rs768443448
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs768443448(C;T) |
Make rs768443448(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 66526753 |
Gene | BBS1, ZDHHC24 |
is a | snp |
is | mentioned by |
dbSNP | rs768443448 |
dbSNP (classic) | rs768443448 |
ClinGen | rs768443448 |
ebi | rs768443448 |
HLI | rs768443448 |
Exac | rs768443448 |
Gnomad | rs768443448 |
Varsome | rs768443448 |
LitVar | rs768443448 |
Map | rs768443448 |
PheGenI | rs768443448 |
Biobank | rs768443448 |
1000 genomes | rs768443448 |
hgdp | rs768443448 |
ensembl | rs768443448 |
geneview | rs768443448 |
scholar | rs768443448 |
rs768443448 | |
pharmgkb | rs768443448 |
gwascentral | rs768443448 |
openSNP | rs768443448 |
23andMe | rs768443448 |
SNPshot | rs768443448 |
SNPdbe | rs768443448 |
MSV3d | rs768443448 |
GWAS Ctlg | rs768443448 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs768443448(G;G) rs768443448(T;T) |
Alt | rs768443448(G;G) rs768443448(T;T) |
Reference | Rs768443448(C;C) |
Significance | Probable-Pathogenic |
Disease | Bardet-Biedl syndrome |
Variation | info |
Gene | BBS1 ZDHHC24 |
CLNDBN | Bardet-Biedl syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.66294224C>T |
CLNSRC | |
CLNACC | RCV000169362.1, |