. 2017 Apr 20;8(4):125. doi: 10.3390/genes8040125

Table 1.

Type 1 diabetes (T1D) and vitamin D pathway associated single nucleotide polymorphisms (SNPs).

Acronym	Full Name	Protein Function	Chr	Position	SNP	locus	Gene Function	Amino Acid Change
VDR	vitamin D receptor	transcription factor transcriptional control of vitamin D target genes	12	12q13.11	rs7975232	intron 8		no
					rs10735810	exon 2	missense	Met → Thr
					rs1544410	intron 8		no
					rs731236	exon 9	synonymous	Ile → Ile
CYP2R1	vitamin D 25-hydroxylase	transforming photo- synthesized and dietary vitamin D into 25(OH)D₃	11	11p15.2	rs10741657	5′ near gene	2 kb mRNA transcript
CYP2R1	vitamin D 25-hydroxylase		11	11p15.2	rs12794714	exon 1	synonymous	Ser → Ser
CYP27B1	25(OH)D 1-α-hydroxylase	conversion of 25(OH)D₃ to 1,25(OH)₂D₃	12	12q14.1	rs10877012	5′ near gene	promoter (−1260)
CYP27B1	25(OH)D 1-α-hydroxylase	conversion of 25(OH)D₃ to 1,25(OH)₂D₃	12	12q14.1	rs4646536	intron 6	(+2838)	no
DBP or GC	vitamin D binding protein or group-specific component	transport of vitamin D metabolites	4	4q11.13	rs4588	exon 11	missense	Thr → Lys
DBP or GC	vitamin D binding protein or group-specific component	transport of vitamin D metabolites	4	4q11.13	rs7041		missense	Asp → Glu
CUBN	cubilin	endocytotic receptors capable to internalize vitamin D into the cells	10	10p12.33-p13	rs3740165		synonymous	Pro → Pro

rs7975232 (=ApaI), rs10735810 (=FokI), rs1544410 (=BsmI) and rs731236 (=TaqI).