Association between CFL1gene polymorphisms and spina bifida risk in a California population

BMC Medical Genetics

Table 2 Characteristics of CFL1 SNP markers and allelic association analysis for spina bifida, non-Hispanic White vs. Hispanic White

dbSNP ID	Physical Location (NCBI Build 36.1)	Nucleotide Change	Location in Gene	SNP Function Prediction§	Observed Heterozygosity§§		HWE p value§§		Minor Allele Frequency (95% Confidence Interval)				Allelic Association P value
					NHW	HW	NHW	HW	NHW		HW		NHW	HW
									SB	control	SB	control
rs652021	10929142	T/C	intron 2	no known function	0.460	0.438	0.694	0.292	0.412 (0.341,0.487)	0.315 (0.265,0.369)	0.395 (0.337,0.456)	0.446 (0.383,0.512)	0.054	0.293
rs4621	10929314	A/G	exon 2	splicing regulation (protein domain abolished)	0.453	0.432	0.784	0.248	0.406 (0.325,0.481)	0.309 (0.260,0.363)	0.398 (0.339,0.459)	0.446 (0.381,0.512)	0.061	0.334
rs11227332	10929534	A/G	intron 1	intronic enhancer	0.279	0.175	1.000	0.627	0.253 (0.192, 0.326)	0.163 (0.123,0.213)	0.169 (0.128,0.221)	0.107 (0.072,0.156)	0.042	0.057
rs665306	10929820	C/T	intron 1	intronic enhancer	0.459	0.423	0.724	0.184	0.399 (0.328, 0.474)	0.324 (0.274,0.380)	0.394 (0.336,0.455)	0.441 (0.378,0.507)	0.106	0.339
rs667555	10930357	G/T	intron 1	intronic enhancer	0.466	0.435	0.540	0.332	0.386 (0.315, 0.461)	0.321 (0.266,0.372)	0.391 (0.333,0.453)	0.425 (0.361,0.492)	0.161	0.509

§: SNP function prediction performed using FASTSNP (Functional Analysis and Selection Tool for SNP in Large Scale Association Study); §§: Computed in control group
NHW: non-Hispanic white; HW: Hispanic white; HWE: Hardy-Weinberg Equilibrium; SB: spina bifida;

ISSN: 1471-2350