rs72547569
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs72547569(C;C) |
Make rs72547569(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 19657862 |
Gene | ALDH3A2 |
is a | snp |
is | mentioned by |
dbSNP | rs72547569 |
dbSNP (classic) | rs72547569 |
ClinGen | rs72547569 |
ebi | rs72547569 |
HLI | rs72547569 |
Exac | rs72547569 |
Gnomad | rs72547569 |
Varsome | rs72547569 |
LitVar | rs72547569 |
Map | rs72547569 |
PheGenI | rs72547569 |
Biobank | rs72547569 |
1000 genomes | rs72547569 |
hgdp | rs72547569 |
ensembl | rs72547569 |
geneview | rs72547569 |
scholar | rs72547569 |
rs72547569 | |
pharmgkb | rs72547569 |
gwascentral | rs72547569 |
openSNP | rs72547569 |
23andMe | rs72547569 |
SNPshot | rs72547569 |
SNPdbe | rs72547569 |
MSV3d | rs72547569 |
GWAS Ctlg | rs72547569 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72547569(C;C) |
Alt | rs72547569(C;C) |
Reference | Rs72547569(G;G) |
Significance | Pathogenic |
Disease | Sjögren-Larsson syndrome not provided |
Variation | info |
Gene | ALDH3A2 |
CLNDBN | Sjögren-Larsson syndrome not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.19561175G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001710.3, RCV000414702.1, |