MAF
HGNC:6776 · 40 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MAF | “RESULT AND DISCUSSION: Minor allele frequency (MAF) distribution revealed the highest genetic diversity in Naemi, followed by Harri and Najdi.” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “Genotype frequencies and minor allele frequencies (MAF) were calculated, and the impact of CYP3A variants on Tac dosing and trough levels (C0) was assessed in SKTP.” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “RESULTS: The significantly reduced minor allele (MAF) and genotype frequencies of rs1554973 were revealed in women with BC, and a dose-dependent decrease in the BC risk was identified among women with rs1554973 genotypes.” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “Notable findings included high frequencies of variants in ATIC [rs4673993, minor allele frequency (MAF) = 0.71)] and SLC19A1 (rs1051266, MAF = 0.48) affecting methotrexate efficacy.” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “Conversely, the CADD scoring revealed 19 putatively pathogenic nsSNPs (Minor Allele Frequency MAF < 0.001, CADD > 30), 11 of which had a significant impact on the solubility and/or stability of COG5.” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “The objective of this work was to find the quantitative trait nucleotides (QTNs) linked to drought tolerance related three traits using a genome-wide association study (GWAS), viz., germination rate (GR), root length (RL), and whole seedling length (WSL), using germplasm population of 240 soybean PIs with 34,817 SNPs genotype data having MAF > 0.05.” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “We identified 13 coding-region non-synonymous variants of the endo-lysosomal genes that were most common with a minor allele frequency (MAF) of ≥ 1 %.” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “These were differentiated on deleterious missense SNPs of the MBOAT4 gene through MAF (minor allele frequency: <0.01) cut-off criteria in relation to some bioinformatics-based supervised machine learning tools.” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “Our analysis revealed 61,410 biallelic single nucleotide variants (SNV) within the Navarrese cohort, with 35% classified as common (MAF > 1%).” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “The IFNL3 rs12979860 genotype distribution of healthy individuals and ILDs patients was shown to be in Hardy-Weinberg equilibrium (HWE) with a minor allele frequency (MAF) of 0.293 and 0.326, respectively.” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “One SNP association in Shisa family member 5 (SHISA5) (rs11707229) was evident at a much higher frequency in the Saudi MI populations (> 12% MAF).” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “Three variants had a MAF of < 0.01 (c.251C > T, p.Pro86Leu; 15C > G, p.S5S; and c.” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “Next, 22 computationally identified variants within 11 genes were selected based on their high citation rate and MAF.” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “RESULTS: The minor allele frequency (MAF) of the rs243864 MMP-2 variant was significantly higher among diabetic retinopathy patients.” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “No significant difference in MAF distribution between cases and controls was observed for rs1051488, rs1131500, rs1050341, and rs1131285 (p > 0.05).” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “The *2 and *17 were the most prevalent alleles (minor allele frequencies, MAF: 32.0% and 13.95%).” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “RESULTS: Minor allele frequencies (MAF) of the rs243865 and the rs243866 MMP-2, were significantly different between T2D cases and controls.” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “We studied the influence of low-frequency coding variants (MAF < 1%) in 8091 genes on multi-dimensional facial shape phenotypes in a European cohort of 2329 healthy individuals.” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “Recurrence risk increased exponentially with increasing ctDNA mutant allele frequency (MAF) (hazard ratio, 1.2, 2.5 and 5.8 for MAF of 0.1%, 0.5% and 1%).” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “Results: The minor allele frequency (MAF) of rs35934224[T] was 0.19 and 0.20 in POAG and controls, respectively.” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “Saudi population specific minor allele frequency (MAF) analysis has confirmed its extremely rare prevalence in homozygous condition (MAF is 0.0004).” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “CYP2D6*2A allele was detected in the homozygous wild type (GG) in 70 out of 107 patients, the heterozygous (GC) in 19 patients, and the homozygous mutant (CC) in 18 patients with minor allele frequency (MAF) of 25.7%.” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “We identified 15 common (minor allele frequency, MAF ≥5%) and nine low-frequency or rare (MAF <5%) coding novel variants.” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “METHODS: We screened PLEC in 359 ARVC patients and compared the frequency of rare coding PLEC variants (minor allele frequency [MAF] <0.001) between patients and controls.” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI.” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “RESULTS: MAF of rs1570360, rs2010963, rs25648, rs833068, rs3025036, and rs3025039 were significantly different between T2DM cases and controls.” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “Sequence validation of 200 chromosomes each of sporadic CD cases and controls, revealed that this extremely rare (EXac MAF 0.000008) mutation is highly penetrant among general Saudi populations (MAF is 0.62).” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals.” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “It has been hypothesized that low frequency (1-5% minor allele frequency (MAF)) and rare (<1% MAF) variants with large effect sizes may contribute to the missing heritability in complex traits.” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “By performing whole-exome sequence association analyses of hematologic quantitative traits in 15,459 community-dwelling individuals, followed by in silico replication in up to 52,024 independent samples, we identified two previously undescribed coding variants associated with lower platelet count: a common missense variant in CPS1 (rs1047891, MAF = 0.33, discovery + replication p = 6.38 × 10(-10)) and a rare synonymous variant in GFI1B (rs150813342, MAF = 0.009, discovery + replication p = 1.79 × 10(-27)).” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “Forty-nine variants were identified: 18 were rare (MAF <1%) and non-synonymous; and 11/18 (61.1%), mostly in SCN10A, were predicted as pathogenic using multiple bioinformatics tools.” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “ZNF469 sequencing in 11 keratoconus families identified 9 rare (minor allele frequency [MAF] ≤ 0.025) variants predicted to be potentially damaging.” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “The combined analysis identified new, significant associations with CRC at 1p36.2 marked by rs72647484 (minor allele frequency [MAF] = 0.09) near CDC42 and WNT4 (P = 1.21 × 10(-8), odds ratio [OR] = 1.21 ) and at 16q24.1 marked by rs16941835 (MAF = 0.21, P = 5.06 × 10(-8); OR = 1.15) within the long non-coding RNA (lncRNA) RP11-58A18.1 and ~500 kb from the nearest coding gene FOXL1.” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “Using additional whole-genome sequence and deeply imputed data sets, we report meta-analysis results for common variants (MAF≥1%) associated with TSH and FT4 (N=16,335).” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “We identify a novel association of a low-frequency nonsynonymous SNV in GLP1R (A316T; rs10305492; MAF=1.4%) with lower FG (β=-0.09±0.01 mmol l(-1), P=3.4 × 10(-12)), T2D risk (OR[95%CI]=0.86[0.76-0.96], P=0.010), early insulin secretion (β=-0.07±0.035 pmolinsulin mmolglucose(-1), P=0.048), but higher 2-h glucose (β=0.16±0.05 mmol l(-1), P=4.3 × 10(-4)).” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “Thereby, the CYP2C19*17 exhibited the highest minor allele frequency (MAF) of 0.256, followed by the CYP2C19_801 (frequency = 0.055).” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “Leveraging phased haplotypes from the 1000 Genomes Project, we report a GWAS meta-analysis of ∼185,000 CAD cases and controls, interrogating 6.7 million common (minor allele frequency (MAF) > 0.05) and 2.7 million low-frequency (0.005 < MAF < 0.05) variants.” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “We found exome-wide significant (P<5×10-7) evidence for two loci not previously highlighted by common variant GWAS: GLP1R (p.Ala316Thr, minor allele frequency (MAF)=1.5%) influencing FG levels, and URB2 (p.Glu594Val, MAF = 0.1%) influencing FI levels.” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “RESULTS: The results of the present study indicates that Q192R polymorphism was significantly associated with GDM in a Saudi population with the minor allele frequency (MAF) (p=0.0007).” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “If PAX6 analysis was negative, the following were performed: candidate gene sequencing (forkhead box C1 [FOXC1], paired-like homeodomain transcription factor 2 [PITX2], cytochrome P450, family 1, subfamily B [CYP1B1], paired-like homeodomain transcription factor 3 [PITX3], and v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog [MAF]) and molecular karyotyping by array competitive genomic hybridization (250K single nucleotide polymorphism (SNP) arrays).” | 0.98 | hgnc_dict_v1 |