PMID: 19218192

Genetic risk factors for portopulmonary hypertension in patients with advanced liver disease.

American journal of respiratory and critical care medicine
KE Roberts, MB Fallon, MJ Krowka, RS Brown, JF Trotter, I Peter, H Tighiouart, JA Knowles, D Rabinowitz, RL Benza, DB Badesch, DB Taichman, EM Horn, S Zacks, N Kaplowitz, SM Kawut,
2009-05-01

30 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
15-51646737-G-A GLDN c.363+12493G>A - IntronicSNV - 1/9
3-25544118-G-A RARB c.448+1304G>A - IntronicSNV - 3/7
2-31576074-C-G XDH c.2632-2985G>C - IntronicSNV - 24/35
6-160103084-C-T SOD2 c.*441G>A - 3-UTRSNV 5/5 -
11-65423220-G-T RELA c.972C>A p.Pro324Pro Synonymous 10/11 -
15-67377490-T-C SMAD3 c.206+18792T>C - IntronicSNV - 1/8
6-152317140-T-A ESR1 c.1097-15651T>A - IntronicSNV - 4/7
4-120427844-T-C PDE5A c.2190-757A>G - IntronicSNV - 16/20
7-116167208-C-T CAV1 c.195+465C>T - IntronicSNV - 2/2
7-116167208-C-A CAV1 c.195+465C>A - IntronicSNV - 2/2
3-25512768-A-T RARB c.306+9936A>T - IntronicSNV - 2/7
11-65423220-G-C RELA c.972C>G p.Pro324Pro Synonymous 10/11 -
11-65423220-G-A RELA c.972C>T p.Pro324Pro Synonymous 10/11 -
15-67376000-C-T SMAD3 c.206+17302C>T - IntronicSNV - 1/8
6-152208722-A-G ESR1 c.760+6816A>G - IntronicSNV - 3/7
15-51611654-A-T CYP19A1 c.-39+19038T>A - intron_variant - 1/9
4-120478696-T-G PDE5A c.1199+2755A>C - IntronicSNV - 7/20
6-152304596-A-G ESR1 c.1097-28195A>G - IntronicSNV - 4/7
6-152278741-C-T ESR1 c.1096+13098C>T - IntronicSNV - 4/7
4-120455649-A-G PDE5A c.1632+4466T>C - IntronicSNV - 11/20
8-108408409-A-C ANGPT1 c.298-49084T>G - IntronicSNV - 1/8
8-108301798-G-T ANGPT1 c.1038+4366C>A - IntronicSNV - 6/8
7-100781909-C-T SERPINE1 c.*1186C>T - 3-UTRSNV 9/9 -
6-152371190-C-T ESR1 c.1236-10936C>T - IntronicSNV - 5/7
6-152286625-T-C ESR1 c.1096+20982T>C - IntronicSNV - 4/7
6-152286625-T-A ESR1 c.1096+20982T>A - IntronicSNV - 4/7
4-26323918-G-C RBPJ c.20+1248G>C - IntronicSNV - 1/10
6-152371190-C-A ESR1 c.1236-10936C>A - IntronicSNV - 5/7
4-120450159-A-C PDE5A c.1633-3309T>G - IntronicSNV - 11/20
17-26105932-G-A NOS2 c.1155C>T p.Asp385Asp Synonymous 10/27 -