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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 Aliases 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.

rs2230806

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr9:104858586 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.32363 (81377/251448, GnomAD_exome)
T=0.40301 (50605/125568, TOPMED)
T=0.32994 (40041/121360, ExAC) (+ 7 more)
T=0.3711 (11630/31336, GnomAD)
T=0.440 (2202/5008, 1000G)
T=0.275 (1230/4480, Estonian)
T=0.268 (1032/3854, ALSPAC)
T=0.259 (959/3708, TWINSUK)
T=0.40 (244/616, Vietnamese)
T=0.21 (125/600, NorthernSweden)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ABCA1 : Missense Variant
Publications
53 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 9 NC_000009.12:g.104858586C>T
GRCh37.p13 chr 9 NC_000009.11:g.107620867C>T
ABCA1 RefSeqGene NG_007981.1:g.74570G>A
Gene: ABCA1, ATP binding cassette subfamily A member 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ABCA1 transcript NM_005502.4:c.656G>A R [AGG] > K [AAG] Coding Sequence Variant
phospholipid-transporting ATPase ABCA1 NP_005493.2:p.Arg219Lys R (Arg) > K (Lys) Missense Variant
ABCA1 transcript variant X13 XM_011518344.2:c.731G>A R [AGG] > K [AAG] Coding Sequence Variant
phospholipid-transporting ATPase ABCA1 isoform X7 XP_011516646.1:p.Arg244Lys R (Arg) > K (Lys) Missense Variant
ABCA1 transcript variant X1 XM_011518339.3:c.731G>A R [AGG] > K [AAG] Coding Sequence Variant
phospholipid-transporting ATPase ABCA1 isoform X1 XP_011516641.1:p.Arg244Lys R (Arg) > K (Lys) Missense Variant
ABCA1 transcript variant X2 XM_011518340.3:c.731G>A R [AGG] > K [AAG] Coding Sequence Variant
phospholipid-transporting ATPase ABCA1 isoform X1 XP_011516642.1:p.Arg244Lys R (Arg) > K (Lys) Missense Variant
ABCA1 transcript variant X3 XM_017014378.2:c.731G>A R [AGG] > K [AAG] Coding Sequence Variant
phospholipid-transporting ATPase ABCA1 isoform X1 XP_016869867.1:p.Arg244Lys R (Arg) > K (Lys) Missense Variant
ABCA1 transcript variant X4 XM_017014379.2:c.731G>A R [AGG] > K [AAG] Coding Sequence Variant
phospholipid-transporting ATPase ABCA1 isoform X1 XP_016869868.1:p.Arg244Lys R (Arg) > K (Lys) Missense Variant
ABCA1 transcript variant X5 XM_017014380.2:c.731G>A R [AGG] > K [AAG] Coding Sequence Variant
phospholipid-transporting ATPase ABCA1 isoform X1 XP_016869869.1:p.Arg244Lys R (Arg) > K (Lys) Missense Variant
ABCA1 transcript variant X6 XM_017014381.2:c.731G>A R [AGG] > K [AAG] Coding Sequence Variant
phospholipid-transporting ATPase ABCA1 isoform X1 XP_016869870.1:p.Arg244Lys R (Arg) > K (Lys) Missense Variant
ABCA1 transcript variant X7 XM_011518341.3:c.731G>A R [AGG] > K [AAG] Coding Sequence Variant
phospholipid-transporting ATPase ABCA1 isoform X2 XP_011516643.1:p.Arg244Lys R (Arg) > K (Lys) Missense Variant
ABCA1 transcript variant X8 XM_005251773.3:c.656G>A R [AGG] > K [AAG] Coding Sequence Variant
phospholipid-transporting ATPase ABCA1 isoform X3 XP_005251830.1:p.Arg219Lys R (Arg) > K (Lys) Missense Variant
ABCA1 transcript variant X9 XM_017014382.2:c.593G>A R [AGG] > K [AAG] Coding Sequence Variant
phospholipid-transporting ATPase ABCA1 isoform X4 XP_016869871.1:p.Arg198Lys R (Arg) > K (Lys) Missense Variant
ABCA1 transcript variant X10 XM_005251776.3:c.476G>A R [AGG] > K [AAG] Coding Sequence Variant
phospholipid-transporting ATPase ABCA1 isoform X5 XP_005251833.1:p.Arg159Lys R (Arg) > K (Lys) Missense Variant
ABCA1 transcript variant X11 XM_011518342.3:c.293G>A R [AGG] > K [AAG] Coding Sequence Variant
phospholipid-transporting ATPase ABCA1 isoform X6 XP_011516644.1:p.Arg98Lys R (Arg) > K (Lys) Missense Variant
ABCA1 transcript variant X12 XR_001746223.1:n.1044G>A N/A Non Coding Transcript 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: 24545 )
ClinVar Accession Disease Names Clinical Significance
RCV000010114.6 Coronary heart disease in familial hypercholesterolemia, protection against Benign
RCV000310562.1 Familial High Density Lipoprotein Deficiency Benign
RCV000367106.1 Tangier disease Benign
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 251448 C=0.67637 T=0.32363
gnomAD - Exomes European Sub 135382 C=0.73452 T=0.26548
gnomAD - Exomes Asian Sub 49008 C=0.6086 T=0.3914
gnomAD - Exomes American Sub 34588 C=0.6751 T=0.3249
gnomAD - Exomes African Sub 16254 C=0.3699 T=0.6301
gnomAD - Exomes Ashkenazi Jewish Sub 10080 C=0.7194 T=0.2806
gnomAD - Exomes Other Sub 6136 C=0.682 T=0.318
TopMed Global Study-wide 125568 C=0.59699 T=0.40301
ExAC Global Study-wide 121360 C=0.67006 T=0.32994
ExAC Europe Sub 73348 C=0.7333 T=0.2667
ExAC Asian Sub 25138 C=0.6052 T=0.3948
ExAC American Sub 11564 C=0.6768 T=0.3232
ExAC African Sub 10402 C=0.3740 T=0.6260
ExAC Other Sub 908 C=0.66 T=0.34
gnomAD - Genomes Global Study-wide 31336 C=0.6289 T=0.3711
gnomAD - Genomes European Sub 18868 C=0.7359 T=0.2641
gnomAD - Genomes African Sub 8692 C=0.384 T=0.616
gnomAD - Genomes East Asian Sub 1556 C=0.580 T=0.420
gnomAD - Genomes Other Sub 1086 C=0.698 T=0.302
gnomAD - Genomes American Sub 844 C=0.72 T=0.28
gnomAD - Genomes Ashkenazi Jewish Sub 290 C=0.74 T=0.26
1000Genomes Global Study-wide 5008 C=0.560 T=0.440
1000Genomes African Sub 1322 C=0.290 T=0.710
1000Genomes East Asian Sub 1008 C=0.585 T=0.415
1000Genomes Europe Sub 1006 C=0.757 T=0.243
1000Genomes South Asian Sub 978 C=0.63 T=0.37
1000Genomes American Sub 694 C=0.65 T=0.35
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.725 T=0.275
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.732 T=0.268
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.741 T=0.259
A Vietnamese Genetic Variation Database Global Study-wide 616 C=0.60 T=0.40
Northern Sweden ACPOP Study-wide 600 C=0.79 T=0.21
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 C= T Note
GRCh38.p12 chr 9 NC_000009.12:g.104858586= NC_000009.12:g.10485858...

NC_000009.12:g.104858586C>T

GRCh37.p13 chr 9 NC_000009.11:g.107620867= NC_000009.11:g.10762086...

NC_000009.11:g.107620867C>T

ABCA1 RefSeqGene NG_007981.1:g.74570= NG_007981.1:g.74570G>A
ABCA1 transcript NM_005502.4:c.656= NM_005502.4:c.656G>A
ABCA1 transcript NM_005502.3:c.656= NM_005502.3:c.656G>A
ABCA1 transcript variant X2 XM_011518340.3:c.731= XM_011518340.3:c.731G>A
ABCA1 transcript variant X1 XM_011518339.3:c.731= XM_011518339.3:c.731G>A
ABCA1 transcript variant X7 XM_011518341.3:c.731= XM_011518341.3:c.731G>A
ABCA1 transcript variant X8 XM_005251773.3:c.656= XM_005251773.3:c.656G>A
ABCA1 transcript variant X4 XM_005251773.1:c.656= XM_005251773.1:c.656G>A
ABCA1 transcript variant X10 XM_005251776.3:c.476= XM_005251776.3:c.476G>A
ABCA1 transcript variant X5 XM_005251776.1:c.476= XM_005251776.1:c.476G>A
ABCA1 transcript variant X11 XM_011518342.3:c.293= XM_011518342.3:c.293G>A
ABCA1 transcript variant X4 XM_017014379.2:c.731= XM_017014379.2:c.731G>A
ABCA1 transcript variant X9 XM_017014382.2:c.593= XM_017014382.2:c.593G>A
ABCA1 transcript variant X3 XM_017014378.2:c.731= XM_017014378.2:c.731G>A
ABCA1 transcript variant X6 XM_017014381.2:c.731= XM_017014381.2:c.731G>A
ABCA1 transcript variant X5 XM_017014380.2:c.731= XM_017014380.2:c.731G>A
ABCA1 transcript variant X13 XM_011518344.2:c.731= XM_011518344.2:c.731G>A
ABCA1 transcript variant X12 XR_001746223.1:n.1044= XR_001746223.1:n.1044G>A
phospholipid-transporting ATPase ABCA1 NP_005493.2:p.Arg219= NP_005493.2:p.Arg219Lys
phospholipid-transporting ATPase ABCA1 isoform X1 XP_011516642.1:p.Arg244= XP_011516642.1:p.Arg244Lys
phospholipid-transporting ATPase ABCA1 isoform X1 XP_011516641.1:p.Arg244= XP_011516641.1:p.Arg244Lys
phospholipid-transporting ATPase ABCA1 isoform X2 XP_011516643.1:p.Arg244= XP_011516643.1:p.Arg244Lys
phospholipid-transporting ATPase ABCA1 isoform X3 XP_005251830.1:p.Arg219= XP_005251830.1:p.Arg219Lys
phospholipid-transporting ATPase ABCA1 isoform X5 XP_005251833.1:p.Arg159= XP_005251833.1:p.Arg159Lys
phospholipid-transporting ATPase ABCA1 isoform X6 XP_011516644.1:p.Arg98= XP_011516644.1:p.Arg98Lys
phospholipid-transporting ATPase ABCA1 isoform X1 XP_016869868.1:p.Arg244= XP_016869868.1:p.Arg244Lys
phospholipid-transporting ATPase ABCA1 isoform X4 XP_016869871.1:p.Arg198= XP_016869871.1:p.Arg198Lys
phospholipid-transporting ATPase ABCA1 isoform X1 XP_016869867.1:p.Arg244= XP_016869867.1:p.Arg244Lys
phospholipid-transporting ATPase ABCA1 isoform X1 XP_016869870.1:p.Arg244= XP_016869870.1:p.Arg244Lys
phospholipid-transporting ATPase ABCA1 isoform X1 XP_016869869.1:p.Arg244= XP_016869869.1:p.Arg244Lys
phospholipid-transporting ATPase ABCA1 isoform X7 XP_011516646.1:p.Arg244= XP_011516646.1:p.Arg244Lys
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#.

138 SubSNP, 10 Frequency, 3 ClinVar submissions
No Submitter Submission ID Date (Build)
1 NUSPAE ss3188685 Aug 15, 2001 (105)
2 SC_JCM ss3488736 Sep 28, 2001 (105)
3 RIKENSNPRC ss5603801 Dec 12, 2002 (110)
4 BCM_SSAHASNP ss10514830 Jul 11, 2003 (116)
5 SNP500CANCER ss12675189 Nov 17, 2003 (118)
6 SC_SNP ss15710351 Feb 27, 2004 (120)
7 CSHL-HAPMAP ss20370337 Feb 27, 2004 (120)
8 IMCJ-GDT ss22886412 Apr 05, 2004 (121)
9 ABI ss43782758 Mar 13, 2006 (126)
10 APPLERA_GI ss48413631 Mar 13, 2006 (126)
11 SHGC ss65824203 Nov 30, 2006 (127)
12 ILLUMINA ss66644090 Nov 30, 2006 (127)
13 ILLUMINA ss67235627 Nov 30, 2006 (127)
14 ILLUMINA ss67631739 Nov 30, 2006 (127)
15 CSHL-HAPMAP ss68377571 Jan 12, 2007 (127)
16 PERLEGEN ss69298514 May 17, 2007 (127)
17 ILLUMINA ss70713958 May 27, 2008 (130)
18 ILLUMINA ss71281654 May 17, 2007 (127)
19 AFFY ss74806961 Aug 16, 2007 (128)
20 ILLUMINA ss75538321 Dec 06, 2007 (129)
21 CGM_KYOTO ss76877191 Dec 06, 2007 (129)
22 HGSV ss78067773 Dec 06, 2007 (129)
23 ILLUMINA ss79121771 Dec 16, 2007 (130)
24 KRIBB_YJKIM ss84002031 Dec 16, 2007 (130)
25 HGSV ss84377835 Dec 16, 2007 (130)
26 1000GENOMES ss108969840 Jan 23, 2009 (130)
27 1000GENOMES ss114871255 Jan 25, 2009 (130)
28 ILLUMINA-UK ss115776822 Feb 14, 2009 (130)
29 ILLUMINA ss120037348 Dec 01, 2009 (131)
30 ILLUMINA ss121957475 Dec 01, 2009 (131)
31 ILLUMINA ss153888389 Dec 01, 2009 (131)
32 GMI ss157829796 Dec 01, 2009 (131)
33 ILLUMINA ss159370162 Dec 01, 2009 (131)
34 SEATTLESEQ ss159718829 Dec 01, 2009 (131)
35 ILLUMINA ss160517657 Dec 01, 2009 (131)
36 ENSEMBL ss161683862 Dec 01, 2009 (131)
37 COMPLETE_GENOMICS ss164592760 Jul 04, 2010 (132)
38 COMPLETE_GENOMICS ss165610295 Jul 04, 2010 (132)
39 ILLUMINA ss171105150 Jul 04, 2010 (132)
40 ILLUMINA ss173194659 Jul 04, 2010 (132)
41 BUSHMAN ss200716253 Jul 04, 2010 (132)
42 1000GENOMES ss224382337 Jul 14, 2010 (132)
43 1000GENOMES ss234918476 Jul 15, 2010 (132)
44 1000GENOMES ss241675666 Jul 15, 2010 (132)
45 OMICIA ss244238744 Aug 29, 2012 (137)
46 ILLUMINA ss244288064 Jul 04, 2010 (132)
47 BL ss254451140 May 09, 2011 (134)
48 GMI ss280347982 May 04, 2012 (137)
49 PJP ss294344365 May 09, 2011 (134)
50 NHLBI-ESP ss342279560 May 09, 2011 (134)
51 OMIM-CURATED-RECORDS ss342562846 Mar 29, 2011 (133)
52 ILLUMINA ss480472823 May 04, 2012 (137)
53 ILLUMINA ss480487159 May 04, 2012 (137)
54 ILLUMINA ss481284970 Sep 08, 2015 (146)
55 ILLUMINA ss485033889 May 04, 2012 (137)
56 1000GENOMES ss490982234 May 04, 2012 (137)
57 EXOME_CHIP ss491425866 May 04, 2012 (137)
58 CLINSEQ_SNP ss491940424 May 04, 2012 (137)
59 ILLUMINA ss537057790 Sep 08, 2015 (146)
60 TISHKOFF ss561546673 Apr 25, 2013 (138)
61 SSMP ss656043960 Apr 25, 2013 (138)
62 ILLUMINA ss779058581 Sep 08, 2015 (146)
63 ILLUMINA ss782963190 Sep 08, 2015 (146)
64 ILLUMINA ss783925206 Sep 08, 2015 (146)
65 ILLUMINA ss825452289 Apr 01, 2015 (144)
66 ILLUMINA ss832219430 Sep 08, 2015 (146)
67 ILLUMINA ss832881990 Jul 13, 2019 (153)
68 ILLUMINA ss834521702 Sep 08, 2015 (146)
69 JMKIDD_LAB ss974471669 Aug 21, 2014 (142)
70 EVA-GONL ss986839517 Aug 21, 2014 (142)
71 JMKIDD_LAB ss1067505732 Aug 21, 2014 (142)
72 JMKIDD_LAB ss1076504987 Aug 21, 2014 (142)
73 1000GENOMES ss1334925698 Aug 21, 2014 (142)
74 DDI ss1431920139 Apr 01, 2015 (144)
75 EVA_GENOME_DK ss1583204501 Apr 01, 2015 (144)
76 EVA_FINRISK ss1584063636 Apr 01, 2015 (144)
77 EVA_DECODE ss1596476185 Apr 01, 2015 (144)
78 EVA_UK10K_ALSPAC ss1623275185 Apr 01, 2015 (144)
79 EVA_UK10K_TWINSUK ss1666269218 Apr 01, 2015 (144)
80 EVA_EXAC ss1689591100 Apr 01, 2015 (144)
81 EVA_MGP ss1711232249 Apr 01, 2015 (144)
82 EVA_SVP ss1713129282 Apr 01, 2015 (144)
83 ILLUMINA ss1752751632 Sep 08, 2015 (146)
84 HAMMER_LAB ss1806101580 Sep 08, 2015 (146)
85 WEILL_CORNELL_DGM ss1930154735 Feb 12, 2016 (147)
86 ILLUMINA ss1946264882 Feb 12, 2016 (147)
87 ILLUMINA ss1959203296 Feb 12, 2016 (147)
88 GENOMED ss1971276814 Jul 19, 2016 (147)
89 JJLAB ss2025795921 Sep 14, 2016 (149)
90 USC_VALOUEV ss2154024604 Dec 20, 2016 (150)
91 HUMAN_LONGEVITY ss2313325552 Dec 20, 2016 (150)
92 TOPMED ss2483818823 Dec 20, 2016 (150)
93 SYSTEMSBIOZJU ss2627366404 Nov 08, 2017 (151)
94 ILLUMINA ss2634898724 Nov 08, 2017 (151)
95 ILLUMINA ss2634898725 Nov 08, 2017 (151)
96 ILLUMINA ss2635197761 Nov 08, 2017 (151)
97 GRF ss2709900459 Nov 08, 2017 (151)
98 ILLUMINA ss2711168363 Nov 08, 2017 (151)
99 GNOMAD ss2737769414 Nov 08, 2017 (151)
100 GNOMAD ss2748236934 Nov 08, 2017 (151)
101 GNOMAD ss2881712918 Nov 08, 2017 (151)
102 AFFY ss2985468927 Nov 08, 2017 (151)
103 SWEGEN ss3005375187 Nov 08, 2017 (151)
104 ILLUMINA ss3022951140 Nov 08, 2017 (151)
105 EVA_SAMSUNG_MC ss3023064788 Nov 08, 2017 (151)
106 BIOINF_KMB_FNS_UNIBA ss3026679527 Nov 08, 2017 (151)
107 CSHL ss3348797065 Nov 08, 2017 (151)
108 TOPMED ss3597147558 Nov 08, 2017 (151)
109 ILLUMINA ss3625988526 Oct 12, 2018 (152)
110 ILLUMINA ss3630323277 Oct 12, 2018 (152)
111 ILLUMINA ss3632789124 Oct 12, 2018 (152)
112 ILLUMINA ss3633542948 Oct 12, 2018 (152)
113 ILLUMINA ss3634271633 Oct 12, 2018 (152)
114 ILLUMINA ss3635225550 Oct 12, 2018 (152)
115 ILLUMINA ss3635949419 Oct 12, 2018 (152)
116 ILLUMINA ss3636973963 Oct 12, 2018 (152)
117 ILLUMINA ss3637702767 Oct 12, 2018 (152)
118 ILLUMINA ss3638827748 Oct 12, 2018 (152)
119 ILLUMINA ss3639419169 Oct 12, 2018 (152)
120 ILLUMINA ss3639743042 Oct 12, 2018 (152)
121 ILLUMINA ss3640932840 Oct 12, 2018 (152)
122 ILLUMINA ss3643753622 Oct 12, 2018 (152)
123 ILLUMINA ss3644998206 Oct 12, 2018 (152)
124 OMUKHERJEE_ADBS ss3646396019 Oct 12, 2018 (152)
125 ILLUMINA ss3653504807 Oct 12, 2018 (152)
126 ILLUMINA ss3654233853 Oct 12, 2018 (152)
127 EGCUT_WGS ss3672911912 Jul 13, 2019 (153)
128 EVA_DECODE ss3724488404 Jul 13, 2019 (153)
129 ILLUMINA ss3726631129 Jul 13, 2019 (153)
130 ACPOP ss3736759490 Jul 13, 2019 (153)
131 ILLUMINA ss3744323386 Jul 13, 2019 (153)
132 ILLUMINA ss3745525471 Jul 13, 2019 (153)
133 EVA ss3769523935 Jul 13, 2019 (153)
134 ILLUMINA ss3773017374 Jul 13, 2019 (153)
135 PACBIO ss3786487611 Jul 13, 2019 (153)
136 PACBIO ss3791692774 Jul 13, 2019 (153)
137 PACBIO ss3796574252 Jul 13, 2019 (153)
138 KHV_HUMAN_GENOMES ss3812692033 Jul 13, 2019 (153)
139 1000Genomes NC_000009.11 - 107620867 Oct 12, 2018 (152)
140 The Avon Longitudinal Study of Parents and Children NC_000009.11 - 107620867 Oct 12, 2018 (152)
141 Genetic variation in the Estonian population NC_000009.11 - 107620867 Oct 12, 2018 (152)
142 ExAC NC_000009.11 - 107620867 Oct 12, 2018 (152)
143 gnomAD - Genomes NC_000009.11 - 107620867 Jul 13, 2019 (153)
144 gnomAD - Exomes NC_000009.11 - 107620867 Jul 13, 2019 (153)
145 Northern Sweden NC_000009.11 - 107620867 Jul 13, 2019 (153)
146 TopMed NC_000009.12 - 104858586 Oct 12, 2018 (152)
147 UK 10K study - Twins NC_000009.11 - 107620867 Oct 12, 2018 (152)
148 A Vietnamese Genetic Variation Database NC_000009.11 - 107620867 Jul 13, 2019 (153)
149 ClinVar RCV000010114.6 Jul 13, 2019 (153)
150 ClinVar RCV000310562.1 Oct 12, 2018 (152)
151 ClinVar RCV000367106.1 Oct 12, 2018 (152)
Help

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)
rs2234884 May 29, 2002 (105)
rs2853572 Jan 04, 2002 (102)
rs52801000 Sep 21, 2007 (128)
rs61696010 May 27, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78067773, ss84377835, ss3639419169, ss3639743042 NC_000009.9:104700421:C:T NC_000009.12:104858585:C:T (self)
ss108969840, ss114871255, ss115776822, ss164592760, ss165610295, ss200716253, ss254451140, ss280347982, ss294344365, ss480472823, ss491940424, ss825452289, ss1596476185, ss1713129282, ss2635197761, ss3643753622 NC_000009.10:106660687:C:T NC_000009.12:104858585:C:T (self)
47224608, 26231879, 18650160, 9722476, 129171615, 6955437, 10044355, 26231879, 5828447, ss224382337, ss234918476, ss241675666, ss342279560, ss480487159, ss481284970, ss485033889, ss490982234, ss491425866, ss537057790, ss561546673, ss656043960, ss779058581, ss782963190, ss783925206, ss832219430, ss832881990, ss834521702, ss974471669, ss986839517, ss1067505732, ss1076504987, ss1334925698, ss1431920139, ss1583204501, ss1584063636, ss1623275185, ss1666269218, ss1689591100, ss1711232249, ss1752751632, ss1806101580, ss1930154735, ss1946264882, ss1959203296, ss1971276814, ss2025795921, ss2154024604, ss2483818823, ss2627366404, ss2634898724, ss2634898725, ss2709900459, ss2711168363, ss2737769414, ss2748236934, ss2881712918, ss2985468927, ss3005375187, ss3022951140, ss3023064788, ss3348797065, ss3625988526, ss3630323277, ss3632789124, ss3633542948, ss3634271633, ss3635225550, ss3635949419, ss3636973963, ss3637702767, ss3638827748, ss3640932840, ss3644998206, ss3646396019, ss3653504807, ss3654233853, ss3672911912, ss3736759490, ss3744323386, ss3745525471, ss3769523935, ss3773017374, ss3786487611, ss3791692774, ss3796574252 NC_000009.11:107620866:C:T NC_000009.12:104858585:C:T (self)
RCV000010114.6, RCV000310562.1, RCV000367106.1, 417317216, ss244238744, ss342562846, ss2313325552, ss3026679527, ss3597147558, ss3724488404, ss3726631129, ss3812692033 NC_000009.12:104858585:C:T NC_000009.12:104858585:C:T (self)
ss10514830 NT_008470.15:9447285:C:T NC_000009.12:104858585:C:T (self)
ss15710351, ss20370337 NT_008470.16:9282394:C:T NC_000009.12:104858585:C:T (self)
ss3188685, ss3488736, ss5603801, ss12675189, ss22886412, ss43782758, ss48413631, ss65824203, ss66644090, ss67235627, ss67631739, ss68377571, ss69298514, ss70713958, ss71281654, ss74806961, ss75538321, ss76877191, ss79121771, ss84002031, ss120037348, ss121957475, ss153888389, ss157829796, ss159370162, ss159718829, ss160517657, ss161683862, ss171105150, ss173194659, ss244288064 NT_008470.19:36785398:C:T NC_000009.12:104858585:C:T (self)
Help

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

53 citations for rs2230806
PMID Title Author Year Journal
11238261 Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease. Clee SM et al. 2001 Circulation
12600718 ABCA1 modulates CSF cholesterol levels and influences the age at onset of Alzheimer's disease. Wollmer MA et al. 2003 Neurobiology of aging
12624133 A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia. Cenarro A et al. 2003 Journal of medical genetics
16372134 Quantitative trait loci in ABCA1 modify cerebrospinal fluid amyloid-beta 1-42 and plasma apolipoprotein levels. Katzov H et al. 2006 Journal of human genetics
16429166 Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene. Brunham LR et al. 2005 PLoS genetics
16725228 Gender-specific association of ATP-binding cassette transporter 1 (ABCA1) polymorphisms with the risk of late-onset Alzheimer's disease. Sundar PD et al. 2007 Neurobiology of aging
17324514 ABCA1 polymorphisms and Alzheimer's disease. Wavrant-De Vrièze F et al. 2007 Neuroscience letters
17430597 Apolipoprotein E levels in cerebrospinal fluid and the effects of ABCA1 polymorphisms. Wahrle SE et al. 2007 Molecular neurodegeneration
17553166 The effect of ABCA1 gene polymorphisms on ischaemic stroke risk and relationship with lipid profile. Pasdar A et al. 2007 BMC medical genetics
18974877 Modifier effects between regulatory and protein-coding variation. Dimas AS et al. 2008 PLoS genetics
19041386 Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review. Boes E et al. 2009 Experimental gerontology
19489872 Association of polymorphisms in genes involved in lipoprotein metabolism with plasma concentrations of remnant lipoproteins and HDL subpopulations before and after hormone therapy in postmenopausal women. Lamon-Fava S et al. 2010 Clinical endocrinology
19606474 A survey of ABCA1 sequence variation confirms association with dementia. Reynolds CA et al. 2009 Human mutation
19692220 The effects of ABCG5/G8 polymorphisms on HDL-cholesterol concentrations depend on ABCA1 genetic variants in the Boston Puerto Rican Health Study. Junyent M et al. 2010 Nutrition, metabolism, and cardiovascular diseases
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
20170916 Association of selected ABC gene family single nucleotide polymorphisms with postprandial lipoproteins: results from the population-based Hortega study. Abellán R et al. 2010 Atherosclerosis
20185793 ABCA1 gene variants regulate postprandial lipid metabolism in healthy men. Delgado-Lista J et al. 2010 Arteriosclerosis, thrombosis, and vascular biology
20188211 The role of ATP-binding cassette transporter A1 in Alzheimer's disease and neurodegeneration. Koldamova R et al. 2010 Biochimica et biophysica acta
20346718 Effect of fenofibrate therapy and ABCA1 polymorphisms on high-density lipoprotein subclasses in the Genetics of Lipid Lowering Drugs and Diet Network. Tsai MY et al. 2010 Molecular genetics and metabolism
20797885 Increase in HDL-C concentration by a dietary portfolio with soy protein and soluble fiber is associated with the presence of the ABCA1R230C variant in hyperlipidemic Mexican subjects. Guevara-Cruz M et al. 2010 Molecular genetics and metabolism
21310416 Associations of the ATP-binding cassette transporter A1 R219K polymorphism with HDL-C level and coronary artery disease risk: a meta-analysis. Ma XY et al. 2011 Atherosclerosis
22403555 A-Subclass ATP-Binding Cassette Proteins in Brain Lipid Homeostasis and Neurodegeneration. Piehler AP et al. 2012 Frontiers in psychiatry
22668585 Association of gender, ABCA1 gene polymorphisms and lipid profile in Greek young nurses. Kolovou V et al. 2012 Lipids in health and disease
22768049 Evolutionary responses to a constructed niche: ancient Mesoamericans as a model of gene-culture coevolution. Hünemeier T et al. 2012 PloS one
22833659 Gender and single nucleotide polymorphisms in MTHFR, BHMT, SPTLC1, CRBP2, CETP, and SCARB1 are significant predictors of plasma homocysteine normalized by RBC folate in healthy adults. Clifford AJ et al. 2012 The Journal of nutrition
22911757 Association study of candidate gene polymorphisms with amnestic mild cognitive impairment in a Chinese population. Liu X et al. 2012 PloS one
23021345 Gene-diet interactions on plasma lipid levels in the Inuit population. Rudkowska I et al. 2013 The British journal of nutrition
23039238 Several genetic polymorphisms interact with overweight/obesity to influence serum lipid levels. Yin RX et al. 2012 Cardiovascular diabetology
23111454 Quantitative assessment of the effect of ABCA1 gene polymorphism on the risk of Alzheimer's disease. Wang XF et al. 2013 Molecular biology reports
23372063 Genetic determination of plasma cholesterol efflux capacity is gender-specific and independent of HDL-cholesterol levels. Villard EF et al. 2013 Arteriosclerosis, thrombosis, and vascular biology
23497168 Omega-3 fatty acids, polymorphisms and lipid related cardiovascular disease risk factors in the Inuit population. Rudkowska I et al. 2013 Nutrition & metabolism
23533563 Novel risk factors for premature peripheral arterial occlusive disease in non-diabetic patients: a case-control study. Bérard AM et al. 2013 PloS one
23656756 Single nucleotide polymorphisms in CETP, SLC46A1, SLC19A1, CD36, BCMO1, APOA5, and ABCA1 are significant predictors of plasma HDL in healthy adults. Clifford AJ et al. 2013 Lipids in health and disease
24854628 ABCA1 gene variation and heart disease risk reduction in the elderly during pravastatin treatment. Akao H et al. 2014 Atherosclerosis
26243156 Functional and Structural Impact of ATP-Binding Cassette Transporter A1 R219K and I883M Gene Polymorphisms in Obese Children and Adolescents. Fawzy MS et al. 2015 Molecular diagnosis & therapy
26451383 Association of ATP-Binding Cassette Transporter A1 Gene Polymorphisms in Type 2 Diabetes Mellitus among Malaysians. Haghvirdizadeh P et al. 2015 Journal of diabetes research
26774504 Correlation Between ABCA1 Gene Polymorphism and aopA-I and HDL-C in Abdominal Aortic Aneurysm. Zhao L et al. 2016 Medical science monitor
26828509 Interactions of Six SNPs in ABCA1gene and Obesity in Low HDL-C Disease in Kazakh of China. Yao MH et al. 2016 International journal of environmental research and public health
26839654 Genetics of coronary artery disease and myocardial infarction. Dai X et al. 2016 World journal of cardiology
26891315 Association between Polymorphisms and Haplotype in the ABCA1 Gene and Overweight/Obesity Patients in the Uyghur Population of China. Yao MH et al. 2016 International journal of environmental research and public health
26936456 The impact of common polymorphisms in CETP and ABCA1 genes with the risk of coronary artery disease in Saudi Arabians. Cyrus C et al. 2016 Human genomics
26985771 Multiple genetic imaging study of the association between cholesterol metabolism and brain functional alterations in individuals with risk factors for Alzheimer's disease. Bai F et al. 2016 Oncotarget
27560308 Evaluation of Adenosine Triphosphate-Binding Cassette Transporter A1 (ABCA1) R219K and C-Reactive Protein Gene (CRP) +1059G/C Gene Polymorphisms in Susceptibility to Coronary Heart Disease. Li JF et al. 2016 Medical science monitor
28865324 The impact of APOA5, APOB, APOC3 and ABCA1 gene polymorphisms on ischemic stroke: Evidence from a meta-analysis. Au A et al. 2017 Atherosclerosis
29133174 ABCA1 rs2230805 and rs2230806 common gene variants are associated with Alzheimer's disease. Fehér Á et al. 2018 Neuroscience letters
29531587 Association Study of the <i>ATP - Binding Cassette Transporter A1 (ABCA1)</i> Rs2230806 Genetic Variation with Lipid Profile and Coronary Artery Disease Risk in an Iranian Population. Ghaznavi H et al. 2018 Open access Macedonian journal of medical sciences
29605487 Association between ABCA1 gene polymorphisms and the therapeutic response to donepezil therapy in Han Chinese patients with Alzheimer's disease. Lu J et al. 2018 Brain research bulletin
29621814 A Meta-Analysis of the Associations Between the ATP-Binding Cassette Transporter ABCA1 R219K (rs2230806) Polymorphism and the Risk of Type 2 Diabetes in Asians. Jung D et al. 2018 Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme
29879747 Correction: A Meta-Analysis of the Associations Between the ATP-Binding Cassette Transporter ABCA1 R219K (rs2230806) Polymorphism and the Risk of Type 2 Diabetes in Asians. Jung D et al. 2018 Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme
30558007 Associations of the ABCA1 gene polymorphisms with plasma lipid levels: A meta-analysis. Lu Z et al. 2018 Medicine
30720955 [The effect of ABCA1 rs2230806 common gene variant on plasma lipid levels in patients with dyslipidemia.] Smirnov GP et al. 2018 Klinicheskaia laboratornaia diagnostika
31006134 ABCA1 variants rs2230806 (R219K), rs4149313 (M8831I), and rs9282541 (R230C) are associated with susceptibility to coronary heart disease. Wang F et al. 2019 Journal of clinical laboratory analysis
31150543 Association of ABCA1 Haplotypes with Coronary Artery Disease. Fouladseresht H et al. 2019 Laboratory medicine

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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