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rs587777821

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777821(A;A)
Make rs587777821(A;C)
ReferenceGRCh38 38.1/142
Chromosome1
Position46192307
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs587777821
ebirs587777821
HLIrs587777821
Exacrs587777821
Varsomers587777821
Maprs587777821
PheGenIrs587777821
hapmaprs587777821
1000 genomesrs587777821
hgdprs587777821
ensemblrs587777821
gopubmedrs587777821
geneviewrs587777821
scholarrs587777821
googlers587777821
pharmgkbrs587777821
gwascentralrs587777821
openSNPrs587777821
23andMers587777821
23andMe allrs587777821
SNP Nexus

SNPshotrs587777821
SNPdbers587777821
MSV3drs587777821
GWAS Ctlgrs587777821
Max Magnitude0
ClinVar
Risk rs587777821(A,G,T;A,G,T)
Alt rs587777821(A,G,T;A,G,T)
Reference rs587777821(C;C)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation info
Gene POMGNT1
CLNDBN Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
Reversed 0
HGVS NC_000001.10:g.46657979C>A; NC_000001.10:g.46657979C>G; NC_000001.10:g.46657979C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004193.3, RCV000192386.1, RCV000004194.3,