rs387906582
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GAC;GAC) | 0 | common in clinvar |
Make rs387906582(-;-) |
Make rs387906582(-;GAC) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 127868414 |
Gene | AK1 |
is a | snp |
is | mentioned by |
dbSNP | rs387906582 |
dbSNP (classic) | rs387906582 |
ClinGen | rs387906582 |
ebi | rs387906582 |
HLI | rs387906582 |
Exac | rs387906582 |
Gnomad | rs387906582 |
Varsome | rs387906582 |
LitVar | rs387906582 |
Map | rs387906582 |
PheGenI | rs387906582 |
Biobank | rs387906582 |
1000 genomes | rs387906582 |
hgdp | rs387906582 |
ensembl | rs387906582 |
geneview | rs387906582 |
scholar | rs387906582 |
rs387906582 | |
pharmgkb | rs387906582 |
gwascentral | rs387906582 |
openSNP | rs387906582 |
23andMe | rs387906582 |
SNPshot | rs387906582 |
SNPdbe | rs387906582 |
MSV3d | rs387906582 |
GWAS Ctlg | rs387906582 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906582(-;-) |
Alt | rs387906582(-;-) |
Reference | Rs387906582(GAC;GAC) |
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.130630693_130630695delGTC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000019930.26, |