rs746875134
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs746875134(C;C) |
Make rs746875134(C;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 66523577 |
Gene | BBS1, ZDHHC24 |
is a | snp |
is | mentioned by |
dbSNP | rs746875134 |
dbSNP (classic) | rs746875134 |
ClinGen | rs746875134 |
ebi | rs746875134 |
HLI | rs746875134 |
Exac | rs746875134 |
Gnomad | rs746875134 |
Varsome | rs746875134 |
LitVar | rs746875134 |
Map | rs746875134 |
PheGenI | rs746875134 |
Biobank | rs746875134 |
1000 genomes | rs746875134 |
hgdp | rs746875134 |
ensembl | rs746875134 |
geneview | rs746875134 |
scholar | rs746875134 |
rs746875134 | |
pharmgkb | rs746875134 |
gwascentral | rs746875134 |
openSNP | rs746875134 |
23andMe | rs746875134 |
SNPshot | rs746875134 |
SNPdbe | rs746875134 |
MSV3d | rs746875134 |
GWAS Ctlg | rs746875134 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs746875134(A;A) rs746875134(C;C) |
Alt | rs746875134(A;A) rs746875134(C;C) |
Reference | Rs746875134(G;G) |
Significance | Probable-Pathogenic |
Disease | Bardet-Biedl syndrome |
Variation | info |
Gene | BBS1 ZDHHC24 |
CLNDBN | Bardet-Biedl syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.66291048G>A |
CLNSRC | |
CLNACC | RCV000410778.1, |