rs398122798
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TGAC;TGAC) | 0 | common in clinvar |
Make rs398122798(-;-) |
Make rs398122798(-;TGAC) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 53101387 |
Gene | MOCS2 |
is a | snp |
is | mentioned by |
dbSNP | rs398122798 |
dbSNP (classic) | rs398122798 |
ClinGen | rs398122798 |
ebi | rs398122798 |
HLI | rs398122798 |
Exac | rs398122798 |
Gnomad | rs398122798 |
Varsome | rs398122798 |
LitVar | rs398122798 |
Map | rs398122798 |
PheGenI | rs398122798 |
Biobank | rs398122798 |
1000 genomes | rs398122798 |
hgdp | rs398122798 |
ensembl | rs398122798 |
geneview | rs398122798 |
scholar | rs398122798 |
rs398122798 | |
pharmgkb | rs398122798 |
gwascentral | rs398122798 |
openSNP | rs398122798 |
23andMe | rs398122798 |
SNPshot | rs398122798 |
SNPdbe | rs398122798 |
MSV3d | rs398122798 |
GWAS Ctlg | rs398122798 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122798(-;-) |
Alt | rs398122798(-;-) |
Reference | Rs398122798(TGAC;TGAC) |
Significance | Pathogenic |
Disease | Molybdenum cofactor deficiency Molybdenum cofactor deficiency |
Variation | info |
Gene | MOCS2 |
CLNDBN | Molybdenum cofactor deficiency, complementation group B Molybdenum cofactor deficiency |
Reversed | 0 |
HGVS | NC_000005.9:g.52397217_52397220delTGAC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006484.4, RCV000288995.1, |