rs11891778
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs11891778(C;C) |
Make rs11891778(C;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 215045850 |
Gene | ABCA12 |
is a | snp |
is | mentioned by |
dbSNP | rs11891778 |
dbSNP (classic) | rs11891778 |
ClinGen | rs11891778 |
ebi | rs11891778 |
HLI | rs11891778 |
Exac | rs11891778 |
Gnomad | rs11891778 |
Varsome | rs11891778 |
LitVar | rs11891778 |
Map | rs11891778 |
PheGenI | rs11891778 |
Biobank | rs11891778 |
1000 genomes | rs11891778 |
hgdp | rs11891778 |
ensembl | rs11891778 |
geneview | rs11891778 |
scholar | rs11891778 |
rs11891778 | |
pharmgkb | rs11891778 |
gwascentral | rs11891778 |
openSNP | rs11891778 |
23andMe | rs11891778 |
SNPshot | rs11891778 |
SNPdbe | rs11891778 |
MSV3d | rs11891778 |
GWAS Ctlg | rs11891778 |
Max Magnitude | 0 |
? | (C;C) (C;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs11891778(A;A) rs11891778(C;C) |
Alt | rs11891778(A;A) rs11891778(C;C) |
Reference | Rs11891778(G;G) |
Significance | Pathogenic |
Disease | not provided Congenital ichthyosiform erythroderma |
Variation | info |
Gene | ABCA12 |
CLNDBN | not provided Congenital ichthyosiform erythroderma |
Reversed | 0 |
HGVS | NC_000002.11:g.215910574G>A; NC_000002.11:g.215910574G>C |
CLNSRC | Illumina |
CLNACC | RCV000255175.1, RCV000224893.1, RCV000293566.1, |