chr2:135851076:G>A Detail (hg38) (LCT, MCM6)

Information

Genome

Assembly Position
hg19 chr2:136,608,646-136,608,646 View the variant detail on this assembly version.
hg38 chr2:135,851,076-135,851,076

HGVS

Type Transcript Protein
RefSeq NM_005915.5:c.1917+326C>T
Ensemble ENST00000264156.3:c.1917+326C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance association
Review star
Show details
Links
Type Database ID Link
Gene MIM 601806 OMIM
HGNC 6949 HGNC
Ensembl ENSG00000076003 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv311596039 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
association 2021-01-26 no assertion criteria provided Lactase persistence germline unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.006 Lactase persistence The T allele of a functional polymorphism (rs4988235: LCT-13910 C>T), close t... BeFree 23647908 Detail
0.003 irritable bowel syndrome Genetic variants in the OXT promoter region, and in the OXTR gene in DNA samples... BeFree 19943975 Detail
0.015 Lactase persistence In 97,811 individuals from the Danish general population, we examined the risk o... BeFree 26156736 Detail
0.001 obesity The -13910C>T polymorphism (rs4988235) upstream from the lactase (LCT) gene, ... BeFree 21193851 Detail
0.015 Lactase persistence A substitution of C to T at position -13910 bp upstream the LCT gene (rs4988235)... BeFree 18605960 Detail
0.005 irritable bowel syndrome Genetic variants in the OXT promoter region, and in the OXTR gene in DNA samples... BeFree 19943975 Detail
0.015 Lactase persistence The -13910C>T polymorphism (rs4988235) upstream from the lactase (LCT) gene, ... BeFree 21193851 Detail
0.003 irritable bowel syndrome Genetic variants in the OXT promoter region, and in the OXTR gene in DNA samples... BeFree 19943975 Detail
0.001 obesity In 97,811 individuals from the Danish general population, we examined the risk o... BeFree 26156736 Detail
0.015 Lactase persistence The T allele of a functional polymorphism (rs4988235: LCT-13910 C>T), close t... BeFree 23647908 Detail
<0.001 Overweight In 97,811 individuals from the Danish general population, we examined the risk o... BeFree 26156736 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002299.2(LCT):c.-13907C>T AND Lactase persistence ClinVar Detail
The T allele of a functional polymorphism (rs4988235: LCT-13910 C&gt;T), close to the lactase gene, ... DisGeNET Detail
Genetic variants in the OXT promoter region, and in the OXTR gene in DNA samples from 131 rigorously... DisGeNET Detail
In 97,811 individuals from the Danish general population, we examined the risk of incident type 2 di... DisGeNET Detail
The -13910C&gt;T polymorphism (rs4988235) upstream from the lactase (LCT) gene, strongly associated ... DisGeNET Detail
A substitution of C to T at position -13910 bp upstream the LCT gene (rs4988235), in a regulatory re... DisGeNET Detail
Genetic variants in the OXT promoter region, and in the OXTR gene in DNA samples from 131 rigorously... DisGeNET Detail
The -13910C&gt;T polymorphism (rs4988235) upstream from the lactase (LCT) gene, strongly associated ... DisGeNET Detail
Genetic variants in the OXT promoter region, and in the OXTR gene in DNA samples from 131 rigorously... DisGeNET Detail
In 97,811 individuals from the Danish general population, we examined the risk of incident type 2 di... DisGeNET Detail
The T allele of a functional polymorphism (rs4988235: LCT-13910 C&gt;T), close to the lactase gene, ... DisGeNET Detail
In 97,811 individuals from the Danish general population, we examined the risk of incident type 2 di... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4988235 dbSNP
Genome
hg38
Position
chr2:135,851,076-135,851,076
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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