rs6235
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs6235(C;C) |
| Make rs6235(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 96393194 |
| Gene | LOC101929710, PCSK1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6235 |
| dbSNP (classic) | rs6235 |
| ClinGen | rs6235 |
| ebi | rs6235 |
| HLI | rs6235 |
| Exac | rs6235 |
| Gnomad | rs6235 |
| Varsome | rs6235 |
| LitVar | rs6235 |
| Map | rs6235 |
| PheGenI | rs6235 |
| Biobank | rs6235 |
| 1000 genomes | rs6235 |
| hgdp | rs6235 |
| ensembl | rs6235 |
| geneview | rs6235 |
| scholar | rs6235 |
| rs6235 | |
| pharmgkb | rs6235 |
| gwascentral | rs6235 |
| openSNP | rs6235 |
| 23andMe | rs6235 |
| SNPshot | rs6235 |
| SNPdbe | rs6235 |
| MSV3d | rs6235 |
| GWAS Ctlg | rs6235 |
| GMAF | 0.2461 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 19528091
] Association of variants in the PCSK1 gene with obesity in the EPIC-Norfolk Study
[PMID 20534142] Association of obesity risk SNPs in PCSK1 with insulin sensitivity and proinsulin conversion
[PMID 21935364] The Effect of PCSK1 Variants on Waist, Waist-Hip Ratio and Glucose Metabolism Is Modified by Sex and Glucose Tolerance Status
[PMID 22307923] Allelic clustering and ancestry-dependent frequencies of rs6232, rs6234, and rs6235 PCSK1 SNPs in a Northern Ontario population sample
| GWAS snp | |
|---|---|
| PMID | [PMID 21873549]
|
| 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 22737226] PCSK1 rs6232 Is Associated with Childhood and Adult Class III Obesity in the Mexican Population
[PMID 19164386] Replication and extension of genome-wide association study results for obesity in 4923 adults from northern Sweden.
[PMID 19526209] 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 20498726] 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.
[PMID 23098650] Impact of variants within seven candidate genes on statin treatment efficacy
[PMID 23383060] Functional Consequences of a Novel Variant of PCSK1
[PMID 23451278] Contribution of Common PCSK1 Genetic Variants to Obesity in 8,359 Subjects from Multi-Ethnic American Population
[PMID 23424664] 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 23903356]
|
| 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
| ClinVar | |
|---|---|
| Risk | rs6235(C;C) |
| Alt | rs6235(C;C) |
| Reference | Rs6235(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | Monogenic Non-Syndromic Obesity Proprotein convertase 1/3 deficiency |
| Variation | info |
| Gene | LOC101929710 PCSK1 |
| CLNDBN | Monogenic Non-Syndromic Obesity Proprotein convertase 1/3 deficiency |
| Reversed | 1 |
| HGVS | NC_000005.9:g.95728898C>G |
| CLNSRC | |
| CLNACC | RCV000304198.1, RCV000404859.1, |
