Table .
List of common single nucleotide variations in both families.
| Chr. Location | Gene | Biological Process / Gene Ontologya | n | Variantb | Variant Classc | Enhanced Expressiond |
|---|---|---|---|---|---|---|
| 9q33.3 | OLFML2A | Protein homodimerization activity | 1 | rs7874348 (A/G) | Missense | Low tissue specificity |
| 5q31.3 | SLC4A9 | Anion transmembrane transporter activity | 1 | rs6860077 (T/C/G) | Missense | Kidney, heart |
| 13q.34 | COL4A1 | Basal membrane formation | 1 | rs9521687 (C/A) | 5’UTR | Placenta |
| 13q33.3 | FAM155A | Calcium ion import across plasma membrane | 2 | rs1543002 (C/T), rs1543003 (T/A/C) | Intronic | Brain, pituitary gland |
| 5q31.3 | NR3C1 | Apoptosis, cell cycle, transcription regulation | 2 | rs4607376 (A/G/T), rs6871464 (T/C) | Intronic | Low Tissue Specificity |
| 5q31.1 | TRPC7 | Calcium transport | 2 | rs6893792 (T/A/C), rs10463951 (C/A/G/T) | Intronic | Adrenal gland, brain, intestine, kidney, pituitary gland, testis |
| 9q33.1 | ASTN2 | Protein transport | 5 | rs2274414 (T/G), rs16936575 (G/A/T), rs12554069 (T/C), rs6478300 (C/A), rs10983600 (C/T) | Intronic | Low tissue specificity |
| 9q33.2 | TRAF1 | Apoptosis | 1 | rs3761847 (G/A) | Intronic | Low tissue specificity |
| 3p24.1 | LINC00693 | N/A | 1 | rs9875884 (T/C) | Intronic | Brain |
| 13q33.3 | MYO16 | Motor activity, actin binding | 4 | rs76754941 (G/A), rs2759273 (T/C), rs9514937 (G/A), rs9521082 (A/G) | Intronic | Brain |
| 13q.34 | COL4A2 | Basal membrane formation | 7 | rs73619284 (C/T), rs8001070 (G/A), rs9555689 (G/A/T), rs7317178 (C/A/T), rs12323265 (A/G), rs9515209 (C/T), rs4517640 (C/T) | Intronic | Placenta |
| 5q31.1 | FSTL4 | Calcium ion binding, metal ion binding | 1 | rs55962865 (A/C) | Intronic | Brain |
| 5q31.3 | FGF1 | Angiogenesis, differentiation | 1 | rs2339246 (C/G/T) | Intronic | Brain, heart muscle, kidney |
| 5q31.3 | ARHGAP26 | GTPase activity | 1 | rs77545201 (G/T) | Intronic | Low tissue specificity |
| 5q32 | HTR4 | G protein-coupled receptor activity | 1 | rs1820075 (C/T) | Intronic | Brain, heart muscle, intestine, pituitary gland |
| 5q32 | ADRB2 | G protein-coupled receptor activity | 1 | rs6893517 (G/A) | Intronic | Blood |
| 9q32 | COL27A1 | Extracellular matrix structural constituent | 1 | rs2567714 (T/C) | Intronic | Brain, uterine, cervix |
| 9q33.1 | BRINP1 | Inhibits cell proliferation by negative regulation of the G1/S transition | 1 | rs1332453 (A/C) | Intronic | Brain |
| 9q33.2 | PHF19 | Chromatin regulator | 2 | rs11794516 (A/G), rs2072438 (T/C) | Intronic | Low tissue specificity |
| 9q33.2 | CNTRL | Cell cycle, cell division | 1 | rs746182 (T/A/C) | Intronic | Low tissue specificity |
| 9q33.3 | MVB12B | Protein transport | 1 | rs7047946 (G/A) | Intronic | Brain |
| 9q34.11 | USP20 | Endocytosis, Ubl conjugation pathway | 2 | rs10819567 (A/C/G), rs62583579 (C/T) | Intronic | Low tissue specificity |
| 9q34.11 | LOC101929331 | N/A | 2 | rs10819490 (C/T), rs10988311 (T/G) | Intronic | N/A |
| 5q23.1 | LINC00992 | N/A | 3 | rs1863977 (G/A), rs12332110 (G/A/T), rs62380137 (G/A/T) | Intronic | Pancreas, colon |
| 5q31.1 | LOC100996485 | N/A | 1 | rs2059780 (G/A) | Intronic | N/A |
| 5q31.3 | LOC101926941 | N/A | 3 | rs9324876 (A/G), rs959662 (A/C/G), rs9800206 (C/A/T) | Intronic | N/A |
| 17q21.33 | LOC100288866 | N/A | 1 | rs2537720 (G/A) | Intronic | Low tissue specificity |
| 7q22.2 | LHFPL3 | N/A | 2 | rs2470957 (G/A/T), rs12667640 (T/C) | Intronic | Brain |
| 7q22.3 | LHFPL3 - AS2 | N/A | 1 | rs10953457 (C/T) | Intronic | Kidney |
N/A: no known function or expression, n: number of reported variations in a gene, aAccording to Gene Cards Weizmann Institute of Science (2020). GeneCards: The Human Gene Database [online]. Website https://www.genecards.org [accessed 01 September 2020].and Gene Ontology Gene Ontology Consortium (2020). The Gene Ontology Resource [online]. Website http://geneontology.org/ [accessed 01 September 2020]. databases, bNucleotide changes were determined through dbSNP database National Center for Biotechnology Information (2020). dbSNP database [online]. Website https://www.ncbi.nlm.nih.gov/snp/ [accessed 01 September 2020]., cVariant classes were determined through Genome Browser database University of California Santa Cruz Genomics Institute (2020). Genome Browser database [online]. Website https://genome.ucsc.edu [accessed 01 September 2020., dAccording to Gene Cards database.