Name: rs3785143
Published: September 21, 2022
License: Open Access

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.

rs3785143

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr16:55661194 (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>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.085288 (22575/264690, TOPMED)
T=0.083973 (11773/140200, GnomAD)
T=0.09980 (9008/90258, ALFA) (+ 21 more)
T=0.20684 (5845/28258, 14KJPN)
T=0.20686 (3467/16760, 8.3KJPN)
T=0.1035 (663/6404, 1000G_30x)
T=0.1048 (525/5008, 1000G)
T=0.1125 (504/4480, Estonian)
T=0.1017 (392/3854, ALSPAC)
T=0.1081 (401/3708, TWINSUK)
T=0.1969 (577/2930, KOREAN)
T=0.1171 (244/2084, HGDP_Stanford)
T=0.0883 (169/1914, HapMap)
T=0.1845 (338/1832, Korea1K)
T=0.074 (74/998, GoNL)
T=0.147 (116/790, PRJEB37584)
T=0.064 (40/626, Chileans)
T=0.133 (80/600, NorthernSweden)
T=0.088 (19/216, Qatari)
T=0.107 (23/214, Vietnamese)
C=0.466 (55/118, SGDP_PRJ)
T=0.03 (2/64, Ancient Sardinia)
C=0.5 (4/8, Siberian)
T=0.5 (4/8, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SLC6A2 : Intron Variant
Publications: 17 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	90258	C=0.90020	T=0.09980
European	Sub	72250	C=0.90055	T=0.09945
African	Sub	5826	C=0.9616	T=0.0384
African Others	Sub	192	C=0.958	T=0.042
African American	Sub	5634	C=0.9617	T=0.0383
Asian	Sub	250	C=0.836	T=0.164
East Asian	Sub	176	C=0.818	T=0.182
Other Asian	Sub	74	C=0.88	T=0.12
Latin American 1	Sub	414	C=0.911	T=0.089
Latin American 2	Sub	3462	C=0.8674	T=0.1326
South Asian	Sub	4982	C=0.8477	T=0.1523
Other	Sub	3074	C=0.9014	T=0.0986

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
TopMed	Global	Study-wide	264690	C=0.914712	T=0.085288
gnomAD - Genomes	Global	Study-wide	140200	C=0.916027	T=0.083973
gnomAD - Genomes	European	Sub	75898	C=0.89929	T=0.10071
gnomAD - Genomes	African	Sub	42034	C=0.95882	T=0.04118
gnomAD - Genomes	American	Sub	13660	C=0.88594	T=0.11406
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=0.9191	T=0.0809
gnomAD - Genomes	East Asian	Sub	3130	C=0.8700	T=0.1300
gnomAD - Genomes	Other	Sub	2154	C=0.9239	T=0.0761
Allele Frequency Aggregator	Total	Global	90258	C=0.90020	T=0.09980
Allele Frequency Aggregator	European	Sub	72250	C=0.90055	T=0.09945
Allele Frequency Aggregator	African	Sub	5826	C=0.9616	T=0.0384
Allele Frequency Aggregator	South Asian	Sub	4982	C=0.8477	T=0.1523
Allele Frequency Aggregator	Latin American 2	Sub	3462	C=0.8674	T=0.1326
Allele Frequency Aggregator	Other	Sub	3074	C=0.9014	T=0.0986
Allele Frequency Aggregator	Latin American 1	Sub	414	C=0.911	T=0.089
Allele Frequency Aggregator	Asian	Sub	250	C=0.836	T=0.164
14KJPN	JAPANESE	Study-wide	28258	C=0.79316	T=0.20684
8.3KJPN	JAPANESE	Study-wide	16760	C=0.79314	T=0.20686
1000Genomes_30x	Global	Study-wide	6404	C=0.8965	T=0.1035
1000Genomes_30x	African	Sub	1786	C=0.9714	T=0.0286
1000Genomes_30x	Europe	Sub	1266	C=0.9092	T=0.0908
1000Genomes_30x	South Asian	Sub	1202	C=0.8161	T=0.1839
1000Genomes_30x	East Asian	Sub	1170	C=0.8581	T=0.1419
1000Genomes_30x	American	Sub	980	C=0.888	T=0.112
1000Genomes	Global	Study-wide	5008	C=0.8952	T=0.1048
1000Genomes	African	Sub	1322	C=0.9728	T=0.0272
1000Genomes	East Asian	Sub	1008	C=0.8571	T=0.1429
1000Genomes	Europe	Sub	1006	C=0.9105	T=0.0895
1000Genomes	South Asian	Sub	978	C=0.816	T=0.184
1000Genomes	American	Sub	694	C=0.892	T=0.108
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.8875	T=0.1125
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.8983	T=0.1017
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8919	T=0.1081
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.8031	T=0.1969
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.8829	T=0.1171
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.828	T=0.172
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.872	T=0.128
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.891	T=0.109
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.900	T=0.100
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.988	T=0.012
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.838	T=0.162
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.97	T=0.03
HapMap	Global	Study-wide	1914	C=0.9117	T=0.0883
HapMap	American	Sub	778	C=0.880	T=0.120
HapMap	African	Sub	702	C=0.973	T=0.027
HapMap	Asian	Sub	260	C=0.835	T=0.165
HapMap	Europe	Sub	174	C=0.920	T=0.080
Korean Genome Project	KOREAN	Study-wide	1832	C=0.8155	T=0.1845
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.926	T=0.074
CNV burdens in cranial meningiomas	Global	Study-wide	790	C=0.853	T=0.147
CNV burdens in cranial meningiomas	CRM	Sub	790	C=0.853	T=0.147
Chileans	Chilean	Study-wide	626	C=0.936	T=0.064
Northern Sweden	ACPOP	Study-wide	600	C=0.867	T=0.133
Qatari	Global	Study-wide	216	C=0.912	T=0.088
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.893	T=0.107
SGDP_PRJ	Global	Study-wide	118	C=0.466	T=0.534
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	64	C=0.97	T=0.03
Siberian	Global	Study-wide	8	C=0.5	T=0.5

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.55661194C>T
GRCh37.p13 chr 16	NC_000016.9:g.55695106C>T
SLC6A2 RefSeqGene	NG_016969.1:g.10565C>T

Gene: SLC6A2, solute carrier family 6 member 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SLC6A2 transcript variant 3	NM_001043.3:c.274+4226C>T	N/A	Intron Variant
SLC6A2 transcript variant 2	NM_001172501.3:c.274+4226… NM_001172501.3:c.274+4226C>T	N/A	Intron Variant
SLC6A2 transcript variant 1	NM_001172504.1:c.274+4226… NM_001172504.1:c.274+4226C>T	N/A	Intron Variant
SLC6A2 transcript variant 4	NM_001172502.1:c.	N/A	Genic Upstream Transcript Variant
SLC6A2 transcript variant X1	XM_006721263.2:c.274+4226… XM_006721263.2:c.274+4226C>T	N/A	Intron Variant
SLC6A2 transcript variant X2	XM_011523295.3:c.274+4226… XM_011523295.3:c.274+4226C>T	N/A	Intron Variant
SLC6A2 transcript variant X3	XM_047434510.1:c.274+4226… XM_047434510.1:c.274+4226C>T	N/A	Intron Variant
SLC6A2 transcript variant X4	XM_047434511.1:c.274+4226… XM_047434511.1:c.274+4226C>T	N/A	Intron Variant
SLC6A2 transcript variant X5	XM_047434512.1:c.274+4226… XM_047434512.1:c.274+4226C>T	N/A	Intron Variant
SLC6A2 transcript variant X6	XM_047434513.1:c.274+4226… XM_047434513.1:c.274+4226C>T	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

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

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
GRCh38.p14 chr 16	NC_000016.10:g.55661194=	NC_000016.10:g.55661194C>T
GRCh37.p13 chr 16	NC_000016.9:g.55695106=	NC_000016.9:g.55695106C>T
SLC6A2 RefSeqGene	NG_016969.1:g.10565=	NG_016969.1:g.10565C>T
SLC6A2 transcript variant 3	NM_001043.3:c.274+4226=	NM_001043.3:c.274+4226C>T
SLC6A2 transcript variant 2	NM_001172501.1:c.274+4226=	NM_001172501.1:c.274+4226C>T
SLC6A2 transcript variant 2	NM_001172501.3:c.274+4226=	NM_001172501.3:c.274+4226C>T
SLC6A2 transcript variant 1	NM_001172504.1:c.274+4226=	NM_001172504.1:c.274+4226C>T
SLC6A2 transcript variant X1	XM_006721263.2:c.274+4226=	XM_006721263.2:c.274+4226C>T
SLC6A2 transcript variant X2	XM_011523295.3:c.274+4226=	XM_011523295.3:c.274+4226C>T
SLC6A2 transcript variant X3	XM_047434510.1:c.274+4226=	XM_047434510.1:c.274+4226C>T
SLC6A2 transcript variant X4	XM_047434511.1:c.274+4226=	XM_047434511.1:c.274+4226C>T
SLC6A2 transcript variant X5	XM_047434512.1:c.274+4226=	XM_047434512.1:c.274+4226C>T
SLC6A2 transcript variant X6	XM_047434513.1:c.274+4226=	XM_047434513.1:c.274+4226C>T

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#.

98 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss4971499	Aug 28, 2002 (107)
2	ILLUMINA	ss65776919	Oct 13, 2006 (127)
3	AFFY	ss66249151	Nov 29, 2006 (127)
4	ILLUMINA	ss66616852	Nov 29, 2006 (127)
5	ILLUMINA	ss67302915	Nov 29, 2006 (127)
6	ILLUMINA	ss67707852	Nov 29, 2006 (127)
7	PERLEGEN	ss69345089	May 16, 2007 (127)
8	ILLUMINA	ss70781566	May 25, 2008 (130)
9	ILLUMINA	ss71358041	May 16, 2007 (127)
10	ILLUMINA	ss75474732	Dec 07, 2007 (129)
11	AFFY	ss76394538	Dec 08, 2007 (130)
12	ILLUMINA	ss79167143	Dec 15, 2007 (130)
13	KRIBB_YJKIM	ss84183253	Dec 15, 2007 (130)
14	ILLUMINA	ss122222319	Dec 01, 2009 (131)
15	ILLUMINA	ss154269044	Dec 01, 2009 (131)
16	ILLUMINA	ss159445820	Dec 01, 2009 (131)
17	ILLUMINA	ss171654498	Jul 04, 2010 (132)
18	AFFY	ss173464225	Jul 04, 2010 (132)
19	ILLUMINA	ss173638405	Jul 04, 2010 (132)
20	1000GENOMES	ss237035575	Jul 15, 2010 (132)
21	1000GENOMES	ss243372941	Jul 15, 2010 (132)
22	GMI	ss282542122	May 04, 2012 (137)
23	GMI	ss287079834	Apr 25, 2013 (138)
24	ILLUMINA	ss483519247	May 04, 2012 (137)
25	ILLUMINA	ss484061428	May 04, 2012 (137)
26	ILLUMINA	ss536252434	Sep 08, 2015 (146)
27	SSMP	ss660688895	Apr 25, 2013 (138)
28	ILLUMINA	ss780511730	Sep 08, 2015 (146)
29	ILLUMINA	ss782475453	Sep 08, 2015 (146)
30	ILLUMINA	ss825497661	Apr 01, 2015 (144)
31	ILLUMINA	ss832957382	Jul 13, 2019 (153)
32	ILLUMINA	ss836002925	Sep 08, 2015 (146)
33	EVA-GONL	ss992515781	Aug 21, 2014 (142)
34	JMKIDD_LAB	ss1080643028	Aug 21, 2014 (142)
35	1000GENOMES	ss1356350781	Aug 21, 2014 (142)
36	DDI	ss1427855353	Apr 01, 2015 (144)
37	EVA_UK10K_ALSPAC	ss1634478701	Apr 01, 2015 (144)
38	EVA_UK10K_TWINSUK	ss1677472734	Apr 01, 2015 (144)
39	EVA_DECODE	ss1696550366	Apr 01, 2015 (144)
40	EVA_SVP	ss1713541210	Apr 01, 2015 (144)
41	WEILL_CORNELL_DGM	ss1935952011	Feb 12, 2016 (147)
42	GENOMED	ss1968267701	Jul 19, 2016 (147)
43	JJLAB	ss2028759075	Sep 14, 2016 (149)
44	USC_VALOUEV	ss2157195394	Dec 20, 2016 (150)
45	HUMAN_LONGEVITY	ss2212376720	Dec 20, 2016 (150)
46	SYSTEMSBIOZJU	ss2628871149	Nov 08, 2017 (151)
47	ILLUMINA	ss2633321371	Nov 08, 2017 (151)
48	GRF	ss2701719280	Nov 08, 2017 (151)
49	GNOMAD	ss2943307952	Nov 08, 2017 (151)
50	AFFY	ss2985704906	Nov 08, 2017 (151)
51	SWEGEN	ss3014555146	Nov 08, 2017 (151)
52	ILLUMINA	ss3021708430	Nov 08, 2017 (151)
53	BIOINF_KMB_FNS_UNIBA	ss3028198190	Nov 08, 2017 (151)
54	CSHL	ss3351463942	Nov 08, 2017 (151)
55	ILLUMINA	ss3627529108	Oct 12, 2018 (152)
56	ILLUMINA	ss3631307586	Oct 12, 2018 (152)
57	ILLUMINA	ss3638126551	Oct 12, 2018 (152)
58	ILLUMINA	ss3639074692	Oct 12, 2018 (152)
59	ILLUMINA	ss3639543562	Oct 12, 2018 (152)
60	ILLUMINA	ss3641956625	Oct 12, 2018 (152)
61	ILLUMINA	ss3643107662	Oct 12, 2018 (152)
62	ILLUMINA	ss3652117370	Oct 12, 2018 (152)
63	EGCUT_WGS	ss3681532694	Jul 13, 2019 (153)
64	EVA_DECODE	ss3699314322	Jul 13, 2019 (153)
65	ILLUMINA	ss3725564055	Jul 13, 2019 (153)
66	ACPOP	ss3741533471	Jul 13, 2019 (153)
67	EVA	ss3753969536	Jul 13, 2019 (153)
68	PACBIO	ss3788046857	Jul 13, 2019 (153)
69	PACBIO	ss3793028447	Jul 13, 2019 (153)
70	PACBIO	ss3797913445	Jul 13, 2019 (153)
71	KHV_HUMAN_GENOMES	ss3819257171	Jul 13, 2019 (153)
72	EVA	ss3834583155	Apr 27, 2020 (154)
73	HGDP	ss3847546044	Apr 27, 2020 (154)
74	SGDP_PRJ	ss3884492176	Apr 27, 2020 (154)
75	KRGDB	ss3933982168	Apr 27, 2020 (154)
76	KOGIC	ss3977640113	Apr 27, 2020 (154)
77	EVA	ss3984713275	Apr 26, 2021 (155)
78	EVA	ss3985758412	Apr 26, 2021 (155)
79	EVA	ss4017737383	Apr 26, 2021 (155)
80	TOPMED	ss5016300821	Apr 26, 2021 (155)
81	TOMMO_GENOMICS	ss5219689806	Apr 26, 2021 (155)
82	EVA	ss5237564337	Apr 26, 2021 (155)
83	1000G_HIGH_COVERAGE	ss5301051416	Oct 16, 2022 (156)
84	EVA	ss5315839886	Oct 16, 2022 (156)
85	EVA	ss5423882353	Oct 16, 2022 (156)
86	HUGCELL_USP	ss5494394455	Oct 16, 2022 (156)
87	1000G_HIGH_COVERAGE	ss5603747230	Oct 16, 2022 (156)
88	SANFORD_IMAGENETICS	ss5624380750	Oct 16, 2022 (156)
89	SANFORD_IMAGENETICS	ss5658955982	Oct 16, 2022 (156)
90	TOMMO_GENOMICS	ss5774733174	Oct 16, 2022 (156)
91	YY_MCH	ss5815995614	Oct 16, 2022 (156)
92	EVA	ss5846445162	Oct 16, 2022 (156)
93	EVA	ss5847462948	Oct 16, 2022 (156)
94	EVA	ss5847771724	Oct 16, 2022 (156)
95	EVA	ss5851576616	Oct 16, 2022 (156)
96	EVA	ss5899205978	Oct 16, 2022 (156)
97	EVA	ss5950349259	Oct 16, 2022 (156)
98	EVA	ss5979486077	Oct 16, 2022 (156)
99	1000Genomes	NC_000016.9 - 55695106	Oct 12, 2018 (152)
100	1000Genomes_30x	NC_000016.10 - 55661194	Oct 16, 2022 (156)
101	The Avon Longitudinal Study of Parents and Children	NC_000016.9 - 55695106	Oct 12, 2018 (152)
102	Chileans	NC_000016.9 - 55695106	Apr 27, 2020 (154)
103	Genetic variation in the Estonian population	NC_000016.9 - 55695106	Oct 12, 2018 (152)
104	gnomAD - Genomes	NC_000016.10 - 55661194	Apr 26, 2021 (155)
105	Genome of the Netherlands Release 5	NC_000016.9 - 55695106	Apr 27, 2020 (154)
106	HGDP-CEPH-db Supplement 1	NC_000016.8 - 54252607	Apr 27, 2020 (154)
107	HapMap	NC_000016.10 - 55661194	Apr 27, 2020 (154)
108	KOREAN population from KRGDB	NC_000016.9 - 55695106	Apr 27, 2020 (154)
109	Korean Genome Project	NC_000016.10 - 55661194	Apr 27, 2020 (154)
110	Northern Sweden	NC_000016.9 - 55695106	Jul 13, 2019 (153)
111	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000016.9 - 55695106	Apr 26, 2021 (155)
112	CNV burdens in cranial meningiomas	NC_000016.9 - 55695106	Apr 26, 2021 (155)
113	Qatari	NC_000016.9 - 55695106	Apr 27, 2020 (154)
114	SGDP_PRJ	NC_000016.9 - 55695106	Apr 27, 2020 (154)
115	Siberian	NC_000016.9 - 55695106	Apr 27, 2020 (154)
116	8.3KJPN	NC_000016.9 - 55695106	Apr 26, 2021 (155)
117	14KJPN	NC_000016.10 - 55661194	Oct 16, 2022 (156)
118	TopMed	NC_000016.10 - 55661194	Apr 26, 2021 (155)
119	UK 10K study - Twins	NC_000016.9 - 55695106	Oct 12, 2018 (152)
120	A Vietnamese Genetic Variation Database	NC_000016.9 - 55695106	Jul 13, 2019 (153)
121	ALFA	NC_000016.10 - 55661194	Apr 26, 2021 (155)

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)
rs56530353	May 25, 2008 (130)
rs60390089	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
223936, ss282542122, ss287079834, ss483519247, ss825497661, ss1696550366, ss1713541210, ss3639074692, ss3639543562, ss3643107662, ss3847546044	NC_000016.8:54252606:C:T	NC_000016.10:55661193:C:T	(self)
69516572, 38560206, 168787, 27270942, 17195374, 41159562, 14818336, 984339, 262810, 17993933, 36509156, 9711748, 77659113, 38560206, 8554926, ss237035575, ss243372941, ss484061428, ss536252434, ss660688895, ss780511730, ss782475453, ss832957382, ss836002925, ss992515781, ss1080643028, ss1356350781, ss1427855353, ss1634478701, ss1677472734, ss1935952011, ss1968267701, ss2028759075, ss2157195394, ss2628871149, ss2633321371, ss2701719280, ss2943307952, ss2985704906, ss3014555146, ss3021708430, ss3351463942, ss3627529108, ss3631307586, ss3638126551, ss3641956625, ss3652117370, ss3681532694, ss3741533471, ss3753969536, ss3788046857, ss3793028447, ss3797913445, ss3834583155, ss3884492176, ss3933982168, ss3984713275, ss3985758412, ss4017737383, ss5219689806, ss5237564337, ss5315839886, ss5423882353, ss5624380750, ss5658955982, ss5846445162, ss5847462948, ss5847771724, ss5950349259, ss5979486077	NC_000016.9:55695105:C:T	NC_000016.10:55661193:C:T	(self)
91273165, 490330696, 1387718, 34018114, 108570278, 231846482, 3314932903, ss2212376720, ss3028198190, ss3699314322, ss3725564055, ss3819257171, ss3977640113, ss5016300821, ss5301051416, ss5494394455, ss5603747230, ss5774733174, ss5815995614, ss5851576616, ss5899205978	NC_000016.10:55661193:C:T	NC_000016.10:55661193:C:T	(self)
ss4971499, ss65776919, ss66249151, ss66616852, ss67302915, ss67707852, ss69345089, ss70781566, ss71358041, ss75474732, ss76394538, ss79167143, ss84183253, ss122222319, ss154269044, ss159445820, ss171654498, ss173464225, ss173638405	NT_010498.15:9309304:C:T	NC_000016.10:55661193:C:T	(self)

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

17 citations for rs3785143

PMID	Title	Author	Year	Journal
17876324	Further evidence of association between two NET single-nucleotide polymorphisms with ADHD.	Kim JW et al.	2008	Molecular psychiatry
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
18937296	Replication of a rare protective allele in the noradrenaline transporter gene and ADHD.	Xu X et al.	2008	American journal of medical genetics. Part B, Neuropsychiatric genetics
18937309	Sexually dimorphic effects of four genes (COMT, SLC6A2, MAOA, SLC6A4) in genetic associations of ADHD: a preliminary study.	Biederman J et al.	2008	American journal of medical genetics. Part B, Neuropsychiatric genetics
19698724	Novel and functional norepinephrine transporter protein variants identified in attention-deficit hyperactivity disorder.	Hahn MK et al.	2009	Neuropharmacology
20159345	Molecular genetics of attention deficit hyperactivity disorder.	Faraone SV et al.	2010	The Psychiatric clinics of North America
22297068	Differential association between the norepinephrine transporter gene and ADHD: role of sex and subtype.	Sengupta SM et al.	2012	Journal of psychiatry & neuroscience
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
23266789	Adrenergic neurotransmitter system transporter and receptor genes associated with atomoxetine response in attention-deficit hyperactivity disorder children.	Yang L et al.	2013	Journal of neural transmission (Vienna, Austria
24942521	The possible involvement of genetic variants of NET1 in the etiology of attention-deficit/hyperactivity disorder comorbid with oppositional defiant disorder.	Liu L et al.	2015	Journal of child psychology and psychiatry, and allied disciplines
27230021	Testing for the mediating role of endophenotypes using molecular genetic data in a twin study of ADHD traits.	Pinto R et al.	2016	American journal of medical genetics. Part B, Neuropsychiatric genetics
29374517	Association analysis of norepinephrine transporter polymorphisms and methylphenidate response in ADHD patients.	Angyal N et al.	2018	Progress in neuro-psychopharmacology & biological psychiatry
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
31910717	Monoaminergic Genetic Variants, Prefrontal Cortex-Amygdala Circuit, and Emotional Symptoms in Children With ADHD: Exploration Based on the Gene-Brain-Behavior Relationship.	Liu L et al.	2021	Journal of attention disorders
33458869	Influence of dopamine, noradrenaline, and serotonin transporters on the pharmacogenetics of Atremorine in Parkinson's disease.	Cacabelos R et al.	2021	Drug development research
33944622	Role of the norepinephrine transporter polymorphisms in atomoxetine treatment: From response to side effects in children with ADHD.	Gul MK et al.	2022	Journal of psychopharmacology (Oxford, England)
34797323	Noradrenergic genes polymorphisms and response to methylphenidate in children with ADHD: A systematic review and meta-analysis.	Yuan D et al.	2021	Medicine

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs3785143