rs121913579
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121913579(C;G) |
Make rs121913579(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 236885202 |
Gene | MTR |
is a | snp |
is | mentioned by |
dbSNP | rs121913579 |
dbSNP (classic) | rs121913579 |
ClinGen | rs121913579 |
ebi | rs121913579 |
HLI | rs121913579 |
Exac | rs121913579 |
Gnomad | rs121913579 |
Varsome | rs121913579 |
LitVar | rs121913579 |
Map | rs121913579 |
PheGenI | rs121913579 |
Biobank | rs121913579 |
1000 genomes | rs121913579 |
hgdp | rs121913579 |
ensembl | rs121913579 |
geneview | rs121913579 |
scholar | rs121913579 |
rs121913579 | |
pharmgkb | rs121913579 |
gwascentral | rs121913579 |
openSNP | rs121913579 |
23andMe | rs121913579 |
SNPshot | rs121913579 |
SNPdbe | rs121913579 |
MSV3d | rs121913579 |
GWAS Ctlg | rs121913579 |
Merged from | Rs28933097 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913579(G;G) |
Alt | rs121913579(G;G) |
Reference | Rs121913579(C;C) |
Significance | Pathogenic |
Disease | METHYLCOBALAMIN DEFICIENCY |
Variation | info |
Gene | MTR |
CLNDBN | METHYLCOBALAMIN DEFICIENCY, cblG TYPE |
Reversed | 0 |
HGVS | NC_000001.10:g.237048502C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015350.27, |