rs749911553
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs749911553(C;T) |
Make rs749911553(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 74896208 |
Gene | MPI |
is a | snp |
is | mentioned by |
dbSNP | rs749911553 |
dbSNP (classic) | rs749911553 |
ClinGen | rs749911553 |
ebi | rs749911553 |
HLI | rs749911553 |
Exac | rs749911553 |
Gnomad | rs749911553 |
Varsome | rs749911553 |
LitVar | rs749911553 |
Map | rs749911553 |
PheGenI | rs749911553 |
Biobank | rs749911553 |
1000 genomes | rs749911553 |
hgdp | rs749911553 |
ensembl | rs749911553 |
geneview | rs749911553 |
scholar | rs749911553 |
rs749911553 | |
pharmgkb | rs749911553 |
gwascentral | rs749911553 |
openSNP | rs749911553 |
23andMe | rs749911553 |
SNPshot | rs749911553 |
SNPdbe | rs749911553 |
MSV3d | rs749911553 |
GWAS Ctlg | rs749911553 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs749911553(T;T) |
Alt | rs749911553(T;T) |
Reference | Rs749911553(C;C) |
Significance | Probable-Pathogenic |
Disease | Congenital disorder of glycosylation type 1B |
Variation | info |
Gene | MPI |
CLNDBN | Congenital disorder of glycosylation type 1B |
Reversed | 0 |
HGVS | NC_000015.9:g.75188549C>T |
CLNSRC | |
CLNACC | RCV000410979.1, |