rs113994179
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs113994179(C;G) |
Make rs113994179(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 66523453 |
Gene | BBS1, ZDHHC24 |
is a | snp |
is | mentioned by |
dbSNP | rs113994179 |
dbSNP (classic) | rs113994179 |
ClinGen | rs113994179 |
ebi | rs113994179 |
HLI | rs113994179 |
Exac | rs113994179 |
Gnomad | rs113994179 |
Varsome | rs113994179 |
LitVar | rs113994179 |
Map | rs113994179 |
PheGenI | rs113994179 |
Biobank | rs113994179 |
1000 genomes | rs113994179 |
hgdp | rs113994179 |
ensembl | rs113994179 |
geneview | rs113994179 |
scholar | rs113994179 |
rs113994179 | |
pharmgkb | rs113994179 |
gwascentral | rs113994179 |
openSNP | rs113994179 |
23andMe | rs113994179 |
SNPshot | rs113994179 |
SNPdbe | rs113994179 |
MSV3d | rs113994179 |
GWAS Ctlg | rs113994179 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113994179(G;G) |
Alt | rs113994179(G;G) |
Reference | Rs113994179(C;C) |
Significance | Pathogenic |
Disease | Bardet-Biedl syndrome |
Variation | info |
Gene | BBS1 ZDHHC24 |
CLNDBN | Bardet-Biedl syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.66290924C>G |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020905.1, |