rs28939094
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs28939094(A;G) |
Make rs28939094(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 50628133 |
Gene | ATL1 |
is a | snp |
is | mentioned by |
dbSNP | rs28939094 |
dbSNP (classic) | rs28939094 |
ClinGen | rs28939094 |
ebi | rs28939094 |
HLI | rs28939094 |
Exac | rs28939094 |
Gnomad | rs28939094 |
Varsome | rs28939094 |
LitVar | rs28939094 |
Map | rs28939094 |
PheGenI | rs28939094 |
Biobank | rs28939094 |
1000 genomes | rs28939094 |
hgdp | rs28939094 |
ensembl | rs28939094 |
geneview | rs28939094 |
scholar | rs28939094 |
rs28939094 | |
pharmgkb | rs28939094 |
gwascentral | rs28939094 |
openSNP | rs28939094 |
23andMe | rs28939094 |
SNPshot | rs28939094 |
SNPdbe | rs28939094 |
MSV3d | rs28939094 |
GWAS Ctlg | rs28939094 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28939094(G;G) |
Alt | rs28939094(G;G) |
Reference | Rs28939094(A;A) |
Significance | Pathogenic |
Disease | Spastic paraplegia 3 |
Variation | info |
Gene | ATL1 |
CLNDBN | Spastic paraplegia 3 |
Reversed | 0 |
HGVS | NC_000014.8:g.51094851A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000004599.2, |