rs104886041
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 3 | Unaffected carrier of a Smith-Lemli-Opitz syndrome mutation |
(T;T) | 0 | common in clinvar |
Make rs104886041(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 71444018 |
Gene | DHCR7 |
is a | snp |
is | mentioned by |
dbSNP | rs104886041 |
dbSNP (classic) | rs104886041 |
ClinGen | rs104886041 |
ebi | rs104886041 |
HLI | rs104886041 |
Exac | rs104886041 |
Gnomad | rs104886041 |
Varsome | rs104886041 |
LitVar | rs104886041 |
Map | rs104886041 |
PheGenI | rs104886041 |
Biobank | rs104886041 |
1000 genomes | rs104886041 |
hgdp | rs104886041 |
ensembl | rs104886041 |
geneview | rs104886041 |
scholar | rs104886041 |
rs104886041 | |
pharmgkb | rs104886041 |
gwascentral | rs104886041 |
openSNP | rs104886041 |
23andMe | rs104886041 |
SNPshot | rs104886041 |
SNPdbe | rs104886041 |
MSV3d | rs104886041 |
GWAS Ctlg | rs104886041 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs104886041(C;C) |
Alt | rs104886041(C;C) |
Reference | Rs104886041(T;T) |
Significance | Pathogenic |
Disease | Smith-Lemli-Opitz syndrome |
Variation | info |
Gene | DHCR7 |
CLNDBN | Smith-Lemli-Opitz syndrome |
Reversed | 1 |
HGVS | NC_000011.9:g.71155064A>G |
CLNSRC | |
CLNACC |
[PMID 9653161] Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.