rs587777826
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587777826(-;-) |
Make rs587777826(-;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 56510921 |
Gene | BBS2 |
is a | snp |
is | mentioned by |
dbSNP | rs587777826 |
dbSNP (classic) | rs587777826 |
ClinGen | rs587777826 |
ebi | rs587777826 |
HLI | rs587777826 |
Exac | rs587777826 |
Gnomad | rs587777826 |
Varsome | rs587777826 |
LitVar | rs587777826 |
Map | rs587777826 |
PheGenI | rs587777826 |
Biobank | rs587777826 |
1000 genomes | rs587777826 |
hgdp | rs587777826 |
ensembl | rs587777826 |
geneview | rs587777826 |
scholar | rs587777826 |
rs587777826 | |
pharmgkb | rs587777826 |
gwascentral | rs587777826 |
openSNP | rs587777826 |
23andMe | rs587777826 |
SNPshot | rs587777826 |
SNPdbe | rs587777826 |
MSV3d | rs587777826 |
GWAS Ctlg | rs587777826 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777826(-;-) |
Alt | rs587777826(-;-) |
Reference | Rs587777826(C;C) |
Significance | Pathogenic |
Disease | Bardet-biedl syndrome 1/2 |
Variation | info |
Gene | BBS2 |
CLNDBN | Bardet-biedl syndrome 1/2, digenic |
Reversed | 0 |
HGVS | NC_000016.9:g.56544833delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004842.4, |