rs373704405
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs373704405(A;A) |
Make rs373704405(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 37231020 |
Gene | C5orf42 |
is a | snp |
is | mentioned by |
dbSNP | rs373704405 |
dbSNP (classic) | rs373704405 |
ClinGen | rs373704405 |
ebi | rs373704405 |
HLI | rs373704405 |
Exac | rs373704405 |
Gnomad | rs373704405 |
Varsome | rs373704405 |
LitVar | rs373704405 |
Map | rs373704405 |
PheGenI | rs373704405 |
Biobank | rs373704405 |
1000 genomes | rs373704405 |
hgdp | rs373704405 |
ensembl | rs373704405 |
geneview | rs373704405 |
scholar | rs373704405 |
rs373704405 | |
pharmgkb | rs373704405 |
gwascentral | rs373704405 |
openSNP | rs373704405 |
23andMe | rs373704405 |
SNPshot | rs373704405 |
SNPdbe | rs373704405 |
MSV3d | rs373704405 |
GWAS Ctlg | rs373704405 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs373704405(A;A) |
Alt | rs373704405(A;A) |
Reference | Rs373704405(G;G) |
Significance | Pathogenic |
Disease | not specified Joubert syndrome 17 |
Variation | info |
Gene | C5orf42 |
CLNDBN | not specified Joubert syndrome 17 |
Reversed | 0 |
HGVS | NC_000005.9:g.37231122G>A |
CLNSRC | |
CLNACC | RCV000180684.1, RCV000201580.1, |