rs193922711
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs193922711(-;-) |
Make rs193922711(-;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 56497770 |
Gene | BBS2 |
is a | snp |
is | mentioned by |
dbSNP | rs193922711 |
dbSNP (classic) | rs193922711 |
ClinGen | rs193922711 |
ebi | rs193922711 |
HLI | rs193922711 |
Exac | rs193922711 |
Gnomad | rs193922711 |
Varsome | rs193922711 |
LitVar | rs193922711 |
Map | rs193922711 |
PheGenI | rs193922711 |
Biobank | rs193922711 |
1000 genomes | rs193922711 |
hgdp | rs193922711 |
ensembl | rs193922711 |
geneview | rs193922711 |
scholar | rs193922711 |
rs193922711 | |
pharmgkb | rs193922711 |
gwascentral | rs193922711 |
openSNP | rs193922711 |
23andMe | rs193922711 |
SNPshot | rs193922711 |
SNPdbe | rs193922711 |
MSV3d | rs193922711 |
GWAS Ctlg | rs193922711 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922711(-;-) |
Alt | rs193922711(-;-) |
Reference | Rs193922711(T;T) |
Significance | Pathogenic |
Disease | Bardet-Biedl syndrome Bardet-Biedl syndrome 2 |
Variation | info |
Gene | BBS2 |
CLNDBN | Bardet-Biedl syndrome Bardet-Biedl syndrome 2 |
Reversed | 1 |
HGVS | NC_000016.9:g.56531682delA |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000029407.1, RCV000190358.1, |