rs863224530
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AC;AC) | 0 | common in clinvar |
Make rs863224530(-;-) |
Make rs863224530(-;AC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 121859130 |
Gene | BBS7 |
is a | snp |
is | mentioned by |
dbSNP | rs863224530 |
dbSNP (classic) | rs863224530 |
ClinGen | rs863224530 |
ebi | rs863224530 |
HLI | rs863224530 |
Exac | rs863224530 |
Gnomad | rs863224530 |
Varsome | rs863224530 |
LitVar | rs863224530 |
Map | rs863224530 |
PheGenI | rs863224530 |
Biobank | rs863224530 |
1000 genomes | rs863224530 |
hgdp | rs863224530 |
ensembl | rs863224530 |
geneview | rs863224530 |
scholar | rs863224530 |
rs863224530 | |
pharmgkb | rs863224530 |
gwascentral | rs863224530 |
openSNP | rs863224530 |
23andMe | rs863224530 |
SNPshot | rs863224530 |
SNPdbe | rs863224530 |
MSV3d | rs863224530 |
GWAS Ctlg | rs863224530 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224530(-;-) |
Alt | rs863224530(-;-) |
Reference | Rs863224530(AC;AC) |
Significance | Pathogenic |
Disease | Bardet-Biedl syndrome |
Variation | info |
Gene | BBS7 |
CLNDBN | Bardet-Biedl syndrome |
Reversed | 1 |
HGVS | NC_000004.11:g.122780285_122780286delGT |
CLNSRC | |
CLNACC | RCV000200204.1, |