Prevalence and genetic variants of G6PD deficiency among two Malagasy populations living in Plasmodium vivax-endemic areas

Table 2 G6PD single nucleotide polymorphisms (SNPs) identified by Illumina sequencing

X Chromosome: nucleotide coordinate^a	Ref SNP identifier^b	Gene position	Coding DNA position^c	Nucleotide Variation (Ref/Alt)	Minor allele frequency^d	Codon number and variation
X:154546029		Intron 2		T/G	G = 0.021
X:154536313	rs762515	Intron 2		T/C	C = 0.221
X:154536002	rs1050828	Exon 4	202	C/T	T = 0.179	68 V/M^e
X:154535277	rs1050829	Exon 5	376	T/C	C = 0.211	126 N/D^f
X:154534699	rs73638302	Intron 5		G/A	A = 0.011
X:154534556	rs2515904	Intron 5		G/C	C = 0.179
X:154534419	rs5030868	Exon 6	563	G/A	A = 0.010	188S/F^g
X:154533860	rs2515905	Intron 7		G/A	A = 0.179
X:154533413	rs5986990	Intron 8		G/A	A = 0.210	372Q/Q
X:154532738	rs2230036	Exon 10	1116	C/T	A = 0.210	437Y/Y
X:154532439	rs2230037	Exon 11	1311	G/A	A = 0.242
X:154532293	rs2071429	Intron 11		A/G	G = 0.495
X:154532214	rs77214077	Exon 12	1431	G/A	A = 0.010	477P/P
X:154531643	rs1050757	3′ UTR		T/C	C = 0.389
X:154530445	rs12393550	3′ UTR		G/A	A = 0.221
X:154530400	rs113098908	3′ UTR		G/A	A = 0.210

^aChromosomal coordinates from GRCh38.p2 assembly of the human genome (December 2014)
^bRefSNP accession ID (rs number) http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5030872
^cOriginally described cDNA positions are provided to facilitate comparisons across different manuscripts focused on G6PD polymorphisms
^dMinor allele frequency among the 95 samples evaluated by Illumina sequencing
^eAlso referenced as G6PD A- ^202A
^fAlso referenced as G6PD A ^376G
^gAlso referenced as G6PD Mediterranean ^563T

ISSN: 1475-2875