rs121908609
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121908609(A;C) |
Make rs121908609(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 53098602 |
Gene | MOCS2 |
is a | snp |
is | mentioned by |
dbSNP | rs121908609 |
dbSNP (classic) | rs121908609 |
ClinGen | rs121908609 |
ebi | rs121908609 |
HLI | rs121908609 |
Exac | rs121908609 |
Gnomad | rs121908609 |
Varsome | rs121908609 |
LitVar | rs121908609 |
Map | rs121908609 |
PheGenI | rs121908609 |
Biobank | rs121908609 |
1000 genomes | rs121908609 |
hgdp | rs121908609 |
ensembl | rs121908609 |
geneview | rs121908609 |
scholar | rs121908609 |
rs121908609 | |
pharmgkb | rs121908609 |
gwascentral | rs121908609 |
openSNP | rs121908609 |
23andMe | rs121908609 |
SNPshot | rs121908609 |
SNPdbe | rs121908609 |
MSV3d | rs121908609 |
GWAS Ctlg | rs121908609 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908609(C;C) |
Alt | rs121908609(C;C) |
Reference | Rs121908609(A;A) |
Significance | Pathogenic |
Disease | Molybdenum cofactor deficiency |
Variation | info |
Gene | MOCS2 |
CLNDBN | Molybdenum cofactor deficiency, complementation group B |
Reversed | 1 |
HGVS | NC_000005.9:g.52394432T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006489.5, |