rs121913582
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121913582(C;C) |
Make rs121913582(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 236835586 |
Gene | MTR |
is a | snp |
is | mentioned by |
dbSNP | rs121913582 |
dbSNP (classic) | rs121913582 |
ClinGen | rs121913582 |
ebi | rs121913582 |
HLI | rs121913582 |
Exac | rs121913582 |
Gnomad | rs121913582 |
Varsome | rs121913582 |
LitVar | rs121913582 |
Map | rs121913582 |
PheGenI | rs121913582 |
Biobank | rs121913582 |
1000 genomes | rs121913582 |
hgdp | rs121913582 |
ensembl | rs121913582 |
geneview | rs121913582 |
scholar | rs121913582 |
rs121913582 | |
pharmgkb | rs121913582 |
gwascentral | rs121913582 |
openSNP | rs121913582 |
23andMe | rs121913582 |
SNPshot | rs121913582 |
SNPdbe | rs121913582 |
MSV3d | rs121913582 |
GWAS Ctlg | rs121913582 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913582(C;C) |
Alt | rs121913582(C;C) |
Reference | Rs121913582(G;G) |
Significance | Pathogenic |
Disease | METHYLCOBALAMIN DEFICIENCY |
Variation | info |
Gene | MTR |
CLNDBN | METHYLCOBALAMIN DEFICIENCY, cblG TYPE |
Reversed | 0 |
HGVS | NC_000001.10:g.236998886G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015358.27, |