rs786204741
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs786204741(-;-) |
Make rs786204741(-;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 19652633 |
Gene | ALDH3A2 |
is a | snp |
is | mentioned by |
dbSNP | rs786204741 |
dbSNP (classic) | rs786204741 |
ClinGen | rs786204741 |
ebi | rs786204741 |
HLI | rs786204741 |
Exac | rs786204741 |
Gnomad | rs786204741 |
Varsome | rs786204741 |
LitVar | rs786204741 |
Map | rs786204741 |
PheGenI | rs786204741 |
Biobank | rs786204741 |
1000 genomes | rs786204741 |
hgdp | rs786204741 |
ensembl | rs786204741 |
geneview | rs786204741 |
scholar | rs786204741 |
rs786204741 | |
pharmgkb | rs786204741 |
gwascentral | rs786204741 |
openSNP | rs786204741 |
23andMe | rs786204741 |
SNPshot | rs786204741 |
SNPdbe | rs786204741 |
MSV3d | rs786204741 |
GWAS Ctlg | rs786204741 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204741(-;-) |
Alt | rs786204741(-;-) |
Reference | Rs786204741(G;G) |
Significance | Probable-Pathogenic |
Disease | Sjögren-Larsson syndrome |
Variation | info |
Gene | ALDH3A2 |
CLNDBN | Sjögren-Larsson syndrome |
Reversed | 0 |
HGVS | NC_000017.10:g.19555946delG |
CLNSRC | |
CLNACC | RCV000169590.1, |