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. 2020 Dec 3;15(12):e0242684. doi: 10.1371/journal.pone.0242684

Table 8. Summary of neurological development variants.

Chr rsID Nearest Gene Bayley Phenotype Growth Phenotype P-Val N Relevant Expression & effects of variants Literature Reference
17 rs178850 RAB11FIP4 Adaptive lambda 2.02E-08 428 Highly brain specific (7-10-fold higher than other tissues), affects neurofibroma growth, next to NF1 and OMG Bartelt-Kirbach et al., 2009 [44]
1 rs6672510 PLD5 * lambda 3.12E-08 1053 High expression in brain, then adrenal and ovary, previously associated with autism and multiple sclerosis. Anney et al., 2010 [45], Baranzini et al., 2009 [46]
5 rs6878810 LHFPL2 Social-Emotional alpha 1.13E-07 428 Genetic modifier of Parkinson's age of onset, new AD susceptibility locus Hill-Burns et al., 2016 [25], Potkin et al., 2009 [26]
XY-PAR1 rs5949162 LOC107985677 Social-emotional * 1.92E-07 227 (M) high expression in brain and endometrium
1 rs584297 LOC105373115, (near STUM) Adaptive lambda 3.15E-07 428 STUM codes for highly brain specific, mechanosensory protein Desai et al., 2014 [47]
1 rs525410 LAMC2 Social-Emotional lambda 4.56E-07 428 LAMC1 is just upstream, highly placenta specific, LAMC2 is near NMNAT2, brain specific, cognitive traits candidate Bi, et al., 2017 [48], Sun et al., 2008 [43]
8 rs7387693 MTMR7 Adaptive * 9.54E-07 433 Highly brain specific, candidate for Creutzfeldt-Jacob risk, smoking cessation Sanchez-Juan et al., 2012 [49]
12 rs1291359 HTR7P1 Adaptive * 1.55E-07 433 Serotonin receptor pseudogene, SNP is in promoter region of HEBP1 (Immune system related)
8 rs11787410 CSMD1 Adaptive lambda 8.84E-07 428 High brain and testis expression, linked to schizophrenia risk Sakamoto et al., 2016 [50]
11 rs10769889 LMO1 Social-Emotional alpha 8.88E-07 428 Pediatric neuroblastoma susceptibility candidate, expressed in adrenal, brain and skin Oldridge et al., 2015 [51]
3 rs4955988 CACNA2D3 Adaptive * 2.13E-06 433 highest expression in brain, next in adrenal, calcium channel subunit, role in regulating iron uptake Baeza-Richer, Carlos et al. (2013) [52]
8 rs7462219 MTMR7 Adaptive * 2.67E-06 433 Highly brain specific, candidate for Creutzfeldt-Jacob risk, smoking cessation Sanchez-Juan et al., 2012 [49]
XY—PAR2 rs306875 SPRY3 Adaptive linf 1.15E-06 223 (M) Brain expression, Placental expression, autism candidate Ning et al., 2015 [53]
9 rs4741967 SLC1A1 Social-Emotional linf 1.21E-06 428 Glutamate transporter implicated in epilepsy, linked to OCD risk Afshari et al., 2015 [54], Arnold, et al., 2006 [55]
22 rs5751491 LINC01639, just upstream of MPPED1 Adaptive lambda 1.32E-06 428 Almost exclusively brain expressed, region linked to schizophrenia risk, bipolar disorder and brain malignancies Chen et al., 2010 [56]
17 rs11658800 ELAC2 Language * 2.48E-06 433 High expression in the brain tissues
16 rs2938729 CDH8 Language linf 1.61E-06 428 Highly brain-specific
11 rs10833478 NELL1 Motor * 3.41E-07 433 Brain and kidney specific, interacts with neural EGFL Shen et al., 2016 [57]
14 rs7155811 TMEM260 Motor * 2.17E-06 433 Implicated in pediatric neural development Ta-Shma et al., 2017 [58]
3 rs7611656 TRANK1* Adaptive lambda 3.36E-06 428 High endometrial expression, bipolar candidate Chen et al., 2013 [59], Ruderfer et al., 2014 [60]
14 rs11628108 C14orf177 Social-Emotional * 1.56E-06 433 Testis expression, linked to late onset Alzheimer's Kunkle et al., 2016 [61]
14 rs12434723 C14orf177 Social-Emotional * 2.61E-06 433 Testis expression, linked to late onset Alzheimer's Kunkle et al., 2016 [61]

Features of a collection of the genes linked to 22 SNPs that we have tied to the neurological traits, having p-values < 5x10-6 and either: high brain levels of expression or specificity of expression, or published phenotypic effects related to neurological functions in human studies. The notation (M) in the N column indicates that the dependency was determined for male subjects only. TRANK1, marked with an asterisk, falls just below the p-value threshold so does not appear in Table 4.