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rs397509397

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397509397(A;G)
Make rs397509397(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position66346129
GeneBRMS1, B3GNT1
is asnp
is mentioned by
dbSNPrs397509397
ebirs397509397
HLIrs397509397
Exacrs397509397
Varsomers397509397
Maprs397509397
PheGenIrs397509397
hapmaprs397509397
1000 genomesrs397509397
hgdprs397509397
ensemblrs397509397
gopubmedrs397509397
geneviewrs397509397
scholarrs397509397
googlers397509397
pharmgkbrs397509397
gwascentralrs397509397
openSNPrs397509397
23andMers397509397
23andMe allrs397509397
SNP Nexus

SNPshotrs397509397
SNPdbers397509397
MSV3drs397509397
GWAS Ctlgrs397509397
Max Magnitude0
ClinVar
Risk rs397509397(G;G)
Alt rs397509397(G;G)
Reference rs397509397(A;A)
Significance Pathogenic
Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation info
Gene B4GAT1 BRMS1
CLNDBN Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13
Reversed 1
HGVS NC_000011.9:g.66113600T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000043695.5,