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rs4954449

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs4954449(C;T)
Make rs4954449(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position135817964
GeneLCT
is asnp
is mentioned by
dbSNPrs4954449
ebirs4954449
HLIrs4954449
Exacrs4954449
Varsomers4954449
Maprs4954449
PheGenIrs4954449
hapmaprs4954449
1000 genomesrs4954449
hgdprs4954449
ensemblrs4954449
gopubmedrs4954449
geneviewrs4954449
scholarrs4954449
googlers4954449
pharmgkbrs4954449
gwascentralrs4954449
openSNPrs4954449
23andMers4954449
23andMe allrs4954449
SNP Nexus

SNPshotrs4954449
SNPdbers4954449
MSV3drs4954449
GWAS Ctlgrs4954449
GMAF0.01882
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene LCT
allele C
frequency 1
sift TOLERATED
HuRef 1103658227802
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.



GET Evidence
LCT-I362V
aa_change Ile362Val
aa_change_short I362V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.976576
summary