rs587777807
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common genotype |
(TGC;TGC) | 0 | common in clinvar |
Make rs587777807(-;-) |
Make rs587777807(-;TGC) |
Reference | GRCh38 38.1/142 |
Chromosome | 14 |
Position | 88870200 |
Gene | TTC8 |
is a | snp |
is | mentioned by |
dbSNP | rs587777807 |
dbSNP (classic) | rs587777807 |
ClinGen | rs587777807 |
ebi | rs587777807 |
HLI | rs587777807 |
Exac | rs587777807 |
Gnomad | rs587777807 |
Varsome | rs587777807 |
LitVar | rs587777807 |
Map | rs587777807 |
PheGenI | rs587777807 |
Biobank | rs587777807 |
1000 genomes | rs587777807 |
hgdp | rs587777807 |
ensembl | rs587777807 |
geneview | rs587777807 |
scholar | rs587777807 |
rs587777807 | |
pharmgkb | rs587777807 |
gwascentral | rs587777807 |
openSNP | rs587777807 |
23andMe | rs587777807 |
SNPshot | rs587777807 |
SNPdbe | rs587777807 |
MSV3d | rs587777807 |
GWAS Ctlg | rs587777807 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777807(-;-) |
Alt | rs587777807(-;-) |
Reference | Rs587777807(TGC;TGC) |
Significance | Pathogenic |
Disease | Bardet-Biedl syndrome 8 |
Variation | info |
Gene | TTC8 |
CLNDBN | Bardet-Biedl syndrome 8 |
Reversed | 0 |
HGVS | NC_000014.8:g.89336544_89336546delTGC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002638.3, |