rs111033589
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs111033589(C;C) |
Make rs111033589(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 49091208 |
Gene | DHH, LOC105369759 |
is a | snp |
is | mentioned by |
dbSNP | rs111033589 |
dbSNP (classic) | rs111033589 |
ClinGen | rs111033589 |
ebi | rs111033589 |
HLI | rs111033589 |
Exac | rs111033589 |
Gnomad | rs111033589 |
Varsome | rs111033589 |
LitVar | rs111033589 |
Map | rs111033589 |
PheGenI | rs111033589 |
Biobank | rs111033589 |
1000 genomes | rs111033589 |
hgdp | rs111033589 |
ensembl | rs111033589 |
geneview | rs111033589 |
scholar | rs111033589 |
rs111033589 | |
pharmgkb | rs111033589 |
gwascentral | rs111033589 |
openSNP | rs111033589 |
23andMe | rs111033589 |
SNPshot | rs111033589 |
SNPdbe | rs111033589 |
MSV3d | rs111033589 |
GWAS Ctlg | rs111033589 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033589(C;C) |
Alt | rs111033589(C;C) |
Reference | Rs111033589(T;T) |
Significance | Pathogenic |
Disease | 46 |
Variation | info |
Gene | DHH |
CLNDBN | 46,XY gonadal dysgenesis, complete, dhh-related |
Reversed | 1 |
HGVS | NC_000012.11:g.49484991A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005314.3, |