RS80358259 NPC1

Health Risk Chr 18:23536736
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What This Variant Does
"[OMIM:?]
Associated Conditions
Niemann-Pick disease
type C1
type C
Inborn genetic diseases
Sphingomyelin/cholesterol lipidosis
NPC1-related disorder
Lysosomal storage disease
Niemann-Pick disease
type C1
type C
Inborn genetic diseases
Sphingomyelin/cholesterol lipidosis
NPC1-related disorder
Lysosomal storage disease
GWAS Studies (3)
Trait Risk Allele OR / Beta P-value Study
Mean sphered cell volume — OR: 0.22 6E-11 PubMed
Platelet distribution width — OR: 0.2 7E-10 PubMed
Mean corpuscular volume — OR: 0.21 2E-9 PubMed
Other Variants in NPC1
rs28940897 rs28942104 rs28942105 rs80358254 rs120074130 rs797044431 rs28942106 rs120074131 rs80358257 rs120074132
Ask Dr. Hemsworth about this variant