rs141507441
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs141507441(A;A) |
Make rs141507441(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 37125330 |
Gene | C5orf42 |
is a | snp |
is | mentioned by |
dbSNP | rs141507441 |
dbSNP (classic) | rs141507441 |
ClinGen | rs141507441 |
ebi | rs141507441 |
HLI | rs141507441 |
Exac | rs141507441 |
Gnomad | rs141507441 |
Varsome | rs141507441 |
LitVar | rs141507441 |
Map | rs141507441 |
PheGenI | rs141507441 |
Biobank | rs141507441 |
1000 genomes | rs141507441 |
hgdp | rs141507441 |
ensembl | rs141507441 |
geneview | rs141507441 |
scholar | rs141507441 |
rs141507441 | |
pharmgkb | rs141507441 |
gwascentral | rs141507441 |
openSNP | rs141507441 |
23andMe | rs141507441 |
SNPshot | rs141507441 |
SNPdbe | rs141507441 |
MSV3d | rs141507441 |
GWAS Ctlg | rs141507441 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs141507441(A;A) |
Alt | rs141507441(A;A) |
Reference | Rs141507441(G;G) |
Significance | Pathogenic |
Disease | Joubert syndrome 17 |
Variation | info |
Gene | C5orf42 |
CLNDBN | Joubert syndrome 17 |
Reversed | 0 |
HGVS | NC_000005.9:g.37125432G>A |
CLNSRC | |
CLNACC | RCV000201591.1, |