rs141982812
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs141982812(C;T) |
Make rs141982812(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 6 |
Position | 39925677 |
Gene | MOCS1 |
is a | snp |
is | mentioned by |
dbSNP | rs141982812 |
dbSNP (classic) | rs141982812 |
ClinGen | rs141982812 |
ebi | rs141982812 |
HLI | rs141982812 |
Exac | rs141982812 |
Gnomad | rs141982812 |
Varsome | rs141982812 |
LitVar | rs141982812 |
Map | rs141982812 |
PheGenI | rs141982812 |
Biobank | rs141982812 |
1000 genomes | rs141982812 |
hgdp | rs141982812 |
ensembl | rs141982812 |
geneview | rs141982812 |
scholar | rs141982812 |
rs141982812 | |
pharmgkb | rs141982812 |
gwascentral | rs141982812 |
openSNP | rs141982812 |
23andMe | rs141982812 |
SNPshot | rs141982812 |
SNPdbe | rs141982812 |
MSV3d | rs141982812 |
GWAS Ctlg | rs141982812 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs141982812(T;T) |
Alt | rs141982812(T;T) |
Reference | Rs141982812(C;C) |
Significance | Pathogenic |
Disease | Molybdenum cofactor deficiency |
Variation | info |
Gene | MOCS1 |
CLNDBN | Molybdenum cofactor deficiency, complementation group A |
Reversed | 0 |
HGVS | NC_000006.11:g.39893421C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006494.5, |