rs797044850
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs797044850(A;G) |
Make rs797044850(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 32127017 |
Gene | SPAST |
is a | snp |
is | mentioned by |
dbSNP | rs797044850 |
dbSNP (classic) | rs797044850 |
ClinGen | rs797044850 |
ebi | rs797044850 |
HLI | rs797044850 |
Exac | rs797044850 |
Gnomad | rs797044850 |
Varsome | rs797044850 |
LitVar | rs797044850 |
Map | rs797044850 |
PheGenI | rs797044850 |
Biobank | rs797044850 |
1000 genomes | rs797044850 |
hgdp | rs797044850 |
ensembl | rs797044850 |
geneview | rs797044850 |
scholar | rs797044850 |
rs797044850 | |
pharmgkb | rs797044850 |
gwascentral | rs797044850 |
openSNP | rs797044850 |
23andMe | rs797044850 |
SNPshot | rs797044850 |
SNPdbe | rs797044850 |
MSV3d | rs797044850 |
GWAS Ctlg | rs797044850 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044850(G;G) |
Alt | rs797044850(G;G) |
Reference | Rs797044850(A;A) |
Significance | Pathogenic |
Disease | Inborn genetic diseases Spastic paraplegia 4 not provided |
Variation | info |
Gene | SPAST |
CLNDBN | Inborn genetic diseases Spastic paraplegia 4, autosomal dominant not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.32352086A>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000190649.1, RCV000206286.1, RCV000478313.1, |