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rs3748816

From SNPedia

Orientationminus
Stabilizedminus
Make rs3748816(C;C)
Make rs3748816(C;T)
Make rs3748816(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position2595307
GeneMMEL1
is asnp
is mentioned by
dbSNPrs3748816
ebirs3748816
HLIrs3748816
Exacrs3748816
Varsomers3748816
Maprs3748816
PheGenIrs3748816
hapmaprs3748816
1000 genomesrs3748816
hgdprs3748816
ensemblrs3748816
gopubmedrs3748816
geneviewrs3748816
scholarrs3748816
googlers3748816
pharmgkbrs3748816
gwascentralrs3748816
openSNPrs3748816
23andMers3748816
23andMe allrs3748816
SNP Nexus

SNPshotrs3748816
SNPdbers3748816
MSV3drs3748816
GWAS Ctlgrs3748816
GMAF0.477
Max Magnitude
? (C;C) (C;T) (T;T) 28
GWAS snp
PMID [PMID 20190752OA-icon.png]
Trait Celiac disease
Title Multiple common variants for celiac disease influencing immune gene expression
Risk Allele
P-val 3E-9
Odds Ratio 1.12 [1.09-1.18]


[PMID 20574445OA-icon.png] A non-synonymous SNP within the membrane metalloendopeptidase-like 1 gene (MMEL1) is associated with multiple sclerosis.

The G allele is associated with 1.3 times higher odds of primary biliary cirrhosis. [PMID 20639879OA-icon.png]

[PMID 21383967OA-icon.png] Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.


GET Evidence
MMEL1-M509T
aa_change Met509Thr
aa_change_short M509T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.539062
summary



Primary Biliary Cirrhosis: Preliminary Research


[PMID 22521342OA-icon.png] Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci.


[PMID 22922229OA-icon.png] Seven newly identified loci for autoimmune thyroid disease.