RS72653706 ABCC6
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What This Variant Does
"Mutations in ABCC6 cause pseudoxanthoma elasticum. [OMIM:?]
Associated Conditions
Autosomal recessive inherited pseudoxanthoma elasticum
Arterial calcification
generalized
of infancy
2
Papule
Cutis laxa
Pseudoxanthoma elasticum
forme fruste
See cases
ABCC6-related disorder
Autosomal recessive inherited pseudoxanthoma elasticum
Arterial calcification
generalized
of infancy
GWAS Studies (1)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| ALCAM protein levels | A | OR: 0.4 | 8E-14 | PubMed |
Other Variants in ABCC6