rs137853062
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs137853062(C;T) |
Make rs137853062(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 7891405 |
Gene | MTRR |
is a | snp |
is | mentioned by |
dbSNP | rs137853062 |
dbSNP (classic) | rs137853062 |
ClinGen | rs137853062 |
ebi | rs137853062 |
HLI | rs137853062 |
Exac | rs137853062 |
Gnomad | rs137853062 |
Varsome | rs137853062 |
LitVar | rs137853062 |
Map | rs137853062 |
PheGenI | rs137853062 |
Biobank | rs137853062 |
1000 genomes | rs137853062 |
hgdp | rs137853062 |
ensembl | rs137853062 |
geneview | rs137853062 |
scholar | rs137853062 |
rs137853062 | |
pharmgkb | rs137853062 |
gwascentral | rs137853062 |
openSNP | rs137853062 |
23andMe | rs137853062 |
SNPshot | rs137853062 |
SNPdbe | rs137853062 |
MSV3d | rs137853062 |
GWAS Ctlg | rs137853062 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137853062(T;T) |
Alt | rs137853062(T;T) |
Reference | Rs137853062(C;C) |
Significance | Pathogenic |
Disease | Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism |
Variation | info |
Gene | MTRR |
CLNDBN | Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type |
Reversed | 0 |
HGVS | NC_000005.9:g.7891518C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007449.3, |