31557 RESULTS
MUTATIONS SORL1 121498378 GRCh37/hg19 rs372203239 C G Exon 47 Coding Unknown. Unknown. T2160R Alzheimer's Disease In a study that included 15,808 Alzheimer’s cases and 16,097 control subjects from multiple European and American cohorts, this allele was observe
MUTATIONS SORL1 121498378 GRCh37/hg19 rs372203239 C T Exon 47 Coding Unknown; predicted to be tolerated by SIFT and benign by PolyPhen-2, but deleterious by Mutation Taster. Unknown. T2160M Alzheimer's Disease In a Dutch sample of 640 Alzheimer’s cases and 126
MUTATIONS SORL1 121498387 GRCh37/hg19 G- Exon 47 Coding This single-nucleotide deletion results in a frameshift leading to a premature stop codon. Unknown. R2164Gfs Alzheimer's Disease This variant was identified in a family- and cohort-based study of Caribbea
MUTATIONS SORL1 121490565 GRCh37/hg19 rs760195851 C T Exon 43 Coding Unknown. Unknown. T1943M Alzheimer's Disease In a study that included 15,808 Alzheimer’s cases and 16,097 control subjects from multiple European and American cohorts, this allele was observe
MUTATIONS SORL1 121490568-121490569 GRCh37/hg19 GC-- Exon 43 Coding This two-nucleotide deletion results in a frameshift and is predicted to be protein-truncating. Unknown. G1944Efs Alzheimer's Disease In a French cohort of 927 late-onset Alzheimer’s disease c
MUTATIONS SORL1 121491836 GRCh37/hg19 rs756155366 C T Exon 44 Coding Unknown; predicted to be deleterious by SIFT and Mutation Taster, but benign by PolyPhen-2. Unknown. R1985C Alzheimer's Disease In a study that included 15,808 Alzheimer’s cases and 16,097 co
MUTATIONS SORL1 121491923 GRCh37/hg19 G A Exon 44 Coding Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2. Unknown. D2014N Alzheimer's Disease In a pan-European cohort of 1255 Alzheimer’s cases and 1938 controls fro
MUTATIONS SORL1 121494089 GRCh37/hg19 rs17125561 C T Intron 45 Non-Coding c.6171+1112C>T Alzheimer's Disease
MUTATIONS SORL1 121495826 GRCh37/hg19 G A Exon 46 Coding Unknown. Unknown. M2068I Alzheimer's Disease In a study that included 18,959 Alzheimer’s cases and 21,893 control subjects from multiple European and American cohorts, this allele was observed once among
MUTATIONS SORL1 121495879 GRCh37/hg19 A C Exon 46 Coding Unknown. Unknown. N2086T Alzheimer's Disease In a study that included 15,808 Alzheimer’s cases and 16,097 control subjects from multiple European and American cohorts, this allele was observed once among
MUTATIONS SORL1 121495879 GRCh37/hg19 A T Exon 46 Coding Unknown. Unknown. N2086I Alzheimer's Disease In a study that included 15,808 Alzheimer’s cases and 16,097 control subjects from multiple European and American cohorts, this allele was observed once among
MUTATIONS SORL1 121495891 GRCh37/hg19 rs757932934 G T Exon 46 Coding Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2. Unknown. G2090V Alzheimer's Disease In a study that included 15,808 Alzheimer’s cases and 16,097 control subject
MUTATIONS SORL1 121498452 GRCh37/hg19 A G Exon 47 Coding Unknown. Unknown. I2185V Alzheimer's Disease In a study that included 18,959 Alzheimer’s cases and 21,893 control subjects from multiple European and American cohorts, this allele was observed once among
MUTATIONS SORL1 121490572 GRCh37/hg19 A C Exon 43 Coding Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2. Unknown. K1945N Alzheimer's Disease This variant was found in one Alzheimer’s disease subject in a sample of
MUTATIONS SORL1 121492903 GRCh37/hg19 A G Exon 45 Coding Unknown. Unknown. I2033V Alzheimer's Disease In a study that included 15,808 Alzheimer’s cases and 16,097 control subjects from multiple European and American cohorts, this allele was observed once among
