rs886042660
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CACCCTTGTCAC;CACCCTTGTCAC) | 0 | common in clinvar |
Chromosome | 1 |
Position | 102913660 |
Gene | COL11A1 |
is a | snp |
is | mentioned by |
dbSNP | rs886042660 |
dbSNP (classic) | rs886042660 |
ClinGen | rs886042660 |
ebi | rs886042660 |
HLI | rs886042660 |
Exac | rs886042660 |
Gnomad | rs886042660 |
Varsome | rs886042660 |
LitVar | rs886042660 |
Map | rs886042660 |
PheGenI | rs886042660 |
Biobank | rs886042660 |
1000 genomes | rs886042660 |
hgdp | rs886042660 |
ensembl | rs886042660 |
geneview | rs886042660 |
scholar | rs886042660 |
rs886042660 | |
pharmgkb | rs886042660 |
gwascentral | rs886042660 |
openSNP | rs886042660 |
23andMe | rs886042660 |
SNPshot | rs886042660 |
SNPdbe | rs886042660 |
MSV3d | rs886042660 |
GWAS Ctlg | rs886042660 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886042660(-;-) |
Alt | rs886042660(-;-) |
Reference | Rs886042660(CACCCTTGTCAC;CACCCTTGTCAC) |
Significance | Probable-Pathogenic |
Disease | Stickler syndrome |
Variation | info |
Gene | COL11A1 |
CLNDBN | Stickler syndrome, type 2 |
Reversed | 0 |
HGVS | NC_000001.10:g.103379216_103379227delCACCCTTGTCAC |
CLNSRC | |
CLNACC | RCV000315491.1, |