rs797044444
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CT;CT) | 0 | common in clinvar |
Make rs797044444(-;-) |
Make rs797044444(-;TC) |
Make rs797044444(TC;TC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 236861195 |
Gene | MTR |
is a | snp |
is | mentioned by |
dbSNP | rs797044444 |
dbSNP (classic) | rs797044444 |
ClinGen | rs797044444 |
ebi | rs797044444 |
HLI | rs797044444 |
Exac | rs797044444 |
Gnomad | rs797044444 |
Varsome | rs797044444 |
LitVar | rs797044444 |
Map | rs797044444 |
PheGenI | rs797044444 |
Biobank | rs797044444 |
1000 genomes | rs797044444 |
hgdp | rs797044444 |
ensembl | rs797044444 |
geneview | rs797044444 |
scholar | rs797044444 |
rs797044444 | |
pharmgkb | rs797044444 |
gwascentral | rs797044444 |
openSNP | rs797044444 |
23andMe | rs797044444 |
SNPshot | rs797044444 |
SNPdbe | rs797044444 |
MSV3d | rs797044444 |
GWAS Ctlg | rs797044444 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044444(-;-) |
Alt | rs797044444(-;-) |
Reference | Rs797044444(CT;CT) |
Significance | Pathogenic |
Disease | METHYLCOBALAMIN DEFICIENCY |
Variation | info |
Gene | MTR |
CLNDBN | METHYLCOBALAMIN DEFICIENCY, cblG TYPE |
Reversed | 0 |
HGVS | NC_000001.10:g.237024495_237024496delTC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015352.27, |