rs786204575
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs786204575(C;C) |
Make rs786204575(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 76346744 |
Gene | BBS10 |
is a | snp |
is | mentioned by |
dbSNP | rs786204575 |
dbSNP (classic) | rs786204575 |
ClinGen | rs786204575 |
ebi | rs786204575 |
HLI | rs786204575 |
Exac | rs786204575 |
Gnomad | rs786204575 |
Varsome | rs786204575 |
LitVar | rs786204575 |
Map | rs786204575 |
PheGenI | rs786204575 |
Biobank | rs786204575 |
1000 genomes | rs786204575 |
hgdp | rs786204575 |
ensembl | rs786204575 |
geneview | rs786204575 |
scholar | rs786204575 |
rs786204575 | |
pharmgkb | rs786204575 |
gwascentral | rs786204575 |
openSNP | rs786204575 |
23andMe | rs786204575 |
SNPshot | rs786204575 |
SNPdbe | rs786204575 |
MSV3d | rs786204575 |
GWAS Ctlg | rs786204575 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204575(C;C) |
Alt | rs786204575(C;C) |
Reference | Rs786204575(T;T) |
Significance | Probable-Pathogenic |
Disease | Bardet-Biedl syndrome 10 |
Variation | info |
Gene | BBS10 |
CLNDBN | Bardet-Biedl syndrome 10 |
Reversed | 1 |
HGVS | NC_000012.11:g.76740524A>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000169317.1, |