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rs568413

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs568413(C;T)
Make rs568413(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position21012603
GeneAPOB
is asnp
is mentioned by
dbSNPrs568413
ebirs568413
HLIrs568413
Exacrs568413
Varsomers568413
Maprs568413
PheGenIrs568413
hapmaprs568413
1000 genomesrs568413
hgdprs568413
ensemblrs568413
gopubmedrs568413
geneviewrs568413
scholarrs568413
googlers568413
pharmgkbrs568413
gwascentralrs568413
openSNPrs568413
23andMers568413
23andMe allrs568413
SNP Nexus

SNPshotrs568413
SNPdbers568413
MSV3drs568413
GWAS Ctlgrs568413
GMAF0
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene APOB
allele C
frequency 1
sift TOLERATED
HuRef 1103658040696
Disease Association Defects in APOB associated with defects in other genes (polygenic) can contribute to hypocholesterolemia.



GET Evidence
APOB-Y1422C
aa_change Tyr1422Cys
aa_change_short Y1422C
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.999628
summary This position is almost certainly an error in the HG18 reference sequence.