rs121918332
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121918332(A;T) |
Make rs121918332(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 39394574 |
Gene | SLC25A38 |
is a | snp |
is | mentioned by |
dbSNP | rs121918332 |
dbSNP (classic) | rs121918332 |
ClinGen | rs121918332 |
ebi | rs121918332 |
HLI | rs121918332 |
Exac | rs121918332 |
Gnomad | rs121918332 |
Varsome | rs121918332 |
LitVar | rs121918332 |
Map | rs121918332 |
PheGenI | rs121918332 |
Biobank | rs121918332 |
1000 genomes | rs121918332 |
hgdp | rs121918332 |
ensembl | rs121918332 |
geneview | rs121918332 |
scholar | rs121918332 |
rs121918332 | |
pharmgkb | rs121918332 |
gwascentral | rs121918332 |
openSNP | rs121918332 |
23andMe | rs121918332 |
SNPshot | rs121918332 |
SNPdbe | rs121918332 |
MSV3d | rs121918332 |
GWAS Ctlg | rs121918332 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918332(T;T) |
Alt | rs121918332(T;T) |
Reference | Rs121918332(A;A) |
Significance | Pathogenic |
Disease | Anemia |
Variation | info |
Gene | SLC25A38 |
CLNDBN | Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive |
Reversed | 0 |
HGVS | NC_000003.11:g.39436065A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001181.3, |