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rs28937904

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28937904(G;T)
Make rs28937904(T;T)
ReferenceGRCh38 38.1/142
Chromosome19
Position46756663
GeneFKRP
is asnp
is mentioned by
dbSNPrs28937904
ebirs28937904
HLIrs28937904
Exacrs28937904
Varsomers28937904
Maprs28937904
PheGenIrs28937904
hapmaprs28937904
1000 genomesrs28937904
hgdprs28937904
ensemblrs28937904
gopubmedrs28937904
geneviewrs28937904
scholarrs28937904
googlers28937904
pharmgkbrs28937904
gwascentralrs28937904
openSNPrs28937904
23andMers28937904
23andMe allrs28937904
SNP Nexus

SNPshotrs28937904
SNPdbers28937904
MSV3drs28937904
GWAS Ctlgrs28937904
Max Magnitude0
OMIM606596
DescMUSCULAR DYSTROPHY, CONGENITAL, 1C, WITH NEUROLOGIC ABNORMALITIES
Variant0010
Relatedalso
Neighborrs28937901
Distance267
Neighborrs28937903
Distance151


ClinVar
Risk rs28937904(T;T)
Alt rs28937904(T;T)
Reference rs28937904(G;G)
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.47259920G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004448.3,