rs756564881
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs756564881(A;A) |
Make rs756564881(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 71444871 |
Gene | DHCR7 |
is a | snp |
is | mentioned by |
dbSNP | rs756564881 |
dbSNP (classic) | rs756564881 |
ClinGen | rs756564881 |
ebi | rs756564881 |
HLI | rs756564881 |
Exac | rs756564881 |
Gnomad | rs756564881 |
Varsome | rs756564881 |
LitVar | rs756564881 |
Map | rs756564881 |
PheGenI | rs756564881 |
Biobank | rs756564881 |
1000 genomes | rs756564881 |
hgdp | rs756564881 |
ensembl | rs756564881 |
geneview | rs756564881 |
scholar | rs756564881 |
rs756564881 | |
pharmgkb | rs756564881 |
gwascentral | rs756564881 |
openSNP | rs756564881 |
23andMe | rs756564881 |
SNPshot | rs756564881 |
SNPdbe | rs756564881 |
MSV3d | rs756564881 |
GWAS Ctlg | rs756564881 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs756564881(A;A) |
Alt | rs756564881(A;A) |
Reference | Rs756564881(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.71155917G>A |
CLNSRC | |
CLNACC | RCV000411258.1, |