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rs6234

From SNPedia

Orientationminus
Stabilizedminus
Make rs6234(C;C)
Make rs6234(C;G)
Make rs6234(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position96393270
GeneCTD-2337A12.1, PCSK1
is asnp
is mentioned by
dbSNPrs6234
ebirs6234
HLIrs6234
Exacrs6234
Varsomers6234
Maprs6234
PheGenIrs6234
hapmaprs6234
1000 genomesrs6234
hgdprs6234
ensemblrs6234
gopubmedrs6234
geneviewrs6234
scholarrs6234
googlers6234
pharmgkbrs6234
gwascentralrs6234
openSNPrs6234
23andMers6234
23andMe allrs6234
SNP Nexus

SNPshotrs6234
SNPdbers6234
MSV3drs6234
GWAS Ctlgrs6234
GMAF0.258
Max Magnitude
? (C;C) (C;G) (G;G) 28
Venter snp
Source plos
Gene PCSK1
allele C
frequency 0.271
sift TOLERATED
HuRef 1103654167116
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.



Neighborrs6235
Distance76
OMIM612362
DescBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12; BMIQ12
Variant
Relatedalso
OMIM162150
DescPROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 1; PCSK1
Variant
Relatedalso
[PMID 22307923OA-icon.png] Allelic clustering and ancestry-dependent frequencies of rs6232, rs6234, and rs6235 PCSK1 SNPs in a Northern Ontario population sample


[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-Q665E
aa_change Gln665Glu
aa_change_short Q665E
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.247165
summary



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


[PMID 24489861OA-icon.png] Genetic Variants in PCSK1 Gene Are Associated with the Risk of Coronary Artery Disease in Type 2 Diabetes in a Chinese Han Population: A Case Control Study


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