rs193922709
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs193922709(A;A) |
Make rs193922709(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 66519695 |
Gene | BBS1 |
is a | snp |
is | mentioned by |
dbSNP | rs193922709 |
dbSNP (classic) | rs193922709 |
ClinGen | rs193922709 |
ebi | rs193922709 |
HLI | rs193922709 |
Exac | rs193922709 |
Gnomad | rs193922709 |
Varsome | rs193922709 |
LitVar | rs193922709 |
Map | rs193922709 |
PheGenI | rs193922709 |
Biobank | rs193922709 |
1000 genomes | rs193922709 |
hgdp | rs193922709 |
ensembl | rs193922709 |
geneview | rs193922709 |
scholar | rs193922709 |
rs193922709 | |
pharmgkb | rs193922709 |
gwascentral | rs193922709 |
openSNP | rs193922709 |
23andMe | rs193922709 |
SNPshot | rs193922709 |
SNPdbe | rs193922709 |
MSV3d | rs193922709 |
GWAS Ctlg | rs193922709 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922709(A;A) |
Alt | rs193922709(A;A) |
Reference | Rs193922709(G;G) |
Significance | Probable-Pathogenic |
Disease | Bardet-Biedl syndrome |
Variation | info |
Gene | BBS1 |
CLNDBN | Bardet-Biedl syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.66287166G>A |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000029404.1, |