Determination of regulatory motifs and pathogenicity of intronic variants of GNPTAB, GNPTG, and NAGPA genes in individuals with stuttering

Bulletin of the National Research Centre

Table 2 Pathogenicity prediction of the variants using Reg-SNP Intron tool

Chr	Position (hg19)	Gene	Reference allele	Alternate allele	rsID	Probability score	Pathogenicity	N (%)
chr12	102144328	GNPTAB	T	C	rs11110995	0.71	Damaging	30 (37.9%)
chr12	102182824	GNPTAB	T	C	rs11830792	0.56	Possibly Damaging	21 (26.5%)
chr16	5082289	NAGPA	A	T	rs1001171	0.56	Possibly Damaging	47 (59.4%)

Off splicing site probability score: 0.0–0.56 (benign); 0.56–0.61 (possibly damaging); 0.61–1.0 (damaging); chr–chromosome