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rs28937901

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28937901(A;A)
Make rs28937901(A;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position46756396
GeneFKRP
is asnp
is mentioned by
dbSNPrs28937901
ebirs28937901
HLIrs28937901
Exacrs28937901
Varsomers28937901
Maprs28937901
PheGenIrs28937901
hapmaprs28937901
1000 genomesrs28937901
hgdprs28937901
ensemblrs28937901
gopubmedrs28937901
geneviewrs28937901
scholarrs28937901
googlers28937901
pharmgkbrs28937901
gwascentralrs28937901
openSNPrs28937901
23andMers28937901
23andMe allrs28937901
SNP Nexus

SNPshotrs28937901
SNPdbers28937901
MSV3drs28937901
GWAS Ctlgrs28937901
Max Magnitude0
OMIM606596
DescMUSCULAR DYSTROPHY, CONGENITAL, 1C, WITH NEUROLOGIC ABNORMALITIES
Variant0007
Relatedalso
Neighborrs28937900
Distance120
Neighborrs28937904
Distance267


ClinVar
Risk rs28937901(A;A)
Alt rs28937901(A;A)
Reference rs28937901(C;C)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy with mental retardation not provided
Variation info
Gene FKRP
CLNDBN Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B5 not provided
Reversed 0
HGVS NC_000019.9:g.47259653C>A; NC_000019.9:g.47259653C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004445.3, RCV000178358.1,