rs758972393
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs758972393(A;G) |
Make rs758972393(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 94035411 |
Gene | ARL13B |
is a | snp |
is | mentioned by |
dbSNP | rs758972393 |
dbSNP (classic) | rs758972393 |
ClinGen | rs758972393 |
ebi | rs758972393 |
HLI | rs758972393 |
Exac | rs758972393 |
Gnomad | rs758972393 |
Varsome | rs758972393 |
LitVar | rs758972393 |
Map | rs758972393 |
PheGenI | rs758972393 |
Biobank | rs758972393 |
1000 genomes | rs758972393 |
hgdp | rs758972393 |
ensembl | rs758972393 |
geneview | rs758972393 |
scholar | rs758972393 |
rs758972393 | |
pharmgkb | rs758972393 |
gwascentral | rs758972393 |
openSNP | rs758972393 |
23andMe | rs758972393 |
SNPshot | rs758972393 |
SNPdbe | rs758972393 |
MSV3d | rs758972393 |
GWAS Ctlg | rs758972393 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs758972393(G;G) |
Alt | rs758972393(G;G) |
Reference | Rs758972393(A;A) |
Significance | Pathogenic |
Disease | Joubert syndrome 8 |
Variation | info |
Gene | ARL13B |
CLNDBN | Joubert syndrome 8 |
Reversed | 0 |
HGVS | NC_000003.11:g.93754255A>G |
CLNSRC | |
CLNACC | RCV000201595.1, |