SNPs in genes encoding LRRC8 proteins are associated with MPV
| SNP variant∗ . | Chromosome location† . | Allele variation‡ . | Nearest assigned gene∗ . | P value§ . | Rank of MPV phenotype for SNP|| . | Beta¶ . | Effective sample size . | Most severe predicted variant consequence . |
|---|---|---|---|---|---|---|---|---|
| rs72758878 | 9:128883060 | C>T | LRRC8A | 7.4 × 10−18 | 1 | ▲ 0.072 | 694 866 | 5' UTR variant# |
| rs496954 | 1:89763836 | T>A | LRRC8C | 2.7 × 10−34 | 1 | ▲ 0.021 | 694 866 | 3' UTR variant∗∗ |
| rs150448650 | 1:89843520 | G>A | LRRC8D | 3.7 × 10−12 | 1 | ▼ −0.084 | 396 616 | 5' UTR variant†† |
| SNP variant∗ . | Chromosome location† . | Allele variation‡ . | Nearest assigned gene∗ . | P value§ . | Rank of MPV phenotype for SNP|| . | Beta¶ . | Effective sample size . | Most severe predicted variant consequence . |
|---|---|---|---|---|---|---|---|---|
| rs72758878 | 9:128883060 | C>T | LRRC8A | 7.4 × 10−18 | 1 | ▲ 0.072 | 694 866 | 5' UTR variant# |
| rs496954 | 1:89763836 | T>A | LRRC8C | 2.7 × 10−34 | 1 | ▲ 0.021 | 694 866 | 3' UTR variant∗∗ |
| rs150448650 | 1:89843520 | G>A | LRRC8D | 3.7 × 10−12 | 1 | ▼ −0.084 | 396 616 | 5' UTR variant†† |
▲, increase in MPV; ▼, decrease in MPV; UTR, untranslated region.
SNP variants associated with MPV in the National Health Genome Research Institute, European Bioinformatics Institute Catalog of human genome-wide association studies (ebi.ac.uk/gwas/home).
Nucleotide position in the Genome Reference Consortium human build 38 (chromosome: nucleotide; ncbi.nlm.nih.gov/snp/).
Ancestral allele is greater than variant allele (ncbi.nlm.nih.gov/snp/).
P value for the association between the SNP variant and MPV phenotype (gwas.mrcieu.ac.uk/phewas/).
Rank of the association between the SNP variant and MPV phenotype, from most (1) to least significant (gwas.mrcieu.ac.uk/phewas/).
Per-unit change in MPV associated with the SNP variant.
Reference SNP cluster identifier: rs72758878 (National Center for Biotechnology Information database of SNP; ncbi.nlm.nih.gov/snp/?term=rs72758878).
Ensembl variant: rs496954 (useast.ensembl.org/Homo_sapiens/Variation/Explore?db=core;r=1:89763336-89764336;v=rs496954;vdb=variation;vf=25209).
Ensembl variant: rs150448650 (useast.ensembl.org/Homo_sapiens/Variation/Explore?r=1:89843020-89844020;v=rs150448650;vdb=variation;vf=2698779).