rs74315308
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs74315308(A;C) |
Make rs74315308(C;C) |
Reference | GRCh37 37.1/132 |
Chromosome | 1 |
Position | 55331115 |
Gene | DHCR24 |
is a | snp |
is | mentioned by |
dbSNP | rs74315308 |
dbSNP (classic) | rs74315308 |
ClinGen | rs74315308 |
ebi | rs74315308 |
HLI | rs74315308 |
Exac | rs74315308 |
Gnomad | rs74315308 |
Varsome | rs74315308 |
LitVar | rs74315308 |
Map | rs74315308 |
PheGenI | rs74315308 |
Biobank | rs74315308 |
1000 genomes | rs74315308 |
hgdp | rs74315308 |
ensembl | rs74315308 |
geneview | rs74315308 |
scholar | rs74315308 |
rs74315308 | |
pharmgkb | rs74315308 |
gwascentral | rs74315308 |
openSNP | rs74315308 |
23andMe | rs74315308 |
SNPshot | rs74315308 |
SNPdbe | rs74315308 |
MSV3d | rs74315308 |
GWAS Ctlg | rs74315308 |
Status | Deleted |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74315308(C;C) |
Alt | rs74315308(C;C) |
Reference | Rs74315308(A;A) |
Significance | Pathogenic |
Disease | Desmosterolosis |
Variation | info |
Gene | DHCR24 |
CLNDBN | Desmosterolosis |
Reversed | 1 |
HGVS | NC_000001.10:g.55331115T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | SCV000024790.1, |