Screening and Evaluation of Deleterious SNPs in APOE Gene of Alzheimer’s Disease

Table 2

Functional effect and estimated risk (FASTSNP).

SNP IDs	Alleles	Amino acid change	Possible effect	Risk score
rs41382345	A/T	E139V	Conservative change, splicing regulation	2-3
rs28931579	A/C	S314R	Conservative change, splicing regulation	2-3
rs28931578	G/A	R152Q	Nonconservative change, splicing regulation	3-4
rs28931577	G/A	A117T	Conservative change, splicing regulation	2-3
rs28931576	A/G	T60A	Conservative change, splicing regulation	2-3
rs11542041	C/A	R132S	Nonconservative change, splicing regulation	3-4
rs11542040	C/A	P102T	Nonconservative change, splicing regulation	3-4
rs11542035	G/A	R137H	Non conservative change	3-4
rs11542034	A/G	E150G	Nonconservative change, splicing regulation	3-4
rs11542032	G/A	E189K	Conservative change, splicing regulation	2-3
rs11542030	A/G	Q205R	Conservative change, splicing regulation	2-3
rs11542027	C/T	S215F	Conservative change	2-3
rs11083750	C/A	P102Q	Nonconservative change, splicing regulation	3-4
rs429358	T/C	L46P	Conservative change	2-3
rs7412	T/C	C130R	Nonconservative change, splicing regulation	3-4
rs11542029	C/T	R50C	NP
rs769455	C/G	P102R	NP
rs769452	C/T	R163C	NP
rs121918399	C/T	R43C	NP
rs121918398	A/G	R292H	NP
rs121918397	G/A	R163H	NP
rs121918395	C/T	R246C	NP
rs121918394	A/C	K164Q	NP
rs121918393	C/A	R154S	NP
rs121918392	G/A	E21K	NP

NP: No Prediction; nsSNPs which show high risk score are highlighted as bold.