com/r/SNPedia

rs28937903

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28937903(A;A)
Make rs28937903(A;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position46756814
GeneFKRP
is asnp
is mentioned by
dbSNPrs28937903
ebirs28937903
HLIrs28937903
Exacrs28937903
Varsomers28937903
Maprs28937903
PheGenIrs28937903
hapmaprs28937903
1000 genomesrs28937903
hgdprs28937903
ensemblrs28937903
gopubmedrs28937903
geneviewrs28937903
scholarrs28937903
googlers28937903
pharmgkbrs28937903
gwascentralrs28937903
openSNPrs28937903
23andMers28937903
23andMe allrs28937903
SNP Nexus

SNPshotrs28937903
SNPdbers28937903
MSV3drs28937903
GWAS Ctlgrs28937903
Max Magnitude0
? (A;A) (A;C) (C;C) 28
OMIM606596
DescMUSCULAR DYSTROPHY, CONGENITAL, 1C, WITH NEUROLOGIC ABNORMALITIES
Variant0009
Relatedalso
Neighborrs28937904
Distance151


ClinVar
Risk rs28937903(A,T;A,T)
Alt rs28937903(A,T;A,T)
Reference rs28937903(C;C)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy with mental retardation Limb-girdle muscular dystrophy-dystroglycanopathy
Variation info
Gene FKRP
CLNDBN Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B5 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5
Reversed 0
HGVS NC_000019.9:g.47260071C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004447.3, RCV000201040.1,