rs794728012
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(ATG;ATG) | 0 | common in clinvar |
Make rs794728012(-;-) |
Make rs794728012(-;ATG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 42619860 |
Gene | CYB5R3 |
is a | snp |
is | mentioned by |
dbSNP | rs794728012 |
dbSNP (classic) | rs794728012 |
ClinGen | rs794728012 |
ebi | rs794728012 |
HLI | rs794728012 |
Exac | rs794728012 |
Gnomad | rs794728012 |
Varsome | rs794728012 |
LitVar | rs794728012 |
Map | rs794728012 |
PheGenI | rs794728012 |
Biobank | rs794728012 |
1000 genomes | rs794728012 |
hgdp | rs794728012 |
ensembl | rs794728012 |
geneview | rs794728012 |
scholar | rs794728012 |
rs794728012 | |
pharmgkb | rs794728012 |
gwascentral | rs794728012 |
openSNP | rs794728012 |
23andMe | rs794728012 |
SNPshot | rs794728012 |
SNPdbe | rs794728012 |
MSV3d | rs794728012 |
GWAS Ctlg | rs794728012 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794728012(-;-) |
Alt | rs794728012(-;-) |
Reference | Rs794728012(ATG;ATG) |
Significance | Pathogenic |
Disease | Methemoglobinemia type 2 |
Variation | info |
Gene | CYB5R3 |
CLNDBN | Methemoglobinemia type 2 |
Reversed | 1 |
HGVS | NC_000022.10:g.43015866_43015868delCAT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000266.3, |