rs786204759
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GCT;GCT) | 0 | common in clinvar |
Make rs786204759(CC;CC) |
Make rs786204759(CC;GCT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 19661229 |
Gene | ALDH3A2 |
is a | snp |
is | mentioned by |
dbSNP | rs786204759 |
dbSNP (classic) | rs786204759 |
ClinGen | rs786204759 |
ebi | rs786204759 |
HLI | rs786204759 |
Exac | rs786204759 |
Gnomad | rs786204759 |
Varsome | rs786204759 |
LitVar | rs786204759 |
Map | rs786204759 |
PheGenI | rs786204759 |
Biobank | rs786204759 |
1000 genomes | rs786204759 |
hgdp | rs786204759 |
ensembl | rs786204759 |
geneview | rs786204759 |
scholar | rs786204759 |
rs786204759 | |
pharmgkb | rs786204759 |
gwascentral | rs786204759 |
openSNP | rs786204759 |
23andMe | rs786204759 |
SNPshot | rs786204759 |
SNPdbe | rs786204759 |
MSV3d | rs786204759 |
GWAS Ctlg | rs786204759 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204759(CC;CC) |
Alt | rs786204759(CC;CC) |
Reference | Rs786204759(GCT;GCT) |
Significance | Probable-Pathogenic |
Disease | Sjögren-Larsson syndrome |
Variation | info |
Gene | ALDH3A2 |
CLNDBN | Sjögren-Larsson syndrome |
Reversed | 0 |
HGVS | NC_000017.10:g.19564542_19564544delGCTinsCC |
CLNSRC | |
CLNACC | RCV000169619.1, |