rs587777837
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AA;AA) | 0 | common in clinvar |
Make rs587777837(-;-) |
Make rs587777837(-;AA) |
Reference | GRCh38 38.1/142 |
Chromosome | 12 |
Position | 76346940 |
Gene | BBS10 |
is a | snp |
is | mentioned by |
dbSNP | rs587777837 |
dbSNP (classic) | rs587777837 |
ClinGen | rs587777837 |
ebi | rs587777837 |
HLI | rs587777837 |
Exac | rs587777837 |
Gnomad | rs587777837 |
Varsome | rs587777837 |
LitVar | rs587777837 |
Map | rs587777837 |
PheGenI | rs587777837 |
Biobank | rs587777837 |
1000 genomes | rs587777837 |
hgdp | rs587777837 |
ensembl | rs587777837 |
geneview | rs587777837 |
scholar | rs587777837 |
rs587777837 | |
pharmgkb | rs587777837 |
gwascentral | rs587777837 |
openSNP | rs587777837 |
23andMe | rs587777837 |
SNPshot | rs587777837 |
SNPdbe | rs587777837 |
MSV3d | rs587777837 |
GWAS Ctlg | rs587777837 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777837(-;-) |
Alt | rs587777837(-;-) |
Reference | Rs587777837(AA;AA) |
Significance | Pathogenic |
Disease | Bardet-Biedl syndrome 10 |
Variation | info |
Gene | BBS10 |
CLNDBN | Bardet-Biedl syndrome 10 |
Reversed | 0 |
HGVS | NC_000012.11:g.76740720_76740721delAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023802.6, |