No evidence for association between SLC11A1and visceral leishmaniasis in India

BMC Medical Genetics

Table 2 Details of polymorphisms genotyped and the minor allele frequency (MAF) of variants in the Indian study population.

Common Designation	Location	Amino Acid Change	SNP Identity	Physical Position¹(bp)	Alleles²	MAF
GTn	5'UTR		rs34448891	218954900	118/120⁴	0.190
-237C/T	5'UTR		rs7573065	218954951	C/T	0.068
274C/T³	Exon 3	F66F	rs2276631	218957257	G/A	0.141
469 + 14G/C³	Intron 4		rs3731865	218958247	C/G	0.142
823 C/T³	Exon 8	G249G	rs17221959	218960874	C/T	0.193
1465-85G/A³	Intron 13		rs2279015	218967514	C/T	0.323
D543N G/A³	Exon 15	D543N	rs17235409	218967976	G/A	0.073
1729 + 55del4³ (TGTG)	3'UTR		rs17235416	218968058	IN/DEL	0.067
1729 + 263del4³ (CAAA)	3'UTR		rs17229009	218968275	DEL/IN	0.287

¹ Physical positions of markers are given according to Build 36.3 of the human genome; ²Major > minor alleles for this Indian population; ³bp positions of variants relative to an arbitrary site 76bp upstream [33] of the methionine start codon; ⁴allele 3/allele 2 (alleles 1 and 4 were rare or absent from this population).

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