rs387906257
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs387906257(-;ACAAA) |
Make rs387906257(ACAAA;ACAAA) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 19671824 |
Gene | ALDH3A2 |
is a | snp |
is | mentioned by |
dbSNP | rs387906257 |
dbSNP (classic) | rs387906257 |
ClinGen | rs387906257 |
ebi | rs387906257 |
HLI | rs387906257 |
Exac | rs387906257 |
Gnomad | rs387906257 |
Varsome | rs387906257 |
LitVar | rs387906257 |
Map | rs387906257 |
PheGenI | rs387906257 |
Biobank | rs387906257 |
1000 genomes | rs387906257 |
hgdp | rs387906257 |
ensembl | rs387906257 |
geneview | rs387906257 |
scholar | rs387906257 |
rs387906257 | |
pharmgkb | rs387906257 |
gwascentral | rs387906257 |
openSNP | rs387906257 |
23andMe | rs387906257 |
SNPshot | rs387906257 |
SNPdbe | rs387906257 |
MSV3d | rs387906257 |
GWAS Ctlg | rs387906257 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906257(AACAA;AACAA) |
Alt | rs387906257(AACAA;AACAA) |
Reference | Rs387906257(-;-) |
Significance | Pathogenic |
Disease | Sjögren-Larsson syndrome |
Variation | info |
Gene | ALDH3A2 |
CLNDBN | Sjögren-Larsson syndrome |
Reversed | 0 |
HGVS | NC_000017.10:g.19575133_19575137dupACAAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001709.4, |