rs398122799
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs398122799(-;C) |
Make rs398122799(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 53107109 |
Gene | MOCS2 |
is a | snp |
is | mentioned by |
dbSNP | rs398122799 |
dbSNP (classic) | rs398122799 |
ClinGen | rs398122799 |
ebi | rs398122799 |
HLI | rs398122799 |
Exac | rs398122799 |
Gnomad | rs398122799 |
Varsome | rs398122799 |
LitVar | rs398122799 |
Map | rs398122799 |
PheGenI | rs398122799 |
Biobank | rs398122799 |
1000 genomes | rs398122799 |
hgdp | rs398122799 |
ensembl | rs398122799 |
geneview | rs398122799 |
scholar | rs398122799 |
rs398122799 | |
pharmgkb | rs398122799 |
gwascentral | rs398122799 |
openSNP | rs398122799 |
23andMe | rs398122799 |
SNPshot | rs398122799 |
SNPdbe | rs398122799 |
MSV3d | rs398122799 |
GWAS Ctlg | rs398122799 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122799(C;C) |
Alt | rs398122799(C;C) |
Reference | Rs398122799(-;-) |
Significance | Pathogenic |
Disease | Molybdenum cofactor deficiency |
Variation | info |
Gene | MOCS2 |
CLNDBN | Molybdenum cofactor deficiency, complementation group B |
Reversed | 1 |
HGVS | NC_000005.9:g.52402940dupG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006485.4, |