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rs17029215

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs17029215(A;C)
Make rs17029215(C;C)
ReferenceGRCh38 38.1/141
Chromosome4
Position99600648
GeneMTTP
is asnp
is mentioned by
dbSNPrs17029215
ebirs17029215
HLIrs17029215
Exacrs17029215
Varsomers17029215
Maprs17029215
PheGenIrs17029215
hapmaprs17029215
1000 genomesrs17029215
hgdprs17029215
ensemblrs17029215
gopubmedrs17029215
geneviewrs17029215
scholarrs17029215
googlers17029215
pharmgkbrs17029215
gwascentralrs17029215
openSNPrs17029215
23andMers17029215
23andMe allrs17029215
SNP Nexus

SNPshotrs17029215
SNPdbers17029215
MSV3drs17029215
GWAS Ctlgrs17029215
GMAF0.05005
Max Magnitude0
? (A;A) (A;C) (C;C) 28
Venter snp
Source plos
Gene MTTP
allele C
frequency 0
sift TOLERATED
HuRef 1103654496903
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-D384A
aa_change Asp384Ala
aa_change_short D384A
impact benign
qualified_impact Insufficiently evaluated benign
overall_frequency 0.0786391
summary This variant was found in an individual with familial hypobetalipoproteinemia as part of a compound heterozygote with G661A and with a background of homozygosity for ApoE2.