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rs398122382

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398122382(C;T)
Make rs398122382(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position57630182
GeneB4GALNT1
is asnp
is mentioned by
dbSNPrs398122382
ebirs398122382
HLIrs398122382
Exacrs398122382
Varsomers398122382
Maprs398122382
PheGenIrs398122382
hapmaprs398122382
1000 genomesrs398122382
hgdprs398122382
ensemblrs398122382
gopubmedrs398122382
geneviewrs398122382
scholarrs398122382
googlers398122382
pharmgkbrs398122382
gwascentralrs398122382
openSNPrs398122382
23andMers398122382
23andMe allrs398122382
SNP Nexus

SNPshotrs398122382
SNPdbers398122382
MSV3drs398122382
GWAS Ctlgrs398122382
Max Magnitude0
ClinVar
Risk rs398122382(T;T)
Alt rs398122382(T;T)
Reference rs398122382(C;C)
Significance Pathogenic
Disease Spastic paraplegia 26
Variation info
Gene B4GALNT1
CLNDBN Spastic paraplegia 26
Reversed 1
HGVS NC_000012.11:g.58023965G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000054420.3,