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rs121908937

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 5 Congenital lactase deficiency
(C;G) 2.5 Carrier of a congenital lactase deficiency allele
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome2
Position135829593
GeneLCT
is asnp
is mentioned by
dbSNPrs121908937
dbSNP (classic)rs121908937
ClinGenrs121908937
ebirs121908937
HLIrs121908937
Exacrs121908937
Gnomadrs121908937
Varsomers121908937
LitVarrs121908937
Maprs121908937
PheGenIrs121908937
Biobankrs121908937
1000 genomesrs121908937
hgdprs121908937
ensemblrs121908937
geneviewrs121908937
scholarrs121908937
googlers121908937
pharmgkbrs121908937
gwascentralrs121908937
openSNPrs121908937
23andMers121908937
SNPshotrs121908937
SNPdbers121908937
MSV3drs121908937
GWAS Ctlgrs121908937
Max Magnitude5
OMIM603202
Desc
Variant0003
Relatedalso
ClinVar
Risk Rs121908937(C;C)
Alt Rs121908937(C;C)
Reference Rs121908937(G;G)
Significance Pathogenic
Disease Congenital lactase deficiency
Variation info
Gene LCT
CLNDBN Congenital lactase deficiency
Reversed 1
HGVS NC_000002.11:g.136587163C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006966.2,