rs786204705
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CTCAA;CTCAA) | 0 | common in clinvar |
Make rs786204705(-;-) |
Make rs786204705(-;CTCAA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 76346533 |
Gene | BBS10 |
is a | snp |
is | mentioned by |
dbSNP | rs786204705 |
dbSNP (classic) | rs786204705 |
ClinGen | rs786204705 |
ebi | rs786204705 |
HLI | rs786204705 |
Exac | rs786204705 |
Gnomad | rs786204705 |
Varsome | rs786204705 |
LitVar | rs786204705 |
Map | rs786204705 |
PheGenI | rs786204705 |
Biobank | rs786204705 |
1000 genomes | rs786204705 |
hgdp | rs786204705 |
ensembl | rs786204705 |
geneview | rs786204705 |
scholar | rs786204705 |
rs786204705 | |
pharmgkb | rs786204705 |
gwascentral | rs786204705 |
openSNP | rs786204705 |
23andMe | rs786204705 |
SNPshot | rs786204705 |
SNPdbe | rs786204705 |
MSV3d | rs786204705 |
GWAS Ctlg | rs786204705 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204705(-;-) |
Alt | rs786204705(-;-) |
Reference | Rs786204705(CTCAA;CTCAA) |
Significance | Probable-Pathogenic |
Disease | Bardet-Biedl syndrome 10 |
Variation | info |
Gene | BBS10 |
CLNDBN | Bardet-Biedl syndrome 10 |
Reversed | 1 |
HGVS | NC_000012.11:g.76740313_76740317delTTGAG |
CLNSRC | Counsyl |
CLNACC | RCV000169519.1, |