rs797044640
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797044640(-;T) |
Make rs797044640(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 37226775 |
Gene | C5orf42 |
is a | snp |
is | mentioned by |
dbSNP | rs797044640 |
dbSNP (classic) | rs797044640 |
ClinGen | rs797044640 |
ebi | rs797044640 |
HLI | rs797044640 |
Exac | rs797044640 |
Gnomad | rs797044640 |
Varsome | rs797044640 |
LitVar | rs797044640 |
Map | rs797044640 |
PheGenI | rs797044640 |
Biobank | rs797044640 |
1000 genomes | rs797044640 |
hgdp | rs797044640 |
ensembl | rs797044640 |
geneview | rs797044640 |
scholar | rs797044640 |
rs797044640 | |
pharmgkb | rs797044640 |
gwascentral | rs797044640 |
openSNP | rs797044640 |
23andMe | rs797044640 |
SNPshot | rs797044640 |
SNPdbe | rs797044640 |
MSV3d | rs797044640 |
GWAS Ctlg | rs797044640 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044640(T;T) |
Alt | rs797044640(T;T) |
Reference | Rs797044640(-;-) |
Significance | Pathogenic |
Disease | Joubert syndrome 17 |
Variation | info |
Gene | C5orf42 |
CLNDBN | Joubert syndrome 17 |
Reversed | 1 |
HGVS | NC_000005.9:g.37226878dupA |
CLNSRC | |
CLNACC | RCV000174405.1, |