rs587783014
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGTGTAT;AGTGTAT) | 0 | common in clinvar |
Make rs587783014(-;-) |
Make rs587783014(-;AGTGTAT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 135428648 |
Gene | AHI1 |
is a | snp |
is | mentioned by |
dbSNP | rs587783014 |
dbSNP (classic) | rs587783014 |
ClinGen | rs587783014 |
ebi | rs587783014 |
HLI | rs587783014 |
Exac | rs587783014 |
Gnomad | rs587783014 |
Varsome | rs587783014 |
LitVar | rs587783014 |
Map | rs587783014 |
PheGenI | rs587783014 |
Biobank | rs587783014 |
1000 genomes | rs587783014 |
hgdp | rs587783014 |
ensembl | rs587783014 |
geneview | rs587783014 |
scholar | rs587783014 |
rs587783014 | |
pharmgkb | rs587783014 |
gwascentral | rs587783014 |
openSNP | rs587783014 |
23andMe | rs587783014 |
SNPshot | rs587783014 |
SNPdbe | rs587783014 |
MSV3d | rs587783014 |
GWAS Ctlg | rs587783014 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587783014(-;-) |
Alt | rs587783014(-;-) |
Reference | Rs587783014(AGTGTAT;AGTGTAT) |
Significance | Pathogenic |
Disease | Joubert syndrome 3 |
Variation | info |
Gene | AHI1 |
CLNDBN | Joubert syndrome 3 |
Reversed | 1 |
HGVS | NC_000006.11:g.135749786_135749792delATACACT |
CLNSRC | |
CLNACC | RCV000144465.1, |