rs151344630
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs151344630(C;G) |
Make rs151344630(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 122742215 |
Gene | BBS12 |
is a | snp |
is | mentioned by |
dbSNP | rs151344630 |
dbSNP (classic) | rs151344630 |
ClinGen | rs151344630 |
ebi | rs151344630 |
HLI | rs151344630 |
Exac | rs151344630 |
Gnomad | rs151344630 |
Varsome | rs151344630 |
LitVar | rs151344630 |
Map | rs151344630 |
PheGenI | rs151344630 |
Biobank | rs151344630 |
1000 genomes | rs151344630 |
hgdp | rs151344630 |
ensembl | rs151344630 |
geneview | rs151344630 |
scholar | rs151344630 |
rs151344630 | |
pharmgkb | rs151344630 |
gwascentral | rs151344630 |
openSNP | rs151344630 |
23andMe | rs151344630 |
SNPshot | rs151344630 |
SNPdbe | rs151344630 |
MSV3d | rs151344630 |
GWAS Ctlg | rs151344630 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs151344630(G;G) |
Alt | rs151344630(G;G) |
Reference | Rs151344630(C;C) |
Significance | Pathogenic |
Disease | Bardet-Biedl syndrome |
Variation | info |
Gene | BBS12 |
CLNDBN | Bardet-Biedl syndrome |
Reversed | 0 |
HGVS | NC_000004.11:g.123663370C>G |
CLNSRC | ClinVar |
CLNACC | RCV000058869.1, |