rs1057516449
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057516449(C;C) |
Make rs1057516449(C;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 66511090 |
Gene | BBS1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057516449 |
dbSNP (old) | rs1057516449 |
ClinGen | rs1057516449 |
ebi | rs1057516449 |
HLI | rs1057516449 |
Exac | rs1057516449 |
Gnomad | rs1057516449 |
Varsome | rs1057516449 |
Map | rs1057516449 |
PheGenI | rs1057516449 |
Biobank | rs1057516449 |
1000 genomes | rs1057516449 |
hgdp | rs1057516449 |
ensembl | rs1057516449 |
gopubmed | rs1057516449 |
geneview | rs1057516449 |
scholar | rs1057516449 |
rs1057516449 | |
pharmgkb | rs1057516449 |
gwascentral | rs1057516449 |
openSNP | rs1057516449 |
23andMe | rs1057516449 |
23andMe all | rs1057516449 |
SNPshot | rs1057516449 |
SNPdbe | rs1057516449 |
MSV3d | rs1057516449 |
GWAS Ctlg | rs1057516449 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516449(C;C) |
Alt | rs1057516449(C;C) |
Reference | Rs1057516449(G;G) |
Significance | Probable-Pathogenic |
Disease | Bardet-Biedl syndrome |
Variation | info |
Gene | BBS1 |
CLNDBN | Bardet-Biedl syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.66278561G>C |
CLNSRC | |
CLNACC | RCV000411354.1, |