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rs2306985

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs2306985(C;G)
Make rs2306985(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position99594865
GeneMTTP
is asnp
is mentioned by
dbSNPrs2306985
ebirs2306985
HLIrs2306985
Exacrs2306985
Varsomers2306985
Maprs2306985
PheGenIrs2306985
hapmaprs2306985
1000 genomesrs2306985
hgdprs2306985
ensemblrs2306985
gopubmedrs2306985
geneviewrs2306985
scholarrs2306985
googlers2306985
pharmgkbrs2306985
gwascentralrs2306985
openSNPrs2306985
23andMers2306985
23andMe allrs2306985
SNP Nexus

SNPshotrs2306985
SNPdbers2306985
MSV3drs2306985
GWAS Ctlgrs2306985
GMAF0.4922
Max Magnitude0
? (C;C) (C;G) (G;G) 28


Venter snp
Source plos
Gene MTTP
allele G
frequency 0.342
sift
HuRef 1103654496895
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.



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


GET Evidence
MTTP-H297Q
aa_change His297Gln
aa_change_short H297Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.494702
summary



ClinVar
Risk rs2306985(G;G)
Alt rs2306985(G;G)
Reference rs2306985(C;C)
Significance Probable-non-pathogenic
Disease not specified
Variation info
Gene MTTP
CLNDBN not specified
Reversed 0
HGVS NC_000004.11:g.100516022C>G
CLNSRC ClinVar University of Chicago
CLNACC RCV000117640.2,