rs72547575
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs72547575(A;G) |
Make rs72547575(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 19664997 |
Gene | ALDH3A2 |
is a | snp |
is | mentioned by |
dbSNP | rs72547575 |
dbSNP (classic) | rs72547575 |
ClinGen | rs72547575 |
ebi | rs72547575 |
HLI | rs72547575 |
Exac | rs72547575 |
Gnomad | rs72547575 |
Varsome | rs72547575 |
LitVar | rs72547575 |
Map | rs72547575 |
PheGenI | rs72547575 |
Biobank | rs72547575 |
1000 genomes | rs72547575 |
hgdp | rs72547575 |
ensembl | rs72547575 |
geneview | rs72547575 |
scholar | rs72547575 |
rs72547575 | |
pharmgkb | rs72547575 |
gwascentral | rs72547575 |
openSNP | rs72547575 |
23andMe | rs72547575 |
SNPshot | rs72547575 |
SNPdbe | rs72547575 |
MSV3d | rs72547575 |
GWAS Ctlg | rs72547575 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72547575(G;G) |
Alt | rs72547575(G;G) |
Reference | Rs72547575(A;A) |
Significance | Pathogenic |
Disease | Sjögren-Larsson syndrome |
Variation | info |
Gene | ALDH3A2 |
CLNDBN | Sjögren-Larsson syndrome |
Reversed | 0 |
HGVS | NC_000017.10:g.19568310A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001711.4, |