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Table 1 SNPs in the TTR gene and the surrounding regions with polymorphisms present in the analysed Swedish samples.

From: A possible role for miRNA silencing in disease phenotype variation in Swedish transthyretin V30M carriers

    Minor allele (frequency)
dsSNP ID Location NM_000371.3 (HGVS) Location Controls V30M Carriers P-valuea
rs3764478 c.-136-1247G > T 5'upstream T (0.09) T (0.07)  
rs71383038 c.-136-1097_-1096delCA 5'upstream CA9 (0.31) CA9 (0.17) 0.0034
rs72922940 c.-136-1032A > G 5'upstream G (0.07) G (0.05)  
rs3764477 c.-136-1021G > A 5'upstream A (0.00) A (0.01)  
rs58616646 c.-136-1000C > T 5'upstream T (0.00) T (0.01)  
* c.-136-697C > T 5'upstream T (0.03) T (0.01)  
rs3794885 c.-136-607A > T 5'upstream T (0.32) T (0.18) 0.0041
* c.-136-546G > A 5'upstream A (0.02) A (0.03)  
rs723744 c.70-383G > T intronic T (0.31) T (0.19)  
rs1800458 c.76G > A, p.G26R exon 2 A (0.04) A (0.02)  
rs28933979 c.148G > T, p.V50 M (V30M) exon 2 G (0.00) G (0.51)  
rs1080093 c.200+691C > G intronic G (0.31) G (0.20)  
rs1080094 c.200+806A > G intronic G (0.30) G (0.20)  
rs3764476 c.336+1242C > A intronic A (0.30) A (0.20)  
ENSSNP11324634 c.336+1432A > G intronic G (0.00) G (0.01)  
rs7235277 c.336+1655G > C intronic C (0.37) C (0.18)  
rs3794884 c.337-1560T > G intronic G (0.31) G (0.19)  
rs36204272 c.337-18G > C intronic C (0.00) C (0.01)  
rs62093482 c.*261C > T 3'UTR T (0.04) C (0.48) < 0.0001b
  1. SNPs with significant differences in allele frequencies between V30M carriers and controls are shown in bold. Previously not reported polymorphisms are marked with a star (*). a P-value ≤0.05 were considered statistical significant. P-value calculated by Fisher exact probability test. b P-value significant after Bonferroni correction (P-value ≤0.003).
  2. For sixteen SNPs only the wt allele were detected in the Swedish material, these are not included in the table: rs3794886, rs16962206, rs1551005, rs9304103, rs7231173, rs17740912, rs58272364, rs13381331, rs1791225, rs10707844, rs1667250, rs1791226, rs1791227, rs1667251, rs1061978, rs11541783.