rs373306653
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs373306653(A;G) |
Make rs373306653(G;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 11 |
Position | 71435665 |
Gene | DHCR7 |
is a | snp |
is | mentioned by |
dbSNP | rs373306653 |
dbSNP (classic) | rs373306653 |
ClinGen | rs373306653 |
ebi | rs373306653 |
HLI | rs373306653 |
Exac | rs373306653 |
Gnomad | rs373306653 |
Varsome | rs373306653 |
LitVar | rs373306653 |
Map | rs373306653 |
PheGenI | rs373306653 |
Biobank | rs373306653 |
1000 genomes | rs373306653 |
hgdp | rs373306653 |
ensembl | rs373306653 |
geneview | rs373306653 |
scholar | rs373306653 |
rs373306653 | |
pharmgkb | rs373306653 |
gwascentral | rs373306653 |
openSNP | rs373306653 |
23andMe | rs373306653 |
SNPshot | rs373306653 |
SNPdbe | rs373306653 |
MSV3d | rs373306653 |
GWAS Ctlg | rs373306653 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs373306653(G;G) |
Alt | rs373306653(G;G) |
Reference | Rs373306653(A;A) |
Significance | Probable-Pathogenic |
Disease | Smith-Lemli-Opitz syndrome |
Variation | info |
Gene | DHCR7 |
CLNDBN | Smith-Lemli-Opitz syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.71146711A>G |
CLNSRC | |
CLNACC | RCV000408382.1, |