PMID: 31786580

A Single-Nucleotide Polymorphism (rs1131243) of the Transforming Growth Factor Beta Signaling Pathway Contributes to Risk of Acute Rejection in Chinese Renal Transplant Recipients.

Medical science monitor : international medical journal of experimental and clinical research
M Zheng, H Yang, W Li, J Zhou, J Wei, Z Wang, M Guo, H Chen, L Sun, Z Han, J Tao, X Ju, R Tan, J Wei, M Gu
2019-12-01

211 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
18-48577782-G-C SMAD4 c.454+2088G>C - IntronicSNV - 4/11
1-153507679-GA-AG S100A6 c.136_137delTCinsAG p.Ser46Arg Missense 2/3 -
18-48591860-T-G SMAD4 c.1023T>G p.Val341Val Synonymous 9/12 -
18-48591860-T-C SMAD4 c.1023T>C p.Val341Val Synonymous 9/12 -
1-92200389-A-G TGFBR3 c.512T>C p.Val171Ala Missense 5/17 -
9-101890980-A-G TGFBR1 c.98-157A>G - IntronicSNV - 1/7
1-92178172-T-C TGFBR3 c.1867-73A>G - IntronicSNV - 12/16
1-92185059-A-T TGFBR3 c.1414-38T>A - IntronicSNV - 9/16
19-41854052-C-G TGFB1 c.516+148G>C - IntronicSNV - 2/6
19-41854052-C-A TGFB1 c.516+148G>T - IntronicSNV - 2/6
14-76431886-T-A TGFB3 c.754+45A>T - IntronicSNV - 4/6
1-92181670-C-A TGFBR3 c.1866+123G>T - IntronicSNV - 12/16
19-41837997-C-T TGFB1 c.1014+36G>A - IntronicSNV - 6/6
3-30713126-T-C TGFBR2 c.530-4T>C - IntronicSNV - 4/7
15-67462729-G-A SMAD3 c.608-163G>A - IntronicSNV - 4/8
18-48577894-G-A SMAD4 c.454+2200G>A - IntronicSNV - 4/11
1-92185657-C-T TGFBR3 c.1206G>A p.Pro402Pro Synonymous 9/17 -
9-101907072-T-C TGFBR1 c.801T>C p.Asn267Asn Synonymous 5/8 -
1-92178259-C-T TGFBR3 c.1867-160G>A - IntronicSNV - 12/16
18-45377752-G-T SMAD2 c.731-54C>A - IntronicSNV - 6/10
19-41847933-A-T TGFB1 c.715T>A p.Phe239Ile Missense 5/7 -
3-30713842-C-T TGFBR2 c.1242C>T p.Asn414Asn Synonymous 5/8 -
1-92185134-A-C TGFBR3 c.1414-113T>G - IntronicSNV - 9/16
1-92184673-G-A TGFBR3 c.1566+196C>T - IntronicSNV - 10/16
18-45377752-G-A SMAD2 c.731-54C>T - IntronicSNV - 6/10
1-92177938-A-G TGFBR3 c.2028T>C p.Phe676Phe Synonymous 13/17 -
19-41859047-A-C TGFB1 c.1-98T>G - 5-UTRSNV 1/7 -
1-92193662-A-G TGFBR3 c.738-299T>C - IntronicSNV - 6/16
1-92262874-T-G TGFBR3 c.216A>C p.Ala72Ala Synonymous 3/17 -
1-92262874-T-C TGFBR3 c.216A>G p.Ala72Ala Synonymous 3/17 -
1-92262874-T-A TGFBR3 c.216A>T p.Ala72Ala Synonymous 3/17 -
18-45377682-T-C SMAD2 c.747A>G p.Leu249Leu Synonymous 7/11 -
19-41847736-T-C TGFB1 c.860+52A>G - IntronicSNV - 5/6
3-30713314-C-T TGFBR2 c.714C>T p.Ser238Ser Synonymous 5/8 -
1-92174260-A-G TGFBR3 c.2247T>C p.Thr749Thr Synonymous 14/17 -
15-67479725-C-T SMAD3 c.1032C>T p.Asn344Asn Synonymous 8/9 -
1-92174260-A-T TGFBR3 c.2247T>A p.Thr749Thr Synonymous 14/17 -
3-30713292-C-T TGFBR2 c.692C>T p.Thr231Met Missense 5/8 -
18-48586344-C-T SMAD4 c.955+58C>T - IntronicSNV - 8/11
18-45371509-C-T SMAD2 c.1280+202G>A - IntronicSNV - 10/10
1-92181746-T-C TGFBR3 c.1866+47A>G - IntronicSNV - 12/16
15-67457850-G-A SMAD3 c.532+128G>A - IntronicSNV - 3/8
14-76425446-G-T TGFB3 c.*84C>A - 3-UTRSNV 7/7 -
14-76437614-A-G TGFB3 c.517-16T>C - IntronicSNV - 2/6
1-92178259-C-A TGFBR3 c.1867-160G>T - IntronicSNV - 12/16
1-92266836-C-T TGFBR3 c.62-3808G>A - IntronicSNV - 2/16
19-41854534-T-C TGFB1 c.356-174A>G - IntronicSNV - 1/6
18-48573445-C-T SMAD4 c.29C>T p.Pro10Leu Missense 2/12 -
19-41848038-C-T TGFB1 c.712+37G>A - IntronicSNV - 4/6
19-41848038-C-G TGFB1 c.712+37G>C - IntronicSNV - 4/6
15-67462729-G-C SMAD3 c.608-163G>C - IntronicSNV - 4/8
3-30713619-C-T TGFBR2 c.1019C>T p.Thr340Met Missense 5/8 -
1-92200593-A-G TGFBR3 c.385-77T>C - IntronicSNV - 4/16
15-67430223-T-C SMAD3 c.207-27010T>C - IntronicSNV - 1/8
18-45374824-C-T SMAD2 c.997+22G>A - IntronicSNV - 8/10
19-41854534-T-A TGFB1 c.356-174A>T - IntronicSNV - 1/6
18-45375138-C-T SMAD2 c.785-80G>A - IntronicSNV - 7/10
1-92263079-G-A TGFBR3 c.62-51C>T - IntronicSNV - 2/16
18-48573689-A-G SMAD4 c.249+24A>G - IntronicSNV - 2/11
18-48586328-T-G SMAD4 c.955+42T>G - IntronicSNV - 8/11
18-48586328-T-A SMAD4 c.955+42T>A - IntronicSNV - 8/11
15-67358636-G-T SMAD3 c.144G>T p.Leu48Leu Synonymous 1/9 -
14-76446943-C-T TGFB3 c.294G>A p.Ser98Ser Synonymous 1/7 -
15-67358634-C-T SMAD3 c.142C>T p.Leu48Leu Synonymous 1/9 -
18-45394662-C-A SMAD2 c.655+32G>T - IntronicSNV - 5/10
1-92161515-T-A TGFBR3 c.2330-179A>T - IntronicSNV - 15/16
1-92184814-G-T TGFBR3 c.1566+55C>A - IntronicSNV - 10/16
1-92174383-A-G TGFBR3 c.2167-43T>C - IntronicSNV - 13/16
15-67462923-C-T SMAD3 c.639C>T p.Ser213Ser Synonymous 5/9 -
15-67462923-C-G SMAD3 c.639C>G p.Ser213Ser Synonymous 5/9 -
15-67462923-C-A SMAD3 c.639C>A p.Ser213Ser Synonymous 5/9 -
19-41854400-C-T TGFB1 c.356-40G>A - IntronicSNV - 1/6
1-92224067-C-T TGFBR3 c.384+103G>A - IntronicSNV - 4/16
19-41850742-G-A TGFB1 c.544C>T p.Leu182Phe Missense 3/7 -
9-101890227-C-T TGFBR1 c.98-910C>T - IntronicSNV - 1/7
3-30686414-A-T TGFBR2 c.338+7A>T - IntronicSNV - 3/7
1-92263079-G-T TGFBR3 c.62-51C>A - IntronicSNV - 2/16
1-92174260-A-C TGFBR3 c.2247T>G p.Thr749Thr Synonymous 14/17 -
15-67459160-T-C SMAD3 c.576T>C p.Ser192Ser Synonymous 4/9 -
1-92327045-G-A TGFBR3 c.44C>T p.Ser15Phe Missense 2/17 -
15-67358558-G-A SMAD3 c.66G>A p.Glu22Glu Synonymous 1/9 -
3-30686264-C-T TGFBR2 c.195C>T p.Asp65Asp Synonymous 3/8 -
18-48586184-A-G SMAD4 c.905-52A>G - IntronicSNV - 7/11
14-76437431-G-A TGFB3 c.646+38C>T - IntronicSNV - 3/6
15-67479198-C-T SMAD3 c.1010-505C>T - IntronicSNV - 7/8
19-41850921-C-T TGFB1 c.517-152G>A - IntronicSNV - 2/6
3-30686414-A-G TGFBR2 c.338+7A>G - IntronicSNV - 3/7
15-67358636-G-C SMAD3 c.144G>C p.Leu48Leu Synonymous 1/9 -
15-67358636-G-A SMAD3 c.144G>A p.Leu48Leu Synonymous 1/9 -
1-92187567-AG-TG TGFBR3 c.1019_1020delCTinsTG p.Thr340Met Missense 8/17 -
1-92200627-T-C TGFBR3 c.385-111A>G - IntronicSNV - 4/16
18-45371846-A-G SMAD2 c.1145T>C p.Leu382Pro Missense 10/11 -
1-153507250-G-A S100A6 c.195C>T p.Asp65Asp Synonymous 3/3 -
1-92149139-C-T TGFBR3 c.*157G>A - 3-UTRSNV 17/17 -
1-92185185-T-C TGFBR3 c.1414-164A>G - IntronicSNV - 9/16
3-30713126-T-A TGFBR2 c.530-4T>A - IntronicSNV - 4/7
19-41854086-C-T TGFB1 c.516+114G>A - IntronicSNV - 2/6
9-101907222-C-T TGFBR1 c.899+52C>T - IntronicSNV - 5/7
1-92161307-C-T TGFBR3 c.2359G>A p.Val787Met Missense 16/17 -
9-101891447-G-C TGFBR1 c.343+65G>C - IntronicSNV - 2/7
1-92163682-C-G TGFBR3 c.2293G>C p.Gly765Arg Missense 15/17 -
3-30713246-G-A TGFBR2 c.646G>A p.Val216Ile Missense 5/8 -
15-67458930-C-T SMAD3 c.533-187C>T - IntronicSNV - 3/8
15-67458930-C-G SMAD3 c.533-187C>G - IntronicSNV - 3/8
1-92266656-A-G TGFBR3 c.62-3628T>C - IntronicSNV - 2/16
19-41848075-C-T TGFB1 c.712G>A p.Gly238Arg Missense 4/7 -
19-41848075-C-G TGFB1 c.712G>C p.Gly238Arg Missense 4/7 -
15-67457647-C-T SMAD3 c.457C>T p.Leu153Leu Synonymous 3/9 -
1-218607817-G-A TGFB2 c.754+27G>A - IntronicSNV - 4/6
18-45394653-G-A SMAD2 c.655+41C>T - IntronicSNV - 5/10
15-67430552-T-C SMAD3 c.207-26681T>C - IntronicSNV - 1/8
3-30648248-C-G TGFBR2 c.1-128C>G - 5-UTRSNV 1/8 -
3-30648248-C-T TGFBR2 c.1-128C>T - 5-UTRSNV 1/8 -
1-92181678-T-G TGFBR3 c.1866+115A>C - IntronicSNV - 12/16
9-101908915-G-A TGFBR1 c.1024+24G>A - IntronicSNV - 6/7
15-67476986-C-T SMAD3 c.872-79C>T - IntronicSNV - 6/8
14-76447049-G-T TGFB3 c.188C>A p.Thr63Asn Missense 1/7 -
1-92185136-C-A TGFBR3 c.1414-115G>T - IntronicSNV - 9/16
14-76429555-C-T TGFB3 c.926+104G>A - IntronicSNV - 5/6
1-92200376-G-A TGFBR3 c.525C>T p.Thr175Thr Synonymous 5/17 -
15-67476952-G-T SMAD3 c.872-113G>T - IntronicSNV - 6/8
18-48575389-T-C SMAD4 c.424+159T>C - IntronicSNV - 3/11
15-67358478-G-A SMAD3 c.1-15G>A - 5-UTRSNV 1/9 -
14-76432136-T-C TGFB3 c.647-98A>G - IntronicSNV - 3/6
14-76447049-G-A TGFB3 c.188C>T p.Thr63Ile Missense 1/7 -
1-92178260-A-G TGFBR3 c.1867-161T>C - IntronicSNV - 12/16
19-41838206-G-T TGFB1 c.861-20C>A - IntronicSNV - 5/6
19-41838206-G-A TGFB1 c.861-20C>T - IntronicSNV - 5/6
19-41838206-G-C TGFB1 c.861-20C>G - IntronicSNV - 5/6
3-30713945-T-C TGFBR2 c.1329+16T>C - IntronicSNV - 5/7
1-92163786-G-T TGFBR3 c.2288-99C>A - IntronicSNV - 14/16
14-76437409-C-A TGFB3 c.646+60G>T - IntronicSNV - 3/6
14-76437817-C-T TGFB3 c.516+81G>A - IntronicSNV - 2/6
15-67476970-T-C SMAD3 c.872-95T>C - IntronicSNV - 6/8
18-45394919-T-C SMAD2 c.521-91A>G - IntronicSNV - 4/10
14-76427103-A-G TGFB3 c.1080+163T>C - IntronicSNV - 6/6
19-41837997-C-G TGFB1 c.1014+36G>C - IntronicSNV - 6/6
19-41837123-C-T TGFB1 c.1015-8G>A - IntronicSNV - 6/6
1-92149277-C-G TGFBR3 c.*19G>C - 3-UTRSNV 17/17 -
1-92174415-G-A TGFBR3 c.2167-75C>T - IntronicSNV - 13/16
14-76438137-C-G TGFB3 c.353-76G>C - IntronicSNV - 1/6
18-48581215-C-A SMAD4 c.519C>A p.Ser173Ser Synonymous 5/12 -
18-48581215-C-G SMAD4 c.519C>G p.Ser173Ser Synonymous 5/12 -
18-48581215-C-T SMAD4 c.519C>T p.Ser173Ser Synonymous 5/12 -
1-92149277-C-T TGFBR3 c.*19G>A - 3-UTRSNV 17/17 -
18-45371623-T-C SMAD2 c.1280+88A>G - IntronicSNV - 10/10
1-92185715-A-G TGFBR3 c.1148T>C p.Leu383Pro Missense 9/17 -
18-48593617-T-C SMAD4 c.1308+60T>C - IntronicSNV - 10/11
1-92185621-A-G TGFBR3 c.1242T>C p.Asn414Asn Synonymous 9/17 -
19-41850710-C-T TGFB1 c.576G>A p.Ser192Ser Synonymous 3/7 -
18-48584863-T-G SMAD4 c.904+37T>G - IntronicSNV - 7/11
1-92200513-A-C TGFBR3 c.388T>G p.Ser130Ala Missense 5/17 -
15-67391336-C-T SMAD3 c.206+32638C>T - IntronicSNV - 1/8
18-48577782-G-A SMAD4 c.454+2088G>A - IntronicSNV - 4/11
3-30664864-T-C TGFBR2 c.169+99T>C - IntronicSNV - 2/7
1-92327126-C-T TGFBR3 c.1-38G>A - 5-UTRSNV 2/17 -
19-41837997-C-A TGFB1 c.1014+36G>T - IntronicSNV - 6/6
18-45368457-C-T SMAD2 c.1281-136G>A - IntronicSNV - 10/10
15-67457807-C-T SMAD3 c.532+85C>T - IntronicSNV - 3/8
1-92184814-G-A TGFBR3 c.1566+55C>T - IntronicSNV - 10/16
1-92200520-G-C TGFBR3 c.385-4C>G - IntronicSNV - 4/16
1-92200597-G-A TGFBR3 c.385-81C>T - IntronicSNV - 4/16
1-92184744-C-T TGFBR3 c.1566+125G>A - IntronicSNV - 10/16
19-41838287-C-T TGFB1 c.861-101G>A - IntronicSNV - 5/6
3-30732821-C-A TGFBR2 c.1600-91C>A - IntronicSNV - 7/7
15-67457335-A-T SMAD3 c.309A>T p.Leu103Leu Synonymous 2/9 -
15-67391497-C-A SMAD3 c.206+32799C>A - IntronicSNV - 1/8
15-67473847-C-T SMAD3 c.871+56C>T - IntronicSNV - 6/8
1-92200593-A-T TGFBR3 c.385-77T>A - IntronicSNV - 4/16
15-67391319-C-T SMAD3 c.206+32621C>T - IntronicSNV - 1/8
15-67358470-C-T SMAD3 c.1-23C>T - 5-UTRSNV 1/9 -
19-41854400-C-G TGFB1 c.356-40G>C - IntronicSNV - 1/6
1-92195601-G-A TGFBR3 c.569-71C>T - IntronicSNV - 5/16
1-92200634-C-T TGFBR3 c.385-118G>A - IntronicSNV - 4/16
19-41858921-G-A TGFB1 c.29C>T p.Pro10Leu Missense 1/7 -
19-41858921-G-C TGFB1 c.29C>G p.Pro10Arg Missense 1/7 -
18-45371791-C-T SMAD2 c.1200G>A p.Gln400Gln Synonymous 10/11 -
18-45423045-G-A SMAD2 c.83C>T p.Ala28Val Missense 2/11 -
15-67482696-A-G SMAD3 c.1155-55A>G - IntronicSNV - 8/8
15-67358365-C-G SMAD3 c.1-128C>G - 5-UTRSNV 1/9 -
1-218607817-G-T TGFB2 c.754+27G>T - IntronicSNV - 4/6
1-92200627-T-A TGFBR3 c.385-111A>T - IntronicSNV - 4/16
15-67459013-C-T SMAD3 c.533-104C>T - IntronicSNV - 3/8
15-67457485-G-C SMAD3 c.400+59G>C - IntronicSNV - 2/8
15-67457485-G-T SMAD3 c.400+59G>T - IntronicSNV - 2/8
14-76437638-C-A TGFB3 c.517-40G>T - IntronicSNV - 2/6
14-76437638-C-G TGFB3 c.517-40G>C - IntronicSNV - 2/6
18-48573604-CA-AC SMAD4 c.188_189delCAinsAC p.Thr63Asn Missense 2/12 -
15-67457840-G-A SMAD3 c.532+118G>A - IntronicSNV - 3/8
18-45394653-G-T SMAD2 c.655+41C>A - IntronicSNV - 5/10
14-76429868-A-G TGFB3 c.755-38T>C - IntronicSNV - 4/6
9-101890294-A-G TGFBR1 c.98-843A>G - IntronicSNV - 1/7
19-41858838-T-G TGFB1 c.112A>C p.Met38Leu Missense 1/7 -
19-41858838-T-A TGFB1 c.112A>T p.Met38Leu Missense 1/7 -
18-48591860-T-A SMAD4 c.1023T>A p.Val341Val Synonymous 9/12 -
15-67457333-C-T SMAD3 c.307C>T p.Leu103Leu Synonymous 2/9 -
1-92224347-G-A TGFBR3 c.247-40C>T - IntronicSNV - 3/16
18-45375054-T-C SMAD2 c.789A>G p.Leu263Leu Synonymous 8/11 -
1-92184814-G-C TGFBR3 c.1566+55C>G - IntronicSNV - 10/16
1-92200382-T-C TGFBR3 c.519A>G p.Ser173Ser Synonymous 5/17 -
9-101900410-A-G TGFBR1 c.574+39A>G - IntronicSNV - 3/7
3-30664732-A-C TGFBR2 c.136A>C p.Ser46Arg Missense 2/8 -
19-41838174-C-T TGFB1 c.873G>A p.Lys291Lys Synonymous 6/7 -
15-67457335-A-C SMAD3 c.309A>C p.Leu103Leu Synonymous 2/9 -
15-67457335-A-G SMAD3 c.309A>G p.Leu103Leu Synonymous 2/9 -
1-92177740-C-T TGFBR3 c.2166+60G>A - IntronicSNV - 13/16
1-92195652-T-C TGFBR3 c.569-122A>G - IntronicSNV - 5/16
19-41847956-G-A TGFB1 c.713-21C>T - IntronicSNV - 4/6
1-92185136-C-T TGFBR3 c.1414-115G>A - IntronicSNV - 9/16
14-76431886-T-C TGFB3 c.754+45A>G - IntronicSNV - 4/6
14-76437638-C-T TGFB3 c.517-40G>A - IntronicSNV - 2/6