rs28940271
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 2 | carrier for Lamellar ichthyosis, type 2 |
(G;G) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 214980608 |
Gene | ABCA12 |
is a | snp |
is | mentioned by |
dbSNP | rs28940271 |
dbSNP (classic) | rs28940271 |
ClinGen | rs28940271 |
ebi | rs28940271 |
HLI | rs28940271 |
Exac | rs28940271 |
Gnomad | rs28940271 |
Varsome | rs28940271 |
LitVar | rs28940271 |
Map | rs28940271 |
PheGenI | rs28940271 |
Biobank | rs28940271 |
1000 genomes | rs28940271 |
hgdp | rs28940271 |
ensembl | rs28940271 |
geneview | rs28940271 |
scholar | rs28940271 |
rs28940271 | |
pharmgkb | rs28940271 |
gwascentral | rs28940271 |
openSNP | rs28940271 |
23andMe | rs28940271 |
SNPshot | rs28940271 |
SNPdbe | rs28940271 |
MSV3d | rs28940271 |
GWAS Ctlg | rs28940271 |
Max Magnitude | 2 |
ClinVar | |
---|---|
Risk | Rs28940271(A;A) |
Alt | Rs28940271(A;A) |
Reference | Rs28940271(G;G) |
Significance | Pathogenic |
Disease | Autosomal recessive congenital ichthyosis 4A |
Variation | info |
Gene | ABCA12 |
CLNDBN | Autosomal recessive congenital ichthyosis 4A |
Reversed | 1 |
HGVS | NC_000002.11:g.215845332C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002992.2, |
This is a recessive SNP for congenital Lamellar ichthyosis, type 2, also called ichthyosis-4A, a significant skin condition.