rs786204593
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(D;D) | 0 | common genotype |
Make rs786204593(-;C) |
Make rs786204593(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 74891400 |
Gene | MPI |
is a | snp |
is | mentioned by |
dbSNP | rs786204593 |
dbSNP (classic) | rs786204593 |
ClinGen | rs786204593 |
ebi | rs786204593 |
HLI | rs786204593 |
Exac | rs786204593 |
Gnomad | rs786204593 |
Varsome | rs786204593 |
LitVar | rs786204593 |
Map | rs786204593 |
PheGenI | rs786204593 |
Biobank | rs786204593 |
1000 genomes | rs786204593 |
hgdp | rs786204593 |
ensembl | rs786204593 |
geneview | rs786204593 |
scholar | rs786204593 |
rs786204593 | |
pharmgkb | rs786204593 |
gwascentral | rs786204593 |
openSNP | rs786204593 |
23andMe | rs786204593 |
SNPshot | rs786204593 |
SNPdbe | rs786204593 |
MSV3d | rs786204593 |
GWAS Ctlg | rs786204593 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204593(C;C) |
Alt | rs786204593(C;C) |
Reference | Rs786204593(-;-) |
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.75183741dupC |
CLNSRC | Counsyl |
CLNACC | RCV000169342.1, |