rs121965007
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121965007(A;A) |
Make rs121965007(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 42631431 |
Gene | CYB5R3 |
is a | snp |
is | mentioned by |
dbSNP | rs121965007 |
dbSNP (classic) | rs121965007 |
ClinGen | rs121965007 |
ebi | rs121965007 |
HLI | rs121965007 |
Exac | rs121965007 |
Gnomad | rs121965007 |
Varsome | rs121965007 |
LitVar | rs121965007 |
Map | rs121965007 |
PheGenI | rs121965007 |
Biobank | rs121965007 |
1000 genomes | rs121965007 |
hgdp | rs121965007 |
ensembl | rs121965007 |
geneview | rs121965007 |
scholar | rs121965007 |
rs121965007 | |
pharmgkb | rs121965007 |
gwascentral | rs121965007 |
openSNP | rs121965007 |
23andMe | rs121965007 |
SNPshot | rs121965007 |
SNPdbe | rs121965007 |
MSV3d | rs121965007 |
GWAS Ctlg | rs121965007 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121965007(A;A) |
Alt | rs121965007(A;A) |
Reference | Rs121965007(G;G) |
Significance | Pathogenic |
Disease | Methemoglobinemia |
Variation | info |
Gene | CYB5R3 |
CLNDBN | Methemoglobinemia, type I |
Reversed | 1 |
HGVS | NC_000022.10:g.43027437C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000259.2, |