rs137853204
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs137853204(A;A) |
Make rs137853204(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 127872779 |
Gene | AK1 |
is a | snp |
is | mentioned by |
dbSNP | rs137853204 |
dbSNP (classic) | rs137853204 |
ClinGen | rs137853204 |
ebi | rs137853204 |
HLI | rs137853204 |
Exac | rs137853204 |
Gnomad | rs137853204 |
Varsome | rs137853204 |
LitVar | rs137853204 |
Map | rs137853204 |
PheGenI | rs137853204 |
Biobank | rs137853204 |
1000 genomes | rs137853204 |
hgdp | rs137853204 |
ensembl | rs137853204 |
geneview | rs137853204 |
scholar | rs137853204 |
rs137853204 | |
pharmgkb | rs137853204 |
gwascentral | rs137853204 |
openSNP | rs137853204 |
23andMe | rs137853204 |
SNPshot | rs137853204 |
SNPdbe | rs137853204 |
MSV3d | rs137853204 |
GWAS Ctlg | rs137853204 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137853204(A;A) |
Alt | rs137853204(A;A) |
Reference | Rs137853204(G;G) |
Significance | Pathogenic |
Disease | Adenylate kinase deficiency |
Variation | info |
Gene | AK1 |
CLNDBN | Adenylate kinase deficiency, hemolytic anemia due to |
Reversed | 1 |
HGVS | NC_000009.11:g.130635058C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000019928.27, |