rs200872504
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs200872504(C;T) |
Make rs200872504(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 42628144 |
Gene | CYB5R3 |
is a | snp |
is | mentioned by |
dbSNP | rs200872504 |
dbSNP (classic) | rs200872504 |
ClinGen | rs200872504 |
ebi | rs200872504 |
HLI | rs200872504 |
Exac | rs200872504 |
Gnomad | rs200872504 |
Varsome | rs200872504 |
LitVar | rs200872504 |
Map | rs200872504 |
PheGenI | rs200872504 |
Biobank | rs200872504 |
1000 genomes | rs200872504 |
hgdp | rs200872504 |
ensembl | rs200872504 |
geneview | rs200872504 |
scholar | rs200872504 |
rs200872504 | |
pharmgkb | rs200872504 |
gwascentral | rs200872504 |
openSNP | rs200872504 |
23andMe | rs200872504 |
SNPshot | rs200872504 |
SNPdbe | rs200872504 |
MSV3d | rs200872504 |
GWAS Ctlg | rs200872504 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200872504(G;G) rs200872504(T;T) |
Alt | rs200872504(G;G) rs200872504(T;T) |
Reference | Rs200872504(C;C) |
Significance | Pathogenic |
Disease | Methemoglobinemia type 2 |
Variation | info |
Gene | CYB5R3 |
CLNDBN | Methemoglobinemia type 2 |
Reversed | 0 |
HGVS | NC_000022.10:g.43024150C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000263.2, |