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rs4954449

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(T;T) 0 common in clinvar
Make rs4954449(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position135817964
GeneLCT
is asnp
is mentioned by
dbSNPrs4954449
dbSNP (classic)rs4954449
ClinGenrs4954449
ebirs4954449
HLIrs4954449
Exacrs4954449
Gnomadrs4954449
Varsomers4954449
LitVarrs4954449
Maprs4954449
PheGenIrs4954449
Biobankrs4954449
1000 genomesrs4954449
hgdprs4954449
ensemblrs4954449
geneviewrs4954449
scholarrs4954449
googlers4954449
pharmgkbrs4954449
gwascentralrs4954449
openSNPrs4954449
23andMers4954449
SNPshotrs4954449
SNPdbers4954449
MSV3drs4954449
GWAS Ctlgrs4954449
GMAF0.01882
Max Magnitude0
? (C;C) (C;T) (T;T) 28




ClinVar
Risk Rs4954449(C;C)
Alt Rs4954449(C;C)
Reference Rs4954449(T;T)
Significance Non-pathogenic
Disease Lactose intolerance Congenital lactase deficiency
Variation info
Gene LCT
CLNDBN Lactose intolerance Congenital lactase deficiency
Reversed 0
HGVS NC_000002.11:g.136575534T>C
CLNSRC
CLNACC RCV000262636.1, RCV000352993.1,