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rs2306986

From SNPedia

Orientationplus
Stabilizedplus
Make rs2306986(C;C)
Make rs2306986(C;G)
Make rs2306986(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position99583418
GeneMTTP
is asnp
is mentioned by
dbSNPrs2306986
ebirs2306986
HLIrs2306986
Exacrs2306986
Varsomers2306986
Maprs2306986
PheGenIrs2306986
hapmaprs2306986
1000 genomesrs2306986
hgdprs2306986
ensemblrs2306986
gopubmedrs2306986
geneviewrs2306986
scholarrs2306986
googlers2306986
pharmgkbrs2306986
gwascentralrs2306986
openSNPrs2306986
23andMers2306986
23andMe allrs2306986
SNP Nexus

SNPshotrs2306986
SNPdbers2306986
MSV3drs2306986
GWAS Ctlgrs2306986
GMAF0.1267
Max Magnitude
? (C;C) (C;G) (G;G) 28


Venter snp
Source plos
Gene MTTP
allele C
frequency 0.008
sift TOLERATED
HuRef 1103654496850
Disease Association Defects in MTTP are the cause of abetalipoproteinemia (ABL) (MIM:200100). ABL is an autosomal recessive disorder of lipoprotein metabolism. Affected individuals produce virtually no circulating apolipoprotein B-containing lipoproteins (chylomicrons, VLDL, LDL, lipoprotein(A)). Malabsorption of the antioxidant vitamin E occurs, leading to spinocerebellar and retinal degeneration.



Neighborrs3816873
Distance89
[PMID 19878569OA-icon.png] Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis.


GET Evidence
MTTP-E98D
aa_change Glu98Asp
aa_change_short E98D
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0891761
summary