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. 2010 Feb 2;19(9):1805–1815. doi: 10.1093/hmg/ddq039

Table 2.

Associations for 80 MYH9 SNPs with biopsy-confirmed HIVAN and FSGS, recessive genetic model, unadjusted for ancestry

SNP (haplotype) Physical coordinateb Myh9 location Risk allelec Ref. allele Risk allele frequencya
 Combined HIVAN/FSGS association
Eur. Amer. Donors HapMap YRI AA case AA control OR P-value (FET)
rs6000268 35111626 Exon 1 T CA 0.00 0.18 0.16 0.15 0.9 (0.3–2.7) 1
rs2272827 35111514 Intron 1 G AA 0.94 0.91 0.95 0.92 2 (1.2–3.4) 0.008
rs9610498 35107685 Intron 1 GA A 0.44 0.98 0.96 0.87 3.3 (2–5.7) 2.8E−07d
rs5756168 35104758 Intron 1 C TA 0.10 0.11 0.12 0.08 3.9 (0.9–18.9) 0.03
rs5750254 35104395 Intron 1 A A 0.70 0.71 0.77 0.73 1.4 (1–1.9) 0.06
rs16996724 35102720 Intron 1 A G 0.94 0.93 0.93 0.92 1.1 (0.7–1.8) 0.74
rs1883273 35099631 Intron 1 G AA 0.31 0.59 0.69 0.55 2.2 (1.6–3.1) 9.0E−07
rs6000261 35095868 Intron 1 A A 1.00 0.98 0.98 0.98 1.2 (0.5–3.4) 0.83
rs6000259 35094192 Intron 1 GA C 1.00 0.84 0.89 0.89 1 (0.7–1.4) 0.85
rs16996701 35094078 Intron 1 G AA 1.00 0.75 0.86 0.81 1.4 (1–1.9) 0.08
rs16996698 35091282 Intron 1 TA C 1.00 0.99 1.00 0.99 1.6 (0.3–16) 0.73
rs136213 35089761 Intron 1 AA G 0.31 0.45 0.60 0.44 2.5 (1.7–3.5) 3.0E−07
rs136206 35085444 Intron 1 A GA 0.27 0.66 0.74 0.59 2.2 (1.6–3) 1.2E−06
rs11089788 35081047 Intron 1 CA A 0.49 0.58 0.59 0.57 1.2 (0.8–1.6) 0.37
rs6000254 35077529 Intron 1 GA A 1.00 0.98 1.00 0.98 8.8 (1.4–366.2) 0.008
rs6000251 35077352 Intron 1 A CA 0.00 0.06 0.15 0.10 4.7 (1.4–18) 0.005
rs739097 35076025 Intron 1 AA G 0.62 0.61 0.71 0.67 1.3 (0.8–2.2) 0.21
rs739096 35071686 Intron 2 GA C 0.39 0.97 0.98 0.87 6.3 (3.3–13.2) 2.6E−12
rs11913874 35067649 Intron 2 CA G 0.98 0.83 0.89 0.87 1.3 (0.9–1.9) 0.17
rs8135022 35062938 Intron 3 TA G 0.91 0.99 1.00 0.98 5.4 (1.3–47.4) 0.010
rs5995283 35060023 Intron 3 TA C 1.00 0.98 1.00 0.98 4.8 (1.2–42.6) 0.02
rs6000240 35057980 Intron 3 T C 1.00 0.93 0.96 0.93 1.9 (1.1–3.6) 0.02
rs8143119 35057497 Intron 3 GA T 0.38 0.76 0.88 0.72 3.6 (2.5–5.2) 5.6E−14
rs16996677 (F-1) 35057229 Intron 3 A GA 0.00 0.36 0.47 0.27 3.9 (2.5–6.1) 3.6E−10
rs16996674 (F-1) 35056598 Intron 3 T CA 0.00 0.33 0.43 0.24 4.1 (2.5–6.7) 4.0E−09
rs5756157 35053643 Intron 3 T GA 0.31 0.64 0.80 0.62 3 (2.2-4.2) 2.1E−12
rs8136336 35052480 Intron 5 AA G 1.00 0.94 0.98 0.97 1.7 (0.8–4.4) 0.22
rs12159211 35049109 Intron 5 GA A 0.96 0.98 0.99 0.97 4 (1.4–15.8) 0.003
rs2071731 35048804 Intron 5 GA A 0.67 0.78 0.83 0.75 1.7 (1.1–2.5) 0.009
rs8138583 35047578 Intron 7 TA C 1.00 0.98 0.99 0.97 4.2 (1.3–21.5) 0.01
rs5995281 35045783 Intron 9 A GA 0.00 0.16 0.12 0.10 1.3 (0.2–6.1) 0.72
rs1005570 35045220 Intron 10 A GA 0.08 0.51 0.68 0.43 3.8 (2.7–5.4) 2.6E−15
rs12167188 35044663 Intron 10 G AA 0.00 0.03 0.05 0.02 Inf. 0.28
rs8141189 35044656 Intron 10 AA T 0.00 0.36 0.44 0.27 3.8 (2.4–6.1) 3.2E−09
rs2239784 35044581 Intron 10 T CA 0.06 0.71 0.79 0.58 3.2 (2.3–4.4) 3.1E−13
rs1557539 35044035 Intron 11 GA C 1.00 0.98 0.98 0.97 2 (0.9–5.5) 0.11
rs9610489 35043477 Intron 11 C TA 0.20 0.13 0.19 0.18 1.4 (0.6–3) 0.44
rs1557538 35042909 Intron 11 A GA 0.29 0.67 0.77 0.64 2.2 (1.6–3) 1.1E−06
rs1557536 35042756 Intron 11 CA G 0.29 0.73 0.81 0.68 2.2 (1.6–3) 7.3E−07
rs5756152 35042418 Intron 12 A GA 0.03 0.41 0.50 0.27 4.9 (3.1–7.8) 3.2E−13
rs4821484 35040465 Intron 12 CA A 0.31 0.90 0.74 3.9 (2.7–5.8) 2.2E−14
rs3752462 (E-1) 35040129 Intron 13 T CA 0.31 0.83 0.89 0.72 3.8 (2.7–5.7) 4.0E−15
rs3830104 35038570 Intron 13 TA C 0.94 0.98 0.98 0.97 1.9 (0.8–5.2) 0.15
rs5750250 (S-1) 35038429 Intron 13 G AA 0.04 0.68 0.82 0.52 5.7 (4–8) 9.0E−27
rs2157257 35038284 Intron 13 AA G 0.31 0.86 0.91 0.76 3.6 (2.4–5.3) 1.4E−12
rs7285745e 35038142 Exon 14 GA A 1.00 0.98 0.99 0.97 2.5 (1–7.3) 0.04
rs2413396 (S-1)f 35038030 Intron 14 C TA 0.08 0.71 0.82 0.54 5.8 (4.1–8.2) 4.4E−27
rs3842715 35038003 Intron 14 Insg Del 0.79 0.97 0.92 2.6 (1.4–5) 0.0008
rs2157256 35037607 Intron 14 A GA 0.31 0.76 0.87 0.66 4.5 (3.1–6.4) 1.1E−19
rs1557529 35035475 Intron 14 A GA 0.03 0.54 0.60 0.36 4.1 (2.8–5.9) 5.1E−14
rs2239783 35035074 Intron 15 CA T 0.76 0.93 0.95 0.87 2.7 (1.7–4.5) 9.4E−06
rs5750248 (S-1) 35032838 Intron 15 T CA 0.04 0.70 0.83 0.56 5.1 (3.6–7.2) 5.8E−24
rs1009150 35032246 Intron 16 CA T 0.28 0.83 0.88 0.72 3.3 (2.3–4.8) 1.5E−12
rs8137674 35032048 Intron 16 A GA 1.00 0.98 0.99 0.97 3.4 (1.2–13.5) 0.01
rs17806513 35030332 Intron 18 GA A 0.99 0.91 0.94 0.90 1.8 (1.1–2.9) 0.01
rs9619601e 35030121 Exon 19 A GA 0.96 0.96 0.99 0.96 3.5 (1.4–11.4) 0.004
rs4821481 (E-1) 35025888 Intron 23 CA T 0.04 0.76 0.86 0.63 4.5 (3.2–6.5) 1.3E−20
rs2032487 (E-1) 35025374 Intron 23 CA T 0.04 0.76 0.86 0.64 4.2 (3–6) 1.8E−18
rs4821480f (E-1)f 35025193 Intron 23 GA T 0.04 0.76 0.89 0.67 4.9 (3.4–7.3) 2.2E−20
rs2187776 35025119 Intron 23 C TA 0.03 0.34 0.34 0.30 1.3 (0.7–2.1) 0.37
rs739101 35024279 Intron 24 GA A 0.30 0.86 0.91 0.76 3.5 (2.4–5.2) 4.9E−12
rs5756133 35023926 Intron 24 TA A 0.32 0.93 0.95 0.84 3.7 (2.3–6.1) 1.7E−09
rs9622373 35023618 Intron 24 CA T 1.00 0.97 0.98 0.94 3.9 (1.7–10.1) 0.0002
rs16996648 35022698 Intron 25 C TA 0.01 0.41 0.50 0.28 4.2 (2.7–6.6) 5.5E−11
rs875725e 35021637 Exon 26 TA C 0.99 0.91 0.95 0.92 1.9 (1.2–3.3) 0.009
rs710181e 35021553 Exon 26 A CA 0.03 0.03 0.03 0.02 Inf. 0.28
rs6000233 35017908 Intron 31 C TA 0.01 0.36 0.37 0.37 1 (0.6–1.6) 0.91
rs1476009 35016002 Intron 31 GA A 0.97 0.96 0.96 0.96 1 (0.6–2) 1
rs11549907 35014926 Exon 33 G A 0.99 0.95 0.93 1.6 (1–2.8) 0.08
rs11912763 (F-1) 35014668 Intron 33 A GA 0.00 0.23 0.45 0.20 7.9 (4.5–14.3) 3.3E−15
rs2269529h 35014300 Exon 34 A G 0.80 0.96 0.98 0.92 4.7 (2.2–11.4) 2.1E−06
rs5756130e 35014277 Exon 34 C T 0.98 0.87 0.94 0.88 2.1 (1.4–3.4) 0.0005
rs5756129 (L-1) 35014038 Intron 34 T C 0.78 0.83 0.91 0.80 2.8 (1.9–4.2) 4.0E−08
rs2071733 35010771 Intron 38 GA C 0.66 0.88 0.97 0.87 4.3 (2.4–8.2) 1.7E−08
rs2071732 35010660 Intron 38 CA T 0.96 0.94 0.99 0.97 3.7 (1.3–14.3) 0.007
rs735853 (L-1) 35009161 Intron 40 C G 0.52 0.97 0.99 0.88 12.4 (5.1–39.5) 1.1E−14
rs735854 35009004 Intron 40 T C 0.33 0.93 0.94 0.79 4.9 (3.1–7.9) 1.3E−15
rs12107 (L-1) 35007928 Exon 41 3′-UTR GA A 0.85 0.95 0.96 0.90 3.2 (1.8–5.8) 3.7E−06
rs7078 (L-1) 35007860 Exon 41 3′-UTR TA C 0.73 0.93 0.85 2.5 (1.6–4) 5.2E−06

aAllele frequencies from 221 European American normal blood donors and from the HapMap Yoruba from Nigeria (YRI) (10); bGenome Build 36.3; csuperscript A indicates ancestral allele as indicated in NCBI dbSNP; dbold indicates P< 0.001; eSynonymous change; fSplice motif change (predicted); g-/TCCTGTGA; h1626 Ile > Val.