rs119468010
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs119468010(C;T) |
Make rs119468010(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 58272835 |
Gene | MPO |
is a | snp |
is | mentioned by |
dbSNP | rs119468010 |
dbSNP (classic) | rs119468010 |
ClinGen | rs119468010 |
ebi | rs119468010 |
HLI | rs119468010 |
Exac | rs119468010 |
Gnomad | rs119468010 |
Varsome | rs119468010 |
LitVar | rs119468010 |
Map | rs119468010 |
PheGenI | rs119468010 |
Biobank | rs119468010 |
1000 genomes | rs119468010 |
hgdp | rs119468010 |
ensembl | rs119468010 |
geneview | rs119468010 |
scholar | rs119468010 |
rs119468010 | |
pharmgkb | rs119468010 |
gwascentral | rs119468010 |
openSNP | rs119468010 |
23andMe | rs119468010 |
SNPshot | rs119468010 |
SNPdbe | rs119468010 |
MSV3d | rs119468010 |
GWAS Ctlg | rs119468010 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs119468010(T;T) |
Alt | rs119468010(T;T) |
Reference | Rs119468010(C;C) |
Significance | Pathogenic |
Disease | Myeloperoxidase deficiency not provided |
Variation | info |
Gene | MPO |
CLNDBN | Myeloperoxidase deficiency not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.56350196G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003810.4, RCV000366635.1, |