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Table 1 Selected splice-site SNPs for functional studies

From: Identification of functional single nucleotide polymorphisms in the branchpoint site

Chromosome Position Position Gene name SNP ID Alleles SNP ± 10 nucleotides sequence Allele frequency
3 14187698 14187699 XPC rs2733532 A/G TCTGATTACT*A*ACCCTCGCCT A = 0.363 G = 0.637
9 130689507 130689508 PIP5KL1 rs13296170 A/C GGCCTCCCTC*A*CTCCCTGTCC A = 1 C = 0
10 96535124 96535125 CYP2C19 rs12769205 A/G TCTCCCTCCT*A*GTTTCGTTTC A = 0.670 G = 0.330
16 15835555 15835556 MYH11 rs75434223 A/C CGTGGGGCTC*A*CCCGCCTCCT A = 1 C = 0
19 45854507 45854508 KLC3 rs67785924 −/ACCTC CTTGCCCCTC*A*CCTCCCCTCC − = 0.079 ACCTC = 0.921