rs794727006
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs794727006(-;-) |
Make rs794727006(-;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 66523512 |
Gene | BBS1, ZDHHC24 |
is a | snp |
is | mentioned by |
dbSNP | rs794727006 |
dbSNP (classic) | rs794727006 |
ClinGen | rs794727006 |
ebi | rs794727006 |
HLI | rs794727006 |
Exac | rs794727006 |
Gnomad | rs794727006 |
Varsome | rs794727006 |
LitVar | rs794727006 |
Map | rs794727006 |
PheGenI | rs794727006 |
Biobank | rs794727006 |
1000 genomes | rs794727006 |
hgdp | rs794727006 |
ensembl | rs794727006 |
geneview | rs794727006 |
scholar | rs794727006 |
rs794727006 | |
pharmgkb | rs794727006 |
gwascentral | rs794727006 |
openSNP | rs794727006 |
23andMe | rs794727006 |
SNPshot | rs794727006 |
SNPdbe | rs794727006 |
MSV3d | rs794727006 |
GWAS Ctlg | rs794727006 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727006(-;-) |
Alt | rs794727006(-;-) |
Reference | Rs794727006(T;T) |
Significance | Pathogenic |
Disease | Bardet-Biedl syndrome |
Variation | info |
Gene | BBS1 ZDHHC24 |
CLNDBN | Bardet-Biedl syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.66290983delT |
CLNSRC | |
CLNACC | RCV000173898.1, |