rs148374859
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs148374859(C;C) |
Make rs148374859(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 76347712 |
Gene | BBS10 |
is a | snp |
is | mentioned by |
dbSNP | rs148374859 |
dbSNP (classic) | rs148374859 |
ClinGen | rs148374859 |
ebi | rs148374859 |
HLI | rs148374859 |
Exac | rs148374859 |
Gnomad | rs148374859 |
Varsome | rs148374859 |
LitVar | rs148374859 |
Map | rs148374859 |
PheGenI | rs148374859 |
Biobank | rs148374859 |
1000 genomes | rs148374859 |
hgdp | rs148374859 |
ensembl | rs148374859 |
geneview | rs148374859 |
scholar | rs148374859 |
rs148374859 | |
pharmgkb | rs148374859 |
gwascentral | rs148374859 |
openSNP | rs148374859 |
23andMe | rs148374859 |
SNPshot | rs148374859 |
SNPdbe | rs148374859 |
MSV3d | rs148374859 |
GWAS Ctlg | rs148374859 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs148374859(C;C) |
Alt | rs148374859(C;C) |
Reference | Rs148374859(G;G) |
Significance | Pathogenic |
Disease | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome |
Variation | info |
Gene | BBS10 |
CLNDBN | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome |
Reversed | 0 |
HGVS | NC_000012.11:g.76741492G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023803.4, RCV000225785.1, |