RS1044498 ENPP1
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What This Variant Does
"blog ENPP1 harbors a mutation with a derived state known to protect against obesity and type II diab...
Associated Conditions
Insulin resistance
susceptibility to
Obesity
Arterial calcification
generalized
of infancy
1
Hypophosphatemic rickets
autosomal recessive
2
Diabetes mellitus type 2
Hypopigmentation-punctate palmoplantar keratoderma syndrome
Type 2 diabetes mellitus
ENPP1-related disorder
Inherited obesity
Population Frequencies
gnomAD ALL
16.2%
1kG AFR
88.4%
1kG ALL
65.8%
1kG AMR
80.4%
1kG EAS
90.4%
1kG EUR
13.3%
1kG SAS
81.7%
Other Variants in ENPP1