rs786205120
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs786205120(G;T) |
Make rs786205120(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 8111474 |
Gene | ALOXE3 |
is a | snp |
is | mentioned by |
dbSNP | rs786205120 |
dbSNP (classic) | rs786205120 |
ClinGen | rs786205120 |
ebi | rs786205120 |
HLI | rs786205120 |
Exac | rs786205120 |
Gnomad | rs786205120 |
Varsome | rs786205120 |
LitVar | rs786205120 |
Map | rs786205120 |
PheGenI | rs786205120 |
Biobank | rs786205120 |
1000 genomes | rs786205120 |
hgdp | rs786205120 |
ensembl | rs786205120 |
geneview | rs786205120 |
scholar | rs786205120 |
rs786205120 | |
pharmgkb | rs786205120 |
gwascentral | rs786205120 |
openSNP | rs786205120 |
23andMe | rs786205120 |
SNPshot | rs786205120 |
SNPdbe | rs786205120 |
MSV3d | rs786205120 |
GWAS Ctlg | rs786205120 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205120(T;T) |
Alt | rs786205120(T;T) |
Reference | Rs786205120(G;G) |
Significance | Pathogenic |
Disease | Autosomal recessive congenital ichthyosis 3 |
Variation | info |
Gene | ALOXE3 |
CLNDBN | Autosomal recessive congenital ichthyosis 3 |
Reversed | 1 |
HGVS | NC_000017.10:g.8014792C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032746.3, |