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rs6235

From SNPedia

Orientationminus
Stabilizedminus
Make rs6235(C;C)
Make rs6235(C;G)
Make rs6235(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position96393194
GeneCTD-2337A12.1, PCSK1
is asnp
is mentioned by
dbSNPrs6235
ebirs6235
HLIrs6235
Exacrs6235
Varsomers6235
Maprs6235
PheGenIrs6235
hapmaprs6235
1000 genomesrs6235
hgdprs6235
ensemblrs6235
gopubmedrs6235
geneviewrs6235
scholarrs6235
googlers6235
pharmgkbrs6235
gwascentralrs6235
openSNPrs6235
23andMers6235
23andMe allrs6235
SNP Nexus

SNPshotrs6235
SNPdbers6235
MSV3drs6235
GWAS Ctlgrs6235
GMAF0.2461
Max Magnitude
? (C;C) (C;G) (G;G) 28
Venter snp
Source plos
Gene PCSK1
allele G
frequency 0.267
sift TOLERATED
HuRef 1103654167117
Disease Association Defects in PCSK1 are the cause of proprotein convertase 1 deficiency (PC1 deficiency) (MIM:600955). This disease is characterized by obesity, hypogonadism, hypoadrenalism, reactive hypoglycemia as well as marked small-intestinal absorptive dysfunction It is due to impaired processing of prohormones.



Neighborrs6234
Distance76
[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


[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

GWAS snp
PMID [PMID 21873549OA-icon.png]
Trait
Title Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.
Risk Allele G
P-val 1E-26
Odds Ratio None None


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


[PMID 19164386OA-icon.png] Replication and extension of genome-wide association study results for obesity in 4923 adults from northern Sweden.


[PMID 19526209OA-icon.png] Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?


[PMID 19876004] Obesity-related polymorphisms and their associations with the ability to regulate fat oxidation in obese Europeans: the NUGENOB study.


[PMID 20498726OA-icon.png] Association of PCSK1 rs6234 with obesity and related traits in a Chinese Han population.


[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-S690T
aa_change Ser690Thr
aa_change_short S690T
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.235174
summary



[PMID 23098650] Impact of variants within seven candidate genes on statin treatment efficacy


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


[PMID 24140494] Association of the rs6235 variant in the proprotein convertase subtilisin/kexin type 1 (PCSK1) gene with obesity and related traits in a Taiwanese population


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

GWAS snp
PMID [PMID 23903356OA-icon.png]
Trait Glycemic traits (pregnancy)
Title Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.
Risk Allele G
P-val 5E-15
Odds Ratio .01 [NR] unit decrease


[PMID 24964673] Effects of PCSK1 genetic variants on obesity among Thai children and their family members: in relation to health risk, and biochemical and anthropometric parameters


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


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