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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs2242446

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr16:55656513 (GRCh38.p14) 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>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.283916 (83373/293654, ALFA)
C=0.250599 (66331/264690, TOPMED)
C=0.251477 (35165/139834, GnomAD) (+ 21 more)
C=0.24106 (18926/78510, PAGE_STUDY)
C=0.36743 (10382/28256, 14KJPN)
C=0.36693 (6149/16758, 8.3KJPN)
C=0.2447 (1567/6404, 1000G_30x)
C=0.2470 (1237/5008, 1000G)
C=0.2873 (1287/4480, Estonian)
C=0.2932 (1130/3854, ALSPAC)
C=0.2845 (1055/3708, TWINSUK)
C=0.3286 (962/2928, KOREAN)
C=0.2682 (559/2084, HGDP_Stanford)
C=0.2548 (482/1892, HapMap)
C=0.3144 (564/1794, Korea1K)
C=0.301 (238/790, PRJEB37584)
C=0.267 (160/600, NorthernSweden)
C=0.177 (91/514, SGDP_PRJ)
C=0.255 (130/510, PharmGKB)
C=0.310 (67/216, Qatari)
C=0.348 (73/210, Vietnamese)
C=0.33 (20/60, Ancient Sardinia)
C=0.17 (9/52, Siberian)
C=0.23 (9/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SLC6A2 : Intron Variant
LOC124903693 : 2KB Upstream Variant
Publications
32 citations
Genomic View
See rs on genome

ALFA Allele Frequency
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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 298690 C=0.283468 A=0.000000, T=0.716532
European Sub 263316 C=0.287457 A=0.000000, T=0.712543
African Sub 9416 C=0.1946 A=0.0000, T=0.8054
African Others Sub 352 C=0.173 A=0.000, T=0.827
African American Sub 9064 C=0.1954 A=0.0000, T=0.8046
Asian Sub 3806 C=0.3135 A=0.0000, T=0.6865
East Asian Sub 3080 C=0.3247 A=0.0000, T=0.6753
Other Asian Sub 726 C=0.266 A=0.000, T=0.734
Latin American 1 Sub 996 C=0.265 A=0.000, T=0.735
Latin American 2 Sub 6642 C=0.2450 A=0.0000, T=0.7550
South Asian Sub 5128 C=0.2742 A=0.0000, T=0.7258
Other Sub 9386 C=0.2829 A=0.0000, T=0.7171


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
Allele Frequency Aggregator Total Global 293654 C=0.283916 A=0.000000, T=0.716084
Allele Frequency Aggregator European Sub 260222 C=0.287401 A=0.000000, T=0.712599
Allele Frequency Aggregator Other Sub 8586 C=0.2870 A=0.0000, T=0.7130
Allele Frequency Aggregator African Sub 8274 C=0.1971 A=0.0000, T=0.8029
Allele Frequency Aggregator Latin American 2 Sub 6642 C=0.2450 A=0.0000, T=0.7550
Allele Frequency Aggregator South Asian Sub 5128 C=0.2742 A=0.0000, T=0.7258
Allele Frequency Aggregator Asian Sub 3806 C=0.3135 A=0.0000, T=0.6865
Allele Frequency Aggregator Latin American 1 Sub 996 C=0.265 A=0.000, T=0.735
TopMed Global Study-wide 264690 C=0.250599 T=0.749401
gnomAD - Genomes Global Study-wide 139834 C=0.251477 T=0.748523
gnomAD - Genomes European Sub 75752 C=0.28286 T=0.71714
gnomAD - Genomes African Sub 41866 C=0.18822 T=0.81178
gnomAD - Genomes American Sub 13626 C=0.24769 T=0.75231
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=0.2930 T=0.7070
gnomAD - Genomes East Asian Sub 3122 C=0.3104 T=0.6896
gnomAD - Genomes Other Sub 2144 C=0.2519 T=0.7481
The PAGE Study Global Study-wide 78510 C=0.24106 T=0.75894
The PAGE Study AfricanAmerican Sub 32432 C=0.19206 T=0.80794
The PAGE Study Mexican Sub 10792 C=0.23768 T=0.76232
The PAGE Study Asian Sub 8304 C=0.3521 T=0.6479
The PAGE Study PuertoRican Sub 7894 C=0.2536 T=0.7464
The PAGE Study NativeHawaiian Sub 4514 C=0.3257 T=0.6743
The PAGE Study Cuban Sub 4224 C=0.2791 T=0.7209
The PAGE Study Dominican Sub 3816 C=0.2390 T=0.7610
The PAGE Study CentralAmerican Sub 2444 C=0.2643 T=0.7357
The PAGE Study SouthAmerican Sub 1980 C=0.2253 T=0.7747
The PAGE Study NativeAmerican Sub 1254 C=0.2536 T=0.7464
The PAGE Study SouthAsian Sub 856 C=0.275 T=0.725
14KJPN JAPANESE Study-wide 28256 C=0.36743 T=0.63257
8.3KJPN JAPANESE Study-wide 16758 C=0.36693 T=0.63307
1000Genomes_30x Global Study-wide 6404 C=0.2447 T=0.7553
1000Genomes_30x African Sub 1786 C=0.1708 T=0.8292
1000Genomes_30x Europe Sub 1266 C=0.2662 T=0.7338
1000Genomes_30x South Asian Sub 1202 C=0.2795 T=0.7205
1000Genomes_30x East Asian Sub 1170 C=0.3111 T=0.6889
1000Genomes_30x American Sub 980 C=0.230 T=0.770
1000Genomes Global Study-wide 5008 C=0.2470 T=0.7530
1000Genomes African Sub 1322 C=0.1793 T=0.8207
1000Genomes East Asian Sub 1008 C=0.3155 T=0.6845
1000Genomes Europe Sub 1006 C=0.2575 T=0.7425
1000Genomes South Asian Sub 978 C=0.274 T=0.726
1000Genomes American Sub 694 C=0.223 T=0.777
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.2873 T=0.7127
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.2932 T=0.7068
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.2845 T=0.7155
KOREAN population from KRGDB KOREAN Study-wide 2928 C=0.3286 G=0.0000, T=0.6714
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.2682 T=0.7318
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.328 T=0.672
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.215 T=0.785
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.351 T=0.649
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.331 T=0.669
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.194 T=0.806
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.176 T=0.824
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.03 T=0.97
HapMap Global Study-wide 1892 C=0.2548 T=0.7452
HapMap American Sub 770 C=0.260 T=0.740
HapMap African Sub 692 C=0.231 T=0.769
HapMap Asian Sub 254 C=0.323 T=0.677
HapMap Europe Sub 176 C=0.227 T=0.773
Korean Genome Project KOREAN Study-wide 1794 C=0.3144 T=0.6856
CNV burdens in cranial meningiomas Global Study-wide 790 C=0.301 T=0.699
CNV burdens in cranial meningiomas CRM Sub 790 C=0.301 T=0.699
Northern Sweden ACPOP Study-wide 600 C=0.267 T=0.733
SGDP_PRJ Global Study-wide 514 C=0.177 T=0.823
PharmGKB Aggregated Global Study-wide 510 C=0.255 T=0.745
PharmGKB Aggregated PA163004589 Sub 510 C=0.255 T=0.745
Qatari Global Study-wide 216 C=0.310 T=0.690
A Vietnamese Genetic Variation Database Global Study-wide 210 C=0.348 T=0.652
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 60 C=0.33 T=0.67
Siberian Global Study-wide 52 C=0.17 T=0.83
The Danish reference pan genome Danish Study-wide 40 C=0.23 T=0.78
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.p14 chr 16 NC_000016.10:g.55656513C>A
GRCh38.p14 chr 16 NC_000016.10:g.55656513C>G
GRCh38.p14 chr 16 NC_000016.10:g.55656513C>T
GRCh37.p13 chr 16 NC_000016.9:g.55690425C>A
GRCh37.p13 chr 16 NC_000016.9:g.55690425C>G
GRCh37.p13 chr 16 NC_000016.9:g.55690425C>T
SLC6A2 RefSeqGene NG_016969.1:g.5884C>A
SLC6A2 RefSeqGene NG_016969.1:g.5884C>G
SLC6A2 RefSeqGene NG_016969.1:g.5884C>T
Gene: SLC6A2, solute carrier family 6 member 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SLC6A2 transcript variant 2 NM_001172501.3:c.-51-131C…

NM_001172501.3:c.-51-131C>A

 		N/A Intron Variant
SLC6A2 transcript variant 3 NM_001043.3:c.-182= N/A 5 Prime UTR Variant
SLC6A2 transcript variant 4 NM_001172502.1:c. N/A Genic Upstream Transcript Variant
SLC6A2 transcript variant 1 NM_001172504.1:c. N/A Genic Upstream Transcript Variant
SLC6A2 transcript variant X1 XM_006721263.2:c.-51-131C…

XM_006721263.2:c.-51-131C>A

 		N/A Intron Variant
SLC6A2 transcript variant X2 XM_011523295.3:c.-51-131C…

XM_011523295.3:c.-51-131C>A

 		N/A Intron Variant
SLC6A2 transcript variant X3 XM_047434510.1:c.-51-131C…

XM_047434510.1:c.-51-131C>A

 		N/A Intron Variant
SLC6A2 transcript variant X4 XM_047434511.1:c.-51-131C…

XM_047434511.1:c.-51-131C>A

 		N/A Intron Variant
SLC6A2 transcript variant X5 XM_047434512.1:c.-51-131C…

XM_047434512.1:c.-51-131C>A

 		N/A Intron Variant
SLC6A2 transcript variant X6 XM_047434513.1:c.-51-131C…

XM_047434513.1:c.-51-131C>A

 		N/A Intron Variant
SLC6A2 transcript variant X7 XM_011523299.3:c. N/A Genic Upstream Transcript Variant
SLC6A2 transcript variant X8 XM_011523300.3:c. N/A Genic Upstream Transcript Variant
Gene: LOC124903693, uncharacterized LOC124903693 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
LOC124903693 transcript XR_007065075.1:n. N/A Upstream 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.

Not Reported in ClinVar
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= A G T
GRCh38.p14 chr 16 NC_000016.10:g.55656513= NC_000016.10:g.55656513C>A NC_000016.10:g.55656513C>G NC_000016.10:g.55656513C>T
GRCh37.p13 chr 16 NC_000016.9:g.55690425= NC_000016.9:g.55690425C>A NC_000016.9:g.55690425C>G NC_000016.9:g.55690425C>T
SLC6A2 RefSeqGene NG_016969.1:g.5884= NG_016969.1:g.5884C>A NG_016969.1:g.5884C>G NG_016969.1:g.5884C>T
SLC6A2 transcript variant 3 NM_001043.3:c.-182= NM_001043.3:c.-182C>A NM_001043.3:c.-182C>G NM_001043.3:c.-182C>T
SLC6A2 transcript variant 2 NM_001172501.1:c.-51-131= NM_001172501.1:c.-51-131C>A NM_001172501.1:c.-51-131C>G NM_001172501.1:c.-51-131C>T
SLC6A2 transcript variant 2 NM_001172501.3:c.-51-131= NM_001172501.3:c.-51-131C>A NM_001172501.3:c.-51-131C>G NM_001172501.3:c.-51-131C>T
SLC6A2 transcript variant X1 XM_006721263.2:c.-51-131= XM_006721263.2:c.-51-131C>A XM_006721263.2:c.-51-131C>G XM_006721263.2:c.-51-131C>T
SLC6A2 transcript variant X2 XM_011523295.3:c.-51-131= XM_011523295.3:c.-51-131C>A XM_011523295.3:c.-51-131C>G XM_011523295.3:c.-51-131C>T
SLC6A2 transcript variant X3 XM_047434510.1:c.-51-131= XM_047434510.1:c.-51-131C>A XM_047434510.1:c.-51-131C>G XM_047434510.1:c.-51-131C>T
SLC6A2 transcript variant X4 XM_047434511.1:c.-51-131= XM_047434511.1:c.-51-131C>A XM_047434511.1:c.-51-131C>G XM_047434511.1:c.-51-131C>T
SLC6A2 transcript variant X5 XM_047434512.1:c.-51-131= XM_047434512.1:c.-51-131C>A XM_047434512.1:c.-51-131C>G XM_047434512.1:c.-51-131C>T
SLC6A2 transcript variant X6 XM_047434513.1:c.-51-131= XM_047434513.1:c.-51-131C>A XM_047434513.1:c.-51-131C>G XM_047434513.1:c.-51-131C>T
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#.

139 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3198762 Aug 15, 2001 (98)
2 ILLUMINA ss66644236 Nov 29, 2006 (127)
3 ILLUMINA ss67237112 Nov 29, 2006 (127)
4 ILLUMINA ss67633367 Nov 29, 2006 (127)
5 ILLUMINA ss70715440 May 25, 2008 (130)
6 ILLUMINA ss71283278 May 16, 2007 (127)
7 ILLUMINA ss75543556 Dec 07, 2007 (129)
8 HGSV ss78112646 Dec 07, 2007 (129)
9 ILLUMINA ss79122869 Dec 15, 2007 (130)
10 HGSV ss81249933 Dec 15, 2007 (130)
11 KRIBB_YJKIM ss84006553 Dec 15, 2007 (130)
12 HGSV ss84528918 Dec 15, 2007 (130)
13 BCMHGSC_JDW ss90401906 Mar 24, 2008 (129)
14 BGI ss106473245 Feb 05, 2009 (130)
15 1000GENOMES ss115128225 Jan 25, 2009 (130)
16 ILLUMINA-UK ss118262503 Feb 14, 2009 (130)
17 ILLUMINA ss121963886 Dec 01, 2009 (131)
18 ENSEMBL ss133794167 Dec 01, 2009 (131)
19 ENSEMBL ss136737309 Dec 01, 2009 (131)
20 ILLUMINA ss153892670 Dec 01, 2009 (131)
21 GMI ss157386418 Dec 01, 2009 (131)
22 ILLUMINA ss159371762 Dec 01, 2009 (131)
23 ILLUMINA ss160520574 Dec 01, 2009 (131)
24 COMPLETE_GENOMICS ss168255953 Jul 04, 2010 (132)
25 ILLUMINA ss171117651 Jul 04, 2010 (132)
26 ILLUMINA ss173208990 Jul 04, 2010 (132)
27 BUSHMAN ss201727157 Jul 04, 2010 (132)
28 BCM-HGSC-SUB ss207715222 Jul 04, 2010 (132)
29 1000GENOMES ss210896737 Jul 14, 2010 (132)
30 1000GENOMES ss227256605 Jul 14, 2010 (132)
31 1000GENOMES ss237035557 Jul 15, 2010 (132)
32 1000GENOMES ss243372927 Jul 15, 2010 (132)
33 BL ss255722301 May 09, 2011 (134)
34 GMI ss282542108 May 04, 2012 (137)
35 PHARMGKB_PMT ss290492598 May 09, 2011 (134)
36 PJP ss291848436 May 09, 2011 (134)
37 ILLUMINA ss480481611 May 04, 2012 (137)
38 ILLUMINA ss480495981 May 04, 2012 (137)
39 ILLUMINA ss481296621 Sep 08, 2015 (146)
40 ILLUMINA ss485038294 May 04, 2012 (137)
41 ILLUMINA ss535980610 Sep 08, 2015 (146)
42 SSMP ss660688859 Apr 25, 2013 (138)
43 ILLUMINA ss778487269 Sep 08, 2015 (146)
44 ILLUMINA ss782965386 Sep 08, 2015 (146)
45 ILLUMINA ss783927216 Sep 08, 2015 (146)
46 ILLUMINA ss825453387 Apr 01, 2015 (144)
47 ILLUMINA ss832221655 Sep 08, 2015 (146)
48 ILLUMINA ss832883583 Jul 13, 2019 (153)
49 ILLUMINA ss833943221 Sep 08, 2015 (146)
50 EVA-GONL ss992515737 Aug 21, 2014 (142)
51 PMT ss1040217376 Aug 21, 2014 (142)
52 JMKIDD_LAB ss1080642998 Aug 21, 2014 (142)
53 1000GENOMES ss1356350628 Aug 21, 2014 (142)
54 DDI ss1427855340 Apr 01, 2015 (144)
55 EVA_GENOME_DK ss1577924552 Apr 01, 2015 (144)
56 EVA_UK10K_ALSPAC ss1634478623 Apr 01, 2015 (144)
57 EVA_UK10K_TWINSUK ss1677472656 Apr 01, 2015 (144)
58 EVA_DECODE ss1696550321 Apr 01, 2015 (144)
59 EVA_SVP ss1713541207 Apr 01, 2015 (144)
60 ILLUMINA ss1752195320 Sep 08, 2015 (146)
61 HAMMER_LAB ss1808524803 Sep 08, 2015 (146)
62 WEILL_CORNELL_DGM ss1935951974 Feb 12, 2016 (147)
63 ILLUMINA ss1946415396 Feb 12, 2016 (147)
64 ILLUMINA ss1959680750 Feb 12, 2016 (147)
65 GENOMED ss1968267687 Jul 19, 2016 (147)
66 JJLAB ss2028759050 Sep 14, 2016 (149)
67 USC_VALOUEV ss2157195371 Dec 20, 2016 (150)
68 HUMAN_LONGEVITY ss2212376426 Dec 20, 2016 (150)
69 SYSTEMSBIOZJU ss2628871139 Nov 08, 2017 (151)
70 ILLUMINA ss2633321364 Nov 08, 2017 (151)
71 GRF ss2701719260 Nov 08, 2017 (151)
72 ILLUMINA ss2710833941 Nov 08, 2017 (151)
73 GNOMAD ss2943307591 Nov 08, 2017 (151)
74 SWEGEN ss3014555086 Nov 08, 2017 (151)
75 ILLUMINA ss3021708421 Nov 08, 2017 (151)
76 BIOINF_KMB_FNS_UNIBA ss3028198174 Nov 08, 2017 (151)
77 CSHL ss3351463925 Nov 08, 2017 (151)
78 ILLUMINA ss3625693427 Oct 12, 2018 (152)
79 ILLUMINA ss3627529095 Oct 12, 2018 (152)
80 ILLUMINA ss3631307580 Oct 12, 2018 (152)
81 ILLUMINA ss3633121584 Oct 12, 2018 (152)
82 ILLUMINA ss3633827687 Oct 12, 2018 (152)
83 ILLUMINA ss3634643134 Oct 12, 2018 (152)
84 ILLUMINA ss3635515977 Oct 12, 2018 (152)
85 ILLUMINA ss3636334616 Oct 12, 2018 (152)
86 ILLUMINA ss3637267414 Oct 12, 2018 (152)
87 ILLUMINA ss3638126545 Oct 12, 2018 (152)
88 ILLUMINA ss3639074689 Oct 12, 2018 (152)
89 ILLUMINA ss3639543560 Oct 12, 2018 (152)
90 ILLUMINA ss3640350453 Oct 12, 2018 (152)
91 ILLUMINA ss3643107658 Oct 12, 2018 (152)
92 ILLUMINA ss3644668476 Oct 12, 2018 (152)
93 URBANLAB ss3650515924 Oct 12, 2018 (152)
94 ILLUMINA ss3652117361 Oct 12, 2018 (152)
95 EGCUT_WGS ss3681532627 Jul 13, 2019 (153)
96 EVA_DECODE ss3699314251 Jul 13, 2019 (153)
97 ILLUMINA ss3725564046 Jul 13, 2019 (153)
98 ACPOP ss3741533436 Jul 13, 2019 (153)
99 ILLUMINA ss3744141527 Jul 13, 2019 (153)
100 ILLUMINA ss3744943564 Jul 13, 2019 (153)
101 EVA ss3753969487 Jul 13, 2019 (153)
102 PAGE_CC ss3771881125 Jul 13, 2019 (153)
103 ILLUMINA ss3772441826 Jul 13, 2019 (153)
104 KHV_HUMAN_GENOMES ss3819257127 Jul 13, 2019 (153)
105 EVA ss3825879381 Apr 27, 2020 (154)
106 EVA ss3834583134 Apr 27, 2020 (154)
107 EVA ss3840897260 Apr 27, 2020 (154)
108 EVA ss3846389173 Apr 27, 2020 (154)
109 HGDP ss3847546041 Apr 27, 2020 (154)
110 SGDP_PRJ ss3884492108 Apr 27, 2020 (154)
111 KRGDB ss3933982092 Apr 27, 2020 (154)
112 KOGIC ss3977640034 Apr 27, 2020 (154)
113 EVA ss3984713272 Apr 26, 2021 (155)
114 EVA ss3985758408 Apr 26, 2021 (155)
115 TOPMED ss5016299615 Apr 26, 2021 (155)
116 TOMMO_GENOMICS ss5219689672 Apr 26, 2021 (155)
117 EVA ss5237234428 Apr 26, 2021 (155)
118 1000G_HIGH_COVERAGE ss5301051299 Oct 16, 2022 (156)
119 EVA ss5315839881 Oct 16, 2022 (156)
120 EVA ss5423882100 Oct 16, 2022 (156)
121 HUGCELL_USP ss5494394345 Oct 16, 2022 (156)
122 EVA ss5511617821 Oct 16, 2022 (156)
123 1000G_HIGH_COVERAGE ss5603747047 Oct 16, 2022 (156)
124 EVA ss5624062556 Oct 16, 2022 (156)
125 SANFORD_IMAGENETICS ss5624380746 Oct 16, 2022 (156)
126 SANFORD_IMAGENETICS ss5658955905 Oct 16, 2022 (156)
127 TOMMO_GENOMICS ss5774732996 Oct 16, 2022 (156)
128 EVA ss5799958516 Oct 16, 2022 (156)
129 EVA ss5800200925 Oct 16, 2022 (156)
130 YY_MCH ss5815995589 Oct 16, 2022 (156)
131 EVA ss5846445105 Oct 16, 2022 (156)
132 EVA ss5847462946 Oct 16, 2022 (156)
133 EVA ss5847771720 Oct 16, 2022 (156)
134 EVA ss5851576595 Oct 16, 2022 (156)
135 EVA ss5899205820 Oct 16, 2022 (156)
136 EVA ss5950349184 Oct 16, 2022 (156)
137 EVA ss5979486073 Oct 16, 2022 (156)
138 EVA ss5980922418 Oct 16, 2022 (156)
139 EVA ss5981295362 Oct 16, 2022 (156)
140 1000Genomes NC_000016.9 - 55690425 Oct 12, 2018 (152)
141 1000Genomes_30x NC_000016.10 - 55656513 Oct 16, 2022 (156)
142 The Avon Longitudinal Study of Parents and Children NC_000016.9 - 55690425 Oct 12, 2018 (152)
143 Genetic variation in the Estonian population NC_000016.9 - 55690425 Oct 12, 2018 (152)
144 The Danish reference pan genome NC_000016.9 - 55690425 Apr 27, 2020 (154)
145 gnomAD - Genomes NC_000016.10 - 55656513 Apr 26, 2021 (155)
146 HGDP-CEPH-db Supplement 1 NC_000016.8 - 54247926 Apr 27, 2020 (154)
147 HapMap NC_000016.10 - 55656513 Apr 27, 2020 (154)
148 KOREAN population from KRGDB NC_000016.9 - 55690425 Apr 27, 2020 (154)
149 Korean Genome Project NC_000016.10 - 55656513 Apr 27, 2020 (154)
150 Northern Sweden NC_000016.9 - 55690425 Jul 13, 2019 (153)
151 The PAGE Study NC_000016.10 - 55656513 Jul 13, 2019 (153)
152 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000016.9 - 55690425 Apr 26, 2021 (155)
153 CNV burdens in cranial meningiomas NC_000016.9 - 55690425 Apr 26, 2021 (155)
154 PharmGKB Aggregated NC_000016.10 - 55656513 Apr 27, 2020 (154)
155 Qatari NC_000016.9 - 55690425 Apr 27, 2020 (154)
156 SGDP_PRJ NC_000016.9 - 55690425 Apr 27, 2020 (154)
157 Siberian NC_000016.9 - 55690425 Apr 27, 2020 (154)
158 8.3KJPN NC_000016.9 - 55690425 Apr 26, 2021 (155)
159 14KJPN NC_000016.10 - 55656513 Oct 16, 2022 (156)
160 TopMed NC_000016.10 - 55656513 Apr 26, 2021 (155)
161 UK 10K study - Twins NC_000016.9 - 55690425 Oct 12, 2018 (152)
162 A Vietnamese Genetic Variation Database NC_000016.9 - 55690425 Jul 13, 2019 (153)
163 ALFA NC_000016.10 - 55656513 Apr 26, 2021 (155)
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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)
rs59199002 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
4758722517 NC_000016.10:55656512:C:A NC_000016.10:55656512:C:A (self)
41159486, ss3933982092 NC_000016.9:55690424:C:G NC_000016.10:55656512:C:G (self)
223933, ss78112646, ss81249933, ss84528918, ss90401906, ss115128225, ss118262503, ss168255953, ss201727157, ss207715222, ss210896737, ss255722301, ss282542108, ss291848436, ss480481611, ss825453387, ss1696550321, ss1713541207, ss3639074689, ss3639543560, ss3643107658, ss3847546041 NC_000016.8:54247925:C:T NC_000016.10:55656512:C:T (self)
69516414, 38560122, 27270875, 4136645, 41159486, 14818301, 984335, 262807, 17993896, 36509088, 9711725, 77658979, 38560122, 8554906, ss227256605, ss237035557, ss243372927, ss480495981, ss481296621, ss485038294, ss535980610, ss660688859, ss778487269, ss782965386, ss783927216, ss832221655, ss832883583, ss833943221, ss992515737, ss1040217376, ss1080642998, ss1356350628, ss1427855340, ss1577924552, ss1634478623, ss1677472656, ss1752195320, ss1808524803, ss1935951974, ss1946415396, ss1959680750, ss1968267687, ss2028759050, ss2157195371, ss2628871139, ss2633321364, ss2701719260, ss2710833941, ss2943307591, ss3014555086, ss3021708421, ss3351463925, ss3625693427, ss3627529095, ss3631307580, ss3633121584, ss3633827687, ss3634643134, ss3635515977, ss3636334616, ss3637267414, ss3638126545, ss3640350453, ss3644668476, ss3652117361, ss3681532627, ss3741533436, ss3744141527, ss3744943564, ss3753969487, ss3772441826, ss3825879381, ss3834583134, ss3840897260, ss3884492108, ss3933982092, ss3984713272, ss3985758408, ss5219689672, ss5315839881, ss5423882100, ss5511617821, ss5624062556, ss5624380746, ss5658955905, ss5799958516, ss5800200925, ss5846445105, ss5847462946, ss5847771720, ss5950349184, ss5979486073, ss5980922418, ss5981295362 NC_000016.9:55690424:C:T NC_000016.10:55656512:C:T (self)
91272982, 490329804, 1387705, 34018035, 1102594, 4227, 108570100, 231845276, 4758722517, ss2212376426, ss3028198174, ss3650515924, ss3699314251, ss3725564046, ss3771881125, ss3819257127, ss3846389173, ss3977640034, ss5016299615, ss5237234428, ss5301051299, ss5494394345, ss5603747047, ss5774732996, ss5815995589, ss5851576595, ss5899205820 NC_000016.10:55656512:C:T NC_000016.10:55656512:C:T (self)
ss3198762, ss66644236, ss67237112, ss67633367, ss70715440, ss71283278, ss75543556, ss79122869, ss84006553, ss106473245, ss121963886, ss133794167, ss136737309, ss153892670, ss157386418, ss159371762, ss160520574, ss171117651, ss173208990, ss290492598 NT_010498.15:9304623:C:T NC_000016.10:55656512:C:T (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

32 citations for rs2242446
PMID Title Author Year Journal
15722184 Norepinephrine transporter (NET) promoter and 5'-UTR polymorphisms: association analysis in panic disorder. Lee YJ et al. 2005 Neuroscience letters
17630229 Norepinephrine transporter polymorphisms T-182C and G1287A are not associated with alcohol dependence and its clinical subgroups. Huang SY et al. 2008 Drug and alcohol dependence
18081710 Multivariate permutation analysis associates multiple polymorphisms with subphenotypes of major depression. Hahn MK et al. 2008 Genes, brain, and behavior
18779921 The combined effect of norepinephrine transporter gene and negative life events in major depression of Chinese Han population. Sun N et al. 2008 Journal of neural transmission (Vienna, Austria
18821566 SNPs in dopamine D2 receptor gene (DRD2) and norepinephrine transporter gene (NET) are associated with continuous performance task (CPT) phenotypes in ADHD children and their families. Kollins SH et al. 2008 American journal of medical genetics. Part B, Neuropsychiatric genetics
19693267 Financial and psychological risk attitudes associated with two single nucleotide polymorphisms in the nicotine receptor (CHRNA4) gene. Roe BE et al. 2009 PloS one
20863575 Lack of association between response of OROS-methylphenidate and norepinephrine transporter (SLC6A2) polymorphism in Korean ADHD. Lee SH et al. 2011 Psychiatry research
21412203 Genetic variation in the presynaptic norepinephrine transporter is associated with blood pressure responses to exercise in healthy humans. Kohli U et al. 2011 Pharmacogenetics and genomics
21687501 Pharmacogenetics of antidepressants. Crisafulli C et al. 2011 Frontiers in pharmacology
23185385 Comprehensive phenotype/genotype analyses of the norepinephrine transporter gene (SLC6A2) in ADHD: relation to maternal smoking during pregnancy. Thakur GA et al. 2012 PloS one
23442739 Psychomotor depressive symptoms may differentially respond to venlafaxine. Singh AB et al. 2013 International clinical psychopharmacology
23648227 Association between major depressive disorder and the norepinephrine transporter polymorphisms T-182C and G1287A: a meta-analysis. Zhao X et al. 2013 Journal of affective disorders
24655776 Association between norepinephrine transporter gene (SLC6A2) polymorphisms and suicide in patients with major depressive disorder. Kim YK et al. 2014 Journal of affective disorders
24881125 From pharmacogenetics to pharmacogenomics: the way toward the personalization of antidepressant treatment. Fabbri C et al. 2014 Canadian journal of psychiatry. Revue canadienne de psychiatrie
25912538 Effects of persisting emotional impact from child abuse and norepinephrine transporter genetic variation on antidepressant efficacy in major depression: a pilot study. Singh AB et al. 2015 Clinical psychopharmacology and neuroscience
25990886 Impact of monoamine-related gene polymorphisms on hippocampal volume in treatment-resistant depression. Phillips JL et al. 2015 Acta neuropsychiatrica
26508020 Potential involvement of NET polymorphism in serotonin/norepinephrine reuptake inhibitor response in panic disorder. Park HJ et al. 2016 Nordic journal of psychiatry
26678348 Effects of norepinephrine transporter gene variants on NET binding in ADHD and healthy controls investigated by PET. Sigurdardottir HL et al. 2016 Human brain mapping
27147943 Neuroendocrinological and Epigenetic Mechanisms Subserving Autonomic Imbalance and HPA Dysfunction in the Metabolic Syndrome. Lemche E et al. 2016 Frontiers in neuroscience
27541794 Investigating the genetic basis of attention to facial expressions: the role of the norepinephrine transporter gene. Yang X et al. 2016 Psychiatric genetics
28068779 Norepinephrine Transporter Gene Variants and Remission From Depression With Venlafaxine Treatment in Older Adults. Marshe VS et al. 2017 The American journal of psychiatry
28454051 No association between SLC6A2, SLC6A3, DRD2 polymorphisms and schizophrenia in the Han Chinese population. Bi Y et al. 2017 Psychiatry research
29198060 No major role of norepinephrine transporter gene variations in the cardiostimulant effects of MDMA. Vizeli P et al. 2018 European journal of clinical pharmacology
29374517 Association analysis of norepinephrine transporter polymorphisms and methylphenidate response in ADHD patients. Angyal N et al. 2018 Progress in neuro-psychopharmacology & biological psychiatry
29703117 Association between T-182C, G1287A polymorphism in NET gene and suicidality in major depressive disorder in Chinese patients. Cao SX et al. 2018 International journal of psychiatry in clinical practice
30093869 Biological Predictors of Clozapine Response: A Systematic Review. Samanaite R et al. 2018 Frontiers in psychiatry
30292339 Meta-analysis on the Association Between Norepinephrine Transporter Gene rs2242446, rs5569 Polymorphisms and Risk of Major Depressive Disorder. Rui H et al. 2018 Archives of medical research
30692908 Differential Genetic Effect of the Norepinephrine Transporter Promoter Polymorphisms on Attention Problems in Clinical and Non-clinical Samples. Nemoda Z et al. 2018 Frontiers in neuroscience
32339102 Age-dependent association of polymorphisms in the promoter and 5'-untranslated region of the norepinephrine transporter gene with generalized anxiety disorder. Chang HA et al. 2020 Journal of affective disorders
33290143 The T-182C Polymorphism Enhances Promoter Activity of the Norepinephrine Transporter Gene, but may not be Associated with Antidepressant Response. Zhao X et al. 2020 Genetic testing and molecular biomarkers
33340618 Association between genetic variants of the norepinephrine transporter gene (SLC6A2) and bipolar I disorder. Kim SY et al. 2021 Progress in neuro-psychopharmacology & biological psychiatry
34797323 Noradrenergic genes polymorphisms and response to methylphenidate in children with ADHD: A systematic review and meta-analysis. Yuan D et al. 2021 Medicine
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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.post761+d5e8e07