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. 2023 Sep 7;110(10):1718–1734. doi: 10.1016/j.ajhg.2023.08.009

Table 1.

High-confidence missense variants for blood pressure association signals (PP > 0.95)

Signal ID Index SNV Missense variant Canonical transcript Annotation Chr Position PolyPhen SIFT Trait p value Posterior probability (%)
1_6 rs262695 rs262695 ENST00000545087.1 AL590822.1 p.Cys78Arg 1 2,144,788 N/A N/A SBP 9.40 × 10−14 96.2
108_1 rs1047891 rs1047891 ENST00000430249.2 CPS1 p.Thr1412Asn 2 211,540,507 benign tolerated SBP 1.40 × 10−14 98.5
DBP 8.20 × 10−14 99.5
132_2 rs74951356 rs74951356a ENST00000418109.1 LAMB2 p.Ala1765Thr 3 49,158,763 benign tolerated DBP 5.00 × 10−09 95.8
158_3 rs61762319 rs61762319a ENST00000460393.1 MME p.Met8Val 3 154,801,978 benign deleterious SBP 1.50 × 10−09 99.8
170_6 rs2498323 rs2498323 ENST00000382774.3 HGFAC p.Arg644Gln 4 3,451,109 possibly damaging tolerated PP 7.40 × 10−13 100
191_3 rs13107325 rs13107325 ENST00000394833.2 SLC39A8 p.Ala391Thr 4 103,188,709 possibly damaging tolerated SBP 4.20 × 10−53 100
221_1 rs2307111 rs2307111 ENST00000428202.2 POC5 p.His36Arg 5 75,003,678 benign tolerated DBP 1.60 × 10−22 97.6
237_7 rs1800888 rs1800888a ENST00000305988.4 ADRB2 p.Thr164Ile 5 148,206,885 benign tolerated DBP 7.40 × 10−13 100
249_1 rs1800730 rs1800730 ENST00000357618.5 HFE p.Ser65Cys 6 26,091,185 probably damaging deleterious SBP 2.00 × 10−09 96.4
249_3 rs1800562 rs1800562a ENST00000357618.5 HFE p.Cys282Tyr 6 26,093,141 probably damaging deleterious DBP 2.10 × 10−37 96.4
251_7 rs41543814 rs41543814 ENST00000376228.5 HLA-C p.Ala97Thr 6 31,239,430 benign tolerated (LC) DBP 1.50 × 10−19 100
251_10 rs2844573 rs2308655 ENST00000412585.2 HLA-B p.Cys349Ser 6 31,322,303 benign tolerated (LC) PP 1.40 × 10−12 99.2
252_1 rs3176336 rs2395655 ENST00000448526.2 CDKN1A p.Asp28Gly 6 36,645,696 benign tolerated (LC) PP 4.70 × 10−13 98.5
255_1 rs78648104 rs78648104 ENST00000008391.3 TFAP2D p.Phe74Leu 6 50,683,009 benign tolerated SBP 2.40 × 10−15 99.9
272_1 rs6919947 rs6919947 ENST00000368357.3 NCOA7 p.Ser399Ala 6 126,210,395 benign tolerated (LC) SBP 4.90 × 10−17 100
300_3 rs2854746 rs2854746 ENST00000381083.4 IGFBP3 p.Ala32Gly 7 45,960,645 benign tolerated DBP 5.00 × 10−11 97.9
313_2 rs11556924 rs11556924 ENST00000358303.4 ZC3HC1 p.Arg363His 7 129,663,496 probably damaging deleterious DBP 1.50 × 10−26 98.3
365_2 rs76452347 rs76452347 ENST00000354323.2 HRCT1 p.Arg63Trp 9 35,906,471 possibly damaging deleterious (LC) SBP 7.10 × 10−14 100
379_2 rs6271 rs6271a,b ENST00000393056.2 DBH p.Arg549Cys 9 136,522,274 possibly damaging tolerated SBP 1.20 × 10−19 97.6
394_1 rs2236295 rs2236295 ENST00000373783.1 ADO p.Gly25Trp 10 64,564,892 possibly damaging tolerated SBP 2.80 × 10−22 96.7
402_3 rs2274224 rs2274224b ENST00000371380.3 PLCE1 p.Arg1575Pro 10 96,039,597 benign tolerated SBP 9.00 × 10−57 96.6
417_10 rs10770059 (SBP) rs415895 ENST00000318950.6 SWAP70 p.Gln505Glu 11 9,769,562 benign tolerated SBP 5.00 × 10−47 96.5
432_4 rs117874826 rs117874826a,b ENST00000540288.1 PLCB3 p.Glu564Ala 11 64,027,666 benign deleterious SBP 2.30 × 10−11 100
434_1 rs36027301 rs36027301 ENST00000265686.3 TCIRG1 p.Arg56Trp 11 67,809,268 probably damaging deleterious SBP 6.00 × 10−11 97.6
447_7 rs573455 rs573455 ENST00000278935.3 CEP164 p.Gln1119Arg 11 117,267,884 benign tolerated PP 8.70 × 10−34 100
463_15 rs1126930 rs1126930a ENST00000316299.5 PRKAG1 p.Thr98Ser 12 49,399,132 benign tolerated PP 4.60 × 10−14 95.6
499_1 rs17880989 rs17880989 ENST00000311852.6 MMP14 p.Met355Ile 14 23,313,633 benign deleterious DBP 3.20 × 10−12 100
572_1 rs704 rs704 ENST00000226218.4 VTN p.Thr400Met 17 26,694,861 benign tolerated SBP 1.90 × 10−08 96.5
582_6 rs34587622 rs34587622 ENST00000427177.1 SEPT9 p.Pro145Leu 17 75,398,498 benign tolerated (LC) SBP 6.20 × 10−14 99.9
606_9 rs167479 rs167479 ENST00000393423.3 RGL3 p.Pro162His 19 11,526,765 probably damaging deleterious SBP 8.70 × 10−69 100
610_2 rs45522544 rs45522544 ENST00000357324.6 ATP13A1 p.Glu556Lys 19 19,765,499 benign tolerated DBP 3.10 × 10−08 100
616_4 rs34093919 rs34093919 ENST00000308370.7 LTBP4 p.Asp752Asn 19 41,117,300 possibly damaging deleterious PP 2.80 × 10−14 97.4
616_7 rs1800470 rs1800470 ENST00000221930.5 TGFB1 p.Pro10Leu 19 41,858,921 N/A tolerated (LC) PP 1.90 × 10−15 99
617_2 rs7412 rs7412 ENST00000252486.4 APOE p.Arg176Cys 19 45,412,079 probably damaging deleterious SBP 2.00 × 10−14 100
623_3 rs35761929 rs35761929 ENST00000254958.5 JAG1 p.Pro871Arg 20 10,622,501 benign deleterious DBP 2.60 × 10−18 99.1
636_1 rs2229742 rs2229742 ENST00000400202.1 NRIP1 p.Arg448Gly 21 16,339,172 probably damaging deleterious SBP 7.40 × 10−16 100
PP 2.30 × 10−11 99.7

SNV, single-nucleotide variant; Chr, chromosome; SIFT, sorting intolerant from tolerant algorithm, which predicts the effect of coding variants on protein function; PolyPhen, polymorphism phenotyping tool predicts possible impact of an amino acid substitution on the structure and function of a human protein; posterior probability, the SNV’s accounted posterior probability of driving the blood pressure association under the annotation-informed prior.

a

Indicates a low frequency variant (our data and in non-Finnish Europeans, https://gnomad.broadinstitute.org).

b

Indicates supporting evidence for this gene from exome and EAWASs.12,45,46,47