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rs863224849

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863224849(-;GAACTGACGGAACTGTGG)
Make rs863224849(GAACTGACGGAACTGTGG;GAACTGACGGAACTGTGG)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position235450253
GeneB3GALNT2
is asnp
is mentioned by
dbSNPrs863224849
dbSNP (old)rs863224849
ClinGenrs863224849
ebirs863224849
HLIrs863224849
Exacrs863224849
Gnomadrs863224849
Varsomers863224849
Maprs863224849
PheGenIrs863224849
Biobankrs863224849
1000 genomesrs863224849
hgdprs863224849
ensemblrs863224849
gopubmedrs863224849
geneviewrs863224849
scholarrs863224849
googlers863224849
pharmgkbrs863224849
gwascentralrs863224849
openSNPrs863224849
23andMers863224849
23andMe allrs863224849
SNP Nexus

SNPshotrs863224849
SNPdbers863224849
MSV3drs863224849
GWAS Ctlgrs863224849
Max Magnitude0
ClinVar
Risk rs863224849(GAACTGACGGAACTGTGG;GAACTGACGGAACTGTGG)
Alt rs863224849(GAACTGACGGAACTGTGG;GAACTGACGGAACTGTGG)
Reference Rs863224849(-;-)
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 1
HGVS NC_000001.10:g.235613569_235613586dup18
CLNSRC
CLNACC RCV000195857.1,