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. 2011 Feb 4;183(11):1499–1509. doi: 10.1164/rccm.201006-0912OC

TABLE 2.

FUNCTIONAL SINGLE NUCLEOTIDE POLYMORPHISM ASSOCIATIONS WITHIN CANDIDATE GENES

dbSNP SNP Type Phenotype (%) Symbol Description Chr Start Position
rs32922832 exon15, 3′UTR 24.8 Mgat4a Mannoside acetylglucosaminyltransferase 4, isoenzyme A 1 37501401
rs31320021 intron 1 (YY1) 30.1 Rfwd2 Ring finger and WD repeat domain 2 1 161162457
rs32034023 Thr1123Met 25.9 Tnn Tenascin N 1 162015167
rs31343079 5′UTR (HES-1) 22.9 Cacybp Calcyclin binding protein 1 162133052
rs27124906 5′UTR (GAL4) 26.6 Arhgap15 Rho GTPase activating protein 15 2 43604344
rs27914711 variant 2 18.8 Cacnb4 Calcium channel, voltage-dependent, beta 4 subunit 2 52532101
rs6406107 5′UTR (ELK1) 18.9 Acvr1 Activin A receptor, type 1 2 58419239
rs27956803 Gln81Arg 25.1 Ccdc148 Coiled-coil domain containing 148 (BC062650) 2 58674108
rs51612205 5′UTR (NF-1) 17.4 Tgfbr3 Transforming growth factor, beta receptor III 5 107535589
rs4228631 Asp1Ala 11.1 Fancl Fanconi anemia, complementation group L 11 26287084
rs48672482 intron 1 (MTF-1) 28.3 Mycn V-myc myelocytomatosis viral related oncogene, neuroblastoma derived 12 12942899

dbSNP: single nucleotide polymorphism database identification number. SNP Type: expression SNP (eSNP) includes predicted transcription factor binding site that is lost by polymorphism in parenthesis, and nonsynonymous (cnSNP) includes amino acid substitution with location in gene between amino acid. Phenotype (%): percentage phenotype (mean survival time) difference explained by mice with either allele as a percentage of the difference of two most polar strains. Chr: chromosome location of gene. Start Position: first basepair location of gene.