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rs397509396

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397509396(C;T)
Make rs397509396(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position66346080
GeneBRMS1, B3GNT1
is asnp
is mentioned by
dbSNPrs397509396
ebirs397509396
HLIrs397509396
Exacrs397509396
Varsomers397509396
Maprs397509396
PheGenIrs397509396
hapmaprs397509396
1000 genomesrs397509396
hgdprs397509396
ensemblrs397509396
gopubmedrs397509396
geneviewrs397509396
scholarrs397509396
googlers397509396
pharmgkbrs397509396
gwascentralrs397509396
openSNPrs397509396
23andMers397509396
23andMe allrs397509396
SNP Nexus

SNPshotrs397509396
SNPdbers397509396
MSV3drs397509396
GWAS Ctlgrs397509396
Max Magnitude0
ClinVar
Risk rs397509396(T;T)
Alt rs397509396(T;T)
Reference rs397509396(C;C)
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.66113551G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000043695.5,