Table X.

Recent Sequencing Studies Linking Multiple Rare Variations to a Phenotype or Disease

Reference	Gene	Phenotype	Results
37 Nejentsev et al. (2009)	IFIH1	Type 1 Diabetes	Multiple rare cSNPs are more frequent in T1D
38 Marini et al. (2008)	MTHFR	Folate response	Multiple coding SNP effects are folate remedial
39 Ji et al. (2008)	Salt handling genes	Blood Pressure	Multiple coding SNPs for individuals with low BP
40 Azzopardi et al. (2008)	APC	Colorectal cancer	Multiple variations among colorectal cancer
41 Masson et al. (2008)	CTRC	Pancreatitis	Multiple variations among pancreatitis patients
42 Ma et al. (2007)	Toll-like receptors	Tuberculosis (TB)	Multiple coding variations influence TB
43 Ahituv et al. (2007)	58 different genes	Obesity	Multiple variations among obese patients
44 Romeo et al. (2007)	ANGPTL4	Elevated HDL	Multiple variations among high HDL patients
45 Kotowski et al. (2006)	PCSK9	Low LDL	Frequent nonsense mutations among low LDL
46 Cohen et al. (2005)	PCSK9	Heart disease	Multiple sequence variations among HD patients
47 Cohen et al. (2006)	NPC1L1	Low LDL	Multiple rare variants among low LDL patients
48 Cohen et al. (2005)	PCSK9	Low LDL	Frequent nonsense mutations among low LDL
49 Cohen et al. (2004)	ABCA1,APOA1, LCAT	Low plasma HDL	Coding SNPs differences for low HDL patients