rs777686211
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs777686211(-;-) |
Make rs777686211(-;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 37226776 |
Gene | C5orf42 |
is a | snp |
is | mentioned by |
dbSNP | rs777686211 |
dbSNP (classic) | rs777686211 |
ClinGen | rs777686211 |
ebi | rs777686211 |
HLI | rs777686211 |
Exac | rs777686211 |
Gnomad | rs777686211 |
Varsome | rs777686211 |
LitVar | rs777686211 |
Map | rs777686211 |
PheGenI | rs777686211 |
Biobank | rs777686211 |
1000 genomes | rs777686211 |
hgdp | rs777686211 |
ensembl | rs777686211 |
geneview | rs777686211 |
scholar | rs777686211 |
rs777686211 | |
pharmgkb | rs777686211 |
gwascentral | rs777686211 |
openSNP | rs777686211 |
23andMe | rs777686211 |
SNPshot | rs777686211 |
SNPdbe | rs777686211 |
MSV3d | rs777686211 |
GWAS Ctlg | rs777686211 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs777686211(-;-) |
Alt | rs777686211(-;-) |
Reference | Rs777686211(A;A) |
Significance | Pathogenic |
Disease | Joubert syndrome 17 not provided Global developmental delay Jaundice |
Variation | info |
Gene | C5orf42 |
CLNDBN | Joubert syndrome 17 not provided Global developmental delay Jaundice |
Reversed | 0 |
HGVS | NC_000005.9:g.37226878delA |
CLNSRC | |
CLNACC | RCV000201783.1, RCV000313670.2, RCV000414845.1, |