RS202135215 PLEC

Health Risk Chr 8:143930278
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Associated Conditions
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex
Ogna type
Epidermolysis bullosa simplex 5C
with pyloric atresia
Epidermolysis bullosa simplex 5B
with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex
Ogna type
Epidermolysis bullosa simplex 5C
with pyloric atresia
Epidermolysis bullosa simplex 5B
with muscular dystrophy
GWAS Studies (1)
Trait Risk Allele OR / Beta P-value Study
EPPK1 protein levels A OR: 0.62 9E-16 PubMed
Other Variants in PLEC
rs786205251 rs786205252 rs786205253 rs786205254 rs80338756 rs864309671 rs137853160 rs864309672 rs137853161 rs864309673
Ask Dr. Hemsworth about this variant