rs786205637
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGA;AGA) | 0 | common in clinvar |
Make rs786205637(-;-) |
Make rs786205637(-;AGA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 169504507 |
Gene | BBS5 |
is a | snp |
is | mentioned by |
dbSNP | rs786205637 |
dbSNP (classic) | rs786205637 |
ClinGen | rs786205637 |
ebi | rs786205637 |
HLI | rs786205637 |
Exac | rs786205637 |
Gnomad | rs786205637 |
Varsome | rs786205637 |
LitVar | rs786205637 |
Map | rs786205637 |
PheGenI | rs786205637 |
Biobank | rs786205637 |
1000 genomes | rs786205637 |
hgdp | rs786205637 |
ensembl | rs786205637 |
geneview | rs786205637 |
scholar | rs786205637 |
rs786205637 | |
pharmgkb | rs786205637 |
gwascentral | rs786205637 |
openSNP | rs786205637 |
23andMe | rs786205637 |
SNPshot | rs786205637 |
SNPdbe | rs786205637 |
MSV3d | rs786205637 |
GWAS Ctlg | rs786205637 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205637(-;-) |
Alt | rs786205637(-;-) |
Reference | Rs786205637(AGA;AGA) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | BBS5 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.170361017_170361019delAGA |
CLNSRC | |
CLNACC | RCV000171499.1, |