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rs2322659

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs2322659(C;C)
Make rs2322659(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position135798089
GeneLCT
is asnp
is mentioned by
dbSNPrs2322659
dbSNP (old)rs2322659
ClinGenrs2322659
ebirs2322659
HLIrs2322659
Exacrs2322659
Gnomadrs2322659
Varsomers2322659
Maprs2322659
PheGenIrs2322659
Biobankrs2322659
1000 genomesrs2322659
hgdprs2322659
ensemblrs2322659
gopubmedrs2322659
geneviewrs2322659
scholarrs2322659
googlers2322659
pharmgkbrs2322659
gwascentralrs2322659
openSNPrs2322659
23andMers2322659
23andMe allrs2322659
SNP Nexus

SNPshotrs2322659
SNPdbers2322659
MSV3drs2322659
GWAS Ctlgrs2322659
GMAF0.4885
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene LCT
allele C
frequency 0.833
sift AFFECT FUNCTION
HuRef 1103658227778
Disease Association Defects in the upstream vicinity of LCT are the cause of disaccharide intolerance III (MIM:223100); also known as adult lactase deficiency or adult-type hypolactasia. In many human populations the activity of LCT declines in adults, leading to adult-type hypolactasia, whereas in other populations the high activity persists.



[PMID 15114531OA-icon.png] Genetic signatures of strong recent positive selection at the lactase gene.


[PMID 19326473OA-icon.png] Natriuretic peptide system gene variants are associated with ventricular dysfunction after coronary artery bypass grafting.


[PMID 20017971OA-icon.png] Assessing the impact of global versus local ancestry in association studies.


[PMID 20031626OA-icon.png] Variation in the 4q25 chromosomal locus predicts atrial fibrillation after coronary artery bypass graft surgery.


GET Evidence
LCT-N1639S
aa_change Asn1639Ser
aa_change_short N1639S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.612381
summary



[PMID 23420841OA-icon.png] Genetic dissection of the preeclampsia susceptibility locus on chromosome 2q22 reveals shared novel risk factors for cardiovascular disease


ClinVar
Risk rs2322659(C;C)
Alt rs2322659(C;C)
Reference Rs2322659(T;T)
Significance Non-pathogenic
Disease Congenital lactase deficiency Lactose intolerance
Variation info
Gene LCT
CLNDBN Congenital lactase deficiency Lactose intolerance
Reversed 0
HGVS NC_000002.11:g.136555659T>C
CLNSRC
CLNACC RCV000349439.1, RCV000392923.1,