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rs730882237

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs730882237(-;-)
Make rs730882237(-;TT)
Make rs730882237(TT;TT)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position66346724
GeneBRMS1, B4GAT1, LOC102724064, LOC105369272
is asnp
is mentioned by
dbSNPrs730882237
ebirs730882237
HLIrs730882237
Exacrs730882237
Varsomers730882237
Maprs730882237
PheGenIrs730882237
hapmaprs730882237
1000 genomesrs730882237
hgdprs730882237
ensemblrs730882237
gopubmedrs730882237
geneviewrs730882237
scholarrs730882237
googlers730882237
pharmgkbrs730882237
gwascentralrs730882237
openSNPrs730882237
23andMers730882237
23andMe allrs730882237
SNP Nexus

SNPshotrs730882237
SNPdbers730882237
MSV3drs730882237
GWAS Ctlgrs730882237
Max Magnitude0
ClinVar
Risk rs730882237(TT;TT)
Alt rs730882237(TT;TT)
Reference rs730882237(;)
Significance Probable-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, 1
Reversed 1
HGVS NC_000011.9:g.66114195_66114196insAA
CLNSRC
CLNACC RCV000162167.1,