rs864309477
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGAGAGGTCACCCAGGCCCCCCGGGGC;AGAGAGGTCACCCAGGCCCCCCGGGGC) | 0 | common in clinvar |
Make rs864309477(-;-) |
Make rs864309477(-;AGAGAGGTCACCCAGGCCCCCCGGGGC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 33172580 |
Gene | COL11A2 |
is a | snp |
is | mentioned by |
dbSNP | rs864309477 |
dbSNP (classic) | rs864309477 |
ClinGen | rs864309477 |
ebi | rs864309477 |
HLI | rs864309477 |
Exac | rs864309477 |
Gnomad | rs864309477 |
Varsome | rs864309477 |
LitVar | rs864309477 |
Map | rs864309477 |
PheGenI | rs864309477 |
Biobank | rs864309477 |
1000 genomes | rs864309477 |
hgdp | rs864309477 |
ensembl | rs864309477 |
geneview | rs864309477 |
scholar | rs864309477 |
rs864309477 | |
pharmgkb | rs864309477 |
gwascentral | rs864309477 |
openSNP | rs864309477 |
23andMe | rs864309477 |
SNPshot | rs864309477 |
SNPdbe | rs864309477 |
MSV3d | rs864309477 |
GWAS Ctlg | rs864309477 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864309477(-;-) |
Alt | rs864309477(-;-) |
Reference | Rs864309477(AGAGAGGTCACCCAGGCCCCCCGGGGC;AGAGAGGTCACCCAGGCCCCCCGGGGC) |
Significance | Pathogenic |
Disease | Stickler syndrome |
Variation | info |
Gene | COL11A2 |
CLNDBN | Stickler syndrome, type 3 |
Reversed | 1 |
HGVS | NC_000006.11:g.33140357_33140383del27 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018659.29, |