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rs6234

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs6234(C;G)
Make rs6234(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position96393270
GeneLOC101929710, PCSK1
is asnp
is mentioned by
dbSNPrs6234
dbSNP (classic)rs6234
ClinGenrs6234
ebirs6234
HLIrs6234
Exacrs6234
Gnomadrs6234
Varsomers6234
LitVarrs6234
Maprs6234
PheGenIrs6234
Biobankrs6234
1000 genomesrs6234
hgdprs6234
ensemblrs6234
geneviewrs6234
scholarrs6234
googlers6234
pharmgkbrs6234
gwascentralrs6234
openSNPrs6234
23andMers6234
SNPshotrs6234
SNPdbers6234
MSV3drs6234
GWAS Ctlgrs6234
GMAF0.258
Max Magnitude0
? (C;C) (C;G) (G;G) 28



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.



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


ClinVar
Risk rs6234(G;G)
Alt rs6234(G;G)
Reference Rs6234(C;C)
Significance Probable-non-pathogenic
Disease Proprotein convertase 1/3 deficiency Monogenic Non-Syndromic Obesity
Variation info
Gene PCSK1 LOC101929710
CLNDBN Proprotein convertase 1/3 deficiency Monogenic Non-Syndromic Obesity
Reversed 1
HGVS NC_000005.9:g.95728974G>C
CLNSRC
CLNACC RCV000342685.1, RCV000397598.1,