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rs766591558

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs766591558(-;-)
Make rs766591558(-;G)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position57631075
GeneB4GALNT1
is asnp
is mentioned by
dbSNPrs766591558
dbSNP (classic)rs766591558
ClinGenrs766591558
ebirs766591558
HLIrs766591558
Exacrs766591558
Gnomadrs766591558
Varsomers766591558
LitVarrs766591558
Maprs766591558
PheGenIrs766591558
Biobankrs766591558
1000 genomesrs766591558
hgdprs766591558
ensemblrs766591558
geneviewrs766591558
scholarrs766591558
googlers766591558
pharmgkbrs766591558
gwascentralrs766591558
openSNPrs766591558
23andMers766591558
SNPshotrs766591558
SNPdbers766591558
MSV3drs766591558
GWAS Ctlgrs766591558
Max Magnitude0
ClinVar
Risk rs766591558(-;-)
Alt rs766591558(-;-)
Reference Rs766591558(G;G)
Significance Pathogenic
Disease Spastic paraplegia 26
Variation info
Gene B4GALNT1
CLNDBN Spastic paraplegia 26
Reversed 0
HGVS NC_000012.11:g.58024858delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000054419.3,