ALS2
|
rs3219156 |
0.185 +/- 0.240 |
missense |
0.1642 |
-0.558111591 |
Amyotrophic lateral sclerosis/parkinsonism-dementia complex |
Tomiyama et al.,2008Tomiyama H, Kokubo Y, Sasaki R, Li Y, Imamichi Y, Funayama M, Mizuno Y, Hattori N and Kuzuhara S (2008) Mutation analyses in amyotrophic lateral sclerosis/parkinsonism-dementia complex of the Kii peninsula, Japan. Mov Disord 23:2344-2348.
|
NO |
ALS2
|
rs3219168 |
0.158 +/- 0.233 |
synonymous |
0.1191 |
-0.093457107 |
Amyotrophic lateral sclerosis |
Kress et al.,2005Kress JA, Kühnlein P, Winter P, Ludolph AC, Kassubek J, Müller U and Sperfeld AD (2005) Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis. Ann Neurol 58:800-803.
|
NO |
ANK2
|
rs33966911 |
0.104 +/- 0.203 |
synonymous |
0.1239 |
-0.750076422 |
NA |
NA |
NO |
ANKRD11
|
rs72821356 |
0.058 +/- 0.160 |
synonymous |
0.0255 |
-0.931794107 |
KBG syndrome (OMIM 611192) |
NA |
NO |
ANKRD11
|
rs60520302 |
0.072 +/- 0.176 |
missense |
0.0019 |
-0.931794107 |
KBG syndrome (OMIM 611192) |
NA |
NO |
APOL2
|
rs118097350 |
0.006 +/- 0.054 |
missense |
0.0005 |
0.301905912 |
NA |
NA |
NO |
BCL11A
|
rs7569946 |
0.282 +/- 0.248 |
synonymous |
0.0742 |
-0.928248907 |
Fetal Hemoglobin Level |
Bauer et al.,2013Bauer DE, Kamran SC, Lessard S, Xu J, Fujiwara Y, Lin C, Shao Z, Canver MC, Smith EC, Pinello L, et al. (2013) An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level. Science 342:253-257.
|
NO |
CACNA2D3
|
rs17054785 |
0.181 +/- 0.240 |
synonymous |
0.0766 |
-0.12464999 |
NA |
NA |
NO |
CCDC108
|
rs13403802 |
0.028 +/- 0.115 |
missense |
0.0467 |
-0.365570142 |
NA |
NA |
NO |
CHD1
|
rs161941 |
0.417 +/- 0.186 |
Synonymous |
0.3542 |
-0.774153927 |
NA |
NA |
NO |
CHI3L1
|
rs140857184 |
0.013 +/- 0.080 |
missense |
0.0346 |
-0.860993564 |
NA |
NA |
NO |
CHL1
|
rs116261368 |
0.028 +/- 0.115 |
missense |
0.0409 |
-0.478853152 |
NA |
NA |
NO |
CHL1
|
rs2272522 |
0.428 +- /0.175 |
missense |
0.133 |
-0.478853152 |
Schizophrenia |
Shaltout et al.,2013Shaltout TE, Alali KA, Bushra S, Alkaseri AM, Jose ED, Al-Khainji M, Saleh R, Salama Dahir A, Shaltout H, Al-Abdullah M, et al. (2013) Significant association of close homologue of L1 gene polymorphism rs2272522 with schizophrenia in Qatar. Asia-Pacific Psychiatry 5:17-23.
|
NO |
CTNS
|
rs161400 |
0.269 +/- 0.249 |
missense |
0.6469 |
0.188849119 |
Nephropatic cystinosis |
Shahkarami et al.,2013Shahkarami S, Galehdari H, Ahmadzadeh A, Babaahmadi M and Pedram M. (2013) The first molecular genetics analysis of individuals suffering from nephropatic cystinosis in the Southwestern Iran. Nefrologia 33:308-315.
|
NO |
CTNS
|
rs77453839 |
0.130 +/- 0.219 |
synonymous |
0.2947 |
0.383526916 |
Nephropatic cystinosis |
Shahkarami et al.,2013Shahkarami S, Galehdari H, Ahmadzadeh A, Babaahmadi M and Pedram M. (2013) The first molecular genetics analysis of individuals suffering from nephropatic cystinosis in the Southwestern Iran. Nefrologia 33:308-315.
|
NO |
DBH
|
rs1108580 |
0.490 +/- 0.069 |
synonymous |
0.2628 |
0.111473168 |
Schizophrenia, TDAH, cocaine dependence, fetal growth, bipolar disorder |
Shaltout et al.,2013Shaltout TE, Alali KA, Bushra S, Alkaseri AM, Jose ED, Al-Khainji M, Saleh R, Salama Dahir A, Shaltout H, Al-Abdullah M, et al. (2013) Significant association of close homologue of L1 gene polymorphism rs2272522 with schizophrenia in Qatar. Asia-Pacific Psychiatry 5:17-23.
|
NO |
DISC1
|
rs55795950 |
0.004 +/- 0.042 |
missense |
0.0094 |
-0.209468866 |
Schizophrenia |
Khan et al.,2013Khan ZA, Chhabra H and Mohan C (2013) Computational analysis of the coding single nucleotide polymorphisms of disrupted in schizophrenia 1 (DISC 1) gene. World J Med Sci 8:28-35.
|
NO |
DRD5
|
rs184288806 |
0.002 +/- 0.032 |
synonymous |
NA |
NA |
NA |
NA |
NO |
EEF1A2
|
rs310617 |
0.483 +/- 0.090 |
synonymous |
0.0102 |
0.516242391 |
Mental retardation, Epilectic encephalopathy (OMIM 602959) |
NA |
YES |
EIF4EBP2
|
rs3750767 |
0.029 +/- 0.117 |
synonymous |
0.0332 |
-0.133346514 |
NA |
NA |
NO |
GPR153
|
rs140518856 |
0.005 +/- 0.049 |
synonymous |
NA |
NA |
NA |
NA |
NO |
GRM5
|
rs2306153 |
0.091 +/- 0.193 |
synonymous |
0.0516 |
-0.65655565 |
NA |
NA |
NO |
HOXB8
|
rs45441492 |
0.114 +/- 0.210 |
synonymous |
0.1385 |
-0.957471816 |
NA |
NA |
NO |
HRAS
|
rs12628 |
0.418 +/- 0.185 |
synonymous |
0.0217 |
-0.20012551 |
Costello syndrome |
Gripp et al.,2011Gripp KW, Stabley DL, Geller PL, Hopkins E, Stevenson DA, Carey JC and Sol-Church K (2011) Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome. Am J Med Genet Part A 155:2263-2268.
|
NO |
HTT
|
rs363125 |
0.307 +/- 0.243 |
missense |
0.3302 |
-0.83813619 |
Huntington disease (OMIM 613004) |
Kay et al.,2014Kay C, Skotte NH, Southwell AL and Hayden MR (2014) Personalized gene silencing therapeutics for Huntington disease. Clin Genet 86:29-36.
|
NO |
HTT
|
rs362331 |
0.493 +/- 0.058 |
missense |
0.0336 |
-0.718349527 |
Huntington disease (OMIM 613004) |
Lombardi et al.,2009Lombardi MS, Jaspers L, Spronkmans C, Gellera C, Taroni F, Di Maria E, Donato SD and Kaemmerer WF (2009) A majority of Huntington’s disease patients may be treatable by individualized allele-specific RNA interference. Exp Neurol 217:312-319.
|
NO |
HTT
|
rs140124504 |
0.002 +/- 0.032 |
synonymous |
NA |
NA |
Huntington disease (OMIM 613004) |
NA |
NO |
HTT
|
rs138489139 |
0.002 +/- 0.035 |
synonymous |
NA |
NA |
Huntington disease (OMIM 613004) |
NA |
NO |
KDM6B
|
rs11078709 |
0.490 +/- 0.070 |
synonymous |
0.3901 |
-1.068036831 |
NA |
NA |
NO |
KLF12
|
rs77377545 |
0.019 +/- 0.096 |
synonymous |
0.026 |
-0.747818207 |
Panic disorder syndrome 1 (OMIM 167870) |
NA |
NO |
LRRK2
|
rs11176013 |
0.485 +/- 0.084 |
synonymous |
0.0246 |
0.777713125 |
Parkinson disease 8 (OMIM 609007) |
Mata et al.,2006Mata IF, Ross OA, Kachergus J, Huerta C, Ribacoba R, Moris G, Blazquez M, Guisasola LM, Salvador C, Martinez C, et al. (2006) LRRK2 mutations are a common cause of Parkinson’s disease in Spain. Eur J Neurol 13:391-394.
|
NO |
LRRTM1
|
rs6733871 |
0.465 +/- 0.128 |
missense |
0.1323 |
-1.03399393 |
Schizophrenia |
Ludwig et al.,2009Ludwig KU, Mattheisen M, Mühleisen TW, Roeske D, Schmäl C, Breuer R, Schulte-Körne G, Müller-Myhsok B, Nöthen MM, Hoffmann P, et al. (2009) Supporting evidence for LRRTM1 imprinting effects in schizophrenia. Mol Psychiatry 14:743-745.
|
NO |
MC4R
|
rs2229616 |
0.032 +/- 0.122 |
missense |
0.01 |
-1.339833048 |
Obesity |
Heid et al.,2008Heid IM, Vollmert C, Kronenberg F, Huth C, Ankerst DP, Luchner A, Hinney A, Brönner G, Wichmann HE, Illig T, et al. (2008) Association of the MC4R V103I polymorphism with the metabolic syndrome: The KORA Study. Obesity 16:369-376.
|
NO |
MKKS
|
rs17852625 |
0.310 +/- 0.243 |
synonymous |
0.0393 |
0.147132768 |
Obesity |
Rouskas et al.,2008Rouskas K, Paletas K, Kalogeridis A, Sarigianni M, Ioannidou-Papagiannaki E, Tsapas and Kouvatsi A (2008) Association between BBS6/MKKS gene polymorphisms, obesity and metabolic syndrome in the Greek population. Int J Obes 32:1618-1625.
|
NO |
MKKS
|
rs16991547 |
0.363 +/- 0.223 |
synonymous |
0.1067 |
0.147132768 |
NA |
NA |
NO |
NMUR2
|
rs4958532 |
0.215 +/- 0.248 |
missense |
0.1464 |
-0.701022375 |
NA |
NA |
NO |
OR4C46
|
rs11246606 |
0.363 +/- 0.223 |
missense |
-0.0025 |
-1.30558338 |
NA |
NA |
NO |
PAK7
|
rs55773719 |
0.013 +/- 0.081 |
synonymous |
0.0145 |
-0.339650099 |
NA |
NA |
NO |
PHF2
|
rs56134753 |
0.040 +/- 0.135 |
synonymous |
0.0199 |
-0.264535787 |
NA |
NA |
NO |
PLCL2
|
rs7653834 |
0.496 +/- 0.047 |
synonymous |
0.054 |
-0.63849307 |
NA |
NA |
NO |
PRODH
|
rs139903009 |
0.004 +/- 0.047 |
missense |
0.0005 |
0.292869235 |
Schizophrenia (OMIM 606810) |
NA |
NO |
PRODH
|
rs4819756 |
0.342 +/- 0.232 |
missense |
0.3182 |
0.309595729 |
Schizophrenia |
Kempf et al.,2008Kempf L, Nicodemus KK, Kolachana B, Vakkalanka R, Verchinski BA, Egan MF, Straub RE, Mattay VA, Callicott JH, Weinberger DR, et al. (2008) Functional polymorphisms in PRODH are associated with risk and protection for schizophrenia and fronto-striatal structure and function. PLoS Genet 4:e1000252.
Ota et al.,2014Ota VK, Bellucco FT, Gadelha A, Santoro ML, Noto C, Christofolini DM, Assunção IB, Yamada KM, Ribeiro-dos-Santos AK, Santos S, et al. (2014) PRODH polymorphisms, cortical volumes and thickness in schizophrenia. PLoS One 9:e87686.
|
NO |
PRODH
|
rs1808320 |
0.393 +/- 0.205 |
synonymous |
0.1409 |
0.369538366 |
Autism, Schizophrenia |
autismkb.cbi.pku.edu.cn; Prata et al.,2006Prata DP, Breen G, Munro J, Sinclair M, Osborne S, Li T, Kerwin R, St Clair D and Collier DA (2006) Bipolar 1 disorder is not associated with the RGS4, PRODH, COMT and GRK3 genes. Psychiatr Genet 16:229-230.
|
NO |
RGS12
|
rs80251844 |
0.088 +/- 0.191 |
missense |
0.1524 |
-0.829372734 |
NA |
NA |
NO |
RGS12
|
rs147416450 |
0.002 +/- 0.028 |
missense |
NA |
NA |
NA |
NA |
NO |
RIMS1
|
rs77121218 |
0.019 +/- 0.097 |
synonymous |
0.0092 |
-1.576071446 |
Cone-rod dystrophy (OMIM 606629) |
NA |
YES |
SCN9A
|
rs4369876 |
0.064 +/- 0.167 |
missense |
0.0735 |
-0.16967483 |
Basal Pain Sensitivity |
Duan et al.,2015Duan G, Guo S, Zhang Y, Ying Y, Huang P, Wang Q, Zhang L and Zhang X (2015) The effect of SCN9A variation on basal pain sensitivity in the general population: an experimental study in young women. J Pain 16:971-980.
|
NO |
SHANK1
|
rs3745521 |
0.405 +/- 0.196 |
missense |
0.2752 |
-0.048981111 |
Specifc language impairment (OMIM 606712); Mental retardation (OMIM 611097) |
NA |
NO |
TCF3
|
rs11882821 |
0.033 +/- 0.123 |
synonymous |
0.0467 |
-1.767706279 |
NA |
NA |
NO |
TEKT5
|
rs148185751 |
0.005 +/- 0.051 |
missense |
0.0005 |
0.183653042 |
NA |
NA |
NO |
THBS4
|
rs438042 |
0.490 +/- 0.069 |
synonymous |
0.0334 |
0.252034645 |
Alzheimer Disease |
Cagliani et al.,2013Cagliani R, Guerini FR, Rubio-Acero R, Baglio F, Forni D, Agliardi C, Griffanti L, Fumagalli M, Pozzoli U, Riva S, et al. (2013) Long-standing balancing selection in the THBS4 gene: Influence on sex-specific brain expression and gray matter volumes in Alzheimer disease. Hum Mutat 34:743-753.
|
NO |