PMID: 25389433

Identification of rare variants in Alzheimer's disease.

Frontiers in genetics
Lord, Jenny J, Lu, Alexander J AJ, Cruchaga, Carlos C
2014

18 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
15-58892675-T-C ADAM10 c.2026-752A>G - IntronicSNV - 14/15
15-58903083-A-G ADAM10 c.1804+115T>C - IntronicSNV - 13/15
19-40877595-G-A PLD3 c.694G>A p.V232M Missense 9/13 -
4-96091431-G-A UNC5C c.2504C>T p.T835M Missense 15/16 -
4-96469926-A-G UNC5C c.83T>C p.L28P Missense 1/16 -
19-45412314-T-A APOE c.761T>A p.V254E Missense 4/4 -
19-45411110-T-C APOE c.137T>C p.L46P Missense 3/4 -
7-91709085-A-G AKAP9 c.7638A>G p.I2546M Missense 31/50 -
15-58903083-A-T ADAM10 c.1804+115T>A - IntronicSNV - 13/15
15-58957371-C-A ADAM10 c.510G>T p.Q170H Missense 5/16 -
15-58957371-C-G ADAM10 c.510G>C p.Q170H Missense 5/16 -
14-73659510-T-A PSEN1 c.707T>A p.V236E Missense 7/12 -
19-40883933-G-A PLD3 c.1326G>A p.A442= Synonymous 13/13 -
19-40883933-G-C PLD3 c.1326G>C p.A442= Synonymous 13/13 -
19-40883933-G-T PLD3 c.1326G>T p.A442= Synonymous 13/13 -
7-91714911-C-T AKAP9 c.8935C>T p.P2979S Missense 36/50 -
7-91732110-C-T AKAP9 c.11300C>T p.S3767L Missense 46/50 -
19-45412040-C-T APOE c.487C>T p.R163C Missense 4/4 -