Gene: ABCA12 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746315995
rs746315995
ABCA12
0.700 GeneticVariation UNIPROT Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity. 16675967

2006
dbSNP: rs746315995
rs746315995
ABCA12
0.700 GeneticVariation UNIPROT ABCA12 is the major harlequin ichthyosis gene. 16902423

2006