rs786205138
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs786205138(A;G) |
Make rs786205138(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 72294047 |
Gene | CLPB |
is a | snp |
is | mentioned by |
dbSNP | rs786205138 |
dbSNP (classic) | rs786205138 |
ClinGen | rs786205138 |
ebi | rs786205138 |
HLI | rs786205138 |
Exac | rs786205138 |
Gnomad | rs786205138 |
Varsome | rs786205138 |
LitVar | rs786205138 |
Map | rs786205138 |
PheGenI | rs786205138 |
Biobank | rs786205138 |
1000 genomes | rs786205138 |
hgdp | rs786205138 |
ensembl | rs786205138 |
geneview | rs786205138 |
scholar | rs786205138 |
rs786205138 | |
pharmgkb | rs786205138 |
gwascentral | rs786205138 |
openSNP | rs786205138 |
23andMe | rs786205138 |
SNPshot | rs786205138 |
SNPdbe | rs786205138 |
MSV3d | rs786205138 |
GWAS Ctlg | rs786205138 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205138(G;G) |
Alt | rs786205138(G;G) |
Reference | Rs786205138(A;A) |
Significance | Pathogenic |
Disease | 3-methylglutaconic aciduria with cataracts |
Variation | info |
Gene | CLPB |
CLNDBN | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia |
Reversed | 1 |
HGVS | NC_000011.9:g.72005091T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000167541.4, |