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rs1805081

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 0
Make rs1805081(A;A)
Make rs1805081(A;G)
Make rs1805081(G;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position23560468
GeneNPC1
is asnp
is mentioned by
dbSNPrs1805081
dbSNP (old)rs1805081
ClinGenrs1805081
ebirs1805081
HLIrs1805081
Exacrs1805081
Varsomers1805081
Maprs1805081
PheGenIrs1805081
Biobankrs1805081
1000 genomesrs1805081
hgdprs1805081
ensemblrs1805081
gopubmedrs1805081
geneviewrs1805081
scholarrs1805081
googlers1805081
pharmgkbrs1805081
gwascentralrs1805081
openSNPrs1805081
23andMers1805081
23andMe allrs1805081
SNP Nexus

SNPshotrs1805081
SNPdbers1805081
MSV3drs1805081
GWAS Ctlgrs1805081
GMAF0.2456
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene NPC1
allele C
frequency 0.467
sift TOLERATED
HuRef 1103645153912
Disease Association 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.



GWAS snp
PMID [PMID 19151714]
Trait Obesity
Title Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations
Risk Allele A
P-val 3E-7
Odds Ratio 1.33 [1.08-1.75]
OMIM606641
DescBODY MASS INDEX; BMI
Variant
Relatedalso
[PMID 20955564OA-icon.png] Interaction of functional NPC1 gene Polymorphism with smoking on coronary heart disease


[PMID 20843981OA-icon.png] Associations of six single nucleotide polymorphisms in obesity-related genes with BMI and risk of obesity in Chinese children


[PMID 21527513] Influence of physical inactivity on associations between single nucleotide polymorphisms and genetic predisposition to childhood obesity


[PMID 21912638OA-icon.png] Studies of metabolic phenotypic correlates of 15 obesity associated gene variants


[PMID 18834923OA-icon.png] 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.


[PMID 19553259OA-icon.png] Common body mass index-associated variants confer risk of extreme obesity.


[PMID 20127379OA-icon.png] From monogenic to polygenic obesity: recent advances.


[PMID 20712903OA-icon.png] Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.


[PMID 22430306OA-icon.png] Evaluation of common genetic variants identified by GWAS for early onset and morbid obesity in population-based samples.


GET Evidence
NPC1-H215R
aa_change His215Arg
aa_change_short H215R
impact protective
qualified_impact Low clinical importance, Likely protective
overall_frequency 0.295687
summary 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 23153210OA-icon.png] Mammalian NPC1 genes may undergo positive selection and human polymorphisms associate with type 2 diabetes


[PMID 23424664OA-icon.png] Study of 11 BMI-associated loci identified in GWAS for associations with central obesity in the Chinese children


[PMID 24269186] An obesity genetic risk score is associated with metabolic syndrome in Chinese children


[PMID 23471855OA-icon.png] The genetics of childhood obesity and interaction with dietary macronutrients.


[PMID 23588626] Associations of obesity susceptibility loci with hypertension in Chinese children.


[PMID 25492288] [Impact of obesity-related gene polymorphism on risk of obesity and metabolic disorder in childhood]


ClinVar
Risk rs1805081(G;G)
Alt rs1805081(G;G)
Reference rs1805081(A;A)
Significance Other
Disease not specified Niemann-Pick disease
Variation info
Gene NPC1
CLNDBN not specified Niemann-Pick disease, type C
Reversed 1
HGVS NC_000018.9:g.21140432T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000078484.9, RCV000405719.1,