rs145946881
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common genotype |
Make rs145946881(C;G) |
Make rs145946881(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 135851176 |
Gene | MCM6 |
is a | snp |
is | mentioned by |
dbSNP | rs145946881 |
dbSNP (classic) | rs145946881 |
ClinGen | rs145946881 |
ebi | rs145946881 |
HLI | rs145946881 |
Exac | rs145946881 |
Gnomad | rs145946881 |
Varsome | rs145946881 |
LitVar | rs145946881 |
Map | rs145946881 |
PheGenI | rs145946881 |
Biobank | rs145946881 |
1000 genomes | rs145946881 |
hgdp | rs145946881 |
ensembl | rs145946881 |
geneview | rs145946881 |
scholar | rs145946881 |
rs145946881 | |
pharmgkb | rs145946881 |
gwascentral | rs145946881 |
openSNP | rs145946881 |
23andMe | rs145946881 |
SNPshot | rs145946881 |
SNPdbe | rs145946881 |
MSV3d | rs145946881 |
GWAS Ctlg | rs145946881 |
Max Magnitude | 0 |
SNPs found in the introns of the MCM6 gene which turn out to have some control over the lactase LCT gene located many thousands of base pairs away include rs145946881, known as "G/C-14010", which appears to be associated with lactase persistence in sub-Saharan African populations. Two other nearby SNPs, rs41380347 "T/G(-13915)" and rs41525747 "C/G(-13907)", are also associated to a lesser degree. [PMID 17159977, PMID 23029545]
ClinVar | |
---|---|
Risk | rs145946881(G;G) rs145946881(T;T) |
Alt | rs145946881(G;G) rs145946881(T;T) |
Reference | Rs145946881(C;C) |
Significance | Other |
Disease | Lactase persistence |
Variation | info |
Gene | MCM6 |
CLNDBN | Lactase persistence |
Reversed | 0 |
HGVS | NC_000002.11:g.136608746C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008126.2, |
[PMID 29063188] World-wide distributions of lactase persistence alleles and the complex effects of recombination and selection.