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. 2021 Jul 9;62(9):16. doi: 10.1167/iovs.62.9.16

Table 1.

All Significant and Suggestive HLOD Scores From Variant Based Linkage

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).