Table 2.

Confirmed Candidate cSNPs

Gene MRNA Substitution Amino acid Codon[i] Library[ii] Freq.[iii] References[iv]
 1 AACT K01500 GCT → ACTA → T9M Poller et al. (1993)
 2 AGT K02215 ACG → ATGT → M207S0.92 Jeunemaitre et al. (1992)
 3 AGT K02215 ATG → ACGM → T268S0.64 Jeunemaitre et al. (1992)
 4 AHSG M16961 ACG → ATGT → M248M0.67 Osawa et al. (1997)
 5 AHSG M16961 ACC → AGCT → S256M0.67Osawa et al. /1997)
 6 APOA1 M11791 AAG → ATGK → M131S>0.99 von Eckardstein et al. (1990)
 7 APOH S80305 GTA → TTAV → L266S0.76 Steinkasserer et al. (1993)
 8 C1NH M13690 GTG → ATGV → M480M Bock et al. (1986)
 9 COMT M65212 GTG → ATGV → M158M0.82 Li et al. (1997)
10 GC M12654 ACG → AAGT → K436S0.74 Braun et al. (1992)
11 GLO1 S83285 GAG → GCGE → A111M Ridderstrom and Mannervik (1996)
12 IGFBP1 X15002 ATA → ATGI → M113M0.60 Luthman et al. (1989)
13 MTH1 D16581 GTG → ATGV → M83S−0.92 Wu et al. (1995)
14 PCMT1 D25545 ATA → GTAI → V120S0.77 Tsai and Clarke (1994)
15 RPL10 M73791 AGT → AATS → N202M P27635
16 SFTPC J03553 AAT → ACTN → T138S P11686
17 SOD2 X59445 GCT → GTTA → V16M0.50 Rosenblum et al. (1996)
18 TCF6L1 M62810 AGT → ACTS → T12M Q00059 [v]
19 FDFT1 S76822 AGG → AAGR → K45M P37268 [v]
20 LGALS3 M36682 CAT → CCTH → P64M P17931 [v]
21 LGALS3 M36682 CCC → ACCP → T98M P17931 [v]

[i] From the start codon.

[ii] Multiple (M) or single (S) library confirmation.

[iii] Frequency of the most frequent allele.

[iv] Swiss Prot accession number (http://www.expasy.ch/sprot) or reference reporting cSNP.

[v] cSNPs listed as conflicts of unknown origin in the Swiss Prot database.