rs121965017
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GAG;GAG) | 0 | common in clinvar |
Make rs121965017(-;-) |
Make rs121965017(-;GAG) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 42619911 |
Gene | CYB5R3 |
is a | snp |
is | mentioned by |
dbSNP | rs121965017 |
dbSNP (classic) | rs121965017 |
ClinGen | rs121965017 |
ebi | rs121965017 |
HLI | rs121965017 |
Exac | rs121965017 |
Gnomad | rs121965017 |
Varsome | rs121965017 |
LitVar | rs121965017 |
Map | rs121965017 |
PheGenI | rs121965017 |
Biobank | rs121965017 |
1000 genomes | rs121965017 |
hgdp | rs121965017 |
ensembl | rs121965017 |
geneview | rs121965017 |
scholar | rs121965017 |
rs121965017 | |
pharmgkb | rs121965017 |
gwascentral | rs121965017 |
openSNP | rs121965017 |
23andMe | rs121965017 |
SNPshot | rs121965017 |
SNPdbe | rs121965017 |
MSV3d | rs121965017 |
GWAS Ctlg | rs121965017 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121965017(-;-) |
Alt | rs121965017(-;-) |
Reference | Rs121965017(GAG;GAG) |
Significance | Pathogenic |
Disease | Methemoglobinemia |
Variation | info |
Gene | CYB5R3 |
CLNDBN | Methemoglobinemia, type I |
Reversed | 1 |
HGVS | NC_000022.10:g.43015917_43015919delCTC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000275.3, |