rs794727395
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GT;GT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TG;TG) | 0 | common in clinvar |
Make rs794727395(-;-) |
Make rs794727395(-;TG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 236880829 |
Gene | MTR |
is a | snp |
is | mentioned by |
dbSNP | rs794727395 |
dbSNP (classic) | rs794727395 |
ClinGen | rs794727395 |
ebi | rs794727395 |
HLI | rs794727395 |
Exac | rs794727395 |
Gnomad | rs794727395 |
Varsome | rs794727395 |
LitVar | rs794727395 |
Map | rs794727395 |
PheGenI | rs794727395 |
Biobank | rs794727395 |
1000 genomes | rs794727395 |
hgdp | rs794727395 |
ensembl | rs794727395 |
geneview | rs794727395 |
scholar | rs794727395 |
rs794727395 | |
pharmgkb | rs794727395 |
gwascentral | rs794727395 |
openSNP | rs794727395 |
23andMe | rs794727395 |
SNPshot | rs794727395 |
SNPdbe | rs794727395 |
MSV3d | rs794727395 |
GWAS Ctlg | rs794727395 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727395(-;-) Rs794727395(GT;GT) |
Alt | rs794727395(-;-) Rs794727395(GT;GT) |
Reference | Rs794727395(TG;TG) |
Significance | Pathogenic |
Disease | METHYLCOBALAMIN DEFICIENCY |
Variation | info |
Gene | MTR |
CLNDBN | METHYLCOBALAMIN DEFICIENCY, cblG TYPE |
Reversed | 0 |
HGVS | NC_000001.10:g.237044129_237044130delTG |
CLNSRC | |
CLNACC | RCV000176521.1, |