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rs6006460

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
(G;T) 1.5 lower liver triglyceride (fat) levels
(T;T) 1.5 lower liver triglyceride (fat) levels
ReferenceGRCh38 38.1/141
Chromosome22
Position43946294
GenePNPLA3
is asnp
is mentioned by
dbSNPrs6006460
ebirs6006460
HLIrs6006460
Exacrs6006460
Varsomers6006460
Maprs6006460
PheGenIrs6006460
hapmaprs6006460
1000 genomesrs6006460
hgdprs6006460
ensemblrs6006460
gopubmedrs6006460
geneviewrs6006460
scholarrs6006460
googlers6006460
pharmgkbrs6006460
gwascentralrs6006460
openSNPrs6006460
23andMers6006460
23andMe allrs6006460
SNP Nexus

SNPshotrs6006460
SNPdbers6006460
MSV3drs6006460
GWAS Ctlgrs6006460
GMAF0.03168
Max Magnitude1.5
? (G;G) (G;T) (T;T) 28

nature rs6006460(T) (S453I) lower hepatic fat content; by an average of 18% compared to the common (G;G) genotypes, at least as measured in African-Americans sampled.

OMIM228100
DescFATTY METAMORPHOSIS OF VISCERA
Variant
Relatedalso
OMIM613282
Desc
Variant
Relatedalso
[PMID 18820647OA-icon.png] Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease.


GET Evidence
PNPLA3-S453I
aa_change Ser453Ile
aa_change_short S453I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0356944
summary