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. 2013 Jan 31;8(1):e55734. doi: 10.1371/journal.pone.0055734

Table 1. Well conserved or coding variants in the linkage region on chromosome 4.

Variant Gene Family Effect rs-number PhastCons1 GERP1
Chr4:g.48545947T>C FRYL RUL070 Synonymous - 1.00 1.33
Chr4:g.54327036_54327037insATT LNX1 RUL070 3′ UTR 57366823 0.97 4.56
Chr4:g.57248742A>C AASDH RUL070 Synonymous 146114987 1.00 −0.43
Chr4:g.57261623G>A PPAT RUL070 Synonymous - 0.22 −5.98
Chr4:g.57797037G>T REST RUL079 Missense2 138787075 0.00 −3.56
1

Phastcons and GERP are both regional conservation algorithms ranging from 0 to 1 and −12.3 to 6.17 respectively (1 and 6.17 being most conserved).

2

Grantham = 45, PolyPhen prediction = Benign.