rs587777229
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs587777229(G;G) |
Make rs587777229(G;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 35309930 |
Gene | MAG |
is a | snp |
is | mentioned by |
dbSNP | rs587777229 |
dbSNP (classic) | rs587777229 |
ClinGen | rs587777229 |
ebi | rs587777229 |
HLI | rs587777229 |
Exac | rs587777229 |
Gnomad | rs587777229 |
Varsome | rs587777229 |
LitVar | rs587777229 |
Map | rs587777229 |
PheGenI | rs587777229 |
Biobank | rs587777229 |
1000 genomes | rs587777229 |
hgdp | rs587777229 |
ensembl | rs587777229 |
geneview | rs587777229 |
scholar | rs587777229 |
rs587777229 | |
pharmgkb | rs587777229 |
gwascentral | rs587777229 |
openSNP | rs587777229 |
23andMe | rs587777229 |
SNPshot | rs587777229 |
SNPdbe | rs587777229 |
MSV3d | rs587777229 |
GWAS Ctlg | rs587777229 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777229(G;G) |
Alt | rs587777229(G;G) |
Reference | Rs587777229(T;T) |
Significance | Pathogenic |
Disease | Spastic paraplegia 75 |
Variation | info |
Gene | MAG |
CLNDBN | Spastic paraplegia 75, autosomal recessive |
Reversed | 0 |
HGVS | NC_000019.9:g.35800833T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000106310.2, |