Table 1.
CHR | rsID | POS | HLOD | GENE | FUNC | EXON | FREQ | SIFT | POLYPH | FATHMM | CADD | REVEL |
---|---|---|---|---|---|---|---|---|---|---|---|---|
7 | rs4719841 | 25997536 | 4.34 | MIR148A; NFE2L3 | Intergenic | . | 0.27 | . | . | . | . | . |
7 | rs235397 | 35372749 | 3.42 | LOC401324 | ncRNA | . | 0.20 | . | . | . | . | . |
7 | rs6462100 | 28754095 | 3.01 | CREB5 | Intronic | . | 0.40 | . | . | . | . | . |
7 | rs7797330 | 30895010 | 2.84 | INMT-MINDY4 | ncRNA | . | 0.38 | . | . | . | . | . |
7 | rs7779240 | 27562660 | 2.82 | EVX1; HIBADH | Intergenic | . | 0.15 | . | . | . | . | . |
20 | rs3746736 | 23424613 | 2.75 | CSTL1 | Exonic | nonsyn | 0.20 | T | B | T | 0.003 | 0.086 |
9 | rs10757225 | 21555445 | 2.73 | MIR31HG | ncRNA | . | 0.18 | . | . | . | . | . |
2 | rs1920511 | 41792845 | 2.59 | SLC8A1; LINC01913 | Intergenic | . | 0.33 | . | . | . | . | . |
7 | rs10270663 | 34786398 | 2.58 | NPSR1-AS1 | ncRNA | . | 0.20 | . | . | . | . | . |
7 | rs1427483 | 33959239 | 2.49 | BMPER | Intronic | . | 0.29 | . | . | . | . | . |
9 | rs61757558 | 117118379 | 2.48 | AKNA | Exonic | nonsyn | 0.06 | D | B | T | 22.6 | 0.019 |
7 | rs2270219 | 31877261 | 2.42 | PDE1C | Intronic | . | 0.23 | . | . | . | . | . |
7 | rs3735400 | 36438709 | 2.40 | ANLN | Exonic | nonsyn | 0.12 | D | D | T | 29.7 | 0.204 |
7 | rs6462088 | 28504566 | 2.40 | CREB5 | Intronic | . | 0.24 | . | . | . | . | . |
7 | rs2011974 | 32611392 | 2.35 | AVL9 | Intronic | . | 0.34 | . | . | . | . | . |
6 | rs214950 | 152708310 | 2.29 | SYNE1 | Exonic | nonsyn | 0.15 | D | B | T | 7.324 | 0.104 |
7 | rs10266620 | 31957550 | 2.29 | PDE1C | Intronic | . | 0.26 | . | . | . | . | . |
1 | rs7550997 | 26596080 | 2.27 | CEP85 | Exonic | nonsyn | 0.18 | T | B | T | 15.09 | 0.043 |
1 | rs8564 | 26605069 | 2.27 | CEP85 | UTR3 | . | 0.18 | . | . | . | . | . |
1 | rs7544 | 26607726 | 2.27 | SH3BGRL3 | UTR3 | . | 0.18 | . | . | . | . | . |
1 | rs10493030 | 26561856 | 2.27 | CEP85 | Intronic | . | 0.18 | . | . | . | . | . |
1 | rs10902732 | 26606174 | 2.27 | SH3BGRL3; CEP85 | Intergenic | 0.18 | . | . | . | . | . | |
1 | rs11247900 | 26612460 | 2.27 | UBXN11 | Exonic | syn | 0.18 | . | . | . | . | . |
1 | rs11577318 | 26601570 | 2.27 | CEP85 | Intronic | . | 0.18 | . | . | . | . | . |
1 | rs17163746 | 26564230 | 2.27 | CEP85 | Intronic | . | 0.18 | . | . | . | . | . |
1 | rs17163749 | 26568165 | 2.26 | CEP85 | Intronic | . | 0.18 | . | . | . | . | . |
10 | rs61729846 | 5920244 | 2.26 | ANKRD16 | Exonic | nonsyn | 0.20 | D | D | T | 26.1 | 0.690 |
18 | rs387462 | 3458997 | 2.26 | TGIF1 | downstream | . | 0.36 | . | . | . | . | . |
7 | rs6952967 | 31795856 | 2.24 | PDE1C | Intronic | . | 0.47 | . | . | . | . | . |
6 | rs791183 | 160610124 | 2.23 | SLC22A1; SLC22A2 | Intergenic | . | 0.40 | . | . | . | . | . |
7 | rs1420123 | 29647662 | 2.16 | PRR15; LOC646762 | Intergenic | . | 0.27 | . | . | . | . | . |
7 | rs1029602 | 24571485 | 2.15 | NPY; MPP6 | Intergenic | . | 0.38 | . | . | . | . | . |
7 | rs4291168 | 31178749 | 2.14 | ADCYAP1R1; NEUROD6 | Intergenic | . | 0.18 | . | . | . | . | . |
20 | rs6036107 | 22403287 | 2.13 | LOC284788; LINC00261 | Intergenic | . | 0.33 | . | . | . | . | . |
1 | rs2228579 | 1223385 | 2.13 | SCNN1D | Exonic | nonsyn | 0.33 | T | B | T | 0.003 | 0.036 |
6 | rs34544438 | 167438292 | 2.12 | FGFR1OP | Exonic | nonsyn | 0.07 | T | B | T | 0.268 | 0.119 |
7 | rs1285407 | 9266388 | 2.11 | NXPH1; PER4 | Intergenic | . | 0.12 | . | . | . | . | . |
7 | rs12113424 | 35423720 | 2.11 | LOC401324; HERPUD2 | Intergenic | . | 0.19 | . | . | . | . | . |
2 | rs13424561 | 73868446 | 2.11 | NAT8 | Exonic | nonsyn | 0.11 | T | B | T | 0.166 | 0.01 |
3 | rs36117895 | 11400019 | 2.10 | ATG7 | Exonic | nonsyn | 0.12 | D | P | T | 25.3 | 0.227 |
9 | rs10511687 | 20764870 | 2.10 | FOCAD | Exonic | nonsyn | 0.32 | T | B | T | 14.75 | 0.069 |
7 | rs6415258 | 32192596 | 2.10 | PDE1C | Intronic | . | 0.27 | . | . | . | . | . |
7 | rs212837 | 26695215 | 2.08 | C7orf71; SKAP2 | Intergenic | . | 0.35 | . | . | . | . | . |
1 | rs12138111 | 26590432 | 2.07 | CEP85 | Intronic | . | 0.19 | . | . | . | . | . |
18 | rs77600482 | 3460731 | 2.06 | TGIF1; GAPLINC | Intergenic | . | 0.15 | . | . | . | . | . |
9 | rs10973446 | 37638744 | 2.05 | TOMM5; FRMPD1 | Intergenic | . | 0.45 | . | . | . | . | . |
18 | rs381234 | 3464650 | 2.02 | TGIF1; GAPLINC | Intergenic | . | 0.38 | . | . | . | . | . |
7 | rs731844 | 34150264 | 2.02 | BMPER | Intronic | . | 0.39 | . | . | . | . | . |
5 | rs7715811 | 13769974 | 2.01 | DNAH5 | Intronic | . | 0.39 | . | . | . | . | . |
5 | rs1502050 | 13779743 | 2.01 | DNAH5 | Intronic | . | 0.38 | . | . | . | . | . |
7 | rs10224983 | 34180326 | 1.98 | BMPER | Intronic | . | 0.15 | . | . | . | . | . |
7 | rs961652 | 34111660 | 1.95 | BMPER | Intronic | . | 0.30 | . | . | . | . | . |
7 | rs16480 | 24311069 | 1.95 | STK31; NPY | Intergenic | . | 0.38 | . | . | . | . | . |
7 | rs2033670 | 22929061 | 1.94 | SNHG26; FAM126A | Intergenic | . | 0.33 | . | . | . | . | . |
10 | rs7071768 | 129903016 | 1.93 | MKI67 | Exonic | nonsyn | 0.47 | T | B | T | 0.001 | 0.022 |
1 | rs10908292 | 36764770 | 1.92 | THRAP3 | Intronic | . | 0.39 | . | . | . | . | . |
20 | rs5741809 | 36956026 | 1.92 | BPI | Exonic | nonsyn | 0.14 | T | B | T | 0.001 | 0.011 |
7 | rs2392246 | 33571828 | 1.91 | BBS9 | Intronic | . | 0.12 | . | . | . | . | . |
7 | rs976681 | 24530016 | 1.91 | NPY; MPP6 | Intergenic | . | 0.36 | . | . | . | . | . |
The list of all significant and suggestive variants from the variant-based linkage analyses, as sorted by HLOD. Here, the headers represent: CHR = chromosome, rsID = rsID of the SNP, POS = physical position in base pairs of the SNP, HLOD = heterogeneity LOD score across all 106 families, GENE = Gene location of the SNP (if intergenic then the two closest genes), FUNC = function of the SNP (e.g. exonic, intronic), EXON = if exonic, the exonic function of the SNP (nonsyn = nonsynonymous, syn = synonymous), FREQ = frequency of the variant in gnomAD Africans, SIFT = SIFT prediction (T = tolerated, D = damaging), POLY = PolyPhen2 prediction score (B = benign, P = possibly damaging, D = damaging), FATHMM = FATHMM prediction (T = tolerated), CADD = CADD phred score ≥ 10 corresponds to 10% most deleterious substitutions in genome, ≥ 20 corresponds to 1% most deleterious substitutions in the genome, etc.), REVEL = REVEL score (corresponds to proportion of trees in random forest algorithm that classified variant as pathogenic).