rs145704441
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs145704441(C;T) |
Make rs145704441(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 55009268 |
Gene | ALAS2 |
is a | snp |
is | mentioned by |
dbSNP | rs145704441 |
dbSNP (classic) | rs145704441 |
ClinGen | rs145704441 |
ebi | rs145704441 |
HLI | rs145704441 |
Exac | rs145704441 |
Gnomad | rs145704441 |
Varsome | rs145704441 |
LitVar | rs145704441 |
Map | rs145704441 |
PheGenI | rs145704441 |
Biobank | rs145704441 |
1000 genomes | rs145704441 |
hgdp | rs145704441 |
ensembl | rs145704441 |
geneview | rs145704441 |
scholar | rs145704441 |
rs145704441 | |
pharmgkb | rs145704441 |
gwascentral | rs145704441 |
openSNP | rs145704441 |
23andMe | rs145704441 |
SNPshot | rs145704441 |
SNPdbe | rs145704441 |
MSV3d | rs145704441 |
GWAS Ctlg | rs145704441 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs145704441(G;G) rs145704441(T;T) |
Alt | rs145704441(G;G) rs145704441(T;T) |
Reference | Rs145704441(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided not specified Sideroblastic Anemia and Ataxia |
Variation | info |
Gene | ALAS2 |
CLNDBN | not provided not specified Sideroblastic Anemia and Ataxia |
Reversed | 0 |
HGVS | NC_000023.10:g.55035701C>G; NC_000023.10:g.55035701C>T |
CLNSRC | |
CLNACC | RCV000196889.2, RCV000200067.3, RCV000285314.1, |