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rs879255242

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs879255242(A;C)
Make rs879255242(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position57627704
GeneB4GALNT1
is asnp
is mentioned by
dbSNPrs879255242
ebirs879255242
HLIrs879255242
Exacrs879255242
Varsomers879255242
Maprs879255242
PheGenIrs879255242
hapmaprs879255242
1000 genomesrs879255242
hgdprs879255242
ensemblrs879255242
gopubmedrs879255242
geneviewrs879255242
scholarrs879255242
googlers879255242
pharmgkbrs879255242
gwascentralrs879255242
openSNPrs879255242
23andMers879255242
23andMe allrs879255242
SNP Nexus

SNPshotrs879255242
SNPdbers879255242
MSV3drs879255242
GWAS Ctlgrs879255242
Max Magnitude0
ClinVar
Risk rs879255242(C;C)
Alt rs879255242(C;C)
Reference rs879255242(A;A)
Significance Pathogenic
Disease Spastic paraplegia 26
Variation info
Gene B4GALNT1
CLNDBN Spastic paraplegia 26
Reversed 1
HGVS NC_000012.11:g.58021487T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000054423.2,