rs199545653
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199545653(C;T) |
Make rs199545653(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 8075670 |
Gene | ALOX12B |
is a | snp |
is | mentioned by |
dbSNP | rs199545653 |
dbSNP (classic) | rs199545653 |
ClinGen | rs199545653 |
ebi | rs199545653 |
HLI | rs199545653 |
Exac | rs199545653 |
Gnomad | rs199545653 |
Varsome | rs199545653 |
LitVar | rs199545653 |
Map | rs199545653 |
PheGenI | rs199545653 |
Biobank | rs199545653 |
1000 genomes | rs199545653 |
hgdp | rs199545653 |
ensembl | rs199545653 |
geneview | rs199545653 |
scholar | rs199545653 |
rs199545653 | |
pharmgkb | rs199545653 |
gwascentral | rs199545653 |
openSNP | rs199545653 |
23andMe | rs199545653 |
SNPshot | rs199545653 |
SNPdbe | rs199545653 |
MSV3d | rs199545653 |
GWAS Ctlg | rs199545653 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199545653(T;T) |
Alt | rs199545653(T;T) |
Reference | Rs199545653(C;C) |
Significance | Probable-Pathogenic |
Disease | Autosomal recessive congenital ichthyosis 2 not provided |
Variation | info |
Gene | ALOX12B |
CLNDBN | Autosomal recessive congenital ichthyosis 2 not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.7978988C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000193750.1, RCV000421593.1, |