rs121965014
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121965014(C;T) |
Make rs121965014(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 42630986 |
Gene | CYB5R3 |
is a | snp |
is | mentioned by |
dbSNP | rs121965014 |
dbSNP (classic) | rs121965014 |
ClinGen | rs121965014 |
ebi | rs121965014 |
HLI | rs121965014 |
Exac | rs121965014 |
Gnomad | rs121965014 |
Varsome | rs121965014 |
LitVar | rs121965014 |
Map | rs121965014 |
PheGenI | rs121965014 |
Biobank | rs121965014 |
1000 genomes | rs121965014 |
hgdp | rs121965014 |
ensembl | rs121965014 |
geneview | rs121965014 |
scholar | rs121965014 |
rs121965014 | |
pharmgkb | rs121965014 |
gwascentral | rs121965014 |
openSNP | rs121965014 |
23andMe | rs121965014 |
SNPshot | rs121965014 |
SNPdbe | rs121965014 |
MSV3d | rs121965014 |
GWAS Ctlg | rs121965014 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121965014(T;T) |
Alt | rs121965014(T;T) |
Reference | Rs121965014(C;C) |
Significance | Pathogenic |
Disease | Methemoglobinemia type 2 |
Variation | info |
Gene | CYB5R3 |
CLNDBN | Methemoglobinemia type 2 |
Reversed | 1 |
HGVS | NC_000022.10:g.43026992G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000271.3, |