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rs28937902

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28937902(A;A)
Make rs28937902(A;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position46756113
GeneFKRP
is asnp
is mentioned by
dbSNPrs28937902
ebirs28937902
HLIrs28937902
Exacrs28937902
Varsomers28937902
Maprs28937902
PheGenIrs28937902
hapmaprs28937902
1000 genomesrs28937902
hgdprs28937902
ensemblrs28937902
gopubmedrs28937902
geneviewrs28937902
scholarrs28937902
googlers28937902
pharmgkbrs28937902
gwascentralrs28937902
openSNPrs28937902
23andMers28937902
23andMe allrs28937902
SNP Nexus

SNPshotrs28937902
SNPdbers28937902
MSV3drs28937902
GWAS Ctlgrs28937902
Max Magnitude0
OMIM606596
DescMUSCULAR DYSTROPHY, CONGENITAL, 1C, WITH NEUROLOGIC ABNORMALITIES
Variant0008
Relatedalso
Neighborrs28937905
Distance503
Neighborrs28937900
Distance163


ClinVar
Risk rs28937902(A;A)
Alt rs28937902(A;A)
Reference rs28937902(C;C)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy with mental retardation
Variation info
Gene FKRP
CLNDBN Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B5
Reversed 0
HGVS NC_000019.9:g.47259370C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004446.3,