rs368619022
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs368619022(A;A) |
Make rs368619022(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 12 |
Position | 94411780 |
Gene | CEP83 |
is a | snp |
is | mentioned by |
dbSNP | rs368619022 |
dbSNP (classic) | rs368619022 |
ClinGen | rs368619022 |
ebi | rs368619022 |
HLI | rs368619022 |
Exac | rs368619022 |
Gnomad | rs368619022 |
Varsome | rs368619022 |
LitVar | rs368619022 |
Map | rs368619022 |
PheGenI | rs368619022 |
Biobank | rs368619022 |
1000 genomes | rs368619022 |
hgdp | rs368619022 |
ensembl | rs368619022 |
geneview | rs368619022 |
scholar | rs368619022 |
rs368619022 | |
pharmgkb | rs368619022 |
gwascentral | rs368619022 |
openSNP | rs368619022 |
23andMe | rs368619022 |
SNPshot | rs368619022 |
SNPdbe | rs368619022 |
MSV3d | rs368619022 |
GWAS Ctlg | rs368619022 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs368619022(A;A) |
Alt | rs368619022(A;A) |
Reference | Rs368619022(G;G) |
Significance | Pathogenic |
Disease | Nephronophthisis 18 |
Variation | info |
Gene | CEP83 CCDC41 |
CLNDBN | Nephronophthisis 18 |
Reversed | 0 |
HGVS | NC_000012.11:g.94805556G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000128441.3, |