rs28928906
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs28928906(A;A) |
Make rs28928906(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 15 |
Position | 74897050 |
Gene | MPI |
is a | snp |
is | mentioned by |
dbSNP | rs28928906 |
dbSNP (classic) | rs28928906 |
ClinGen | rs28928906 |
ebi | rs28928906 |
HLI | rs28928906 |
Exac | rs28928906 |
Gnomad | rs28928906 |
Varsome | rs28928906 |
LitVar | rs28928906 |
Map | rs28928906 |
PheGenI | rs28928906 |
Biobank | rs28928906 |
1000 genomes | rs28928906 |
hgdp | rs28928906 |
ensembl | rs28928906 |
geneview | rs28928906 |
scholar | rs28928906 |
rs28928906 | |
pharmgkb | rs28928906 |
gwascentral | rs28928906 |
openSNP | rs28928906 |
23andMe | rs28928906 |
SNPshot | rs28928906 |
SNPdbe | rs28928906 |
MSV3d | rs28928906 |
GWAS Ctlg | rs28928906 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28928906(A;A) |
Alt | rs28928906(A;A) |
Reference | Rs28928906(G;G) |
Significance | 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.75189391G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015423.28, |