Table 2.

Functional effect of nsSNPs by F-SNP database

Functional category	Prediction tools	Prediction results of SNPs
		rs1052576 FS score: 0.774	rs1052574 FS score: 0.789	rs2308939 FS score: 0.977	rs1820204 FS score: 0.888	rs2020897 FS score: 0.916
Protein coding	PolyPhen	Benign	Damaging	Damaging	Damaging	Benign
	SIFT	Tolerated	Damaging	Tolerated	Tolerated	Damaging
	SNP-effect	Deleterious	Deleterious	Deleterious	No entry	Benign
	LS-SNP	Benign	Deleterious	Benign	Benign	Benign
	SNPs3D	Benign	Deleterious	Deleterious	Benign	Deleterious
Splicing	ESEfinder	Changed	Changed	Changed	Changed	Changed
Regulation	ESRSearch	Not changed	Changed	Changed	Changed	Changed
	PESE	Not changed	Not changed	Changed	Changed	Changed
	RESCUE-ESE	Not changed	Not changed	Changed	Changed	Changed
Transcriptional regulation	Golden Path	Exist	Exist	Exist	Exist	Exist
Post-translation	OGPET	Exist	Not exist	Exist	Exist	Not exist
		rs2308938 FS score: 0.533	rs2308941 FS score: 0.749	rs9282624 FS score: 0.919	rs4646008 FS score: 0.774
Protein coding	PolyPhen	Benign	Damaging	Damaging	Damaging
	SIFT	Tolerated	Tolerated	Tolerated	Tolerated
	SNP-effect	Benign	Deleterious	Benign	Deleterious
	LS-SNP	Benign	Benign	Benign	Benign
	SNPs3D	Deleterious	Deleterious	Benign	No entry
Splicing regulation	ESEfinder	Not changed	Changed	Changed	Not changed
	ESRSearch	Changed	Changed	Changed	Changed
	PESE	Changed	Not changed	Changed	Not changed
	RESCUE-ESE	Changed	Not changed	Changed	Changed
Transcriptional regulation	Golden Path	Exist	Exist	Exist	Exist
Post-translation	OGPET	Not exist	Exist	Not exist	Exist

FS Functional significance