{{Rsnum
|rsid=1805081
|Gene=NPC1
|Chromosome=18
|position=23560468
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.2456
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=NPC1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 26.5 | 52.2 | 21.2
| HCB | 58.4 | 36.5 | 5.1
| JPT | 53.1 | 40.7 | 6.2
| YRI | 100.0 | 0.0 | 0.0
| ASW | 77.2 | 22.8 | 0.0
| CHB | 58.4 | 36.5 | 5.1
| CHD | 53.8 | 36.8 | 9.4
| GIH | 44.6 | 46.5 | 8.9
| LWK | 0.0 | 0.0 | 0.0
| MEX | 69.0 | 27.6 | 3.4
| MKK | 98.7 | 1.3 | 0.0
| TSI | 54.9 | 38.2 | 6.9
| HapMapRevision=28
}}{{Venter SNP
|rsid=1805081
|allele=C
|frequency=0.467
|uid=1103645153912
|type=heterozygous_SNP
|hugo=NPC1
|ensembl gene=ENSG00000141458
|ensembl transcript=ENST00000269228
|sift=TOLERATED
|disease=Defects in NPC1 are the cause of Niemann-Pick disease type D (NPD) (MIM:257220); also known as Niemann-Pick disease without sphingomyelinase deficiency, or Nova Scotian type. Because of evidence from biochemical changes, lack of complementation, and linkage mapping to the same chromosome site, NPD and NPC1 are considered to be allelic disorders.
}}

{{PMID Auto GWAS
|PMID=19151714
|Trait=Obesity
|Title=Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations
|RiskAllele=A
|Pval=3E-7
|OR=1.33
|ORtxt=[1.08-1.75]
}}

{{omim
|desc=BODY MASS INDEX; BMI
|id=606641
|rsnum=1805081
}}

{{PharmGKB
|RSID=rs1805081
|Name_s=NPC1: H215R
|Gene_s=NPC1
|Feature=
|Evidence=PubMed ID:19174833
|Annotation=The analyses of genome-wide association data from 1,380 Europeans with early-onset and morbid adult obesity and 1,416 age-matched normal-weight controls found an association of this variant (rs1805081) in NPC1 for risk of pooled childhood and adult severe obesity.
|Drugs=
|Drug Classes=
|Diseases=Obesity
|Curation Level=Curated
|PharmGKB Accession ID=PA162565811
}}

{{PMID Auto
|PMID=20955564
|Title=Interaction of functional NPC1 gene Polymorphism with smoking on coronary heart disease
|OA=1
}}

{{PharmGKB
|RSID=rs1805081
|Name_s=
|Gene_s=NPC1
|Feature=
|Evidence=PubMed ID:19151714; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations. (Initial Sample Size: 695 obese adults, 685 obese children, 731 lean adults, 685 lean children; Replication Sample Size: 1,171 obese adults, 896 obese children, 1,114 lean adults, 1,297 lean children, 4,417 adults, 5,291 children); (Region: 18q11.2; Reported Gene(s): NPC1; Risk Allele: rs1805081-A); (p-value= 0.0000003).This variant is associated with Obesity.
|Drugs=
|Drug Classes=
|Diseases=Obesity
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740068
}}
{{PMID Auto
|PMID=20843981
|Title=Associations of six single nucleotide polymorphisms in obesity-related genes with BMI and risk of obesity in Chinese children
|OA=1
}}

{{PMID Auto
|PMID=21527513
|Title=Influence of physical inactivity on associations between single nucleotide polymorphisms and genetic predisposition to childhood obesity
}}

{{PMID Auto
|PMID=21912638
|Title=Studies of metabolic phenotypic correlates of 15 obesity associated gene variants
|OA=1
}}

{{PMID Auto
|PMID=18834923
|Title=Variation in NPC1, the gene encoding Niemann-Pick C1, a protein involved in intracellular cholesterol transport, is associated with Alzheimer disease and/or aging in the Polish population.
|OA=1
}}

{{PMID Auto
|PMID=19553259
|Title=Common body mass index-associated variants confer risk of extreme obesity.
|OA=1
}}

{{PMID Auto
|PMID=20127379
|Title=From monogenic to polygenic obesity: recent advances.
|OA=1
}}

{{PMID Auto
|PMID=20712903
|Title=Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.
|OA=1
}}

{{PMID Auto
|PMID=22430306
|Title=Evaluation of common genetic variants identified by GWAS for early onset and morbid obesity in population-based samples.
|OA=1
}}

{{GET Evidence
|gene=NPC1
|aa_change=His215Arg
|aa_change_short=H215R
|impact=protective
|qualified_impact=Low clinical importance, Likely protective
|inheritance=other
|quality_scores=Array
|dbsnp_id=rs1805081
|overall_frequency_n=3181
|overall_frequency_d=10758
|overall_frequency=0.295687
|n_genomes=21
|n_genomes_annotated=0
|n_haplomes=24
|n_articles=3
|n_articles_annotated=3
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|qualityscore_case_control=4
|qualitycomment_case_control=Y
|qualityscore_severity=3
|gene_in_genetests=Y
|in_gwas=Y
|in_pharmgkb=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=4
|webscore=N
|n_web_uneval=10
|variant_evidence=0
|clinical_importance=1
|summary_short=This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual).      
}}

{{PMID Auto
|PMID=23153210
|Title=Mammalian NPC1 genes may undergo positive selection and human polymorphisms associate with type 2 diabetes
|OA=1
}}

{{PMID Auto
|PMID=23424664
|Title=Study of 11 BMI-associated loci identified in GWAS for associations with central obesity in the Chinese children
|OA=1
}}

{{PMID Auto
|PMID=24269186
|Title=An obesity genetic risk score is associated with metabolic syndrome in Chinese children
}}

{{PMID Auto
|PMID=23471855
|Title=The genetics of childhood obesity and interaction with dietary macronutrients.
|OA=1
}}

{{PMID Auto
|PMID=23588626
|Title=Associations of obesity susceptibility loci with hypertension in Chinese children.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}