rs397518418
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs397518418(-;-) |
Make rs397518418(-;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 39913352 |
Gene | MOCS1 |
is a | snp |
is | mentioned by |
dbSNP | rs397518418 |
dbSNP (classic) | rs397518418 |
ClinGen | rs397518418 |
ebi | rs397518418 |
HLI | rs397518418 |
Exac | rs397518418 |
Gnomad | rs397518418 |
Varsome | rs397518418 |
LitVar | rs397518418 |
Map | rs397518418 |
PheGenI | rs397518418 |
Biobank | rs397518418 |
1000 genomes | rs397518418 |
hgdp | rs397518418 |
ensembl | rs397518418 |
geneview | rs397518418 |
scholar | rs397518418 |
rs397518418 | |
pharmgkb | rs397518418 |
gwascentral | rs397518418 |
openSNP | rs397518418 |
23andMe | rs397518418 |
SNPshot | rs397518418 |
SNPdbe | rs397518418 |
MSV3d | rs397518418 |
GWAS Ctlg | rs397518418 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397518418(-;-) |
Alt | rs397518418(-;-) |
Reference | Rs397518418(T;T) |
Significance | Pathogenic |
Disease | Molybdenum cofactor deficiency |
Variation | info |
Gene | MOCS1 |
CLNDBN | Molybdenum cofactor deficiency, complementation group A |
Reversed | 1 |
HGVS | NC_000006.11:g.39881096delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006491.4, |