rs797044443
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AAT;AAT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TAA;TAA) | 0 | common in clinvar |
Make rs797044443(-;-) |
Make rs797044443(-;AAT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 236880800 |
Gene | MTR |
is a | snp |
is | mentioned by |
dbSNP | rs797044443 |
dbSNP (classic) | rs797044443 |
ClinGen | rs797044443 |
ebi | rs797044443 |
HLI | rs797044443 |
Exac | rs797044443 |
Gnomad | rs797044443 |
Varsome | rs797044443 |
LitVar | rs797044443 |
Map | rs797044443 |
PheGenI | rs797044443 |
Biobank | rs797044443 |
1000 genomes | rs797044443 |
hgdp | rs797044443 |
ensembl | rs797044443 |
geneview | rs797044443 |
scholar | rs797044443 |
rs797044443 | |
pharmgkb | rs797044443 |
gwascentral | rs797044443 |
openSNP | rs797044443 |
23andMe | rs797044443 |
SNPshot | rs797044443 |
SNPdbe | rs797044443 |
MSV3d | rs797044443 |
GWAS Ctlg | rs797044443 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044443(-;-) Rs797044443(TAA;TAA) |
Alt | rs797044443(-;-) Rs797044443(TAA;TAA) |
Reference | Rs797044443(AAT;AAT) |
Significance | Pathogenic |
Disease | METHYLCOBALAMIN DEFICIENCY |
Variation | info |
Gene | MTR |
CLNDBN | METHYLCOBALAMIN DEFICIENCY, cblG TYPE |
Reversed | 0 |
HGVS | NC_000001.10:g.237044100_237044102delAAT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015349.28, |