31795 RESULTS
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MUTATIONS SORL1 121498410 GRCh37/hg19 rs146742626 G A Exon 47 Coding Unknown; predicted deleterious in silico. Unknown. A2171T Alzheimer's Disease The variant was found in two of 5198 Alzheimer's cases and none of 4491 controls in a dataset from the Alzhe
MUTATIONS SORL1 121498441 GRCh37/hg19 T C Exon 47 Coding Unknown. Unknown. L2181P 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 121498449 GRCh37/hg19 rs369618646 G A Exon 47 Coding Unknown. Unknown. A2184T 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 121495940 GRCh37/hg19 rs149393026 G A Exon 46 Coding Unknown; predicted to be tolerated by SIFT, neutral by PROVEAN, and disease-causing by Mutation Taster. Unknown. Q2106Q Alzheimer's Disease In a Dutch sample of 640 Alzheimer’s cases and 1268
MUTATIONS SORL1 121498290 GRCh37/hg19 G A Exon 47 Coding Unknown; predicted tolerated in silico. Unknown. A2131T Alzheimer's Disease A heterozygous carrier was found in a sample of 117 Saudi Arabian Alzheimer’s cases (El Bitar et al., 2019). GCC ACC 2131
MUTATIONS SORL1 121498334 GRCh37/hg19 C A Exon 47 Coding Unknown. Unknown. F2145L 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 121498368 GRCh37/hg19 A G Exon 47 Coding Unknown. Unknown. I2157V 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 twice amon
MUTATIONS SORL1 121498373 GRCh37/hg19 rs140007815 G A Exon 47 Coding Unknown. Unknown. L2158L Alzheimer's Disease In a Dutch sample of 640 Alzheimer’s cases and 1268 controls, a 64-year-old AD patient was found to be a heterozygous carrier of this synonymous v
MUTATIONS SORL1 121323477 GRCh37/hg19 rs578506 G C Intron 1 Non-Coding c.285+152G>C Alzheimer's Disease
MUTATIONS SORL1 121495894 GRCh37/hg19 A G Exon 46 Coding Unknown. Unknown. H2091R 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 121495901 GRCh37/hg19 C G Exon 46 Coding Introduces a premature stop codon. Unknown. Y2093Ter Alzheimer's Disease This protein-truncating variant was identified in a subject from the Centre National de Référence Malades Alzheimer Jeunes (CNR-MA
MUTATIONS SORL1 121495903 GRCh37/hg19 C T Exon 46 Coding Unknown. Unknown. T2094M 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 121495909 GRCh37/hg19 C T Exon 46 Coding Unknown. Unknown. T2096I 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 121495971 GRCh37/hg19 rs144806633 G A Exon 46 Coding Unknown; predicted to be deleterious by Mutation Taster, but tolerated/benign by SIFT and PolyPhen-2. Unknown. D2117N Alzheimer's Disease The variant was found in one of 5198 Alzheimer's
MUTATIONS SORL1 121498285 GRCh37/hg19 rs148532757 A G Exon 47 Coding Unknown; predicted tolerated in silico. Unknown. Q2129R Alzheimer's Disease The variant was found in one of 5198 Alzheimer's cases and none of 4491 controls in a dataset from the Alzheim
