rs537456518
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs537456518(C;T) |
Make rs537456518(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 8 |
Position | 67164468 |
Gene | CSPP1 |
is a | snp |
is | mentioned by |
dbSNP | rs537456518 |
dbSNP (classic) | rs537456518 |
ClinGen | rs537456518 |
ebi | rs537456518 |
HLI | rs537456518 |
Exac | rs537456518 |
Gnomad | rs537456518 |
Varsome | rs537456518 |
LitVar | rs537456518 |
Map | rs537456518 |
PheGenI | rs537456518 |
Biobank | rs537456518 |
1000 genomes | rs537456518 |
hgdp | rs537456518 |
ensembl | rs537456518 |
geneview | rs537456518 |
scholar | rs537456518 |
rs537456518 | |
pharmgkb | rs537456518 |
gwascentral | rs537456518 |
openSNP | rs537456518 |
23andMe | rs537456518 |
SNPshot | rs537456518 |
SNPdbe | rs537456518 |
MSV3d | rs537456518 |
GWAS Ctlg | rs537456518 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs537456518(G;G) rs537456518(T;T) |
Alt | rs537456518(G;G) rs537456518(T;T) |
Reference | Rs537456518(C;C) |
Significance | Pathogenic |
Disease | Joubert syndrome 21 |
Variation | info |
Gene | CSPP1 |
CLNDBN | Joubert syndrome 21 |
Reversed | 0 |
HGVS | NC_000008.10:g.68076703C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000087076.4, |