rs398122906
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs398122906(A;A) |
Make rs398122906(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 144058129 |
Gene | MIR6846, OPLAH |
is a | snp |
is | mentioned by |
dbSNP | rs398122906 |
dbSNP (classic) | rs398122906 |
ClinGen | rs398122906 |
ebi | rs398122906 |
HLI | rs398122906 |
Exac | rs398122906 |
Gnomad | rs398122906 |
Varsome | rs398122906 |
LitVar | rs398122906 |
Map | rs398122906 |
PheGenI | rs398122906 |
Biobank | rs398122906 |
1000 genomes | rs398122906 |
hgdp | rs398122906 |
ensembl | rs398122906 |
geneview | rs398122906 |
scholar | rs398122906 |
rs398122906 | |
pharmgkb | rs398122906 |
gwascentral | rs398122906 |
openSNP | rs398122906 |
23andMe | rs398122906 |
SNPshot | rs398122906 |
SNPdbe | rs398122906 |
MSV3d | rs398122906 |
GWAS Ctlg | rs398122906 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122906(A;A) |
Alt | rs398122906(A;A) |
Reference | Rs398122906(C;C) |
Significance | Pathogenic |
Disease | 5-Oxoprolinase deficiency |
Variation | info |
Gene | MIR6846 OPLAH |
CLNDBN | 5-Oxoprolinase deficiency |
Reversed | 1 |
HGVS | NC_000008.10:g.145113032G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032835.3, |