rs398122379
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs398122379(C;G) |
Make rs398122379(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 69392128 |
Gene | HK1 |
is a | snp |
is | mentioned by |
dbSNP | rs398122379 |
dbSNP (classic) | rs398122379 |
ClinGen | rs398122379 |
ebi | rs398122379 |
HLI | rs398122379 |
Exac | rs398122379 |
Gnomad | rs398122379 |
Varsome | rs398122379 |
LitVar | rs398122379 |
Map | rs398122379 |
PheGenI | rs398122379 |
Biobank | rs398122379 |
1000 genomes | rs398122379 |
hgdp | rs398122379 |
ensembl | rs398122379 |
geneview | rs398122379 |
scholar | rs398122379 |
rs398122379 | |
pharmgkb | rs398122379 |
gwascentral | rs398122379 |
openSNP | rs398122379 |
23andMe | rs398122379 |
SNPshot | rs398122379 |
SNPdbe | rs398122379 |
MSV3d | rs398122379 |
GWAS Ctlg | rs398122379 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122379(G;G) |
Alt | rs398122379(G;G) |
Reference | Rs398122379(C;C) |
Significance | Pathogenic |
Disease | Hemolytic anemia due to hexokinase deficiency |
Variation | info |
Gene | HK1 |
CLNDBN | Hemolytic anemia due to hexokinase deficiency |
Reversed | 0 |
HGVS | NC_000010.10:g.71151884C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000049268.26, |