rs119469014
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs119469014(C;T) |
Make rs119469014(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 58273540 |
Gene | MPO |
is a | snp |
is | mentioned by |
dbSNP | rs119469014 |
dbSNP (classic) | rs119469014 |
ClinGen | rs119469014 |
ebi | rs119469014 |
HLI | rs119469014 |
Exac | rs119469014 |
Gnomad | rs119469014 |
Varsome | rs119469014 |
LitVar | rs119469014 |
Map | rs119469014 |
PheGenI | rs119469014 |
Biobank | rs119469014 |
1000 genomes | rs119469014 |
hgdp | rs119469014 |
ensembl | rs119469014 |
geneview | rs119469014 |
scholar | rs119469014 |
rs119469014 | |
pharmgkb | rs119469014 |
gwascentral | rs119469014 |
openSNP | rs119469014 |
23andMe | rs119469014 |
SNPshot | rs119469014 |
SNPdbe | rs119469014 |
MSV3d | rs119469014 |
GWAS Ctlg | rs119469014 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs119469014(T;T) |
Alt | rs119469014(T;T) |
Reference | Rs119469014(C;C) |
Significance | Pathogenic |
Disease | Myeloperoxidase deficiency |
Variation | info |
Gene | MPO |
CLNDBN | Myeloperoxidase deficiency |
Reversed | 1 |
HGVS | NC_000017.10:g.56350901G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003820.4, |