rs753961807
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs753961807(G;T) |
Make rs753961807(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 74465183 |
Gene | MOGS |
is a | snp |
is | mentioned by |
dbSNP | rs753961807 |
dbSNP (classic) | rs753961807 |
ClinGen | rs753961807 |
ebi | rs753961807 |
HLI | rs753961807 |
Exac | rs753961807 |
Gnomad | rs753961807 |
Varsome | rs753961807 |
LitVar | rs753961807 |
Map | rs753961807 |
PheGenI | rs753961807 |
Biobank | rs753961807 |
1000 genomes | rs753961807 |
hgdp | rs753961807 |
ensembl | rs753961807 |
geneview | rs753961807 |
scholar | rs753961807 |
rs753961807 | |
pharmgkb | rs753961807 |
gwascentral | rs753961807 |
openSNP | rs753961807 |
23andMe | rs753961807 |
SNPshot | rs753961807 |
SNPdbe | rs753961807 |
MSV3d | rs753961807 |
GWAS Ctlg | rs753961807 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs753961807(T;T) |
Alt | rs753961807(T;T) |
Reference | Rs753961807(G;G) |
Significance | Pathogenic |
Disease | Congenital disorder of glycosylation type 2B |
Variation | info |
Gene | MOGS |
CLNDBN | Congenital disorder of glycosylation type 2B |
Reversed | 0 |
HGVS | NC_000002.11:g.74692310G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000114957.4, |