rs886042362
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Chromosome | 11 |
Position | 71435455 |
Gene | DHCR7 |
is a | snp |
is | mentioned by |
dbSNP | rs886042362 |
dbSNP (classic) | rs886042362 |
ClinGen | rs886042362 |
ebi | rs886042362 |
HLI | rs886042362 |
Exac | rs886042362 |
Gnomad | rs886042362 |
Varsome | rs886042362 |
LitVar | rs886042362 |
Map | rs886042362 |
PheGenI | rs886042362 |
Biobank | rs886042362 |
1000 genomes | rs886042362 |
hgdp | rs886042362 |
ensembl | rs886042362 |
geneview | rs886042362 |
scholar | rs886042362 |
rs886042362 | |
pharmgkb | rs886042362 |
gwascentral | rs886042362 |
openSNP | rs886042362 |
23andMe | rs886042362 |
SNPshot | rs886042362 |
SNPdbe | rs886042362 |
MSV3d | rs886042362 |
GWAS Ctlg | rs886042362 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886042362(-;-) |
Alt | rs886042362(-;-) |
Reference | Rs886042362(G;G) |
Significance | Probable-Pathogenic |
Disease | Smith-Lemli-Opitz syndrome |
Variation | info |
Gene | DHCR7 |
CLNDBN | Smith-Lemli-Opitz syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.71146501delG |
CLNSRC | |
CLNACC | RCV000316051.1, |