MUTATIONS SORL1 121495855 GRCh37/hg19 C T Exon 46 Coding Unknown. Unknown. T2078I 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 121495857 GRCh37/hg19 G A Exon 46 Coding Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2. Unknown. D2079N Alzheimer's Disease In a study that included 15,808 Alzheimer’s cases and 16,097 control subjects from multi
MUTATIONS SORL1 121492871 GRCh37/hg19 T C Exon 44/45 Coding Unknown. Unknown. V2022A 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 four ti
MUTATIONS SORL1 121495833 GRCh37/hg19 rs374388546 A G Exon 46 Coding Unknown. Unknown. T2071A 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 121495837 GRCh37/hg19 rs376084159 C T Exon 46 Coding Unknown; predicted to be deleterious by SIFT and Mutation Taster, but benign by PolyPhen-2. Unknown. A2072V Alzheimer's Disease This variant was found in one Alzheimer’s disease subject in a
MUTATIONS SORL1 121495841 GRCh37/hg19 C G Exon 46 Coding Introduces a premature stop codon. Unknown. Y2073Ter Alzheimer's Disease This mutation introduces a premature termination codon at amino acid 2073. In a study that included 15,808 Alzheimer’s cases and 1
MUTATIONS SORL1 121495846 GRCh37/hg19 rs143554336 G C Exon 46 Coding Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2. Unknown. G2075A Alzheimer's Disease In a study that included 15,808 Alzheimer’s cases and 16,097
MUTATIONS SORL1 121492891 GRCh37/hg19 rs533204629 G A Exon 45 Coding Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2. Unknown. A2029T Alzheimer's Disease The variant was found in one of 5198 Alzheimer's cases
MUTATIONS SORL1 121492937 GRCh37/hg19 A G Exon 45 Coding Unknown. Unknown. K2044R Alzheimer's Disease This variant, in heterozygosity, was identified in a Hungarian man diagnosed with early onset Alzheimer's disease (Csaban et al., 2022). Cognitive defici
MUTATIONS SORL1 121495817 GRCh37/hg19 T G Exon 46 Coding Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2. Unknown. D2065E Alzheimer's Disease The variant was found in one of 4491 controls but none of 5198 Alzheimer
MUTATIONS SORL1 121495824 GRCh37/hg19 rs924880626 A G Exon 46 Coding Unknown; predicted tolerated in silico. Unknown. M2068V 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
MUTATIONS SORL1 121495890 GRCh37/hg19 G T Exon 46 Coding Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2. Unknown. G2090C Alzheimer's Disease In a pan-European cohort of 1255 Alzheimer’s cases and 1938 controls from the European E
MUTATIONS SORL1 121491909 GRCh37/hg19 G A Exon 44 Coding Unknown. Unknown. G2009E 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 121491914 GRCh37/hg19 A G Exon 44 Coding Unknown. Unknown. M2011V 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 121491918 GRCh37/hg19 G C Exon 44 Coding Unknown. Unknown. S2012T 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