rs2301600
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs2301600(C;T) |
Make rs2301600(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 35295965 |
Gene | MAG |
is a | snp |
is | mentioned by |
dbSNP | rs2301600 |
dbSNP (classic) | rs2301600 |
ClinGen | rs2301600 |
ebi | rs2301600 |
HLI | rs2301600 |
Exac | rs2301600 |
Gnomad | rs2301600 |
Varsome | rs2301600 |
LitVar | rs2301600 |
Map | rs2301600 |
PheGenI | rs2301600 |
Biobank | rs2301600 |
1000 genomes | rs2301600 |
hgdp | rs2301600 |
ensembl | rs2301600 |
geneview | rs2301600 |
scholar | rs2301600 |
rs2301600 | |
pharmgkb | rs2301600 |
gwascentral | rs2301600 |
openSNP | rs2301600 |
23andMe | rs2301600 |
SNPshot | rs2301600 |
SNPdbe | rs2301600 |
MSV3d | rs2301600 |
GWAS Ctlg | rs2301600 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs2301600(G;G) rs2301600(T;T) |
Alt | rs2301600(G;G) rs2301600(T;T) |
Reference | Rs2301600(C;C) |
Significance | Pathogenic |
Disease | Spastic paraplegia 75 |
Variation | info |
Gene | MAG |
CLNDBN | Spastic paraplegia 75, autosomal recessive |
Reversed | 0 |
HGVS | NC_000019.9:g.35786868C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000202409.1, |