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rs28937900

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5 Limb-girdle muscular dystrophy-dystroglycanopathy
(A;C) 1.5 carrier for Limb-girdle muscular dystrophy-dystroglycanopathy
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome19
Position46756276
GeneFKRP
is asnp
is mentioned by
dbSNPrs28937900
ebirs28937900
HLIrs28937900
Exacrs28937900
Varsomers28937900
Maprs28937900
PheGenIrs28937900
hapmaprs28937900
1000 genomesrs28937900
hgdprs28937900
ensemblrs28937900
gopubmedrs28937900
geneviewrs28937900
scholarrs28937900
googlers28937900
pharmgkbrs28937900
gwascentralrs28937900
openSNPrs28937900
23andMers28937900
23andMe allrs28937900
SNP Nexus

SNPshotrs28937900
SNPdbers28937900
MSV3drs28937900
GWAS Ctlgrs28937900
Max Magnitude5
OMIM606596
DescMUSCULAR DYSTROPHY, LIMB-GIRDLE, 2I
Variant0004
Relatedalso
Neighborrs28937902
Distance163
Neighborrs28937901
Distance120


ClinVar
Risk rs28937900(A;A)
Alt rs28937900(A;A)
Reference rs28937900(C;C)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy-dystroglycanopathy not provided Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Walker-Warburg syndrome
Variation info
Gene FKRP
CLNDBN Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 not provided Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Walker-Warburg syndrome
Reversed 0
HGVS NC_000019.9:g.47259533C>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000004442.3, RCV000082182.5, RCV000178341.1, RCV000178342.1, RCV000226653.1, RCV000231711.1,