rs766591558
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs766591558(-;-) |
Make rs766591558(-;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 57631075 |
Gene | B4GALNT1 |
is a | snp |
is | mentioned by |
dbSNP | rs766591558 |
dbSNP (classic) | rs766591558 |
ClinGen | rs766591558 |
ebi | rs766591558 |
HLI | rs766591558 |
Exac | rs766591558 |
Gnomad | rs766591558 |
Varsome | rs766591558 |
LitVar | rs766591558 |
Map | rs766591558 |
PheGenI | rs766591558 |
Biobank | rs766591558 |
1000 genomes | rs766591558 |
hgdp | rs766591558 |
ensembl | rs766591558 |
geneview | rs766591558 |
scholar | rs766591558 |
rs766591558 | |
pharmgkb | rs766591558 |
gwascentral | rs766591558 |
openSNP | rs766591558 |
23andMe | rs766591558 |
SNPshot | rs766591558 |
SNPdbe | rs766591558 |
MSV3d | rs766591558 |
GWAS Ctlg | rs766591558 |
Max Magnitude | 0 |
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, |