PMID: 31049317

Genome-Wide Association Studies of Hypertension and Several Other Cardiovascular Diseases.

Pulse (Basel, Switzerland)
Y Wang, JG Wang
2019-04

222 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
13-113636156-C-T MCF2L c.79+12384C>T - IntronicSNV - 1/29
17-42060631-A-G PYY c.-462-16731T>C - intron_variant - 1/6
6-12903957-A-G PHACTR1 c.251-149640A>G - IntronicSNV - 4/14
1-10796866-T-C CASZ1 c.-77+23892A>G - intron_variant - 2/15
3-153839866-G-C ARHGEF26 c.85G>C p.Val29Leu Missense 2/15 -
10-104471975-T-A ARL3 c.3+2055A>T - IntronicSNV - 1/5
2-65283972-T-C CEP68 c.-47+310T>C - intron_variant - 1/6
1-11862778-A-G MTHFR c.236+160T>C - IntronicSNV - 2/11
1-113189053-G-A CAPZA1 c.40-779G>A - IntronicSNV - 1/9
15-69682916-A-G PAQR5 c.512+797A>G - IntronicSNV - 6/8
4-148427503-A-C EDNRA c.420+20250A>C - IntronicSNV - 2/5
15-91416550-C-G FURIN c.1-2421C>G - IntronicSNV - 1/15
15-91416550-C-A FURIN c.1-2421C>A - IntronicSNV - 1/15
6-43308363-C-T ZNF318 c.3496-123G>A - IntronicSNV - 9/9
2-46363336-A-G PRKCE c.1593-8896A>G - IntronicSNV - 11/14
12-90060586-G-A ATP2B1 c.1-10923C>T - IntergenicSNV - 1/20
19-7255701-A-G INSR c.652+11655T>C - IntronicSNV - 2/21
5-127868199-G-A FBN2 c.338-1813C>T - IntronicSNV - 2/64
3-49448566-A-T RHOA c.-3+687T>A - intron_variant - 1/4
2-216300482-T-A FN1 c.44A>T p.Gln15Leu Missense 1/44 -
11-89224453-A-C NOX4 c.1-39T>G - 5-UTRSNV 1/18 -
3-138122122-C-A MRAS c.*1011C>A - 3-UTRSNV 6/6 -
10-95895940-A-G PLCE1 c.1492+3724A>G - IntronicSNV - 3/32
6-151004770-G-C PLEKHG1 c.-99+32848G>C - intron_variant - 2/16
2-218668732-C-A TNS1 c.*450G>T - 3-UTRSNV 33/33 -
7-40447971-G-A SUGCT c.727-40915G>A - IntronicSNV - 9/14
6-26093141-G-A HFE c.845G>A p.Cys282Tyr Missense 4/6 -
14-53377540-T-C FERMT2 c.391+8301A>G - IntronicSNV - 3/14
14-53377540-T-G FERMT2 c.391+8301A>C - IntronicSNV - 3/14
20-19465907-G-A SLC24A3 c.272-30225G>A - IntronicSNV - 2/16
7-100458093-C-G SLC12A9 c.1218+239C>G - IntronicSNV - 9/13
6-32044851-C-T TNXB c.4375+1959G>A - IntronicSNV - 11/43
9-85993901-T-C FRMD3 c.253-6031A>G - IntronicSNV - 2/13
4-120509279-T-C PDE5A c.831+8399A>G - IntronicSNV - 3/20
17-73949045-C-T ACOX1 c.830+487G>A - IntronicSNV - 7/13
4-103188709-C-A SLC39A8 c.1171G>T p.Ala391Ser Missense 7/8 -
11-100593538-G-C ARHGAP42 c.154+34975G>C - IntronicSNV - 1/23
3-53635595-T-G CACNA1D c.484-49211T>G - IntronicSNV - 3/48
12-111884608-T-C SH2B3 c.784T>C p.Trp262Arg Missense 3/8 -
12-111884608-T-A SH2B3 c.784T>A p.Trp262Arg Missense 3/8 -
1-227252626-A-G CDC42BPA c.2661+4852T>C - IntronicSNV - 20/34
7-139463264-G-A HIPK2 c.19+14140C>T - intron_variant - 1/14
20-47411149-G-A PREX1 c.219+33030C>T - IntronicSNV - 1/39
4-169717148-C-A PALLD c.1964+84074C>A - IntronicSNV - 10/20
14-53377540-T-A FERMT2 c.391+8301A>T - IntronicSNV - 3/14
3-1152436-C-T CNTN6 c.-83+17623C>T - intron_variant - 1/22
15-75077367-C-A CSK c.-66+2306C>A - intron_variant - 1/12
1-6683240-G-A PHF13 c.*1543G>A - 3-UTRSNV 4/4 -
12-90081188-T-G ATP2B1 c.-222+21808A>C - intron_variant - 1/20
12-90081188-T-A ATP2B1 c.-222+21808A>T - intron_variant - 1/20
12-90081188-T-C ATP2B1 c.-222+21808A>G - intron_variant - 1/20
19-41854534-T-C TGFB1 c.356-174A>G - IntronicSNV - 1/6
1-38411445-G-A INPP5B c.135C>T p.His45His Synonymous 3/24 -
12-118265441-T-G KSR2 c.472+27792A>C - intron_variant - 3/19
19-40760449-A-G AKT2 c.287+616T>C - IntronicSNV - 4/13
12-111350655-A-G MYL2 c.402+245T>C - IntronicSNV - 6/6
1-15793913-G-A CELA2A c.672G>A p.Ala224Ala Synonymous 7/8 -
1-15793913-G-C CELA2A c.672G>C p.Ala224Ala Synonymous 7/8 -
6-35034800-G-C ANKS1A c.2184+6770G>C - IntronicSNV - 13/23
17-45013271-T-C GOSR2 c.*625T>C - 3-UTRSNV 5/5 -
19-40760449-A-T AKT2 c.287+616T>A - IntronicSNV - 4/13
8-10640065-C-G PINX1 c.472-16639G>C - IntronicSNV - 6/6
10-104471975-T-C ARL3 c.3+2055A>G - IntronicSNV - 1/5
19-41854534-T-A TGFB1 c.356-174A>T - IntronicSNV - 1/6
1-154395946-A-G IL6R c.86-5726A>G - IntronicSNV - 1/9
1-109818306-G-T CELSR2 c.*1635G>T - 3-UTRSNV 34/34 -
12-112241766-G-A ALDH2 c.1510G>A p.Glu504Lys Missense 12/13 -
11-9763969-C-T SWAP70 c.1355+2075C>T - IntronicSNV - 9/11
18-48142854-T-G MAPK4 c.1-47475T>G - IntronicSNV - 1/5
15-75077367-C-T CSK c.-66+2306C>T - intron_variant - 1/12
2-183274760-C-G PDE1A c.101+112243G>C - IntronicSNV - 2/14
2-180715706-T-A ZNF385B c.-155+10122A>T - intron_variant - 1/9
2-46363336-A-C PRKCE c.1593-8896A>C - IntronicSNV - 11/14
12-111884608-T-G SH2B3 c.784T>G p.Trp262Gly Missense 3/8 -
3-49448566-A-C RHOA c.-3+687T>G - intron_variant - 1/4
15-91437388-A-T FES c.2326+100A>T - IntronicSNV - 18/18
15-91437388-A-C FES c.2326+100A>C - IntronicSNV - 18/18
11-116648917-G-C ZPR1 c.*724C>G - IntergenicSNV 14/14 -
14-35871217-G-C NFKBIA c.*2C>G - 3-UTRSNV 6/6 -
14-35871217-G-A NFKBIA c.*2C>T - 3-UTRSNV 6/6 -
3-169100886-T-C MECOM c.38-1574A>G - IntronicSNV - 1/16
14-63928546-A-G PPP2R5E c.158-7943T>C - IntronicSNV - 2/13
5-122476457-G-C PRDM6 c.901-15121G>C - IntronicSNV - 3/7
5-122476457-G-A PRDM6 c.901-15121G>A - IntronicSNV - 3/7
2-180715706-T-C ZNF385B c.-155+10122A>G - intron_variant - 1/9
17-60767151-C-T MRC2 c.3573+30C>T - IntronicSNV - 24/29
9-127900996-T-C SCAI c.98+3916A>G - IntronicSNV - 2/18
15-79070000-C-T ADAMTS7 c.1323-70G>A - IntronicSNV - 8/23
14-35871217-G-T NFKBIA c.*2C>A - 3-UTRSNV 6/6 -
3-193362377-T-C OPA1 c.1608+483T>C - IntronicSNV - 16/30
4-111431444-G-A ENPEP c.1238G>A p.Trp413* Nonsense 6/20 -
1-115829178-C-T NGF c.239G>A p.Arg80Gln Missense 3/3 -
17-59013488-T-A BCAS3 c.1088-11092T>A - IntronicSNV - 13/23
11-9751196-G-C SWAP70 c.898+198G>C - IntronicSNV - 6/11
11-9751196-G-A SWAP70 c.898+198G>A - IntronicSNV - 6/11
1-217718789-C-T GPATCH2 c.1099-30558G>A - IntronicSNV - 5/9
17-1333598-T-C CRK c.777+6316A>G - IntronicSNV - 2/2
4-57838583-G-T NOA1 c.1515+731C>A - IntronicSNV - 3/6
6-118572486-T-A SLC35F1 c.478-15672T>A - IntronicSNV - 3/7
6-118572486-T-C SLC35F1 c.478-15672T>C - IntronicSNV - 3/7
1-16341649-C-T HSPB7 c.*426G>A - 3-UTRSNV 3/3 -
7-27220831-A-G HOXA11 c.*1584T>C - 3-UTRSNV 2/2 -
2-37517566-A-G PRKD3 c.559+445T>C - IntronicSNV - 3/17
6-161010118-A-G LPA c.3947+467T>C - IntronicSNV - 24/38
8-141060027-G-A TRAPPC9 c.2851-25851C>T - IntronicSNV - 17/22
3-128201889-C-T GATA2 c.1017+814G>A - IntronicSNV - 4/5
11-13303071-C-T ARNTL c.-263+3601C>T - intron_variant - 1/19
1-16341649-C-G HSPB7 c.*426G>C - 3-UTRSNV 3/3 -
17-61559625-A-G ACE c.1119-202A>G - IntronicSNV - 7/24
7-150690176-C-T NOS3 c.1-716C>T - IntronicSNV - 1/26
2-179786068-T-C CCDC141 c.898-2434A>G - IntronicSNV - 6/23
6-161123451-T-C PLG c.49+66T>C - IntronicSNV - 1/18
15-67455630-C-T SMAD3 c.207-1603C>T - IntronicSNV - 1/8
19-11526182-G-A RGL3 c.637+431C>T - IntronicSNV - 5/18
11-63680719-C-T RCOR2 c.892-300G>A - IntronicSNV - 8/11
16-69903165-C-T WWP2 c.576-2542C>T - IntronicSNV - 7/24
16-75331044-T-G CFDP1 c.810-3104A>C - IntronicSNV - 6/6
6-134213181-C-T TCF21 c.*241C>T - IntronicSNV 3/3 -
12-112007756-C-T ATXN2 c.252-14033G>A - intron_variant - 1/24
8-42324765-T-C SLC20A2 c.290-1330A>G - IntronicSNV - 2/10
16-4943019-T-A PPL c.1650+195A>T - IntronicSNV - 14/21
16-4943019-T-G PPL c.1650+195A>C - IntronicSNV - 14/21
17-46988597-C-T UBE2Z c.390+355C>T - IntronicSNV - 2/6
17-75317300-C-G SEPT9 c.22+870C>G - IntronicSNV - 1/10
17-75317300-C-T SEPT9 c.22+870C>T - IntronicSNV - 1/10
6-32050067-T-G TNXB c.3482A>C p.His1161Pro Missense 9/44 -
6-32050067-T-C TNXB c.3482A>G p.His1161Arg Missense 9/44 -
6-32050067-T-A TNXB c.3482A>T p.His1161Leu Missense 9/44 -
4-103188709-C-T SLC39A8 c.1171G>A p.Ala391Thr Missense 7/8 -
8-10758213-A-T XKR6 c.962-1787T>A - IntronicSNV - 2/2
1-56962821-A-G PLPP3 c.811-473T>C - IntronicSNV - 5/5
18-6282593-A-C L3MBTL4 c.128-18556T>G - IntronicSNV - 4/19
2-40567743-C-T SLC8A1 c.1808+87870G>A - IntronicSNV - 2/10
2-218668732-C-T TNS1 c.*450G>A - 3-UTRSNV 33/33 -
7-27159136-G-C HOXA3 c.-122C>G - splice_region_variant,5_prime_UTR_variant 1/3 -
7-27159136-G-A HOXA3 c.-122C>T - splice_region_variant,5_prime_UTR_variant 1/3 -
3-27457208-G-A SLC4A7 c.1632+2769C>T - IntronicSNV - 11/24
8-142375073-T-A GPR20 c.-25+2228A>T - intron_variant - 1/1
8-142375073-T-C GPR20 c.-25+2228A>G - intron_variant - 1/1
5-158220193-A-G EBF1 c.909+3160T>C - IntronicSNV - 9/15
10-91004886-A-G LIPA c.229+547T>C - IntronicSNV - 3/9
10-91004886-A-C LIPA c.229+547T>G - IntronicSNV - 3/9
7-131059056-G-A MKLN1 c.99-1127G>A - IntronicSNV - 1/17
1-172357441-G-T DNM3 c.2286-272G>T - IntronicSNV - 19/20
1-172357441-G-A DNM3 c.2286-272G>A - IntronicSNV - 19/20
1-172357441-G-C DNM3 c.2286-272G>C - IntronicSNV - 19/20
11-16302939-C-T SOX6 c.445+37053G>A - IntronicSNV - 3/15
11-16922654-G-A PLEKHA7 c.222-29925C>T - IntronicSNV - 3/22
8-10758213-A-G XKR6 c.962-1787T>C - IntronicSNV - 2/2
17-43208121-A-T PLCD3 c.163+1494T>A - IntronicSNV - 1/15
15-76295311-A-T NRG4 c.104+6230T>A - IntronicSNV - 3/5
16-81574197-T-C CMIP c.18+45098T>C - IntronicSNV - 1/20
3-41912651-G-T ULK4 c.1656+12715C>A - IntronicSNV - 17/36
3-41912651-G-A ULK4 c.1656+12715C>T - IntronicSNV - 17/36
12-121416988-A-G HNF1A c.326+91A>G - IntronicSNV - 1/9
17-59485393-C-T TBX2 c.1687-22C>T - IntronicSNV - 6/6
3-122117663-A-T FAM162A c.35-3944A>T - IntronicSNV - 1/4
6-31616366-G-A BAG6 c.552+88C>T - IntronicSNV - 6/24
7-129663496-C-A ZC3HC1 c.1088G>T p.Arg363Leu Missense 8/10 -
22-19988167-G-A ARVCF c.-19+9811C>T - intron_variant - 2/19
22-19988167-G-T ARVCF c.-19+9811C>A - intron_variant - 2/19
3-185317674-G-C SENP2 c.358+862G>C - IntronicSNV - 4/16
18-43097750-C-A SLC14A2 c.-35+34463C>A - intron_variant - 2/20
18-43097750-C-T SLC14A2 c.-35+34463C>T - intron_variant - 2/20
19-10334443-A-C S1PR2 c.*77T>G - 3-UTRSNV 2/2 -
16-70755610-G-A VAC14 c.1661+9788C>T - IntronicSNV - 14/18
11-117283676-T-C CEP164 c.*792T>C - 3-UTRSNV 33/33 -
20-8626271-C-A PLCB1 c.385-478C>A - IntronicSNV - 4/31
1-1254436-A-G INTS11 c.429+240T>C - IntronicSNV - 4/16
3-138122122-C-T MRAS c.*1011C>T - 3-UTRSNV 6/6 -
1-11906821-C-T NPPA c.450+349G>A - IntronicSNV - 2/2
6-51832494-C-T PKHD1 c.5752-7670G>A - IntronicSNV - 35/66
5-148391140-A-G SH3TC2 c.3204+1007T>C - IntronicSNV - 13/16
1-1254436-A-T INTS11 c.429+240T>A - IntronicSNV - 4/16
5-87514515-G-T TMEM161B c.446+1865C>A - IntronicSNV - 5/11
8-144902714-C-T PUF60 c.297+1053G>A - IntronicSNV - 4/10
17-7185062-C-A SLC2A4 c.1-192C>A - 5-UTRSNV 1/11 -
19-2232221-A-G DOT1L c.*2430A>G - 3-UTRSNV 28/28 -
19-2232221-A-T DOT1L c.*2430A>T - 3-UTRSNV 28/28 -
10-104719096-G-A CNNM2 c.1621+39238G>A - IntronicSNV - 1/7
1-151762308-C-G TDRKH c.-28+548G>C - intron_variant - 1/13
17-59013488-T-C BCAS3 c.1088-11092T>C - IntronicSNV - 13/23
1-151762308-C-A TDRKH c.-28+548G>T - intron_variant - 1/13
15-81028965-C-G ABHD17C c.591-12889C>G - IntronicSNV - 1/2
17-7185062-C-T SLC2A4 c.1-192C>T - 5-UTRSNV 1/11 -
3-41987920-T-A ULK4 c.138+8194A>T - IntronicSNV - 2/36
6-50683009-T-C TFAP2D c.220T>C p.Phe74Leu Missense 2/8 -
17-47402807-C-T ZNF652 c.1-7720G>A - IntronicSNV - 1/5
5-77837789-G-A LHFPL2 c.-186+22847C>T - intron_variant - 3/4
1-113231503-G-T MOV10 c.138-54G>T - IntronicSNV - 2/20
10-104554529-A-G WBP1L c.28-3221A>G - IntronicSNV - 1/3
8-135612745-A-G ZFAT c.2373T>C p.Asp791Asp Synonymous 8/17 -
11-63680719-C-G RCOR2 c.892-300G>C - IntronicSNV - 8/11
10-104906211-T-C NT5C2 c.102-6975A>G - IntronicSNV - 3/18
6-152397912-A-AC ESR1 c.1369+15653_1369+15654insC - IntronicInsertion - 6/7
2-85788175-T-A GGCX c.44-67A>T - IntronicSNV - 1/14
3-169100886-T-A MECOM c.38-1574A>T - IntronicSNV - 1/16
8-25900675-C-T EBF2 c.132-908G>A - IntronicSNV - 1/15
8-25900675-C-G EBF2 c.132-908G>C - IntronicSNV - 1/15
2-85788175-T-C GGCX c.44-67A>G - IntronicSNV - 1/14
7-129663496-C-T ZC3HC1 c.1088G>A p.Arg363His Missense 8/10 -
13-29022645-C-T FLT1 c.389-10163G>A - IntronicSNV - 3/29
11-100593538-G-A ARHGAP42 c.154+34975G>A - IntronicSNV - 1/23
19-10334443-A-T S1PR2 c.*77T>A - 3-UTRSNV 2/2 -
19-11202306-G-T LDLR c.67+2015G>T - IntronicSNV - 1/17
1-243471192-A-G SDCCAG8 c.741-99A>G - IntronicSNV - 7/17
3-41987920-T-C ULK4 c.138+8194A>G - IntronicSNV - 2/36
11-61278246-T-C LRRC10B c.*897T>C - 3-UTRSNV 1/1 -
14-100133942-T-C HHIPL1 c.1649-617T>C - IntronicSNV - 6/8
22-42038786-C-T XRCC6 c.774-4114C>T - IntronicSNV - 6/12
10-104616663-T-C BORCS7 c.141+2479T>C - IntronicSNV - 1/5
10-104846178-T-C CNNM2 c.*9241T>C - IntergenicSNV 8/8 -
6-134213181-C-G TCF21 c.*241C>G - IntronicSNV 3/3 -
17-2126504-G-C SMG6 c.145+13282C>G - IntronicSNV - 3/11
15-48914926-A-G FBN1 c.165-9637T>C - IntronicSNV - 2/65
3-50476378-G-C CACNA2D2 c.289-4518C>G - IntronicSNV - 2/37
16-83045790-A-G CDH13 c.158-19825A>G - IntronicSNV - 2/13
2-85491365-T-C TCF7L1 c.442-19253T>C - IntronicSNV - 3/11
2-28635740-T-C FOSL2 c.*425T>C - 3-UTRSNV 4/4 -
5-173377636-T-A CPEB4 c.1665+555T>A - IntronicSNV - 7/9
5-173377636-T-C CPEB4 c.1665+555T>C - IntronicSNV - 7/9
14-100133942-T-A HHIPL1 c.1649-617T>A - IntronicSNV - 6/8