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rs2143571

From SNPedia

Orientationplus
Stabilizedplus
Make rs2143571(A;A)
Make rs2143571(A;G)
Make rs2143571(G;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position43995806
GeneSAMM50
is asnp
is mentioned by
dbSNPrs2143571
dbSNP (classic)rs2143571
ClinGenrs2143571
ebirs2143571
HLIrs2143571
Exacrs2143571
Gnomadrs2143571
Varsomers2143571
LitVarrs2143571
Maprs2143571
PheGenIrs2143571
Biobankrs2143571
1000 genomesrs2143571
hgdprs2143571
ensemblrs2143571
geneviewrs2143571
scholarrs2143571
googlers2143571
pharmgkbrs2143571
gwascentralrs2143571
openSNPrs2143571
23andMers2143571
SNPshotrs2143571
SNPdbers2143571
MSV3drs2143571
GWAS Ctlgrs2143571
GMAF0.3219
Max Magnitude0
? (A;A) (A;G) (G;G) 28


OMIM612364
DescALANINE AMINOTRANSFERASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS
Variant
Relatedalso


[PMID 18940312OA-icon.png] Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.

GWAS snp
PMID [PMID 22719876OA-icon.png]
Trait
Title Genetic Polymorphisms of the Human PNPLA3 Gene Are Strongly Associated with Severity of Non-Alcoholic Fatty Liver Disease in Japanese.
Risk Allele A
P-val 6E-7
Odds Ratio 1.4700 None


[PMID 23535911] Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan.


[PMID 26587038OA-icon.png] Genetic Variants in the SAMM50 Gene Create Susceptibility to Nonalcoholic Fatty Liver Disease in a Chinese Han Population