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rs753340395

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs753340395(C;T)
Make rs753340395(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position235458649
GeneB3GALNT2
is asnp
is mentioned by
dbSNPrs753340395
ebirs753340395
HLIrs753340395
Exacrs753340395
Varsomers753340395
Maprs753340395
PheGenIrs753340395
hapmaprs753340395
1000 genomesrs753340395
hgdprs753340395
ensemblrs753340395
gopubmedrs753340395
geneviewrs753340395
scholarrs753340395
googlers753340395
pharmgkbrs753340395
gwascentralrs753340395
openSNPrs753340395
23andMers753340395
23andMe allrs753340395
SNP Nexus

SNPshotrs753340395
SNPdbers753340395
MSV3drs753340395
GWAS Ctlgrs753340395
Max Magnitude0
ClinVar
Risk rs753340395(T;T)
Alt rs753340395(T;T)
Reference rs753340395(C;C)
Significance Probable-Pathogenic
Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation info
Gene B3GALNT2
CLNDBN Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
Reversed 0
HGVS NC_000001.10:g.235621957C>T
CLNSRC
CLNACC RCV000195857.1,