rs794727339
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs794727339(C;C) |
Make rs794727339(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 47987085 |
Gene | COL2A1 |
is a | snp |
is | mentioned by |
dbSNP | rs794727339 |
dbSNP (classic) | rs794727339 |
ClinGen | rs794727339 |
ebi | rs794727339 |
HLI | rs794727339 |
Exac | rs794727339 |
Gnomad | rs794727339 |
Varsome | rs794727339 |
LitVar | rs794727339 |
Map | rs794727339 |
PheGenI | rs794727339 |
Biobank | rs794727339 |
1000 genomes | rs794727339 |
hgdp | rs794727339 |
ensembl | rs794727339 |
geneview | rs794727339 |
scholar | rs794727339 |
rs794727339 | |
pharmgkb | rs794727339 |
gwascentral | rs794727339 |
openSNP | rs794727339 |
23andMe | rs794727339 |
SNPshot | rs794727339 |
SNPdbe | rs794727339 |
MSV3d | rs794727339 |
GWAS Ctlg | rs794727339 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727339(C;C) |
Alt | rs794727339(C;C) |
Reference | Rs794727339(G;G) |
Significance | Pathogenic |
Disease | Spondyloepiphyseal dysplasia congenita Stickler syndrome type 1 |
Variation | info |
Gene | COL2A1 |
CLNDBN | Spondyloepiphyseal dysplasia congenita Stickler syndrome type 1 |
Reversed | 1 |
HGVS | NC_000012.11:g.48380868C>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000176186.1, RCV000304689.1, |