rs121912886
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121912886(C;T) |
Make rs121912886(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 47974090 |
Gene | COL2A1 |
is a | snp |
is | mentioned by |
dbSNP | rs121912886 |
dbSNP (classic) | rs121912886 |
ClinGen | rs121912886 |
ebi | rs121912886 |
HLI | rs121912886 |
Exac | rs121912886 |
Gnomad | rs121912886 |
Varsome | rs121912886 |
LitVar | rs121912886 |
Map | rs121912886 |
PheGenI | rs121912886 |
Biobank | rs121912886 |
1000 genomes | rs121912886 |
hgdp | rs121912886 |
ensembl | rs121912886 |
geneview | rs121912886 |
scholar | rs121912886 |
rs121912886 | |
pharmgkb | rs121912886 |
gwascentral | rs121912886 |
openSNP | rs121912886 |
23andMe | rs121912886 |
SNPshot | rs121912886 |
SNPdbe | rs121912886 |
MSV3d | rs121912886 |
GWAS Ctlg | rs121912886 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121912886(A;A) rs121912886(T;T) |
Alt | rs121912886(A;A) rs121912886(T;T) |
Reference | Rs121912886(C;C) |
Significance | Pathogenic |
Disease | Spondyloepiphyseal dysplasia congenita Spondyloperipheral dysplasia |
Variation | info |
Gene | COL2A1 |
CLNDBN | Spondyloepiphyseal dysplasia congenita Spondyloperipheral dysplasia |
Reversed | 1 |
HGVS | NC_000012.11:g.48367873G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000018928.23, RCV000190574.1, |