rs111033544
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs111033544(G;G) |
Make rs111033544(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 116120324 |
Gene | COL10A1, NT5DC1 |
is a | snp |
is | mentioned by |
dbSNP | rs111033544 |
dbSNP (old) | rs111033544 |
ClinGen | rs111033544 |
ebi | rs111033544 |
HLI | rs111033544 |
Exac | rs111033544 |
Gnomad | rs111033544 |
Varsome | rs111033544 |
Map | rs111033544 |
PheGenI | rs111033544 |
Biobank | rs111033544 |
1000 genomes | rs111033544 |
hgdp | rs111033544 |
ensembl | rs111033544 |
gopubmed | rs111033544 |
geneview | rs111033544 |
scholar | rs111033544 |
rs111033544 | |
pharmgkb | rs111033544 |
gwascentral | rs111033544 |
openSNP | rs111033544 |
23andMe | rs111033544 |
23andMe all | rs111033544 |
SNPshot | rs111033544 |
SNPdbe | rs111033544 |
MSV3d | rs111033544 |
GWAS Ctlg | rs111033544 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033544(G;G) |
Alt | rs111033544(G;G) |
Reference | Rs111033544(T;T) |
Significance | Pathogenic |
Disease | Metaphyseal chondrodysplasia |
Variation | info |
Gene | NT5DC1 COL10A1 |
CLNDBN | Metaphyseal chondrodysplasia, Schmid type |
Reversed | 1 |
HGVS | NC_000006.11:g.116441487A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000019017.27, |
[PMID 8304336] Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid.