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rs6232

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
(A;G) 2 obesity and insulin
(G;G) 2.1 obesity and insulin
ReferenceGRCh38 38.1/141
Chromosome5
Position96416081
GeneCTD-2337A12.1, PCSK1
is asnp
is mentioned by
dbSNPrs6232
ebirs6232
HLIrs6232
Exacrs6232
Varsomers6232
Maprs6232
PheGenIrs6232
hapmaprs6232
1000 genomesrs6232
hgdprs6232
ensemblrs6232
gopubmedrs6232
geneviewrs6232
scholarrs6232
googlers6232
pharmgkbrs6232
gwascentralrs6232
openSNPrs6232
23andMers6232
23andMe allrs6232
SNP Nexus

SNPshotrs6232
SNPdbers6232
MSV3drs6232
GWAS Ctlgrs6232
GMAF0.01791
Max Magnitude2.1
? (A;A) (A;G) (G;G) 28
[PMID 18604207]

see also: spitoon


[PMID 19528091OA-icon.png] Association of variants in the PCSK1 gene with obesity in the EPIC-Norfolk Study

OMIM612362
DescBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12; BMIQ12
Variant
Relatedalso
OMIM162150
DescPROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 1; PCSK1
Variant
Relatedalso
[PMID 20534142OA-icon.png] Association of obesity risk SNPs in PCSK1 with insulin sensitivity and proinsulin conversion
OMIM162150
Desc
Variant0005
Relatedalso
[PMID 21935364OA-icon.png] The Effect of PCSK1 Variants on Waist, Waist-Hip Ratio and Glucose Metabolism Is Modified by Sex and Glucose Tolerance Status


[PMID 22307923OA-icon.png] Allelic clustering and ancestry-dependent frequencies of rs6232, rs6234, and rs6235 PCSK1 SNPs in a Northern Ontario population sample


[PMID 22737226OA-icon.png] PCSK1 rs6232 Is Associated with Childhood and Adult Class III Obesity in the Mexican Population


ClinVar
Risk rs6232(G;G)
Alt rs6232(G;G)
Reference rs6232(A;A)
Significance Other
Disease Body mass index quantitative trait locus 12
Variation info
Gene PCSK1 LOC101929710
CLNDBN Body mass index quantitative trait locus 12
Reversed 1
HGVS NC_000005.9:g.95751785T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000022673.3,



[PMID 18698231OA-icon.png] Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.


[PMID 19079261OA-icon.png] Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.


[PMID 22000902] Effects of rs6234/rs6235 and rs6232/rs6234/rs6235 PCSK1 single-nucleotide polymorphism clusters on proprotein convertase 1/3 biosynthesis and activity.


GET Evidence
PCSK1-N221D
aa_change Asn221Asp
aa_change_short N221D
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.0356944
summary



Obesity: Preliminary Research


[PMID 23383060OA-icon.png] Functional Consequences of a Novel Variant of PCSK1


[PMID 23451278OA-icon.png] Contribution of Common PCSK1 Genetic Variants to Obesity in 8,359 Subjects from Multi-Ethnic American Population


[PMID 26207343] Revisiting PC1/3 mutants: dominant-negative effect of endoplasmic reticulum-retained mutants