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rs3792683

From SNPedia

Orientationplus
Stabilizedplus
Make rs3792683(A;A)
Make rs3792683(A;G)
Make rs3792683(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position99589746
GeneMTTP
is asnp
is mentioned by
dbSNPrs3792683
ebirs3792683
HLIrs3792683
Exacrs3792683
Varsomers3792683
Maprs3792683
PheGenIrs3792683
hapmaprs3792683
1000 genomesrs3792683
hgdprs3792683
ensemblrs3792683
gopubmedrs3792683
geneviewrs3792683
scholarrs3792683
googlers3792683
pharmgkbrs3792683
gwascentralrs3792683
openSNPrs3792683
23andMers3792683
23andMe allrs3792683
SNP Nexus

SNPshotrs3792683
SNPdbers3792683
MSV3drs3792683
GWAS Ctlgrs3792683
GMAF0.123
Max Magnitude
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene MTTP
allele G
frequency 0.008
sift TOLERATED
HuRef 1103654496884
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.



GET Evidence
MTTP-N166S
aa_change Asn166Ser
aa_change_short N166S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0857037
summary