rs730880264
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CCC;CCC) | 0 | common in clinvar |
Make rs730880264(CCC;GGGCTAAAAGTACTGTTGGGG) |
Make rs730880264(GGGCTAAAAGTACTGTTGGGG;GGGCTAAAAGTACTGTTGGGG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 19663333 |
Gene | ALDH3A2 |
is a | snp |
is | mentioned by |
dbSNP | rs730880264 |
dbSNP (classic) | rs730880264 |
ClinGen | rs730880264 |
ebi | rs730880264 |
HLI | rs730880264 |
Exac | rs730880264 |
Gnomad | rs730880264 |
Varsome | rs730880264 |
LitVar | rs730880264 |
Map | rs730880264 |
PheGenI | rs730880264 |
Biobank | rs730880264 |
1000 genomes | rs730880264 |
hgdp | rs730880264 |
ensembl | rs730880264 |
geneview | rs730880264 |
scholar | rs730880264 |
rs730880264 | |
pharmgkb | rs730880264 |
gwascentral | rs730880264 |
openSNP | rs730880264 |
23andMe | rs730880264 |
SNPshot | rs730880264 |
SNPdbe | rs730880264 |
MSV3d | rs730880264 |
GWAS Ctlg | rs730880264 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880264(GGGCTAAAAGTACTGTTGGGG;GGGCTAAAAGTACTGTTGGGG) |
Alt | rs730880264(GGGCTAAAAGTACTGTTGGGG;GGGCTAAAAGTACTGTTGGGG) |
Reference | Rs730880264(CCC;CCC) |
Significance | Pathogenic |
Disease | Sjögren-Larsson syndrome |
Variation | info |
Gene | ALDH3A2 |
CLNDBN | Sjögren-Larsson syndrome |
Reversed | 0 |
HGVS | NC_000017.10:g.19566646_19566648delCCCinsGGGCTAAAAGTACTGTTGGGG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001705.3, |