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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs429358

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr19:44908684 (GRCh38.p12) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.138498 (23502/169692, GnomAD_exome)
C=0.155597 (19538/125568, TOPMED)
C=0.00000 (0/78676, PAGE_STUDY) (+ 15 more)
C=0.03702 (1624/43872, ALFA Project)
C=0.16444 (5135/31228, GnomAD)
C=0.18433 (5332/28926, ExAC)
C=0.1506 (754/5008, 1000G)
C=0.1246 (558/4480, Estonian)
C=0.1539 (593/3854, ALSPAC)
C=0.1397 (518/3708, TWINSUK)
C=0.0917 (268/2922, KOREAN)
C=0.0956 (170/1778, Korea1K)
C=0.148 (89/600, NorthernSweden)
C=0.106 (23/216, Qatari)
C=0.014 (3/208, HapMap)
T=0.468 (74/158, SGDP_PRJ)
C=0.23 (9/40, GENOME_DK)
T=0.2 (1/4, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
APOE : Missense Variant
Publications
389 citations
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p12 chr 19 NC_000019.10:g.44908684T>C
GRCh37.p13 chr 19 NC_000019.9:g.45411941T>C
APOE RefSeqGene NG_007084.2:g.7903T>C
Gene: APOE, apolipoprotein E (plus strand)
Molecule type Change Amino acid[Codon] SO Term
APOE transcript variant 4 NM_001302690.1:c.388T>C C [TGC] > R [CGC] Coding Sequence Variant
apolipoprotein E isoform b precursor NP_001289619.1:p.Cys130Arg C (Cys) > R (Arg) Missense Variant
APOE transcript variant 2 NM_000041.4:c.388T>C C [TGC] > R [CGC] Coding Sequence Variant
apolipoprotein E isoform b precursor NP_000032.1:p.Cys130Arg C (Cys) > R (Arg) Missense Variant
APOE transcript variant 3 NM_001302689.2:c.388T>C C [TGC] > R [CGC] Coding Sequence Variant
apolipoprotein E isoform b precursor NP_001289618.1:p.Cys130Arg C (Cys) > R (Arg) Missense Variant
APOE transcript variant 1 NM_001302688.2:c.466T>C C [TGC] > R [CGC] Coding Sequence Variant
apolipoprotein E isoform a precursor NP_001289617.1:p.Cys156Arg C (Cys) > R (Arg) Missense Variant
APOE transcript variant 5 NM_001302691.2:c.388T>C C [TGC] > R [CGC] Coding Sequence Variant
apolipoprotein E isoform b precursor NP_001289620.1:p.Cys130Arg C (Cys) > R (Arg) Missense Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: T= (allele ID: 682795 )
ClinVar Accession Disease Names Clinical Significance
RCV000019447.31 APOE3 ISOFORM Pathogenic
RCV000856604.2 Alzheimer disease 3, protection against, due to APOE3-Christchurch Protective
Allele: C (allele ID: 32903 )
ClinVar Accession Disease Names Clinical Significance
RCV000019438.29 Familial type 3 hyperlipoproteinemia Pathogenic
RCV000019448.33 Alzheimer disease 2 Pathogenic
RCV000019455.32 Familial type 3 hyperlipoproteinemia Pathogenic
RCV000019456.28 APOE4(-)-FREIBURG Pathogenic
RCV000019458.26 APOE5 VARIANT Association
RCV000292119.3 not provided Other,Risk-Factor
RCV000825286.1 not specified Uncertain-Significance
RCV000826089.1 Primary degenerative dementia of the Alzheimer type, presenile onset Risk-Factor
RCV000845581.1 Warfarin response Drug-Response
RCV000991302.1 Alzheimer disease Likely-Pathogenic

ALFA Allele Frequency (New)
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20200227123210
Population Group Sample Size Ref Allele Alt Allele
Total Global 43872 T=0.96298 C=0.03702
European Sub 35238 T=0.96439 C=0.03561
African Sub 2102 T=0.9524 C=0.0476
African Others Sub 76 T=0.93 C=0.07
African American Sub 2026 T=0.9531 C=0.0469
Asian Sub 118 T=0.941 C=0.059
East Asian Sub 82 T=0.95 C=0.05
Other Asian Sub 36 T=0.92 C=0.08
Latin American 1 Sub 342 T=1.000 C=0.000
Latin American 2 Sub 20 T=1.00 C=0.00
South Asian Sub 58 T=1.00 C=0.00
Other Sub 5994 T=0.9563 C=0.0437


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 169692 T=0.861502 C=0.138498
gnomAD - Exomes European Sub 84828 T=0.83859 C=0.16141
gnomAD - Exomes Asian Sub 36686 T=0.90389 C=0.09611
gnomAD - Exomes American Sub 25874 T=0.89739 C=0.10261
gnomAD - Exomes African Sub 9082 T=0.7762 C=0.2238
gnomAD - Exomes Ashkenazi Jewish Sub 8558 T=0.8850 C=0.1150
gnomAD - Exomes Other Sub 4664 T=0.8688 C=0.1312
TopMed Global Study-wide 125568 T=0.844403 C=0.155597
The PAGE Study Global Study-wide 78676 T=1.00000 C=0.00000
The PAGE Study AfricanAmerican Sub 32502 T=1.00000 C=0.00000
The PAGE Study Mexican Sub 10806 T=1.00000 C=0.00000
The PAGE Study Asian Sub 8316 T=1.0000 C=0.0000
The PAGE Study PuertoRican Sub 7918 T=1.0000 C=0.0000
The PAGE Study NativeHawaiian Sub 4532 T=1.0000 C=0.0000
The PAGE Study Cuban Sub 4230 T=1.0000 C=0.0000
The PAGE Study Dominican Sub 3826 T=1.0000 C=0.0000
The PAGE Study CentralAmerican Sub 2450 T=1.0000 C=0.0000
The PAGE Study SouthAmerican Sub 1980 T=1.0000 C=0.0000
The PAGE Study NativeAmerican Sub 1260 T=1.0000 C=0.0000
The PAGE Study SouthAsian Sub 856 T=1.000 C=0.000
ALFA Total Global 43872 T=0.96298 C=0.03702
ALFA European Sub 35238 T=0.96439 C=0.03561
ALFA Other Sub 5994 T=0.9563 C=0.0437
ALFA African Sub 2102 T=0.9524 C=0.0476
ALFA Latin American 1 Sub 342 T=1.000 C=0.000
ALFA Asian Sub 118 T=0.941 C=0.059
ALFA South Asian Sub 58 T=1.00 C=0.00
ALFA Latin American 2 Sub 20 T=1.00 C=0.00
gnomAD - Genomes Global Study-wide 31228 T=0.83556 C=0.16444
gnomAD - Genomes European Sub 18812 T=0.84898 C=0.15102
gnomAD - Genomes African Sub 8662 T=0.7878 C=0.2122
gnomAD - Genomes East Asian Sub 1538 T=0.9031 C=0.0969
gnomAD - Genomes Other Sub 1084 T=0.8404 C=0.1596
gnomAD - Genomes American Sub 844 T=0.877 C=0.123
gnomAD - Genomes Ashkenazi Jewish Sub 288 T=0.896 C=0.104
ExAC Global Study-wide 28926 T=0.81567 C=0.18433
ExAC Europe Sub 15272 T=0.78719 C=0.21281
ExAC Asian Sub 9820 T=0.8855 C=0.1145
ExAC African Sub 2496 T=0.7268 C=0.2732
ExAC American Sub 1086 T=0.7855 C=0.2145
ExAC Other Sub 252 T=0.829 C=0.171
1000Genomes Global Study-wide 5008 T=0.8494 C=0.1506
1000Genomes African Sub 1322 T=0.7322 C=0.2678
1000Genomes East Asian Sub 1008 T=0.9137 C=0.0863
1000Genomes Europe Sub 1006 T=0.8449 C=0.1551
1000Genomes South Asian Sub 978 T=0.913 C=0.087
1000Genomes American Sub 694 T=0.896 C=0.104
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.8754 C=0.1246
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.8461 C=0.1539
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.8603 C=0.1397
KOREAN population from KRGDB KOREAN Study-wide 2922 T=0.9083 C=0.0917
Korean Genome Project KOREAN Study-wide 1778 T=0.9044 C=0.0956
Northern Sweden ACPOP Study-wide 600 T=0.852 C=0.148
Qatari Global Study-wide 216 T=0.894 C=0.106
HapMap Global Study-wide 208 T=0.986 C=0.014
HapMap African Sub 120 T=0.983 C=0.017
HapMap Asian Sub 88 T=0.99 C=0.01
SGDP_PRJ Global Study-wide 158 T=0.468 C=0.532
The Danish reference pan genome Danish Study-wide 40 T=0.78 C=0.23
Siberian Global Study-wide 4 T=0.2 C=0.8
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement T= C
GRCh38.p12 chr 19 NC_000019.10:g.44908684= NC_000019.10:g.44908684T>C
GRCh37.p13 chr 19 NC_000019.9:g.45411941= NC_000019.9:g.45411941T>C
APOE RefSeqGene NG_007084.2:g.7903= NG_007084.2:g.7903T>C
APOE transcript variant 2 NM_000041.4:c.388= NM_000041.4:c.388T>C
APOE transcript variant 2 NM_000041.3:c.388= NM_000041.3:c.388T>C
APOE transcript NM_000041.2:c.388= NM_000041.2:c.388T>C
APOE transcript variant 1 NM_001302688.2:c.466= NM_001302688.2:c.466T>C
APOE transcript variant 1 NM_001302688.1:c.466= NM_001302688.1:c.466T>C
APOE transcript variant 5 NM_001302691.2:c.388= NM_001302691.2:c.388T>C
APOE transcript variant 5 NM_001302691.1:c.388= NM_001302691.1:c.388T>C
APOE transcript variant 3 NM_001302689.2:c.388= NM_001302689.2:c.388T>C
APOE transcript variant 3 NM_001302689.1:c.388= NM_001302689.1:c.388T>C
APOE transcript variant 4 NM_001302690.1:c.388= NM_001302690.1:c.388T>C
apolipoprotein E isoform b precursor NP_000032.1:p.Cys130= NP_000032.1:p.Cys130Arg
apolipoprotein E isoform a precursor NP_001289617.1:p.Cys156= NP_001289617.1:p.Cys156Arg
apolipoprotein E isoform b precursor NP_001289620.1:p.Cys130= NP_001289620.1:p.Cys130Arg
apolipoprotein E isoform b precursor NP_001289618.1:p.Cys130= NP_001289618.1:p.Cys130Arg
apolipoprotein E isoform b precursor NP_001289619.1:p.Cys130= NP_001289619.1:p.Cys130Arg
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

168 SubSNP, 18 Frequency, 12 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss569295 Jul 16, 2000 (80)
2 SC_JCM ss803061 Aug 11, 2000 (85)
3 DEBNICK ss870163 Oct 04, 2000 (86)
4 HGBASE ss2419938 Nov 14, 2000 (89)
5 CUORCGL ss12568607 Aug 26, 2003 (117)
6 CGAP-GAI ss16231123 Feb 27, 2004 (120)
7 SSAHASNP ss21518782 Apr 05, 2004 (121)
8 SEQUENOM ss24811489 Sep 20, 2004 (123)
9 ABI ss44158325 Mar 14, 2006 (126)
10 SI_EXO ss76884559 Dec 06, 2007 (129)
11 KRIBB_YJKIM ss80743998 Dec 16, 2007 (130)
12 HUMANGENOME_JCVI ss96308980 Feb 06, 2009 (130)
13 RSG_UW ss107936537 Feb 06, 2009 (130)
14 ENSEMBL ss132769779 Dec 01, 2009 (131)
15 SEATTLESEQ ss159740185 Dec 01, 2009 (131)
16 ILLUMINA ss160670648 Dec 01, 2009 (131)
17 COMPLETE_GENOMICS ss168243995 Jul 04, 2010 (132)
18 PAGE_STUDY ss181341884 Jul 04, 2010 (132)
19 1000GENOMES ss228156553 Jul 14, 2010 (132)
20 1000GENOMES ss237689596 Jul 15, 2010 (132)
21 OMICIA ss244239676 May 27, 2010 (132)
22 OMIM-CURATED-RECORDS ss275517967 Dec 03, 2010 (133)
23 ILLUMINA ss410828263 Sep 17, 2011 (135)
24 PAGE_STUDY ss469414605 May 04, 2012 (137)
25 ILLUMINA ss481897219 Sep 08, 2015 (146)
26 ILLUMINA ss483834108 May 04, 2012 (137)
27 ILLUMINA ss484318107 May 04, 2012 (137)
28 1000GENOMES ss491161751 May 04, 2012 (137)
29 EXOME_CHIP ss491549548 May 04, 2012 (137)
30 ILLUMINA ss536501696 Sep 08, 2015 (146)
31 NCBI-CURATED-RECORDS ss537712916 Jan 04, 2013 (137)
32 SSMP ss661874596 Apr 25, 2013 (138)
33 NHLBI-ESP ss713519649 Apr 25, 2013 (138)
34 ILLUMINA ss780608662 Aug 21, 2014 (142)
35 ILLUMINA ss782605255 Aug 21, 2014 (142)
36 ILLUMINA ss836101974 Aug 21, 2014 (142)
37 JMKIDD_LAB ss974506672 Aug 21, 2014 (142)
38 EVA-GONL ss994339187 Aug 21, 2014 (142)
39 JMKIDD_LAB ss1067590770 Aug 21, 2014 (142)
40 1000GENOMES ss1363326184 Aug 21, 2014 (142)
41 EVA_GENOME_DK ss1578653635 Apr 01, 2015 (144)
42 EVA_UK10K_ALSPAC ss1638043657 Apr 01, 2015 (144)
43 EVA_UK10K_TWINSUK ss1681037690 Apr 01, 2015 (144)
44 EVA_EXAC ss1693665397 Apr 01, 2015 (144)
45 EVA_DECODE ss1698394130 Apr 01, 2015 (144)
46 WEILL_CORNELL_DGM ss1937835821 Feb 12, 2016 (147)
47 ILLUMINA ss1959869660 Feb 12, 2016 (147)
48 ILLUMINA ss1959869661 Feb 12, 2016 (147)
49 ILLUMINA ss1959869662 Feb 12, 2016 (147)
50 ILLUMINA ss1959869663 Feb 12, 2016 (147)
51 ILLUMINA ss1959869665 Feb 12, 2016 (147)
52 ILLUMINA ss1959869666 Feb 12, 2016 (147)
53 ILLUMINA ss1959869667 Feb 12, 2016 (147)
54 ILLUMINA ss1959869668 Feb 12, 2016 (147)
55 ILLUMINA ss1959869669 Feb 12, 2016 (147)
56 ILLUMINA ss1959869670 Feb 12, 2016 (147)
57 ILLUMINA ss1959869671 Feb 12, 2016 (147)
58 ILLUMINA ss1959869672 Feb 12, 2016 (147)
59 ILLUMINA ss1959869673 Feb 12, 2016 (147)
60 ILLUMINA ss1959869675 Feb 12, 2016 (147)
61 ILLUMINA ss1959869676 Feb 12, 2016 (147)
62 ILLUMINA ss1959869677 Feb 12, 2016 (147)
63 ILLUMINA ss1959869678 Feb 12, 2016 (147)
64 ILLUMINA ss1959869679 Feb 12, 2016 (147)
65 ILLUMINA ss1959869680 Feb 12, 2016 (147)
66 JJLAB ss2029695318 Sep 14, 2016 (149)
67 ILLUMINA ss2095085222 Dec 20, 2016 (150)
68 USC_VALOUEV ss2158238082 Dec 20, 2016 (150)
69 HUMAN_LONGEVITY ss2226012248 Dec 20, 2016 (150)
70 TOPMED ss2391820667 Dec 20, 2016 (150)
71 ILLUMINA ss2633544198 Nov 08, 2017 (151)
72 ILLUMINA ss2633544199 Nov 08, 2017 (151)
73 ILLUMINA ss2633544200 Nov 08, 2017 (151)
74 GRF ss2702851377 Nov 08, 2017 (151)
75 GNOMAD ss2744090515 Nov 08, 2017 (151)
76 GNOMAD ss2750218818 Nov 08, 2017 (151)
77 GNOMAD ss2963330113 Nov 08, 2017 (151)
78 AFFY ss2985144680 Nov 08, 2017 (151)
79 AFFY ss2985775660 Nov 08, 2017 (151)
80 SWEGEN ss3017540728 Nov 08, 2017 (151)
81 ILLUMINA ss3021911568 Nov 08, 2017 (151)
82 ILLUMINA ss3021911569 Nov 08, 2017 (151)
83 ILLUMINA ss3021911570 Nov 08, 2017 (151)
84 ILLUMINA ss3021911571 Nov 08, 2017 (151)
85 ILLUMINA ss3021911572 Nov 08, 2017 (151)
86 ILLUMINA ss3021911573 Nov 08, 2017 (151)
87 ILLUMINA ss3021911574 Nov 08, 2017 (151)
88 ILLUMINA ss3021911575 Nov 08, 2017 (151)
89 ILLUMINA ss3021911576 Nov 08, 2017 (151)
90 ILLUMINA ss3021911577 Nov 08, 2017 (151)
91 ILLUMINA ss3021911578 Nov 08, 2017 (151)
92 ILLUMINA ss3021911579 Nov 08, 2017 (151)
93 ILLUMINA ss3021911580 Nov 08, 2017 (151)
94 ILLUMINA ss3021911581 Nov 08, 2017 (151)
95 ILLUMINA ss3021911582 Nov 08, 2017 (151)
96 ILLUMINA ss3021911583 Nov 08, 2017 (151)
97 ILLUMINA ss3021911584 Nov 08, 2017 (151)
98 ILLUMINA ss3021911585 Nov 08, 2017 (151)
99 ILLUMINA ss3021911586 Nov 08, 2017 (151)
100 ILLUMINA ss3021911587 Nov 08, 2017 (151)
101 ILLUMINA ss3021911588 Nov 08, 2017 (151)
102 ILLUMINA ss3021911589 Nov 08, 2017 (151)
103 ILLUMINA ss3021911590 Nov 08, 2017 (151)
104 ILLUMINA ss3021911591 Nov 08, 2017 (151)
105 BIOINF_KMB_FNS_UNIBA ss3028677779 Nov 08, 2017 (151)
106 TOPMED ss3294331438 Nov 08, 2017 (151)
107 CSHL ss3352320693 Nov 08, 2017 (151)
108 ILLUMINA ss3625742825 Oct 12, 2018 (152)
109 ILLUMINA ss3625742826 Oct 12, 2018 (152)
110 ILLUMINA ss3625742827 Oct 12, 2018 (152)
111 ILLUMINA ss3625742828 Oct 12, 2018 (152)
112 ILLUMINA ss3625742829 Oct 12, 2018 (152)
113 ILLUMINA ss3627941617 Oct 12, 2018 (152)
114 ILLUMINA ss3631515218 Oct 12, 2018 (152)
115 ILLUMINA ss3636425136 Oct 12, 2018 (152)
116 ILLUMINA ss3642062161 Oct 12, 2018 (152)
117 OMUKHERJEE_ADBS ss3646538369 Oct 12, 2018 (152)
118 URBANLAB ss3650925113 Oct 12, 2018 (152)
119 ILLUMINA ss3652337669 Oct 12, 2018 (152)
120 ILLUMINA ss3652337670 Oct 12, 2018 (152)
121 ILLUMINA ss3652337671 Oct 12, 2018 (152)
122 ILLUMINA ss3652337672 Oct 12, 2018 (152)
123 ILLUMINA ss3652337673 Oct 12, 2018 (152)
124 ILLUMINA ss3652337674 Oct 12, 2018 (152)
125 ILLUMINA ss3652337675 Oct 12, 2018 (152)
126 ILLUMINA ss3652337676 Oct 12, 2018 (152)
127 ILLUMINA ss3652337677 Oct 12, 2018 (152)
128 ILLUMINA ss3652337678 Oct 12, 2018 (152)
129 ILLUMINA ss3652337679 Oct 12, 2018 (152)
130 ILLUMINA ss3652337680 Oct 12, 2018 (152)
131 ILLUMINA ss3652337681 Oct 12, 2018 (152)
132 ILLUMINA ss3652337682 Oct 12, 2018 (152)
133 ILLUMINA ss3652337683 Oct 12, 2018 (152)
134 ILLUMINA ss3652337684 Oct 12, 2018 (152)
135 ILLUMINA ss3652337685 Oct 12, 2018 (152)
136 ILLUMINA ss3652337686 Oct 12, 2018 (152)
137 ILLUMINA ss3652337687 Oct 12, 2018 (152)
138 ILLUMINA ss3652337688 Oct 12, 2018 (152)
139 ILLUMINA ss3652337689 Oct 12, 2018 (152)
140 ILLUMINA ss3652337690 Oct 12, 2018 (152)
141 ILLUMINA ss3652337691 Oct 12, 2018 (152)
142 ILLUMINA ss3652337692 Oct 12, 2018 (152)
143 ILLUMINA ss3652337693 Oct 12, 2018 (152)
144 ILLUMINA ss3653917425 Oct 12, 2018 (152)
145 EGCUT_WGS ss3684286598 Jul 13, 2019 (153)
146 EVA_DECODE ss3702845766 Jul 13, 2019 (153)
147 ILLUMINA ss3725733594 Jul 13, 2019 (153)
148 ACPOP ss3743072611 Jul 13, 2019 (153)
149 ILLUMINA ss3744466120 Jul 13, 2019 (153)
150 ILLUMINA ss3744466121 Jul 13, 2019 (153)
151 ILLUMINA ss3744466122 Jul 13, 2019 (153)
152 ILLUMINA ss3744466123 Jul 13, 2019 (153)
153 ILLUMINA ss3744466124 Jul 13, 2019 (153)
154 ILLUMINA ss3744466125 Jul 13, 2019 (153)
155 ILLUMINA ss3744466126 Jul 13, 2019 (153)
156 ILLUMINA ss3744466127 Jul 13, 2019 (153)
157 ILLUMINA ss3744466128 Jul 13, 2019 (153)
158 EVA ss3756111786 Jul 13, 2019 (153)
159 PAGE_CC ss3772016997 Jul 13, 2019 (153)
160 KHV_HUMAN_GENOMES ss3821359903 Jul 13, 2019 (153)
161 EVA ss3825301407 Apr 27, 2020 (154)
162 EVA ss3825938284 Apr 27, 2020 (154)
163 EVA ss3835481188 Apr 27, 2020 (154)
164 EVA ss3841363372 Apr 27, 2020 (154)
165 EVA ss3846869423 Apr 27, 2020 (154)
166 SGDP_PRJ ss3888305361 Apr 27, 2020 (154)
167 KRGDB ss3938432686 Apr 27, 2020 (154)
168 KOGIC ss3981436489 Apr 27, 2020 (154)
169 1000Genomes NC_000019.9 - 45411941 Oct 12, 2018 (152)
170 The Avon Longitudinal Study of Parents and Children NC_000019.9 - 45411941 Oct 12, 2018 (152)
171 Genetic variation in the Estonian population NC_000019.9 - 45411941 Oct 12, 2018 (152)
172 ExAC NC_000019.9 - 45411941 Oct 12, 2018 (152)
173 The Danish reference pan genome NC_000019.9 - 45411941 Apr 27, 2020 (154)
174 gnomAD - Genomes NC_000019.9 - 45411941 Jul 13, 2019 (153)
175 gnomAD - Exomes NC_000019.9 - 45411941 Jul 13, 2019 (153)
176 HapMap NC_000019.10 - 44908684 Apr 27, 2020 (154)
177 KOREAN population from KRGDB NC_000019.9 - 45411941 Apr 27, 2020 (154)
178 Korean Genome Project NC_000019.10 - 44908684 Apr 27, 2020 (154)
179 Northern Sweden NC_000019.9 - 45411941 Jul 13, 2019 (153)
180 The PAGE Study NC_000019.10 - 44908684 Jul 13, 2019 (153)
181 Qatari NC_000019.9 - 45411941 Apr 27, 2020 (154)
182 SGDP_PRJ NC_000019.9 - 45411941 Apr 27, 2020 (154)
183 Siberian NC_000019.9 - 45411941 Apr 27, 2020 (154)
184 TopMed NC_000019.10 - 44908684 Oct 12, 2018 (152)
185 UK 10K study - Twins NC_000019.9 - 45411941 Oct 12, 2018 (152)
186 dbGaP Population Frequency Project NC_000019.10 - 44908684 Apr 27, 2020 (154)
187 ClinVar RCV000019438.29 Oct 12, 2018 (152)
188 ClinVar RCV000019447.31 Apr 27, 2020 (154)
189 ClinVar RCV000019448.33 Oct 12, 2018 (152)
190 ClinVar RCV000019455.32 Apr 27, 2020 (154)
191 ClinVar RCV000019456.28 Oct 12, 2018 (152)
192 ClinVar RCV000019458.26 Apr 27, 2020 (154)
193 ClinVar RCV000292119.3 Apr 27, 2020 (154)
194 ClinVar RCV000825286.1 Apr 27, 2020 (154)
195 ClinVar RCV000826089.1 Apr 27, 2020 (154)
196 ClinVar RCV000845581.1 Apr 27, 2020 (154)
197 ClinVar RCV000856604.2 Apr 27, 2020 (154)
198 ClinVar RCV000991302.1 Apr 27, 2020 (154)
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History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs630496 Sep 19, 2000 (85)
rs61228756 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss160670648, ss168243995, ss410828263, ss483834108, ss1698394130 NC_000019.8:50103780:T:C NC_000019.10:44908683:T:C (self)
76738719, 42493851, 30024846, 4174066, 4835567, 209478697, 13406297, 45610080, 16357476, 19877743, 40322341, 10754436, 42493851, ss228156553, ss237689596, ss481897219, ss484318107, ss491161751, ss491549548, ss536501696, ss661874596, ss713519649, ss780608662, ss782605255, ss836101974, ss974506672, ss994339187, ss1067590770, ss1363326184, ss1578653635, ss1638043657, ss1681037690, ss1693665397, ss1937835821, ss1959869660, ss1959869661, ss1959869662, ss1959869663, ss1959869665, ss1959869666, ss1959869667, ss1959869668, ss1959869669, ss1959869670, ss1959869671, ss1959869672, ss1959869673, ss1959869675, ss1959869676, ss1959869677, ss1959869678, ss1959869679, ss1959869680, ss2029695318, ss2095085222, ss2158238082, ss2391820667, ss2633544198, ss2633544199, ss2633544200, ss2702851377, ss2744090515, ss2750218818, ss2963330113, ss2985144680, ss2985775660, ss3017540728, ss3021911568, ss3021911569, ss3021911570, ss3021911571, ss3021911572, ss3021911573, ss3021911574, ss3021911575, ss3021911576, ss3021911577, ss3021911578, ss3021911579, ss3021911580, ss3021911581, ss3021911582, ss3021911583, ss3021911584, ss3021911585, ss3021911586, ss3021911587, ss3021911588, ss3021911589, ss3021911590, ss3021911591, ss3352320693, ss3625742825, ss3625742826, ss3625742827, ss3625742828, ss3625742829, ss3627941617, ss3631515218, ss3636425136, ss3642062161, ss3646538369, ss3652337669, ss3652337670, ss3652337671, ss3652337672, ss3652337673, ss3652337674, ss3652337675, ss3652337676, ss3652337677, ss3652337678, ss3652337679, ss3652337680, ss3652337681, ss3652337682, ss3652337683, ss3652337684, ss3652337685, ss3652337686, ss3652337687, ss3652337688, ss3652337689, ss3652337690, ss3652337691, ss3652337692, ss3652337693, ss3653917425, ss3684286598, ss3743072611, ss3744466120, ss3744466121, ss3744466122, ss3744466123, ss3744466124, ss3744466125, ss3744466126, ss3744466127, ss3744466128, ss3756111786, ss3825301407, ss3825938284, ss3835481188, ss3841363372, ss3888305361, ss3938432686 NC_000019.9:45411940:T:C NC_000019.10:44908683:T:C (self)
RCV000019438.29, RCV000019448.33, RCV000019455.32, RCV000019456.28, RCV000019458.26, RCV000292119.3, RCV000825286.1, RCV000826089.1, RCV000845581.1, RCV000991302.1, 1701715, 37814490, 1238466, 181977039, 904649036, ss244239676, ss275517967, ss537712916, ss2226012248, ss3028677779, ss3294331438, ss3650925113, ss3702845766, ss3725733594, ss3772016997, ss3821359903, ss3846869423, ss3981436489 NC_000019.10:44908683:T:C NC_000019.10:44908683:T:C (self)
ss21518782, ss76884559 NT_011109.15:17680158:T:C NC_000019.10:44908683:T:C (self)
ss569295, ss803061, ss870163, ss2419938, ss12568607, ss16231123, ss24811489, ss44158325, ss80743998, ss96308980, ss107936537, ss132769779, ss159740185, ss181341884, ss469414605 NT_011109.16:17680158:T:C NC_000019.10:44908683:T:C (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

389 citations for rs429358
PMID Title Author Year Journal
1730728 The functional characteristics of a human apolipoprotein E variant (cysteine at residue 142) may explain its association with dominant expression of type III hyperlipoproteinemia. Horie Y et al. 1992 The Journal of biological chemistry
2341812 Apolipoprotein E2-Dunedin (228 Arg replaced by Cys): an apolipoprotein E2 variant with normal receptor-binding activity. Wardell MR et al. 1990 Journal of lipid research
2539388 Type III hyperlipoproteinemia associated with apolipoprotein E phenotype E3/3. Structure and genetics of an apolipoprotein E3 variant. Rall SC Jr et al. 1989 The Journal of clinical investigation
2987927 Nucleotide sequence and structure of the human apolipoprotein E gene. Paik YK et al. 1985 Proceedings of the National Academy of Sciences of the United States of America
3585172 Apolipoprotein E isoform phenotyping methodology and population frequency with identification of apoE1 and apoE5 isoforms. Ordovas JM et al. 1987 Journal of lipid research
3922972 Isolation, characterization, and mapping to chromosome 19 of the human apolipoprotein E gene. Das HK et al. 1985 The Journal of biological chemistry
6860421 Atypical familial dysbetalipoproteinemia associated with apolipoprotein phenotype E3/3. Havel RJ et al. 1983 The Journal of clinical investigation
7263700 Human E apoprotein heterogeneity. Cysteine-arginine interchanges in the amino acid sequence of the apo-E isoforms. Weisgraber KH et al. 1981 The Journal of biological chemistry
8346443 Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Corder EH et al. 1993 Science (New York, N.Y.)
8488843 Characterization of five new mutants in the carboxyl-terminal domain of human apolipoprotein E: no cosegregation with severe hyperlipidemia. van den Maagdenberg AM et al. 1993 American journal of human genetics
8618665 Apolipoprotein E epsilon4 association with dementia in a population-based study: The Framingham study. Myers RH et al. 1996 Neurology
8644717 Relative risk of Alzheimer disease and age-at-onset distributions, based on APOE genotypes among elderly African Americans, Caucasians, and Hispanics in New York City. Tang MX et al. 1996 American journal of human genetics
9932938 Apolipoprotein E-epsilon4 genotype predicts a poor outcome in survivors of traumatic brain injury. Friedman G et al. 1999 Neurology
10213549 Association of apolipoprotein E polymorphism with outcome after head injury. Teasdale GM et al. 1997 Lancet (London, England)
11835377 Accelerated hippocampal atrophy in Alzheimer's disease with apolipoprotein E epsilon4 allele. Mori E et al. 2002 Annals of neurology
11940689 Apolipoprotein E epsilon 4 and short-term recovery from predominantly mild brain injury. Liberman JN et al. 2002 Neurology
11940706 APOE genotype influences acquisition and recall following traumatic brain injury. Crawford FC et al. 2002 Neurology
14741101 ApoE and clusterin cooperatively suppress Abeta levels and deposition: evidence that ApoE regulates extracellular Abeta metabolism in vivo. DeMattos RB et al. 2004 Neuron
15048896 Accelerated evolution of brain atrophy and "black holes" in MS patients with APOE-epsilon 4. Enzinger C et al. 2004 Annals of neurology
15113403 Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis. Dvornyk V et al. 2004 BMC genetics
15157284 Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes. Long JR et al. 2004 BMC genetics
15172743 ApoE genotype accounts for the vast majority of AD risk and AD pathology. Raber J et al. 2004 Neurobiology of aging
15184602 Longitudinal changes in cognition and behavior in asymptomatic carriers of the APOE e4 allele. Caselli RJ et al. 2004 Neurology
15326261 APOE-epsilon4 predicts dementia but not other psychiatric disorders after traumatic brain injury. Koponen S et al. 2004 Neurology
15557508 Impact of APOE in mild cognitive impairment. Farlow MR et al. 2004 Neurology
15668424 APOE genotype and cognitive decline in a middle-aged cohort. Blair CK et al. 2005 Neurology
16595073 Functional nsSNPs from carcinogenesis-related genes expressed in breast tissue: potential breast cancer risk alleles and their distribution across human populations. Savas S et al. 2006 Human genomics
16603077 Variation at APOE and STH loci and Alzheimer's disease. Zuo L et al. 2006 Behavioral and brain functions
17048007 Association of warfarin dose with genes involved in its action and metabolism. Wadelius M et al. 2007 Human genetics
17356695 Variation in GYS1 interacts with exercise and gender to predict cardiovascular mortality. Fredriksson J et al. 2007 PloS one
17357073 Genetic analysis of 103 candidate genes for coronary artery disease and associated phenotypes in a founder population reveals a new association between endothelin-1 and high-density lipoprotein cholesterol. Pare G et al. 2007 American journal of human genetics
17434289 Comprehensive analysis of APOE and selected proximate markers for late-onset Alzheimer's disease: patterns of linkage disequilibrium and disease/marker association. Yu CE et al. 2007 Genomics
17456829 Evaluation of genetic factors for warfarin dose prediction. Caldwell MD et al. 2007 Clinical medicine & research
17672902 Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes. Kaushal R et al. 2007 BMC medical genetics
17903299 A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. Kathiresan S et al. 2007 BMC medical genetics
18034366 Lack of replication of genetic associations with human longevity. Novelli V et al. 2008 Biogerontology
18196181 Correction of population stratification in large multi-ethnic association studies. Serre D et al. 2008 PloS one
18216863 Genetic determinants of basal C-reactive protein expression in Filipino systemic lupus erythematosus families. Rhodes B et al. 2008 Genes and immunity
18254975 Physiogenomic comparison of human fat loss in response to diets restrictive of carbohydrate or fat. Seip RL et al. 2008 Nutrition & metabolism
18275964 Low-density lipoprotein and high-density lipoprotein cholesterol levels in relation to genetic polymorphisms and menopausal status: the Atherosclerosis Risk in Communities (ARIC) Study. Chamberlain AM et al. 2008 Atherosclerosis
18378515 APOE/C1/C4/C2 hepatic control region polymorphism influences plasma apoE and LDL cholesterol levels. Klos K et al. 2008 Human molecular genetics
18448515 Evidence that the gene encoding insulin degrading enzyme influences human lifespan. Hong MG et al. 2008 Human molecular genetics
18513389 New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background. Penco S et al. 2008 BMC bioinformatics
18574025 The largest prospective warfarin-treated cohort supports genetic forecasting. Wadelius M et al. 2009 Blood
18583979 Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database. Allen NC et al. 2008 Nature genetics
18596683 Dosing algorithms to predict warfarin maintenance dose in Caucasians and African Americans. Schelleman H et al. 2008 Clinical pharmacology and therapeutics
18603647 Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response. Simoni M et al. 2008 Human reproduction update
18678618 Comprehensive association study of type 2 diabetes and related quantitative traits with 222 candidate genes. Gaulton KJ et al. 2008 Diabetes
18823527 A genome-wide association study for late-onset Alzheimer's disease using DNA pooling. Abraham R et al. 2008 BMC medical genomics
18941475 On Jim Watson's APOE status: genetic information is hard to hide. Nyholt DR et al. 2009 European journal of human genetics
18974842 Gender differences in genetic risk profiles for cardiovascular disease. Silander K et al. 2008 PloS one
18976728 Genome-wide association analysis reveals putative Alzheimer's disease susceptibility loci in addition to APOE. Bertram L et al. 2008 American journal of human genetics
19001172 Analyses of the National Institute on Aging Late-Onset Alzheimer's Disease Family Study: implication of additional loci. Lee JH et al. 2008 Archives of neurology
19014573 Application of two machine learning algorithms to genetic association studies in the presence of covariates. Nonyane BA et al. 2008 BMC genetics
19058936 A polymorphism of apolipoprotein E (APOE) gene is associated with age at natural menopause in Caucasian females. He LN et al. 2009 Maturitas
19118814 Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease. Beecham GW et al. 2009 American journal of human genetics
19131662 A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients. Wang X et al. 2009 Stroke
19172988 The complex interaction between APOE promoter and AD: an Italian case-control study. Bizzarro A et al. 2009 European journal of human genetics
19262956 GAB2 gene does not modify the risk of Alzheimer's disease in Spanish APOE 4 carriers. Ramirez-Lorca R et al. 2009 The journal of nutrition, health & aging
19263529 Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach. Zee RY et al. 2009 Clinica chimica acta; international journal of clinical chemistry
19285141 Genetic determinants of target and novelty-related event-related potentials in the auditory oddball response. Liu J et al. 2009 NeuroImage
19299407 Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample. Lanktree MB et al. 2009 Journal of lipid research
19336475 Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk. Drenos F et al. 2009 Human molecular genetics
19377787 Association between apolipoprotein E genotype, serum lipids, and colorectal cancer in Brazilian individuals. Souza DR et al. 2009 Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas
19501493 A composite scoring of genotypes discriminates coronary heart disease risk beyond conventional risk factors in the Boston Puerto Rican Health Study. Junyent M et al. 2010 Nutrition, metabolism, and cardiovascular diseases
19541455 Apolipoprotein-E gene variants associated with cardiovascular risk factors in antipsychotic recipients. Clark D et al. 2009 European psychiatry
19554612 APOE mRNA and protein expression in postmortem brain are modulated by an extended haplotype structure. Bekris LM et al. 2010 American journal of medical genetics. Part B, Neuropsychiatric genetics
19602472 Lipid and endothelium-related genes, ambient particulate matter, and heart rate variability--the VA Normative Aging Study. Ren C et al. 2010 Journal of epidemiology and community health
19653016 Sequence variation in SORL1 and dementia risk in Swedes. Reynolds CA et al. 2010 Neurogenetics
19667110 Identification of genetic variants associated with response to statin therapy. Mega JL et al. 2009 Arteriosclerosis, thrombosis, and vascular biology
19668339 Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease. Potkin SG et al. 2009 PloS one
19734902 Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Harold D et al. 2009 Nature genetics
19756043 A simple and efficient algorithm for genome-wide homozygosity analysis in disease. Liu W et al. 2009 Molecular systems biology
19766542 The FAS gene, brain volume, and disease progression in Alzheimer's disease. Erten-Lyons D et al. 2010 Alzheimer's & dementia
19787382 Introduction to the DISRUPT postprandial database: subjects, studies and methodologies. Jackson KG et al. 2010 Genes & nutrition
19818961 Apolipoprotein E genotype is associated with serum C-reactive protein but not abdominal aortic aneurysm. Golledge J et al. 2010 Atherosclerosis
19884647 Air pollution, obesity, genes and cellular adhesion molecules. Madrigano J et al. 2010 Occupational and environmental medicine
19913121 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. Talmud PJ et al. 2009 American journal of human genetics
19936222 Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. Chasman DI et al. 2009 PLoS genetics
19951432 Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease. Ronald J et al. 2009 Lipids in health and disease
20082485 Genetic variants involved in gallstone formation and capsaicin metabolism, and the risk of gallbladder cancer in Chilean women. Báez S et al. 2010 World journal of gastroenterology
20100581 Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort. Shen L et al. 2010 NeuroImage
20167577 Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk. Reynolds CA et al. 2010 Human molecular genetics
20308031 Functional polymorphisms to modulate luminal lipid exposure and risk of colorectal cancer. Kato I et al. 2010 Cancer epidemiology
20381870 Progression of geographic atrophy and genotype in age-related macular degeneration. Klein ML et al. 2010 Ophthalmology
20396431 Genotyping sleep disorders patients. Kripke DF et al. 2010 Psychiatry investigation
20406466 Genetic variants associated with fasting blood lipids in the U.S. population: Third National Health and Nutrition Examination Survey. Chang MH et al. 2010 BMC medical genetics
20429872 Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study. Ariza MJ et al. 2010 BMC medical genetics
20451875 Alzheimer's Disease Neuroimaging Initiative biomarkers as quantitative phenotypes: Genetics core aims, progress, and plans. Saykin AJ et al. 2010 Alzheimer's & dementia
20460622 Genome-wide analysis of genetic loci associated with Alzheimer disease. Seshadri S et al. 2010 JAMA
20467002 Impact of psychological stress on the associations between apolipoprotein E variants and metabolic traits: findings in an American sample of caregivers and controls. Kring SI et al. 2010 Psychosomatic medicine
20498921 APOE/C1/C4/C2 gene cluster genotypes, haplotypes and lipid levels in prospective coronary heart disease risk among UK healthy men. Ken-Dror G et al. 2010 Molecular medicine (Cambridge, Mass.)
20549395 Genetics of post-traumatic stress disorder: review and recommendations for genome-wide association studies. Cornelis MC et al. 2010 Current psychiatry reports
20556870 CLIA-tested genetic variants on commercial SNP arrays: potential for incidental findings in genome-wide association studies. Johnson AD et al. 2010 Genetics in medicine
20565774 Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project. Cross DS et al. 2010 BMC genetics
20569235 HRAS1 and LASS1 with APOE are associated with human longevity and healthy aging. Jazwinski SM et al. 2010 Aging cell
20663622 A susceptible haplotype within APOE gene influences BMD and intensifies the osteoporosis risk in postmenopausal women of Northwest India. Singh M et al. 2010 Maturitas
20682755 A pilot study of gene/gene and gene/environment interactions in Alzheimer disease. Ghebranious N et al. 2011 Clinical medicine & research
20822524 Isoform of APOE with retained intron 3; quantitation and identification of an associated single nucleotide polymorphism. Dieter LS et al. 2010 Molecular neurodegeneration
20832063 Exploring genetic determinants of plasma total cholesterol levels and their predictive value in a longitudinal study. Lu Y et al. 2010 Atherosclerosis
20885792 Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities. Naj AC et al. 2010 PLoS genetics
20946940 Association of variants within APOE, SORL1, RUNX1, BACE1 and ALDH18A1 with dementia in Alzheimer's disease in subjects with Down syndrome. Patel A et al. 2011 Neuroscience letters
21045241 Age-related macular degeneration: genetic and environmental factors of disease. Chen Y et al. 2010 Molecular interventions
21054877 Inflammation gene variants and susceptibility to albuminuria in the U.S. population: analysis in the Third National Health and Nutrition Examination Survey (NHANES III), 1991-1994. Ned RM et al. 2010 BMC medical genetics
21123754 Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort. Kim S et al. 2011 Neurology
21124753 Alzheimer's disease: diagnostics, prognostics and the road to prevention. Grossman I et al. 2010 The EPMA journal
21146954 Genes and abdominal aortic aneurysm. Hinterseher I et al. 2011 Annals of vascular surgery
21196064 Amyloid precursor protein (APP) processing genes and cerebrospinal fluid APP cleavage product levels in Alzheimer's disease. Bekris LM et al. 2011 Neurobiology of aging
21215387 IQ, educational attainment, memory and plasma lipids: associations with apolipoprotein E genotype in 5995 children. Taylor AE et al. 2011 Biological psychiatry
21228733 Genetic and nongenetic factors associated with warfarin dose requirements in Egyptian patients. Shahin MH et al. 2011 Pharmacogenetics and genomics
21263195 An APOE haplotype associated with decreased ε4 expression increases the risk of late onset Alzheimer's disease. Lescai F et al. 2011 Journal of Alzheimer's disease
21285406 Low-density lipoprotein cholesterol and the risk of cancer: a mendelian randomization study. Benn M et al. 2011 Journal of the National Cancer Institute
21297263 Genetic association of sequence variants near AGER/NOTCH4 and dementia. Bennet AM et al. 2011 Journal of Alzheimer's disease
21324458 Association of gene variants with lipid levels in response to fenofibrate is influenced by metabolic syndrome status. Feitosa MF et al. 2011 Atherosclerosis
21379329 Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE. Wijsman EM et al. 2011 PLoS genetics
21418511 Genome-wide association study identifies a single major locus contributing to survival into old age; the APOE locus revisited. Deelen J et al. 2011 Aging cell
21441355 Detection of common single nucleotide polymorphisms synthesizing quantitative trait association of rarer causal variants. Takeuchi F et al. 2011 Genome research
21450715 High-dimensional pharmacogenetic prediction of a continuous trait using machine learning techniques with application to warfarin dose prediction in African Americans. Cosgun E et al. 2011 Bioinformatics (Oxford, England)
21467728 Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study. Wakai K et al. 2011 Journal of epidemiology
21488854 Glucuronic acid epimerase is associated with plasma triglyceride and high-density lipoprotein cholesterol levels in Turks. Hodoğlugil U et al. 2011 Annals of human genetics
21498624 Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people. McKay GJ et al. 2011 American journal of epidemiology
21537386 Using In silico LD clumping and meta-analysis of genome-wide datasets as a complementary tool to investigate and validate new candidate biomarkers in Alzheimer's disease. Medway C et al. 2010 International journal of molecular epidemiology and genetics
21537452 Evaluation of neprilysin sequence variation in relation to CSF β-Amyloid levels and Alzheimer disease risk. Blomqvist ME et al. 2010 International journal of molecular epidemiology and genetics
21547229 Neuroimaging measures as endophenotypes in Alzheimer's disease. Braskie MN et al. 2011 International journal of Alzheimer's disease
21597005 An increased burden of common and rare lipid-associated risk alleles contributes to the phenotypic spectrum of hypertriglyceridemia. Johansen CT et al. 2011 Arteriosclerosis, thrombosis, and vascular biology
21647738 Genome-wide association with C-reactive protein levels in CLHNS: evidence for the CRP and HNF1A loci and their interaction with exposure to a pathogenic environment. Wu Y et al. 2012 Inflammation
21672907 The application of naive Bayes model averaging to predict Alzheimer's disease from genome-wide data. Wei W et al. 2011 Journal of the American Medical Informatics Association
21689001 Association study between apolipoprotein E gene polymorphism and diabetic nephropathy in a Taiwanese population. Wen MJ et al. 2011 Genetic testing and molecular biomarkers
21703254 APOE haplotypes are associated with human longevity in a Central Italy population: evidence for epistasis with HP 1/2 polymorphism. Napolioni V et al. 2011 Clinica chimica acta; international journal of clinical chemistry
21708280 Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis. Srivastava K et al. 2011 Mutation research
21738485 Genetic determinants of lipid traits in diverse populations from the population architecture using genomics and epidemiology (PAGE) study. Dumitrescu L et al. 2011 PLoS genetics
21767357 Genetic variants in lipid metabolism are independently associated with multiple features of the metabolic syndrome. Povel CM et al. 2011 Lipids in health and disease
21773006 Studies of gene variants related to inflammation, oxidative stress, dyslipidemia, and obesity: implications for a nutrigenetic approach. Curti ML et al. 2011 Journal of obesity
21774831 Association between genetic variants in the Coenzyme Q10 metabolism and Coenzyme Q10 status in humans. Fischer A et al. 2011 BMC research notes
21784354 The effect of TOMM40 poly-T length on gray matter volume and cognition in middle-aged persons with APOE ε3/ε3 genotype. Johnson SC et al. 2011 Alzheimer's & dementia
21792545 ApoE genotypes are associated with age at natural menopause in Chinese females. Meng FT et al. 2012 Age (Dordrecht, Netherlands)
21799773 Genetic cross-interaction between APOE and PRNP in sporadic Alzheimer's and Creutzfeldt-Jakob diseases. Calero O et al. 2011 PloS one
21803501 Cerebrospinal fluid cortisol concentrations in healthy elderly are affected by both APOE and TOMM40 variants. Bruno D et al. 2012 Psychoneuroendocrinology
21825236 Association and expression analyses with single-nucleotide polymorphisms in TOMM40 in Alzheimer disease. Cruchaga C et al. 2011 Archives of neurology
21829380 Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability. Sanna S et al. 2011 PLoS genetics
21845926 Inflammatory gene variants in the Tsimane, an indigenous Bolivian population with a high infectious load. Vasunilashorn S et al. 2011 Biodemography and social biology
21857382 Candidate genes and risk for CP: a population-based study. Wu YW et al. 2011 Pediatric research
21862702 Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk. Calandra S et al. 2011 Journal of lipid research
21882290 Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies. McKay GJ et al. 2011 Human mutation
21889590 Volume of white matter hyperintensities in healthy adults: contribution of age, vascular risk factors, and inflammation-related genetic variants. Raz N et al. 2012 Biochimica et biophysica acta
21894447 Are centenarians genetically predisposed to lower disease risk? Ruiz JR et al. 2012 Age (Dordrecht, Netherlands)
21901424 Amyloid pathway-based candidate gene analysis of [(11)C]PiB-PET in the Alzheimer's Disease Neuroimaging Initiative (ADNI) cohort. Swaminathan S et al. 2012 Brain imaging and behavior
21906714 Evaluation of new and established age-related macular degeneration susceptibility genes in the Women's Health Initiative Sight Exam (WHI-SE) Study. Peter I et al. 2011 American journal of ophthalmology
21933389 The "Alzheimer's disease signature": potential perspectives for novel biomarkers. Davinelli S et al. 2011 Immunity & ageing
21937998 Single-nucleotide polymorphisms at five loci are associated with C-reactive protein levels in a cohort of Filipino young adults. Curocichin G et al. 2011 Journal of human genetics
22005931 Genome-wide association analysis of age-at-onset in Alzheimer's disease. Kamboh MI et al. 2012 Molecular psychiatry
22024213 A novel gene-environment interaction involved in endometriosis. McCarty CA et al. 2012 International journal of gynaecology and obstetrics
22042884 Association of genetic variants and incident coronary heart disease in multiethnic cohorts: the PAGE study. Franceschini N et al. 2011 Circulation. Cardiovascular genetics
22046233 Impact of genetic variation in SORCS1 on memory retention. Reitz C et al. 2011 PloS one
22074026 Apolipoprotein E mRNA expression in mononuclear cells from normolipidemic and hypercholesterolemic individuals treated with atorvastatin. Cerda A et al. 2011 Lipids in health and disease
22089642 Functional analysis of APOE locus genetic variation implicates regional enhancers in the regulation of both TOMM40 and APOE. Bekris LM et al. 2012 Journal of human genetics
22155867 Identifying quantitative trait loci via group-sparse multitask regression and feature selection: an imaging genetics study of the ADNI cohort. Wang H et al. 2012 Bioinformatics (Oxford, England)
22190428 Genome-wide and gene-based association implicates FRMD6 in Alzheimer disease. Hong MG et al. 2012 Human mutation
22209813 Sparse reduced-rank regression detects genetic associations with voxel-wise longitudinal phenotypes in Alzheimer's disease. Vounou M et al. 2012 NeuroImage
22234866 Evidence from case-control and longitudinal studies supports associations of genetic variation in APOE, CETP, and IL6 with human longevity. Soerensen M et al. 2013 Age (Dordrecht, Netherlands)
22236693 Genetic polymorphisms of nerve growth factor receptor (NGFR) and the risk of Alzheimer's disease. Cheng HC et al. 2012 Journal of negative results in biomedicine
22245009 Age-related differences in memory and executive functions in healthy APOE ɛ4 carriers: the contribution of individual differences in prefrontal volumes and systolic blood pressure. Bender AR et al. 2012 Neuropsychologia
22247473 Prospective assessment of genetic effects on progression to different stages of age-related macular degeneration using multistate Markov models. Yu Y et al. 2012 Investigative ophthalmology & visual science
22272811 Sequence variants of interleukin 6 (IL-6) are significantly associated with a decreased risk of late-onset Alzheimer's disease. Chen SY et al. 2012 Journal of neuroinflammation
22303384 Whole genome sequences of a male and female supercentenarian, ages greater than 114 years. Sebastiani P et al. 2011 Frontiers in genetics
22328972 A Database of Gene-Environment Interactions Pertaining to Blood Lipid Traits, Cardiovascular Disease and Type 2 Diabetes. Lee YC et al. 2011 Journal of data mining in genomics & proteomics
22347417 Single nucleotide polymorphism in gene encoding transcription factor Prep1 is associated with HIV-1-associated dementia. Bol SM et al. 2012 PloS one
22348020 Exogenous visual orienting is associated with specific neurotransmitter genetic markers: a population-based genetic association study. Lundwall RA et al. 2012 PloS one
22359560 Characterization of the poly-T variant in the TOMM40 gene in diverse populations. Linnertz C et al. 2012 PloS one
22380508 Cognitive reserve, cortical plasticity and resistance to Alzheimer's disease. Esiri MM et al. 2012 Alzheimer's research & therapy
22499766 The search for longevity and healthy aging genes: insights from epidemiological studies and samples of long-lived individuals. Murabito JM et al. 2012 The journals of gerontology. Series A, Biological sciences and medical sciences
22530123 Screening and Evaluation of Deleterious SNPs in APOE Gene of Alzheimer's Disease. Masoodi TA et al. 2012 Neurology research international
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31127079 Alzheimer's disease polygenic risk score as a predictor of conversion from mild-cognitive impairment. Chaudhury S et al. 2019 Translational psychiatry
31134487 Role of Apolipoprotein E, Cathepsin D, and Brain-Derived Neurotrophic Factor in Parkinson's Disease: A Study from Eastern India. Pal P et al. 2019 Neuromolecular medicine
31189032 Dementia with lewy bodies: GBA1 mutations are associated with cerebrospinal fluid alpha-synuclein profile. Lerche S et al. 2019 Movement disorders
31192002 Multiple Gene Polymorphisms Associated with Exfoliation Syndrome in the Uygur Population. Ma YN et al. 2019 Journal of ophthalmology
31381519 APOE ɛ4 Carriers Show Delayed Recovery of Verbal Memory and Smaller Entorhinal Volume in the First Year After Ischemic Stroke. Werden E et al. 2019 Journal of Alzheimer's disease
31413261 A meta-analysis of genome-wide association studies identifies multiple longevity genes. Deelen J et al. 2019 Nature communications
31469155 The combined risk effect among BIN1, CLU, and APOE genes in Alzheimer's disease. Santos LRD et al. 2020 Genetics and molecular biology
31480637 Impact of the <i>Apolipoprotein E</i> (epsilon) Genotype on Cardiometabolic Risk Markers and Responsiveness to Acute and Chronic Dietary Fat Manipulation. Rathnayake KM et al. 2019 Nutrients
31505070 Genomewide association study of Parkinson's disease clinical biomarkers in 12 longitudinal patients' cohorts. Iwaki H et al. 2019 Movement disorders
31523375 Evidence for a contribution of the APOE (but not the ACE) gene to the sleep profile of non-demented elderly adults. Camargos EF et al. 2019 International journal of molecular epidemiology and genetics
31559922 APOE polymorphism is associated with blood lipid and serum uric acid metabolism in hypertension or coronary heart disease in a Chinese population. Wang C et al. 2019 Pharmacogenomics
31585025 The influence of gene polymorphisms on postprandial triglyceride response after oral fat tolerance test meal in patients with diabetes mellitus. Gavra P et al. 2019 International journal of clinical practice
31654486 The association study of lipid metabolism gene polymorphisms with AMD identifies a protective role for APOE-E2 allele in the wet form in a Northern Spanish population. Fernández-Vega B et al. 2020 Acta ophthalmologica
31767813 Connection between polymorphisms in <i>HTR2A</i>, <i>TPH2</i>, <i>BDNF</i>, <i>TOMM40</i> genes and the successful mastering of human-computer interfaces. Turovsky YA et al. 2019 Journal of genetics
31833563 A novel multi-locus genetic risk score identifies patients with higher risk of generalized aggressive periodontitis. Li W et al. 2020 Journal of periodontology
31854268 Impact of <i>CYP2C9</i>, <i>VKORC1</i>, <i>ApoE</i> and <i>ABCB1</i> polymorphisms on stable warfarin dose requirements in elderly Chinese patients. Li W et al. 2020 Pharmacogenomics
31861518 Genetic Associations with Aging Muscle: A Systematic Review. Pratt J et al. 2019 Cells
Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post536+f5d31d6