rs587777812
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TCTT;TCTT) | 0 | common in clinvar |
Make rs587777812(-;-) |
Make rs587777812(-;TCTT) |
Reference | GRCh38 38.1/142 |
Chromosome | 4 |
Position | 121854710 |
Gene | BBS7 |
is a | snp |
is | mentioned by |
dbSNP | rs587777812 |
dbSNP (classic) | rs587777812 |
ClinGen | rs587777812 |
ebi | rs587777812 |
HLI | rs587777812 |
Exac | rs587777812 |
Gnomad | rs587777812 |
Varsome | rs587777812 |
LitVar | rs587777812 |
Map | rs587777812 |
PheGenI | rs587777812 |
Biobank | rs587777812 |
1000 genomes | rs587777812 |
hgdp | rs587777812 |
ensembl | rs587777812 |
geneview | rs587777812 |
scholar | rs587777812 |
rs587777812 | |
pharmgkb | rs587777812 |
gwascentral | rs587777812 |
openSNP | rs587777812 |
23andMe | rs587777812 |
SNPshot | rs587777812 |
SNPdbe | rs587777812 |
MSV3d | rs587777812 |
GWAS Ctlg | rs587777812 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777812(-;-) |
Alt | rs587777812(-;-) |
Reference | Rs587777812(TCTT;TCTT) |
Significance | Pathogenic |
Disease | Bardet-Biedl syndrome 7 |
Variation | info |
Gene | BBS7 |
CLNDBN | Bardet-Biedl syndrome 7 |
Reversed | 0 |
HGVS | NC_000004.11:g.122775865_122775868delTCTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003153.3, |