rs111033548
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs111033548(A;A) |
Make rs111033548(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 116120220 |
Gene | COL10A1, NT5DC1 |
is a | snp |
is | mentioned by |
dbSNP | rs111033548 |
dbSNP (classic) | rs111033548 |
ClinGen | rs111033548 |
ebi | rs111033548 |
HLI | rs111033548 |
Exac | rs111033548 |
Gnomad | rs111033548 |
Varsome | rs111033548 |
LitVar | rs111033548 |
Map | rs111033548 |
PheGenI | rs111033548 |
Biobank | rs111033548 |
1000 genomes | rs111033548 |
hgdp | rs111033548 |
ensembl | rs111033548 |
geneview | rs111033548 |
scholar | rs111033548 |
rs111033548 | |
pharmgkb | rs111033548 |
gwascentral | rs111033548 |
openSNP | rs111033548 |
23andMe | rs111033548 |
SNPshot | rs111033548 |
SNPdbe | rs111033548 |
MSV3d | rs111033548 |
GWAS Ctlg | rs111033548 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033548(A;A) |
Alt | rs111033548(A;A) |
Reference | Rs111033548(C;C) |
Significance | Pathogenic |
Disease | Metaphyseal chondrodysplasia |
Variation | info |
Gene | NT5DC1 COL10A1 |
CLNDBN | Metaphyseal chondrodysplasia, Schmid type |
Reversed | 1 |
HGVS | NC_000006.11:g.116441383G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000019030.23, |
[PMID 12554676] Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage.