PMID: 29666641

Brief Overview of a Decade of Genome-Wide Association Studies on Primary Hypertension.

International journal of endocrinology
AB Azam, EAB Azizan
2018

236 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11526765-G-A RGL3 c.485C>T p.Pro162Leu Missense 5/19 -
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 -
1-16341649-C-G HSPB7 c.*426G>C - 3-UTRSNV 3/3 -
17-61559625-A-G ACE c.1119-202A>G - IntronicSNV - 7/24
22-29451671-A-G ZNRF3 c.*2061A>G - 3-UTRSNV 9/9 -
3-41990122-G-A ULK4 c.138+5992C>T - IntronicSNV - 2/36
7-150690176-C-T NOS3 c.1-716C>T - IntronicSNV - 1/26
2-37517566-A-G PRKD3 c.559+445T>C - IntronicSNV - 3/17
2-179786068-T-C CCDC141 c.898-2434A>G - IntronicSNV - 6/23
1-217718789-C-T GPATCH2 c.1099-30558G>A - IntronicSNV - 5/9
8-141060027-G-A TRAPPC9 c.2851-25851C>T - IntronicSNV - 17/22
8-142367087-C-T GPR20 c.937G>A p.Gly313Ser Missense 2/2 -
1-40028180-A-G PABPC4 c.1669-92T>C - IntronicSNV - 12/15
12-49981722-T-C FAM186B c.2535-187A>G - IntronicSNV - 6/6
11-9754221-C-T SWAP70 c.1044C>T p.Asn348Asn Synonymous 7/12 -
11-63680719-C-T RCOR2 c.892-300G>A - IntronicSNV - 8/11
12-49981722-T-G FAM186B c.2535-187A>C - IntronicSNV - 6/6
16-75331044-T-G CFDP1 c.810-3104A>C - IntronicSNV - 6/6
1-3328659-C-T PRDM16 c.1898C>T p.Pro633Leu Missense 9/17 -
8-42324765-T-C SLC20A2 c.290-1330A>G - IntronicSNV - 2/10
22-40729614-A-G TNRC6B c.*10369A>G - 3-UTRSNV 24/24 -
1-176664440-A-G PAPPA2 c.2625-434A>G - IntronicSNV - 6/22
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
16-4943019-T-A PPL c.1650+195A>T - IntronicSNV - 14/21
16-4943019-T-G PPL c.1650+195A>C - IntronicSNV - 14/21
17-75317300-C-G SEPT9 c.22+870C>G - IntronicSNV - 1/10
17-75317300-C-T SEPT9 c.22+870C>T - IntronicSNV - 1/10
2-55809054-A-C PPP4R3B c.1233-220T>G - intron_variant - 7/14
2-55809054-A-G PPP4R3B c.1233-220T>C - intron_variant - 7/14
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 -
18-6282593-A-C L3MBTL4 c.128-18556T>G - IntronicSNV - 4/19
8-10758213-A-T XKR6 c.962-1787T>A - IntronicSNV - 2/2
7-27159136-G-C HOXA3 c.-122C>G - splice_region_variant,5_prime_UTR_variant 1/3 -
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-A HOXA3 c.-122C>T - splice_region_variant,5_prime_UTR_variant 1/3 -
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
3-27457208-G-A SLC4A7 c.1632+2769C>T - IntronicSNV - 11/24
1-40028180-A-C PABPC4 c.1669-92T>G - IntronicSNV - 12/15
19-11526765-G-T RGL3 c.485C>A p.Pro162His Missense 5/19 -
11-47461783-A-G RAPSN c.966+927T>C - IntronicSNV - 6/7
19-11526765-G-C RGL3 c.485C>G p.Pro162Arg Missense 5/19 -
8-10758213-A-G XKR6 c.962-1787T>C - IntronicSNV - 2/2
11-16922654-G-A PLEKHA7 c.222-29925C>T - IntronicSNV - 3/22
9-113169775-T-C SVEP1 c.8105A>G p.Asp2702Gly Missense 38/48 -
17-43208121-A-T PLCD3 c.163+1494T>A - IntronicSNV - 1/15
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
17-59485393-C-T TBX2 c.1687-22C>T - IntronicSNV - 6/6
12-123806219-C-T SBNO1 c.2183G>A p.Ser728Asn Missense 17/32 -
6-152312415-A-T ESR1 c.1097-20376A>T - IntronicSNV - 4/7
8-141055724-G-C TRAPPC9 c.2851-21548C>G - IntronicSNV - 17/22
12-90013089-T-G ATP2B1 c.1829+687A>C - IntronicSNV - 11/20
2-71627539-C-T ZNF638 c.2657-69C>T - IntronicSNV - 14/27
3-141134818-A-G ZBTB38 c.-1+11945A>G - intron_variant - 7/7
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
1-169207361-G-C NME7 c.755-436C>G - IntronicSNV - 7/11
1-169207361-G-A NME7 c.755-436C>T - IntronicSNV - 7/11
22-19988167-G-T ARVCF c.-19+9811C>A - intron_variant - 2/19
6-79655477-G-A PHIP c.4630+241C>T - IntronicSNV - 38/39
18-43097750-C-A SLC14A2 c.-35+34463C>A - intron_variant - 2/20
3-185317674-G-C SENP2 c.358+862G>C - IntronicSNV - 4/16
18-43097750-C-T SLC14A2 c.-35+34463C>T - intron_variant - 2/20
6-51832494-C-T PKHD1 c.5752-7670G>A - IntronicSNV - 35/66
1-11906821-C-T NPPA c.450+349G>A - IntronicSNV - 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 -
5-148391140-A-G SH3TC2 c.3204+1007T>C - IntronicSNV - 13/16
20-8626271-C-A PLCB1 c.385-478C>A - IntronicSNV - 4/31
8-141055724-G-A TRAPPC9 c.2851-21548C>T - IntronicSNV - 17/22
9-123586737-T-G PSMD5 c.1006+35A>C - IntronicSNV - 7/9
9-35906471-C-T HRCT1 c.187C>T p.Arg63Trp Missense 1/1 -
12-90013089-T-C ATP2B1 c.1829+687A>G - IntronicSNV - 11/20
5-87514515-G-T TMEM161B c.446+1865C>A - IntronicSNV - 5/11
6-50683009-T-C TFAP2D c.220T>C p.Phe74Leu Missense 2/8 -
8-10220412-C-A MSRA c.543+42913C>A - IntronicSNV - 5/5
8-10220412-C-G MSRA c.543+42913C>G - IntronicSNV - 5/5
1-6278414-A-G RNF207 c.1718A>G p.Asn573Ser Missense 17/18 -
19-2232221-A-G DOT1L c.*2430A>G - 3-UTRSNV 28/28 -
19-2232221-A-T DOT1L c.*2430A>T - 3-UTRSNV 28/28 -
15-81028965-C-G ABHD17C c.591-12889C>G - IntronicSNV - 1/2
17-40317241-T-G KCNH4 c.2085+226A>C - IntronicSNV - 11/16
17-47402807-C-T ZNF652 c.1-7720G>A - IntronicSNV - 1/5
17-40317241-T-C KCNH4 c.2085+226A>G - IntronicSNV - 11/16
1-153662423-G-A NPR1 c.2899G>A p.Glu967Lys Missense 19/22 -
10-104594507-A-G CYP17A1 c.666+35T>C - IntronicSNV - 3/7
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
19-7224431-G-A INSR c.653-39783C>T - IntronicSNV - 2/21
11-9754221-C-G SWAP70 c.1044C>G p.Asn348Lys Missense 7/12 -
8-25900675-C-T EBF2 c.132-908G>A - IntronicSNV - 1/15
8-25900675-C-G EBF2 c.132-908G>C - IntronicSNV - 1/15
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
11-828916-G-C CRACR2B c.230G>C p.Arg77Pro Missense 2/8 -
11-828916-G-A CRACR2B c.230G>A p.Arg77Gln Missense 2/8 -
10-18707448-T-C CACNB2 c.168+16476T>C - IntronicSNV - 2/12
10-105677897-A-C STN1 c.-102T>G - 5_prime_UTR_variant 1/10 -
20-47308798-G-A PREX1 c.1036+412C>T - IntronicSNV - 8/39
7-129663496-C-T ZC3HC1 c.1088G>A p.Arg363His Missense 8/10 -
10-64564934-C-G ADO c.115C>G p.Pro39Ala Missense 1/1 -
20-33764554-A-G PROCR c.655A>G p.Ser219Gly Missense 4/4 -
3-169100886-T-A MECOM c.38-1574A>T - IntronicSNV - 1/16
11-16902268-C-A PLEKHA7 c.222-9539G>T - IntronicSNV - 3/22
11-100593538-G-A ARHGAP42 c.154+34975G>A - IntronicSNV - 1/23
22-19967980-C-T ARVCF c.897-215G>A - IntronicSNV - 5/19
3-41765955-A-G ULK4 c.2322-6602T>C - IntronicSNV - 22/36
10-96563757-G-A CYP2C19 c.820-16496G>A - IntronicSNV - 5/8
11-100610546-T-C ARHGAP42 c.155-30528T>C - IntronicSNV - 1/23
22-42038786-C-T XRCC6 c.774-4114C>T - IntronicSNV - 6/12
1-243471192-A-G SDCCAG8 c.741-99A>G - IntronicSNV - 7/17
11-61278246-T-C LRRC10B c.*897T>C - 3-UTRSNV 1/1 -
10-104616663-T-C BORCS7 c.141+2479T>C - IntronicSNV - 1/5
4-40428091-C-T RBM47 c.1405G>A p.Gly469Arg Missense 5/5 -
10-104846178-T-C CNNM2 c.*9241T>C - IntergenicSNV 8/8 -
19-50139932-C-T RRAS c.397G>A p.Asp133Asn Missense 4/6 -
14-92359022-A-C FBLN5 c.503-1341T>G - IntronicSNV - 5/10
1-11850365-T-A MTHFR c.*372A>T - 3-UTRSNV 12/12 -
1-11850365-T-G MTHFR c.*372A>C - 3-UTRSNV 12/12 -
3-14958126-G-A FGD5 c.3406-630G>A - IntronicSNV - 11/19
2-85491365-T-C TCF7L1 c.442-19253T>C - IntronicSNV - 3/11
3-50476378-G-C CACNA2D2 c.289-4518C>G - IntronicSNV - 2/37
16-83045790-A-G CDH13 c.158-19825A>G - IntronicSNV - 2/13
2-28635740-T-C FOSL2 c.*425T>C - 3-UTRSNV 4/4 -
10-114754071-T-C TCF7L2 c.381+42705T>C - IntronicSNV - 3/13
5-173377636-T-A CPEB4 c.1665+555T>A - IntronicSNV - 7/9
5-173377636-T-C CPEB4 c.1665+555T>C - IntronicSNV - 7/9
17-42060631-A-G PYY c.-462-16731T>C - intron_variant - 1/6
13-113636156-C-T MCF2L c.79+12384C>T - IntronicSNV - 1/29
6-12903957-A-G PHACTR1 c.251-149640A>G - IntronicSNV - 4/14
11-16902268-C-T PLEKHA7 c.222-9539G>A - IntronicSNV - 3/22
11-8252853-A-G LMO1 c.26-802T>C - IntronicSNV - 1/3
15-81013037-G-A ABHD17C c.590+24677G>A - IntronicSNV - 1/2
14-23865885-G-A MYH6 c.2292+18C>T - IntronicSNV - 19/38
14-23865885-G-C MYH6 c.2292+18C>G - IntronicSNV - 19/38
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
1-10796866-T-C CASZ1 c.-77+23892A>G - intron_variant - 2/15
2-108875244-T-C SULT1C3 c.581T>C p.Met194Thr Missense 6/8 -
2-108875244-T-G SULT1C3 c.581T>G p.Met194Arg Missense 6/8 -
15-83799632-C-T TM6SF1 c.921+3403C>T - IntronicSNV - 9/9
1-113189053-G-A CAPZA1 c.40-779G>A - IntronicSNV - 1/9
15-83799632-C-G TM6SF1 c.921+3403C>G - IntronicSNV - 9/9
12-90060586-G-A ATP2B1 c.1-10923C>T - IntergenicSNV - 1/20
3-138119952-T-C MRAS c.527+497T>C - IntronicSNV - 5/5
12-90008959-A-G ATP2B1 c.2067+1620T>C - IntronicSNV - 12/20
19-15278808-C-G NOTCH3 c.5200-586G>C - IntronicSNV - 28/32
2-46363336-A-G PRKCE c.1593-8896A>G - IntronicSNV - 11/14
19-7255701-A-G INSR c.652+11655T>C - IntronicSNV - 2/21
16-89704365-G-C DPEP1 c.1051G>C p.Glu351Gln Missense 10/11 -
2-216300482-T-A FN1 c.44A>T p.Gln15Leu Missense 1/44 -
5-127868199-G-A FBN2 c.338-1813C>T - IntronicSNV - 2/64
16-89704365-G-A DPEP1 c.1051G>A p.Glu351Lys Missense 10/11 -
10-95895940-A-G PLCE1 c.1492+3724A>G - IntronicSNV - 3/32
20-19465907-G-A SLC24A3 c.272-30225G>A - IntronicSNV - 2/16
1-15798197-A-G CELA2A c.793-288A>G - IntronicSNV - 7/7
6-151004770-G-C PLEKHG1 c.-99+32848G>C - intron_variant - 2/16
14-53377540-T-C FERMT2 c.391+8301A>G - IntronicSNV - 3/14
14-53377540-T-G FERMT2 c.391+8301A>C - IntronicSNV - 3/14
7-40447971-G-A SUGCT c.727-40915G>A - IntronicSNV - 9/14
6-26091179-C-T HFE c.187C>T p.His63Tyr Missense 2/6 -
9-125755571-C-T RABGAP1 c.924-2749C>T - IntronicSNV - 6/25
2-218668732-C-A TNS1 c.*450G>T - 3-UTRSNV 33/33 -
3-47927484-T-C MAP4 c.2000-8471A>G - IntronicSNV - 8/18
7-100458093-C-G SLC12A9 c.1218+239C>G - IntronicSNV - 9/13
11-89224453-A-C NOX4 c.1-39T>G - 5-UTRSNV 1/18 -
4-120509279-T-C PDE5A c.831+8399A>G - IntronicSNV - 3/20
6-32044851-C-T TNXB c.4375+1959G>A - IntronicSNV - 11/43
11-1905292-T-C LSP1 c.591+38T>C - IntronicSNV - 5/10
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 -
9-85993901-T-C FRMD3 c.253-6031A>G - IntronicSNV - 2/13
11-100593538-G-C ARHGAP42 c.154+34975G>C - IntronicSNV - 1/23
1-227252626-A-G CDC42BPA c.2661+4852T>C - IntronicSNV - 20/34
4-169717148-C-A PALLD c.1964+84074C>A - IntronicSNV - 10/20
7-139463264-G-A HIPK2 c.19+14140C>T - intron_variant - 1/14
3-53635595-T-G CACNA1D c.484-49211T>G - IntronicSNV - 3/48
1-51021867-G-A FAF1 c.1268+10882C>T - IntronicSNV - 13/18
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 -
14-53377540-T-A FERMT2 c.391+8301A>T - IntronicSNV - 3/14
19-40760449-A-G AKT2 c.287+616T>C - IntronicSNV - 4/13
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 -
17-45013271-T-C GOSR2 c.*625T>C - 3-UTRSNV 5/5 -
19-40760449-A-T AKT2 c.287+616T>A - IntronicSNV - 4/13
10-18708798-A-T CACNB2 c.168+17826A>T - IntronicSNV - 2/12
2-169041386-T-G STK39 c.209-2786A>C - IntronicSNV - 1/17
17-7571752-T-G TP53 c.*1175A>C - 3-UTRSNV 11/11 -
1-38411445-G-A INPP5B c.135C>T p.His45His Synonymous 3/24 -
9-136522274-C-T DBH c.1645C>T p.Arg549Cys Missense 11/12 -
19-19789528-A-G ZNF101 c.131-7A>G - IntronicSNV - 2/3
11-9763969-C-T SWAP70 c.1355+2075C>T - IntronicSNV - 9/11
15-75077367-C-T CSK c.-66+2306C>T - intron_variant - 1/12
15-75077367-C-A CSK c.-66+2306C>A - intron_variant - 1/12
15-91437388-A-C FES c.2326+100A>C - IntronicSNV - 18/18
4-40428091-C-G RBM47 c.1405G>C p.Gly469Arg Missense 5/5 -
2-180715706-T-A ZNF385B c.-155+10122A>T - intron_variant - 1/9
12-111884608-T-G SH2B3 c.784T>G p.Trp262Gly Missense 3/8 -
9-35906471-C-G HRCT1 c.187C>G p.Arg63Gly Missense 1/1 -
2-46363336-A-C PRKCE c.1593-8896A>C - IntronicSNV - 11/14
15-91437388-A-T FES c.2326+100A>T - IntronicSNV - 18/18
17-46688256-T-C HOXB7 c.25A>G p.Thr9Ala Missense 1/2 -
9-127900996-T-C SCAI c.98+3916A>G - IntronicSNV - 2/18
12-50537815-A-T CERS5 c.223T>A p.Cys75Ser Missense 2/10 -
15-79070000-C-T ADAMTS7 c.1323-70G>A - IntronicSNV - 8/23
14-35871217-G-C NFKBIA c.*2C>G - 3-UTRSNV 6/6 -
12-50537815-A-G CERS5 c.223T>C p.Cys75Arg Missense 2/10 -
14-35871217-G-T NFKBIA c.*2C>A - 3-UTRSNV 6/6 -
14-35871217-G-A NFKBIA c.*2C>T - 3-UTRSNV 6/6 -
14-63928546-A-G PPP2R5E c.158-7943T>C - IntronicSNV - 2/13
3-169100886-T-C MECOM c.38-1574A>G - IntronicSNV - 1/16
12-49399132-G-C PRKAG1 c.266C>G p.Thr89Ser Missense 5/12 -
2-180715706-T-C ZNF385B c.-155+10122A>G - intron_variant - 1/9
5-122476457-G-C PRDM6 c.901-15121G>C - IntronicSNV - 3/7
5-122476457-G-A PRDM6 c.901-15121G>A - IntronicSNV - 3/7
17-60767151-C-T MRC2 c.3573+30C>T - IntronicSNV - 24/29
17-1333598-T-C CRK c.777+6316A>G - IntronicSNV - 2/2
1-230848702-C-G AGT c.-4+1130G>C - intron_variant - 1/4
3-128201889-C-T GATA2 c.1017+814G>A - IntronicSNV - 4/5
11-58207203-C-G OR5B12 c.422G>C p.Cys141Ser Missense 1/1 -
1-230848702-C-T AGT c.-4+1130G>A - intron_variant - 1/4
11-58207203-C-T OR5B12 c.422G>A p.Cys141Tyr Missense 1/1 -