rs1057516266
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(ATTT;ATTT) | 0 | common in clinvar |
Make rs1057516266(-;-) |
Make rs1057516266(-;ATTT) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 12 |
Position | 76347414 |
Gene | BBS10 |
is a | snp |
is | mentioned by |
dbSNP | rs1057516266 |
dbSNP (classic) | rs1057516266 |
ClinGen | rs1057516266 |
ebi | rs1057516266 |
HLI | rs1057516266 |
Exac | rs1057516266 |
Gnomad | rs1057516266 |
Varsome | rs1057516266 |
LitVar | rs1057516266 |
Map | rs1057516266 |
PheGenI | rs1057516266 |
Biobank | rs1057516266 |
1000 genomes | rs1057516266 |
hgdp | rs1057516266 |
ensembl | rs1057516266 |
geneview | rs1057516266 |
scholar | rs1057516266 |
rs1057516266 | |
pharmgkb | rs1057516266 |
gwascentral | rs1057516266 |
openSNP | rs1057516266 |
23andMe | rs1057516266 |
SNPshot | rs1057516266 |
SNPdbe | rs1057516266 |
MSV3d | rs1057516266 |
GWAS Ctlg | rs1057516266 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516266(-;-) |
Alt | rs1057516266(-;-) |
Reference | Rs1057516266(ATTT;ATTT) |
Significance | Probable-Pathogenic |
Disease | Bardet-Biedl syndrome 10 |
Variation | info |
Gene | BBS10 |
CLNDBN | Bardet-Biedl syndrome 10 |
Reversed | 1 |
HGVS | NC_000012.11:g.76741194_76741197delAAAT |
CLNSRC | |
CLNACC | RCV000411390.1, |