rs140243105
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs140243105(C;T) |
Make rs140243105(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 39912909 |
Gene | MOCS1 |
is a | snp |
is | mentioned by |
dbSNP | rs140243105 |
dbSNP (classic) | rs140243105 |
ClinGen | rs140243105 |
ebi | rs140243105 |
HLI | rs140243105 |
Exac | rs140243105 |
Gnomad | rs140243105 |
Varsome | rs140243105 |
LitVar | rs140243105 |
Map | rs140243105 |
PheGenI | rs140243105 |
Biobank | rs140243105 |
1000 genomes | rs140243105 |
hgdp | rs140243105 |
ensembl | rs140243105 |
geneview | rs140243105 |
scholar | rs140243105 |
rs140243105 | |
pharmgkb | rs140243105 |
gwascentral | rs140243105 |
openSNP | rs140243105 |
23andMe | rs140243105 |
SNPshot | rs140243105 |
SNPdbe | rs140243105 |
MSV3d | rs140243105 |
GWAS Ctlg | rs140243105 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs140243105(G;G) rs140243105(T;T) |
Alt | rs140243105(G;G) rs140243105(T;T) |
Reference | Rs140243105(C;C) |
Significance | Probable-non-pathogenic |
Disease | Molybdenum cofactor deficiency Molybdenum cofactor deficiency not provided |
Variation | info |
Gene | MOCS1 |
CLNDBN | Molybdenum cofactor deficiency, complementation group A Molybdenum cofactor deficiency not provided |
Reversed | 0 |
HGVS | NC_000006.11:g.39880653C>T |
CLNSRC | |
CLNACC | RCV000190510.2, RCV000342974.1, RCV000415797.1, |