rs387906941
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs387906941(C;T) |
Make rs387906941(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 50628157 |
Gene | ATL1 |
is a | snp |
is | mentioned by |
dbSNP | rs387906941 |
dbSNP (classic) | rs387906941 |
ClinGen | rs387906941 |
ebi | rs387906941 |
HLI | rs387906941 |
Exac | rs387906941 |
Gnomad | rs387906941 |
Varsome | rs387906941 |
LitVar | rs387906941 |
Map | rs387906941 |
PheGenI | rs387906941 |
Biobank | rs387906941 |
1000 genomes | rs387906941 |
hgdp | rs387906941 |
ensembl | rs387906941 |
geneview | rs387906941 |
scholar | rs387906941 |
rs387906941 | |
pharmgkb | rs387906941 |
gwascentral | rs387906941 |
openSNP | rs387906941 |
23andMe | rs387906941 |
SNPshot | rs387906941 |
SNPdbe | rs387906941 |
MSV3d | rs387906941 |
GWAS Ctlg | rs387906941 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906941(T;T) |
Alt | rs387906941(T;T) |
Reference | Rs387906941(C;C) |
Significance | Pathogenic |
Disease | Spastic paraplegia 3 |
Variation | info |
Gene | ATL1 |
CLNDBN | Spastic paraplegia 3 |
Reversed | 0 |
HGVS | NC_000014.8:g.51094875C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023545.3, |