rs797044467
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs797044467(C;C) |
Make rs797044467(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 127937524 |
Gene | DPM2 |
is a | snp |
is | mentioned by |
dbSNP | rs797044467 |
dbSNP (classic) | rs797044467 |
ClinGen | rs797044467 |
ebi | rs797044467 |
HLI | rs797044467 |
Exac | rs797044467 |
Gnomad | rs797044467 |
Varsome | rs797044467 |
LitVar | rs797044467 |
Map | rs797044467 |
PheGenI | rs797044467 |
Biobank | rs797044467 |
1000 genomes | rs797044467 |
hgdp | rs797044467 |
ensembl | rs797044467 |
geneview | rs797044467 |
scholar | rs797044467 |
rs797044467 | |
pharmgkb | rs797044467 |
gwascentral | rs797044467 |
openSNP | rs797044467 |
23andMe | rs797044467 |
SNPshot | rs797044467 |
SNPdbe | rs797044467 |
MSV3d | rs797044467 |
GWAS Ctlg | rs797044467 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044467(C;C) |
Alt | rs797044467(C;C) |
Reference | Rs797044467(G;G) |
Significance | Pathogenic |
Disease | Congenital disorder of glycosylation type 1u |
Variation | info |
Gene | DPM2 |
CLNDBN | Congenital disorder of glycosylation type 1u |
Reversed | 1 |
HGVS | NC_000009.11:g.130699803C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032642.5, |