PMID: 31469255

A genome-wide association and replication study of blood pressure in Ugandan early adolescents.

Molecular genetics & genomic medicine
SA Lule, AJ Mentzer, B Namara, AG Muwenzi, B Nassanga, D Kizito, H Akurut, L Lubyayi, J Tumusiime, C Zziwa, F Akello, D Gurdasani, M Sandhu, L Smeeth, AM Elliott, EL Webb
2019-10

233 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-203109801-C-T ADORA1 c.341+11491C>T - IntronicSNV - 3/3
17-56876627-A-C PPM1E c.464+42805A>C - IntronicSNV - 1/6
17-56876627-A-T PPM1E c.464+42805A>T - IntronicSNV - 1/6
1-10796866-T-C CASZ1 c.-77+23892A>G - intron_variant - 2/15
2-213188795-T-C ERBB4 c.83-199167A>G - IntronicSNV - 1/26
2-213188795-T-A ERBB4 c.83-199167A>T - IntronicSNV - 1/26
10-133773019-G-A PPP2R2D c.*3552G>A - 3_prime_UTR_variant 7/7 -
6-43308363-C-T ZNF318 c.3496-123G>A - IntronicSNV - 9/9
10-133773019-G-C PPP2R2D c.*3552G>C - 3_prime_UTR_variant 7/7 -
3-158316726-T-C MLF1 c.408+729T>C - IntronicSNV - 4/6
3-138119952-T-C MRAS c.527+497T>C - IntronicSNV - 5/5
12-90060586-G-A ATP2B1 c.1-10923C>T - IntergenicSNV - 1/20
15-100145224-C-T MEF2A c.1-28101C>T - IntronicSNV - 1/9
1-29549216-G-A MECR c.177-6019C>T - IntronicSNV - 1/9
14-72462381-G-A RGS6 c.84+30789G>A - IntronicSNV - 2/17
6-154418759-A-G OPRM1 c.1164+6152A>G - IntronicSNV - 3/3
7-28142088-A-T JAZF1 c.115+77994T>A - IntronicSNV - 1/4
7-28142088-A-G JAZF1 c.115+77994T>C - IntronicSNV - 1/4
2-230629138-C-T TRIP12 c.*3132G>A - IntergenicSNV 41/41 -
16-706067-G-A WDR90 c.1966+178G>A - IntronicSNV - 17/40
5-127868199-G-A FBN2 c.338-1813C>T - IntronicSNV - 2/64
16-89704365-G-C DPEP1 c.1051G>C p.Glu351Gln Missense 10/11 -
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
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
6-26091179-C-G HFE c.187C>G p.His63Asp Missense 2/6 -
6-1613686-A-T FOXC1 c.*1344A>T - 3-UTRSNV 1/1 -
6-26091179-C-T HFE c.187C>T p.His63Tyr Missense 2/6 -
13-51489186-G-A RNASEH2B c.64+4910G>A - IntronicSNV - 1/10
2-218668732-C-A TNS1 c.*450G>T - 3-UTRSNV 33/33 -
3-47927484-T-C MAP4 c.2000-8471A>G - IntronicSNV - 8/18
7-77572461-T-C PHTF2 c.1845+358T>C - IntronicSNV - 13/16
1-46541679-T-G PIK3R3 c.314+1508A>C - IntronicSNV - 3/9
5-66291370-A-G MAST4 c.675-58862A>G - IntronicSNV - 4/28
4-120509279-T-C PDE5A c.831+8399A>G - IntronicSNV - 3/20
2-183224127-G-A PDE1A c.102-94986C>T - IntronicSNV - 2/14
17-73949045-C-T ACOX1 c.830+487G>A - IntronicSNV - 7/13
2-112769721-G-A MERTK c.2079+2078G>A - IntronicSNV - 15/18
11-100593538-G-C ARHGAP42 c.154+34975G>C - IntronicSNV - 1/23
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
11-1905292-T-C LSP1 c.591+38T>C - IntronicSNV - 5/10
14-53377540-T-A FERMT2 c.391+8301A>T - IntronicSNV - 3/14
3-53635595-T-G CACNA1D c.484-49211T>G - IntronicSNV - 3/48
18-48142854-T-G MAPK4 c.1-47475T>G - IntronicSNV - 1/5
19-40760449-A-G AKT2 c.287+616T>C - IntronicSNV - 4/13
10-102075479-G-A PKD2L1 c.349+13489C>T - IntronicSNV - 2/15
19-40760449-A-T AKT2 c.287+616T>A - IntronicSNV - 4/13
11-65408937-C-G SIPA1 c.545C>G p.Ser182Cys Missense 2/16 -
4-95938386-G-A BMPR1B c.-18+21101G>A - intron_variant - 3/12
8-10268736-A-G MSRA c.544-16922A>G - IntronicSNV - 5/5
19-19789528-A-G ZNF101 c.131-7A>G - IntronicSNV - 2/3
8-143312933-A-C TSNARE1 c.1447-1993T>G - IntronicSNV - 12/13
11-65408937-C-T SIPA1 c.545C>T p.Ser182Phe Missense 2/16 -
14-75074316-G-A LTBP2 c.494+3838C>T - IntronicSNV - 1/35
9-109670016-A-C ZNF462 c.1-15649A>C - IntronicSNV - 1/12
9-109670016-A-T ZNF462 c.1-15649A>T - IntronicSNV - 1/12
18-60845884-T-C BCL2 c.586-49892A>G - IntronicSNV - 2/2
15-75077367-C-A CSK c.-66+2306C>A - intron_variant - 1/12
15-75077367-C-T CSK c.-66+2306C>T - intron_variant - 1/12
9-35906471-C-G HRCT1 c.187C>G p.Arg63Gly Missense 1/1 -
13-97988689-A-G MBNL2 c.339+1995A>G - IntronicSNV - 3/8
15-91437388-A-T FES c.2326+100A>T - IntronicSNV - 18/18
6-154418759-A-T OPRM1 c.1164+6152A>T - IntronicSNV - 3/3
17-46688256-T-C HOXB7 c.25A>G p.Thr9Ala Missense 1/2 -
15-79070000-C-T ADAMTS7 c.1323-70G>A - IntronicSNV - 8/23
12-50537815-A-T CERS5 c.223T>A p.Cys75Ser Missense 2/10 -
10-13523937-C-T BEND7 c.682-813G>A - IntronicSNV - 5/8
15-91437388-A-C FES c.2326+100A>C - IntronicSNV - 18/18
12-50537815-A-G CERS5 c.223T>C p.Cys75Arg Missense 2/10 -
3-169100886-T-C MECOM c.38-1574A>G - IntronicSNV - 1/16
14-63928546-A-G PPP2R5E c.158-7943T>C - IntronicSNV - 2/13
6-20686996-C-T CDKAL1 c.371+37388C>T - IntronicSNV - 5/15
6-20686996-C-A CDKAL1 c.371+37388C>A - IntronicSNV - 5/15
5-122476457-G-C PRDM6 c.901-15121G>C - IntronicSNV - 3/7
5-122476457-G-A PRDM6 c.901-15121G>A - IntronicSNV - 3/7
11-30355707-A-C ARL14EP c.554+1167A>C - IntronicSNV - 3/3
7-75097488-A-T POM121C c.-152+6482T>A - intron_variant - 3/14
7-75097488-A-C POM121C c.-152+6482T>G - intron_variant - 3/14
7-150704843-G-C NOS3 c.2112+479G>C - IntronicSNV - 17/26
7-150704843-G-A NOS3 c.2112+479G>A - IntronicSNV - 17/26
2-122000745-T-C TFCP2L1 c.658-700A>G - IntronicSNV - 6/14
12-102837863-T-C IGF1 c.221-24395A>G - IntronicSNV - 2/3
19-11526765-G-A RGL3 c.485C>T p.Pro162Leu Missense 5/19 -
18-51851616-C-A STARD6 c.480-371G>T - IntronicSNV - 7/7
11-9762274-T-C SWAP70 c.1355+380T>C - IntronicSNV - 9/11
1-230848702-C-G AGT c.-4+1130G>C - intron_variant - 1/4
11-58207203-C-G OR5B12 c.422G>C p.Cys141Ser Missense 1/1 -
11-70005641-G-A ANO1 c.1579-1626G>A - IntronicSNV - 16/25
17-1333598-T-C CRK c.777+6316A>G - IntronicSNV - 2/2
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 -
6-118572486-T-A SLC35F1 c.478-15672T>A - IntronicSNV - 3/7
6-118572486-T-C SLC35F1 c.478-15672T>C - IntronicSNV - 3/7
22-29451671-A-G ZNRF3 c.*2061A>G - 3-UTRSNV 9/9 -
11-8774923-G-A ST5 c.1-2676C>T - IntronicSNV - 4/22
17-61559625-A-G ACE c.1119-202A>G - IntronicSNV - 7/24
11-16250183-C-A SOX6 c.535+5945G>T - IntronicSNV - 4/15
2-37517566-A-G PRKD3 c.559+445T>C - IntronicSNV - 3/17
11-16250183-C-T SOX6 c.535+5945G>A - IntronicSNV - 4/15
11-16250183-C-G SOX6 c.535+5945G>C - IntronicSNV - 4/15
3-126737466-G-A PLXNA1 c.3895+95G>A - IntronicSNV - 19/30
1-218549354-A-T TGFB2 c.346+28965A>T - IntronicSNV - 1/6
12-96717095-G-A CDK17 c.283+631C>T - IntronicSNV - 3/16
6-1613686-A-G FOXC1 c.*1344A>G - 3-UTRSNV 1/1 -
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 -
14-30122409-C-T PRKD1 c.696+10496G>A - IntronicSNV - 4/17
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
22-50727921-T-C PLXNB2 c.1068+25A>G - IntronicSNV - 3/36
17-75317300-C-G SEPT9 c.22+870C>G - IntronicSNV - 1/10
17-75317300-C-T SEPT9 c.22+870C>T - IntronicSNV - 1/10
19-7252756-C-T INSR c.652+14600G>A - IntronicSNV - 2/21
5-1279790-C-T TERT c.1951-205G>A - IntronicSNV - 4/14
2-40567743-C-T SLC8A1 c.1808+87870G>A - IntronicSNV - 2/10
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 -
7-131059056-G-A MKLN1 c.99-1127G>A - IntronicSNV - 1/17
7-75097488-A-G POM121C c.-152+6482T>C - intron_variant - 3/14
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
1-145713305-G-C CD160 c.-179+2221C>G - intron_variant - 1/5
2-43716933-G-A THADA c.3745-4469C>T - IntronicSNV - 25/37
2-218668732-C-T TNS1 c.*450G>A - 3-UTRSNV 33/33 -
18-60845884-T-A BCL2 c.586-49892A>T - IntronicSNV - 2/2
3-132780356-C-T TMEM108 c.-47+15492C>T - intron_variant - 2/5
19-11526765-G-T RGL3 c.485C>A p.Pro162His Missense 5/19 -
11-16302939-C-T SOX6 c.445+37053G>A - IntronicSNV - 3/15
19-11526765-G-C RGL3 c.485C>G p.Pro162Arg Missense 5/19 -
1-209970355-G-C IRF6 c.175-458C>G - IntronicSNV - 3/8
11-47461783-A-G RAPSN c.966+927T>C - IntronicSNV - 6/7
15-92702020-G-T SLCO3A1 c.1754-3966G>T - IntronicSNV - 9/9
10-75855842-C-T VCL c.1743+229C>T - IntronicSNV - 12/20
15-92702020-G-C SLCO3A1 c.1754-3966G>C - IntronicSNV - 9/9
1-11865804-A-G MTHFR c.-14+141T>C - intron_variant - 1/11
1-180859368-T-G XPR1 c.*6166T>G - 3-UTRSNV 15/15 -
3-185317674-G-C SENP2 c.358+862G>C - IntronicSNV - 4/16
10-134459388-A-G INPP5A c.134A>G p.Lys45Arg Missense 3/16 -
17-43208121-A-T PLCD3 c.163+1494T>A - IntronicSNV - 1/15
16-81574197-T-C CMIP c.18+45098T>C - IntronicSNV - 1/20
12-123806219-C-T SBNO1 c.2183G>A p.Ser728Asn Missense 17/32 -
12-90013089-T-G ATP2B1 c.1829+687A>C - IntronicSNV - 11/20
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 -
1-204497913-G-C MDM4 c.154-1899G>C - IntronicSNV - 3/10
7-134215259-A-T AKR1B10 c.67-136A>T - IntronicSNV - 1/9
12-124820705-A-C NCOR2 c.6116-527T>G - IntronicSNV - 40/48
12-124820705-A-G NCOR2 c.6116-527T>C - IntronicSNV - 40/48
6-79655477-G-A PHIP c.4630+241C>T - IntronicSNV - 38/39
4-114209732-T-C ANK2 c.2277+90T>C - IntronicSNV - 20/45
16-66914492-C-T PDP2 c.-106C>T - 5_prime_UTR_variant 1/2 -
18-10879503-G-A PIEZO2 c.330-8090C>T - IntronicSNV - 4/51
18-10879503-G-C PIEZO2 c.330-8090C>G - IntronicSNV - 4/51
8-141858620-T-C PTK2 c.517-1843A>G - IntronicSNV - 5/31
2-219651349-G-T CYP27A1 c.255+4189G>T - IntronicSNV - 1/8
11-65353906-A-G EHBP1L1 c.3933+844A>G - IntronicSNV - 12/18
9-95201540-T-A CENPP c.564+59399T>A - IntronicSNV - 5/7
6-51832494-C-T PKHD1 c.5752-7670G>A - IntronicSNV - 35/66
2-66782467-C-T MEIS1 c.965+7316C>T - IntronicSNV - 9/12
20-8626271-C-A PLCB1 c.385-478C>A - IntronicSNV - 4/31
9-35906471-C-T HRCT1 c.187C>T p.Arg63Trp Missense 1/1 -
17-58950791-T-C BCAS3 c.585-1232T>C - IntronicSNV - 8/23
9-130309028-T-C FAM129B c.56-14971A>G - IntronicSNV - 1/13
9-123586737-T-G PSMD5 c.1006+35A>C - IntronicSNV - 7/9
6-43270151-C-T SLC22A7 c.1269C>T p.Ser423Ser Synonymous 7/10 -
5-122435627-G-T PRDM6 c.871G>T p.Ala291Ser Missense 3/8 -
12-90013089-T-C ATP2B1 c.1829+687A>G - IntronicSNV - 11/20
1-94051350-A-C BCAR3 c.930-1672T>G - IntronicSNV - 7/13
4-2694773-G-T FAM193A c.1931-540G>T - IntronicSNV - 13/18
4-2694773-G-C FAM193A c.1931-540G>C - IntronicSNV - 13/18
5-122435627-G-A PRDM6 c.871G>A p.Ala291Thr Missense 3/8 -
17-47402807-C-T ZNF652 c.1-7720G>A - IntronicSNV - 1/5
4-18008232-A-G LCORL c.154+14989T>C - IntronicSNV - 1/6
2-196853830-A-G DNAH7 c.1354-877T>C - IntronicSNV - 12/64
4-103769304-T-C UBE2D3 c.30+20568A>G - IntronicSNV - 1/6
8-25900675-C-T EBF2 c.132-908G>A - IntronicSNV - 1/15
3-132780356-C-G TMEM108 c.-47+15492C>G - intron_variant - 2/5
15-100145224-C-A MEF2A c.1-28101C>A - IntronicSNV - 1/9
8-25900675-C-G EBF2 c.132-908G>C - IntronicSNV - 1/15
18-54578482-C-T WDR7 c.3527-12671C>T - IntronicSNV - 21/27
8-135612745-A-G ZFAT c.2373T>C p.Asp791Asp Synonymous 8/17 -
10-105677897-A-C STN1 c.-102T>G - 5_prime_UTR_variant 1/10 -
10-18707448-T-C CACNB2 c.168+16476T>C - IntronicSNV - 2/12
10-115805056-G-C ADRB1 c.1165G>C p.Gly389Arg Missense 1/1 -
7-129663496-C-T ZC3HC1 c.1088G>A p.Arg363His Missense 8/10 -
20-47308798-G-A PREX1 c.1036+412C>T - IntronicSNV - 8/39
8-38130025-G-A NSD3 c.*3134C>T - IntergenicSNV 24/24 -
10-64564934-C-G ADO c.115C>G p.Pro39Ala Missense 1/1 -
3-169100886-T-A MECOM c.38-1574A>T - IntronicSNV - 1/16
12-79685226-T-C SYT1 c.352-562T>C - IntronicSNV - 5/10
9-95201540-T-C CENPP c.564+59399T>C - IntronicSNV - 5/7
11-16902268-C-A PLEKHA7 c.222-9539G>T - IntronicSNV - 3/22
11-100593538-G-A ARHGAP42 c.154+34975G>A - IntronicSNV - 1/23
6-126228512-G-A NCOA7 c.2097-7967G>A - IntronicSNV - 11/16
1-243471192-A-G SDCCAG8 c.741-99A>G - IntronicSNV - 7/17
6-131311909-C-T EPB41L2 c.1-34284G>A - IntronicSNV - 1/14
2-144146311-A-C ARHGAP15 c.475-46859A>C - IntronicSNV - 6/13
1-43856410-A-G SZT2 c.27+744A>G - IntronicSNV - 1/70
1-43856410-A-C SZT2 c.27+744A>C - IntronicSNV - 1/70
1-197297417-T-C CRB1 c.71-135T>C - IntronicSNV - 1/11
11-61278246-T-C LRRC10B c.*897T>C - 3-UTRSNV 1/1 -
1-184585182-C-T C1orf21 c.328-3470C>T - IntronicSNV - 5/5
6-131311909-C-A EPB41L2 c.1-34284G>T - IntronicSNV - 1/14
2-23904233-T-C KLHL29 c.941-3036T>C - IntronicSNV - 5/13
10-104846178-T-C CNNM2 c.*9241T>C - IntergenicSNV 8/8 -
1-11850365-T-A MTHFR c.*372A>T - 3-UTRSNV 12/12 -
1-11850365-T-G MTHFR c.*372A>C - 3-UTRSNV 12/12 -
3-41877414-T-C ULK4 c.1706A>G p.Lys569Arg Missense 18/37 -
8-22428708-A-G SORBS3 c.1717A>G p.Thr573Ala Missense 18/21 -
3-14958126-G-A FGD5 c.3406-630G>A - IntronicSNV - 11/19
11-30355707-A-G ARL14EP c.554+1167A>G - IntronicSNV - 3/3
3-50476378-G-C CACNA2D2 c.289-4518C>G - IntronicSNV - 2/37
2-28635740-T-C FOSL2 c.*425T>C - 3-UTRSNV 4/4 -
13-113636156-C-T MCF2L c.79+12384C>T - IntronicSNV - 1/29
5-173377636-T-A CPEB4 c.1665+555T>A - IntronicSNV - 7/9
5-173377636-T-C CPEB4 c.1665+555T>C - IntronicSNV - 7/9
4-2165493-A-T POLN c.1555-4555T>A - IntronicSNV - 13/25
4-2165493-A-C POLN c.1555-4555T>G - IntronicSNV - 13/25
11-16902268-C-T PLEKHA7 c.222-9539G>A - IntronicSNV - 3/22
5-132397351-G-A HSPA4 c.108-3321G>A - IntronicSNV - 1/18
14-103859962-C-T MARK3 c.51+7545C>T - IntronicSNV - 1/17
6-131311909-C-G EPB41L2 c.1-34284G>C - IntronicSNV - 1/14
5-132397351-G-T HSPA4 c.108-3321G>T - IntronicSNV - 1/18
15-85680532-C-A PDE8A c.2384-496C>A - IntronicSNV - 21/21
15-81013037-G-A ABHD17C c.590+24677G>A - IntronicSNV - 1/2
15-85680532-C-G PDE8A c.2384-496C>G - IntronicSNV - 21/21
1-11862778-A-G MTHFR c.236+160T>C - IntronicSNV - 2/11