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rs587777223

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777223(A;G)
Make rs587777223(G;G)
ReferenceGRCh38 38.1/142
Chromosome19
Position46755451
GeneFKRP
is asnp
is mentioned by
dbSNPrs587777223
ebirs587777223
HLIrs587777223
Exacrs587777223
Varsomers587777223
Maprs587777223
PheGenIrs587777223
hapmaprs587777223
1000 genomesrs587777223
hgdprs587777223
ensemblrs587777223
gopubmedrs587777223
geneviewrs587777223
scholarrs587777223
googlers587777223
pharmgkbrs587777223
gwascentralrs587777223
openSNPrs587777223
23andMers587777223
23andMe allrs587777223
SNP Nexus

SNPshotrs587777223
SNPdbers587777223
MSV3drs587777223
GWAS Ctlgrs587777223
Max Magnitude0
ClinVar
Risk rs587777223(G;G)
Alt rs587777223(G;G)
Reference rs587777223(A;A)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
Variation info
Gene FKRP
CLNDBN Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
Reversed 0
HGVS NC_000019.9:g.47258708A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000106303.3,