rs759579169
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs759579169(A;A) |
Make rs759579169(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 74893137 |
Gene | MPI |
is a | snp |
is | mentioned by |
dbSNP | rs759579169 |
dbSNP (classic) | rs759579169 |
ClinGen | rs759579169 |
ebi | rs759579169 |
HLI | rs759579169 |
Exac | rs759579169 |
Gnomad | rs759579169 |
Varsome | rs759579169 |
LitVar | rs759579169 |
Map | rs759579169 |
PheGenI | rs759579169 |
Biobank | rs759579169 |
1000 genomes | rs759579169 |
hgdp | rs759579169 |
ensembl | rs759579169 |
geneview | rs759579169 |
scholar | rs759579169 |
rs759579169 | |
pharmgkb | rs759579169 |
gwascentral | rs759579169 |
openSNP | rs759579169 |
23andMe | rs759579169 |
SNPshot | rs759579169 |
SNPdbe | rs759579169 |
MSV3d | rs759579169 |
GWAS Ctlg | rs759579169 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs759579169(A;A) rs759579169(C;C) |
Alt | rs759579169(A;A) rs759579169(C;C) |
Reference | Rs759579169(G;G) |
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.75185478G>A; NC_000015.9:g.75185478G>C |
CLNSRC | |
CLNACC | RCV000411493.1, RCV000412150.1, |