rs111033552
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs111033552(C;C) |
Make rs111033552(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 116120105 |
Gene | COL10A1, NT5DC1 |
is a | snp |
is | mentioned by |
dbSNP | rs111033552 |
dbSNP (classic) | rs111033552 |
ClinGen | rs111033552 |
ebi | rs111033552 |
HLI | rs111033552 |
Exac | rs111033552 |
Gnomad | rs111033552 |
Varsome | rs111033552 |
LitVar | rs111033552 |
Map | rs111033552 |
PheGenI | rs111033552 |
Biobank | rs111033552 |
1000 genomes | rs111033552 |
hgdp | rs111033552 |
ensembl | rs111033552 |
geneview | rs111033552 |
scholar | rs111033552 |
rs111033552 | |
pharmgkb | rs111033552 |
gwascentral | rs111033552 |
openSNP | rs111033552 |
23andMe | rs111033552 |
SNPshot | rs111033552 |
SNPdbe | rs111033552 |
MSV3d | rs111033552 |
GWAS Ctlg | rs111033552 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033552(C;C) |
Alt | rs111033552(C;C) |
Reference | Rs111033552(T;T) |
Significance | Pathogenic |
Disease | Metaphyseal chondrodysplasia |
Variation | info |
Gene | NT5DC1 COL10A1 |
CLNDBN | Metaphyseal chondrodysplasia, Schmid type |
Reversed | 1 |
HGVS | NC_000006.11:g.116441268A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000019029.27, |