rs774291653
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs774291653(-;-) |
Make rs774291653(-;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 71435737 |
Gene | DHCR7 |
is a | snp |
is | mentioned by |
dbSNP | rs774291653 |
dbSNP (classic) | rs774291653 |
ClinGen | rs774291653 |
ebi | rs774291653 |
HLI | rs774291653 |
Exac | rs774291653 |
Gnomad | rs774291653 |
Varsome | rs774291653 |
LitVar | rs774291653 |
Map | rs774291653 |
PheGenI | rs774291653 |
Biobank | rs774291653 |
1000 genomes | rs774291653 |
hgdp | rs774291653 |
ensembl | rs774291653 |
geneview | rs774291653 |
scholar | rs774291653 |
rs774291653 | |
pharmgkb | rs774291653 |
gwascentral | rs774291653 |
openSNP | rs774291653 |
23andMe | rs774291653 |
SNPshot | rs774291653 |
SNPdbe | rs774291653 |
MSV3d | rs774291653 |
GWAS Ctlg | rs774291653 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs774291653(-;-) |
Alt | rs774291653(-;-) |
Reference | Rs774291653(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.71146783delG |
CLNSRC | |
CLNACC | RCV000409736.1, |