rs863225196
From SNPedia
Merged into | rs587777144 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AT;AT) | 0 | common in clinvar |
Make rs863225196(-;-) |
Make rs863225196(-;AT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 8 |
Position | 67086061 |
Gene | CSPP1 |
is a | snp |
is | mentioned by |
dbSNP | rs863225196 |
dbSNP (classic) | rs863225196 |
ClinGen | rs863225196 |
ebi | rs863225196 |
HLI | rs863225196 |
Exac | rs863225196 |
Gnomad | rs863225196 |
Varsome | rs863225196 |
LitVar | rs863225196 |
Map | rs863225196 |
PheGenI | rs863225196 |
Biobank | rs863225196 |
1000 genomes | rs863225196 |
hgdp | rs863225196 |
ensembl | rs863225196 |
geneview | rs863225196 |
scholar | rs863225196 |
rs863225196 | |
pharmgkb | rs863225196 |
gwascentral | rs863225196 |
openSNP | rs863225196 |
23andMe | rs863225196 |
SNPshot | rs863225196 |
SNPdbe | rs863225196 |
MSV3d | rs863225196 |
GWAS Ctlg | rs863225196 |
Status | Merged into rs587777144 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs863225196(AT;AT) |
Significance | Pathogenic |
Disease | Joubert syndrome 21 |
Variation | info |
Gene | CSPP1 |
CLNDBN | Joubert syndrome 21 |
Reversed | 0 |
HGVS | NC_000008.10:g.67998297_67998298delTA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000087073.5, |