rs672601355
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs672601355(-;TCCTGGGTC) |
Make rs672601355(TCCTGGGTC;TCCTGGGTC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 47987632 |
Gene | COL2A1 |
is a | snp |
is | mentioned by |
dbSNP | rs672601355 |
dbSNP (classic) | rs672601355 |
ClinGen | rs672601355 |
ebi | rs672601355 |
HLI | rs672601355 |
Exac | rs672601355 |
Gnomad | rs672601355 |
Varsome | rs672601355 |
LitVar | rs672601355 |
Map | rs672601355 |
PheGenI | rs672601355 |
Biobank | rs672601355 |
1000 genomes | rs672601355 |
hgdp | rs672601355 |
ensembl | rs672601355 |
geneview | rs672601355 |
scholar | rs672601355 |
rs672601355 | |
pharmgkb | rs672601355 |
gwascentral | rs672601355 |
openSNP | rs672601355 |
23andMe | rs672601355 |
SNPshot | rs672601355 |
SNPdbe | rs672601355 |
MSV3d | rs672601355 |
GWAS Ctlg | rs672601355 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs672601355(TCCTGGGTC;TCCTGGGTC) |
Alt | rs672601355(TCCTGGGTC;TCCTGGGTC) |
Reference | Rs672601355(-;-) |
Significance | Pathogenic |
Disease | Stickler syndrome |
Variation | info |
Gene | COL2A1 |
CLNDBN | Stickler syndrome |
Reversed | 1 |
HGVS | NC_000012.11:g.48381416_48381424dupGACCCAGGA |
CLNSRC | |
CLNACC | RCV000149458.1, |