rs370031870
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs370031870(A;A) |
Make rs370031870(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 8115623 |
Gene | ALOXE3 |
is a | snp |
is | mentioned by |
dbSNP | rs370031870 |
dbSNP (classic) | rs370031870 |
ClinGen | rs370031870 |
ebi | rs370031870 |
HLI | rs370031870 |
Exac | rs370031870 |
Gnomad | rs370031870 |
Varsome | rs370031870 |
LitVar | rs370031870 |
Map | rs370031870 |
PheGenI | rs370031870 |
Biobank | rs370031870 |
1000 genomes | rs370031870 |
hgdp | rs370031870 |
ensembl | rs370031870 |
geneview | rs370031870 |
scholar | rs370031870 |
rs370031870 | |
pharmgkb | rs370031870 |
gwascentral | rs370031870 |
openSNP | rs370031870 |
23andMe | rs370031870 |
SNPshot | rs370031870 |
SNPdbe | rs370031870 |
MSV3d | rs370031870 |
GWAS Ctlg | rs370031870 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs370031870(A;A) |
Alt | rs370031870(A;A) |
Reference | Rs370031870(G;G) |
Significance | Pathogenic |
Disease | Autosomal recessive congenital ichthyosis 3 |
Variation | info |
Gene | ALOXE3 |
CLNDBN | Autosomal recessive congenital ichthyosis 3 |
Reversed | 0 |
HGVS | NC_000017.10:g.8018941G>A |
CLNSRC | |
CLNACC | RCV000201260.1, |