rs80356713
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs80356713(G;T) |
Make rs80356713(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 75070499 |
Gene | ABCB7 |
is a | snp |
is | mentioned by |
dbSNP | rs80356713 |
dbSNP (classic) | rs80356713 |
ClinGen | rs80356713 |
ebi | rs80356713 |
HLI | rs80356713 |
Exac | rs80356713 |
Gnomad | rs80356713 |
Varsome | rs80356713 |
LitVar | rs80356713 |
Map | rs80356713 |
PheGenI | rs80356713 |
Biobank | rs80356713 |
1000 genomes | rs80356713 |
hgdp | rs80356713 |
ensembl | rs80356713 |
geneview | rs80356713 |
scholar | rs80356713 |
rs80356713 | |
pharmgkb | rs80356713 |
gwascentral | rs80356713 |
openSNP | rs80356713 |
23andMe | rs80356713 |
SNPshot | rs80356713 |
SNPdbe | rs80356713 |
MSV3d | rs80356713 |
GWAS Ctlg | rs80356713 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80356713(C;C) rs80356713(T;T) |
Alt | rs80356713(C;C) rs80356713(T;T) |
Reference | Rs80356713(G;G) |
Significance | Pathogenic |
Disease | Anemia sideroblastic and spinocerebellar ataxia |
Variation | info |
Gene | ABCB7 |
CLNDBN | Anemia sideroblastic and spinocerebellar ataxia |
Reversed | 1 |
HGVS | NC_000023.10:g.74290334C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012332.24, |
[PMID 11843825] X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L.