rs2143571

Orientation

plus

Stabilized

plus

Make rs2143571(A;A)

Make rs2143571(A;G)

Make rs2143571(G;G)

Reference

GRCh38 38.1/141

Chromosome

22

Position

43995806

Gene

SAMM50

is a	snp
is	mentioned by
dbSNP	rs2143571
dbSNP (classic)	rs2143571
ClinGen	rs2143571
ebi	rs2143571
HLI	rs2143571
Exac	rs2143571
Gnomad	rs2143571
Varsome	rs2143571
LitVar	rs2143571
Map	rs2143571
PheGenI	rs2143571
Biobank	rs2143571
1000 genomes	rs2143571
hgdp	rs2143571
ensembl	rs2143571
geneview	rs2143571
scholar	rs2143571
google	rs2143571
pharmgkb	rs2143571
gwascentral	rs2143571
openSNP	rs2143571
23andMe	rs2143571
SNPshot	rs2143571
SNPdbe	rs2143571
MSV3d	rs2143571
GWAS Ctlg	rs2143571

GMAF

0.3219

Max Magnitude

0

?

(A;A) (A;G) (G;G)

28

OMIM	612364
Desc	ALANINE AMINOTRANSFERASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS
Variant
Related	also

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

GWAS snp
PMID	[PMID 22719876 ]
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 26587038 ] Genetic Variants in the SAMM50 Gene Create Susceptibility to Nonalcoholic Fatty Liver Disease in a Chinese Han Population