Name: rs6350
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.

rs6350

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:1443084 (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: G>A / G>C
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.055865 (14787/264690, TOPMED)
A=0.059511 (14919/250692, ALFA)
A=0.00722 (204/28258, 14KJPN) (+ 23 more)
A=0.00740 (124/16760, 8.3KJPN)
A=0.06136 (798/13006, GO-ESP)
A=0.0472 (302/6404, 1000G_30x)
A=0.0455 (228/5008, 1000G)
A=0.0453 (203/4480, Estonian)
A=0.0708 (273/3854, ALSPAC)
A=0.0709 (263/3708, TWINSUK)
A=0.0096 (28/2922, KOREAN)
A=0.0528 (110/2084, HGDP_Stanford)
A=0.0530 (100/1886, HapMap)
A=0.067 (67/998, GoNL)
A=0.013 (10/792, PRJEB37584)
A=0.023 (14/616, Vietnamese)
A=0.068 (41/600, NorthernSweden)
A=0.073 (39/534, MGP)
A=0.044 (21/480, PharmGKB)
A=0.076 (23/304, FINRISK)
A=0.116 (25/216, Qatari)
A=0.11 (8/70, Ancient Sardinia)
G=0.46 (31/68, SGDP_PRJ)
A=0.03 (1/40, GENOME_DK)
G=0.5 (4/8, Siberian)
A=0.5 (4/8, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: SLC6A3 : Missense Variant
Publications: 14 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	267050	G=0.940461	A=0.059539, C=0.000000
European	Sub	223534	G=0.937911	A=0.062089, C=0.000000
African	Sub	14890	G=0.96091	A=0.03909, C=0.00000
African Others	Sub	534	G=0.961	A=0.039, C=0.000
African American	Sub	14356	G=0.96092	A=0.03908, C=0.00000
Asian	Sub	794	G=0.985	A=0.015, C=0.000
East Asian	Sub	626	G=0.992	A=0.008, C=0.000
Other Asian	Sub	168	G=0.958	A=0.042, C=0.000
Latin American 1	Sub	1178	G=0.9397	A=0.0603, C=0.0000
Latin American 2	Sub	6878	G=0.9667	A=0.0333, C=0.0000
South Asian	Sub	5030	G=0.9406	A=0.0594, C=0.0000
Other	Sub	14746	G=0.94385	A=0.05615, C=0.00000

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	G=0.944135	A=0.055865
Allele Frequency Aggregator	Total	Global	250692	G=0.940489	A=0.059511, C=0.000000
Allele Frequency Aggregator	European	Sub	213448	G=0.938041	A=0.061959, C=0.000000
Allele Frequency Aggregator	Other	Sub	13312	G=0.94411	A=0.05589, C=0.00000
Allele Frequency Aggregator	African	Sub	10052	G=0.96628	A=0.03372, C=0.00000
Allele Frequency Aggregator	Latin American 2	Sub	6878	G=0.9667	A=0.0333, C=0.0000
Allele Frequency Aggregator	South Asian	Sub	5030	G=0.9406	A=0.0594, C=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	1178	G=0.9397	A=0.0603, C=0.0000
Allele Frequency Aggregator	Asian	Sub	794	G=0.985	A=0.015, C=0.000
14KJPN	JAPANESE	Study-wide	28258	G=0.99278	A=0.00722
8.3KJPN	JAPANESE	Study-wide	16760	G=0.99260	A=0.00740
GO Exome Sequencing Project	Global	Study-wide	13006	G=0.93864	A=0.06136
GO Exome Sequencing Project	European American	Sub	8600	G=0.9338	A=0.0662
GO Exome Sequencing Project	African American	Sub	4406	G=0.9480	A=0.0520
1000Genomes_30x	Global	Study-wide	6404	G=0.9527	A=0.0472, C=0.0002
1000Genomes_30x	African	Sub	1786	G=0.9591	A=0.0409, C=0.0000
1000Genomes_30x	Europe	Sub	1266	G=0.9179	A=0.0821, C=0.0000
1000Genomes_30x	South Asian	Sub	1202	G=0.9517	A=0.0483, C=0.0000
1000Genomes_30x	East Asian	Sub	1170	G=0.9872	A=0.0128, C=0.0000
1000Genomes_30x	American	Sub	980	G=0.946	A=0.053, C=0.001
1000Genomes	Global	Study-wide	5008	G=0.9545	A=0.0455
1000Genomes	African	Sub	1322	G=0.9599	A=0.0401
1000Genomes	East Asian	Sub	1008	G=0.9891	A=0.0109
1000Genomes	Europe	Sub	1006	G=0.9185	A=0.0815
1000Genomes	South Asian	Sub	978	G=0.952	A=0.048
1000Genomes	American	Sub	694	G=0.950	A=0.050
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.9547	A=0.0453
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.9292	A=0.0708
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.9291	A=0.0709
KOREAN population from KRGDB	KOREAN	Study-wide	2922	G=0.9904	A=0.0096
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	G=0.9472	A=0.0528
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	G=0.991	A=0.009
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	G=0.944	A=0.056
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	G=0.903	A=0.097
HGDP-CEPH-db Supplement 1	Europe	Sub	320	G=0.916	A=0.084
HGDP-CEPH-db Supplement 1	Africa	Sub	242	G=0.926	A=0.074
HGDP-CEPH-db Supplement 1	America	Sub	216	G=0.981	A=0.019
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	G=1.00	A=0.00
HapMap	Global	Study-wide	1886	G=0.9470	A=0.0530
HapMap	American	Sub	766	G=0.957	A=0.043
HapMap	African	Sub	690	G=0.933	A=0.067
HapMap	Asian	Sub	254	G=0.992	A=0.008
HapMap	Europe	Sub	176	G=0.892	A=0.108
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.933	A=0.067
CNV burdens in cranial meningiomas	Global	Study-wide	792	G=0.987	A=0.013
CNV burdens in cranial meningiomas	CRM	Sub	792	G=0.987	A=0.013
A Vietnamese Genetic Variation Database	Global	Study-wide	616	G=0.977	A=0.023
Northern Sweden	ACPOP	Study-wide	600	G=0.932	A=0.068
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.927	A=0.073
PharmGKB Aggregated	Global	Study-wide	480	G=0.956	A=0.044
PharmGKB Aggregated	PA127979465	Sub	480	G=0.956	A=0.044
FINRISK	Finnish from FINRISK project	Study-wide	304	G=0.924	A=0.076
Qatari	Global	Study-wide	216	G=0.884	A=0.116
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	70	G=0.89	A=0.11
SGDP_PRJ	Global	Study-wide	68	G=0.46	A=0.54
The Danish reference pan genome	Danish	Study-wide	40	G=0.97	A=0.03
Siberian	Global	Study-wide	8	G=0.5	A=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 5	NC_000005.10:g.1443084G>A
GRCh38.p14 chr 5	NC_000005.10:g.1443084G>C
GRCh37.p13 chr 5	NC_000005.9:g.1443199G>A
GRCh37.p13 chr 5	NC_000005.9:g.1443199G>C
SLC6A3 RefSeqGene	NG_015885.1:g.7345C>T
SLC6A3 RefSeqGene	NG_015885.1:g.7345C>G
GRCh38.p14 chr 5 alt locus HSCHR5_3_CTG1	NT_187547.1:g.66689C>T
GRCh38.p14 chr 5 alt locus HSCHR5_3_CTG1	NT_187547.1:g.66689C>G

Gene: SLC6A3, solute carrier family 6 member 3 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SLC6A3 transcript	NM_001044.5:c.114C>T	N [AAC] > N [AAT]	Coding Sequence Variant
sodium-dependent dopamine transporter	NP_001035.1:p.Asn38=	N (Asn) > N (Asn)	Synonymous Variant
SLC6A3 transcript	NM_001044.5:c.114C>G	N [AAC] > K [AAG]	Coding Sequence Variant
sodium-dependent dopamine transporter	NP_001035.1:p.Asn38Lys	N (Asn) > K (Lys)	Missense 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.

Allele: A (allele ID: 512902 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000625457.4	Parkinsonism-dystonia, infantile, 1	Benign
RCV001521511.4	Parkinsonism-dystonia, infantile	Benign
RCV001613413.3	not provided	Benign

Allele: C (allele ID: 454774 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000546376.6	Parkinsonism-dystonia, infantile	Uncertain-Significance

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	G=	A	C
GRCh38.p14 chr 5	NC_000005.10:g.1443084=	NC_000005.10:g.1443084G>A	NC_000005.10:g.1443084G>C
GRCh37.p13 chr 5	NC_000005.9:g.1443199=	NC_000005.9:g.1443199G>A	NC_000005.9:g.1443199G>C
SLC6A3 RefSeqGene	NG_015885.1:g.7345=	NG_015885.1:g.7345C>T	NG_015885.1:g.7345C>G
SLC6A3 transcript	NM_001044.5:c.114=	NM_001044.5:c.114C>T	NM_001044.5:c.114C>G
SLC6A3 transcript	NM_001044.4:c.114=	NM_001044.4:c.114C>T	NM_001044.4:c.114C>G
GRCh38.p14 chr 5 alt locus HSCHR5_3_CTG1	NT_187547.1:g.66689=	NT_187547.1:g.66689C>T	NT_187547.1:g.66689C>G
sodium-dependent dopamine transporter	NP_001035.1:p.Asn38=	NP_001035.1:p.Asn38=	NP_001035.1:p.Asn38Lys

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#.

136 SubSNP, 31 Frequency, 4 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	WIAF-CSNP	ss7978	Sep 19, 2000 (52)
2	YUSUKE	ss3205508	Sep 28, 2001 (100)
3	SNP500CANCER	ss5586922	Mar 31, 2003 (113)
4	EGP_SNPS	ss35033672	May 24, 2005 (125)
5	APPLERA_GI	ss48417661	Mar 13, 2006 (126)
6	SI_EXO	ss52062768	Oct 13, 2006 (127)
7	ILLUMINA	ss66590585	Nov 29, 2006 (127)
8	ILLUMINA	ss67449927	Nov 29, 2006 (127)
9	ILLUMINA	ss67801475	Nov 29, 2006 (127)
10	FERRELL_U_PITTSBURGH	ss69355476	May 16, 2007 (127)
11	PHARMGKB_PMT	ss69369718	May 16, 2007 (127)
12	TAPPERS	ss70352057	May 16, 2007 (127)
13	ILLUMINA	ss70862069	May 25, 2008 (130)
14	ILLUMINA	ss71449502	May 16, 2007 (127)
15	ILLUMINA	ss75616398	Dec 06, 2007 (129)
16	ILLUMINA	ss79218932	Dec 15, 2007 (130)
17	KRIBB_YJKIM	ss83347188	Dec 15, 2007 (130)
18	1000GENOMES	ss108734131	Jan 23, 2009 (130)
19	ILLUMINA	ss122529067	Dec 01, 2009 (131)
20	ILLUMINA	ss154357115	Dec 01, 2009 (131)
21	ILLUMINA	ss159533375	Dec 01, 2009 (131)
22	SEATTLESEQ	ss159709021	Dec 01, 2009 (131)
23	ILLUMINA	ss160770511	Dec 01, 2009 (131)
24	ILLUMINA	ss172113868	Jul 04, 2010 (132)
25	ILLUMINA	ss173993855	Jul 04, 2010 (132)
26	1000GENOMES	ss217319595	Jul 14, 2010 (132)
27	1000GENOMES	ss217395022	Jul 14, 2010 (132)
28	1000GENOMES	ss217396578	Jul 14, 2010 (132)
29	1000GENOMES	ss217404688	Jul 14, 2010 (132)
30	1000GENOMES	ss217414298	Jul 14, 2010 (132)
31	1000GENOMES	ss217415513	Jul 14, 2010 (132)
32	1000GENOMES	ss217418593	Jul 14, 2010 (132)
33	1000GENOMES	ss221467512	Jul 14, 2010 (132)
34	1000GENOMES	ss232792753	Jul 14, 2010 (132)
35	NHLBI-ESP	ss342177254	May 09, 2011 (134)
36	ILLUMINA	ss481231494	May 04, 2012 (137)
37	ILLUMINA	ss481255059	May 04, 2012 (137)
38	ILLUMINA	ss482241399	Sep 08, 2015 (146)
39	ILLUMINA	ss485411097	May 04, 2012 (137)
40	1000GENOMES	ss490899711	May 04, 2012 (137)
41	CLINSEQ_SNP	ss491864044	May 04, 2012 (137)
42	ILLUMINA	ss537345138	Sep 08, 2015 (146)
43	TISHKOFF	ss558147318	Apr 25, 2013 (138)
44	SSMP	ss651991341	Apr 25, 2013 (138)
45	ILLUMINA	ss778938681	Sep 08, 2015 (146)
46	ILLUMINA	ss783150997	Sep 08, 2015 (146)
47	ILLUMINA	ss784106958	Sep 08, 2015 (146)
48	ILLUMINA	ss825549450	Apr 01, 2015 (144)
49	ILLUMINA	ss832410194	Sep 08, 2015 (146)
50	ILLUMINA	ss833044611	Jul 13, 2019 (153)
51	ILLUMINA	ss834400363	Sep 08, 2015 (146)
52	JMKIDD_LAB	ss974454977	Aug 21, 2014 (142)
53	EVA-GONL	ss981165387	Aug 21, 2014 (142)
54	JMKIDD_LAB	ss1067466517	Aug 21, 2014 (142)
55	JMKIDD_LAB	ss1072326139	Aug 21, 2014 (142)
56	1000GENOMES	ss1313605728	Aug 21, 2014 (142)
57	DDI	ss1430216915	Apr 01, 2015 (144)
58	EVA_GENOME_DK	ss1580976415	Apr 01, 2015 (144)
59	EVA_FINRISK	ss1584037680	Apr 01, 2015 (144)
60	EVA_DECODE	ss1590681278	Apr 01, 2015 (144)
61	EVA_UK10K_ALSPAC	ss1612111660	Apr 01, 2015 (144)
62	EVA_UK10K_TWINSUK	ss1655105693	Apr 01, 2015 (144)
63	EVA_EXAC	ss1687738032	Apr 01, 2015 (144)
64	EVA_EXAC	ss1687738033	Apr 01, 2015 (144)
65	EVA_MGP	ss1711080261	Apr 01, 2015 (144)
66	EVA_SVP	ss1712736976	Apr 01, 2015 (144)
67	ILLUMINA	ss1752553908	Sep 08, 2015 (146)
68	HAMMER_LAB	ss1802924016	Sep 08, 2015 (146)
69	WEILL_CORNELL_DGM	ss1924421689	Feb 12, 2016 (147)
70	JJLAB	ss2022804078	Sep 14, 2016 (149)
71	USC_VALOUEV	ss2150954194	Dec 20, 2016 (150)
72	HUMAN_LONGEVITY	ss2270770022	Dec 20, 2016 (150)
73	SYSTEMSBIOZJU	ss2625900477	Nov 08, 2017 (151)
74	ILLUMINA	ss2634234184	Nov 08, 2017 (151)
75	ILLUMINA	ss2635140412	Nov 08, 2017 (151)
76	ILLUMINA	ss2711026693	Nov 08, 2017 (151)
77	GNOMAD	ss2734889935	Nov 08, 2017 (151)
78	GNOMAD	ss2747352106	Nov 08, 2017 (151)
79	AFFY	ss2985941996	Nov 08, 2017 (151)
80	SWEGEN	ss2996316221	Nov 08, 2017 (151)
81	BIOINF_KMB_FNS_UNIBA	ss3025184826	Nov 08, 2017 (151)
82	CSHL	ss3346200889	Nov 08, 2017 (151)
83	ILLUMINA	ss3625864464	Oct 12, 2018 (152)
84	ILLUMINA	ss3629159600	Oct 12, 2018 (152)
85	ILLUMINA	ss3632163580	Oct 12, 2018 (152)
86	ILLUMINA	ss3633362302	Oct 12, 2018 (152)
87	ILLUMINA	ss3634082354	Oct 12, 2018 (152)
88	ILLUMINA	ss3634987473	Oct 12, 2018 (152)
89	ILLUMINA	ss3635764656	Oct 12, 2018 (152)
90	ILLUMINA	ss3636696127	Oct 12, 2018 (152)
91	ILLUMINA	ss3637517252	Oct 12, 2018 (152)
92	ILLUMINA	ss3638533860	Oct 12, 2018 (152)
93	ILLUMINA	ss3639269350	Oct 12, 2018 (152)
94	ILLUMINA	ss3639657372	Oct 12, 2018 (152)
95	ILLUMINA	ss3640694766	Oct 12, 2018 (152)
96	ILLUMINA	ss3643481398	Oct 12, 2018 (152)
97	EGCUT_WGS	ss3664204994	Jul 13, 2019 (153)
98	EVA_DECODE	ss3713954984	Jul 13, 2019 (153)
99	ACPOP	ss3732017823	Jul 13, 2019 (153)
100	ILLUMINA	ss3745287647	Jul 13, 2019 (153)
101	EVA	ss3762967707	Jul 13, 2019 (153)
102	ILLUMINA	ss3772782027	Jul 13, 2019 (153)
103	KHV_HUMAN_GENOMES	ss3806136550	Jul 13, 2019 (153)
104	EVA	ss3824067577	Apr 26, 2020 (154)
105	EVA	ss3825669295	Apr 26, 2020 (154)
106	EVA	ss3829052572	Apr 26, 2020 (154)
107	EVA	ss3837985783	Apr 26, 2020 (154)
108	EVA	ss3843428231	Apr 26, 2020 (154)
109	HGDP	ss3847778393	Apr 26, 2020 (154)
110	SGDP_PRJ	ss3861045140	Apr 26, 2020 (154)
111	KRGDB	ss3907482537	Apr 26, 2020 (154)
112	FSA-LAB	ss3984301005	Apr 26, 2021 (155)
113	FSA-LAB	ss3984301006	Apr 26, 2021 (155)
114	EVA	ss3984541567	Apr 26, 2021 (155)
115	EVA	ss3985119569	Apr 26, 2021 (155)
116	EVA	ss3986300885	Apr 26, 2021 (155)
117	VINODS	ss4024242781	Apr 26, 2021 (155)
118	TOPMED	ss4647169263	Apr 26, 2021 (155)
119	TOMMO_GENOMICS	ss5170051079	Apr 26, 2021 (155)
120	EVA	ss5237011174	Apr 26, 2021 (155)
121	EVA	ss5237184730	Apr 26, 2021 (155)
122	EVA	ss5237643163	Oct 13, 2022 (156)
123	1000G_HIGH_COVERAGE	ss5262612939	Oct 13, 2022 (156)
124	TRAN_CS_UWATERLOO	ss5314412029	Oct 13, 2022 (156)
125	EVA	ss5315024885	Oct 13, 2022 (156)
126	EVA	ss5355166865	Oct 13, 2022 (156)
127	HUGCELL_USP	ss5460985172	Oct 13, 2022 (156)
128	1000G_HIGH_COVERAGE	ss5545532339	Oct 13, 2022 (156)
129	SANFORD_IMAGENETICS	ss5637028065	Oct 13, 2022 (156)
130	TOMMO_GENOMICS	ss5705633253	Oct 13, 2022 (156)
131	EVA	ss5799638506	Oct 13, 2022 (156)
132	YY_MCH	ss5805952387	Oct 13, 2022 (156)
133	EVA	ss5834410958	Oct 13, 2022 (156)
134	EVA	ss5848622562	Oct 13, 2022 (156)
135	EVA	ss5892687267	Oct 13, 2022 (156)
136	EVA	ss5965435504	Oct 13, 2022 (156)
137	1000Genomes	NC_000005.9 - 1443199	Oct 12, 2018 (152)
138	1000Genomes_30x	NC_000005.10 - 1443084	Oct 13, 2022 (156)
139	The Avon Longitudinal Study of Parents and Children	NC_000005.9 - 1443199	Oct 12, 2018 (152)
140	Genetic variation in the Estonian population	NC_000005.9 - 1443199	Oct 12, 2018 (152)
141	ExAC Submission ignored due to conflicting rows: Row 7723181 (NC_000005.9:1443198:G:G 114620/121366, NC_000005.9:1443198:G:A 6746/121366) Row 7723182 (NC_000005.9:1443198:G:G 121360/121366, NC_000005.9:1443198:G:C 6/121366)	-	Oct 12, 2018 (152)
142	ExAC Submission ignored due to conflicting rows: Row 7723181 (NC_000005.9:1443198:G:G 114620/121366, NC_000005.9:1443198:G:A 6746/121366) Row 7723182 (NC_000005.9:1443198:G:G 121360/121366, NC_000005.9:1443198:G:C 6/121366)	-	Oct 12, 2018 (152)
143	FINRISK	NC_000005.9 - 1443199	Apr 26, 2020 (154)
144	The Danish reference pan genome	NC_000005.9 - 1443199	Apr 26, 2020 (154)
145	gnomAD - Genomes Submission ignored due to conflicting rows: Row 177867447 (NC_000005.10:1443083:G:A 8329/140200) Row 177867448 (NC_000005.10:1443083:G:C 2/140220)	-	Apr 26, 2021 (155)
146	gnomAD - Genomes Submission ignored due to conflicting rows: Row 177867447 (NC_000005.10:1443083:G:A 8329/140200) Row 177867448 (NC_000005.10:1443083:G:C 2/140220)	-	Apr 26, 2021 (155)
147	gnomAD - Exomes Submission ignored due to conflicting rows: Row 4004414 (NC_000005.9:1443198:G:G 237454/251432, NC_000005.9:1443198:G:A 13978/251432) Row 4004415 (NC_000005.9:1443198:G:G 251415/251432, NC_000005.9:1443198:G:C 17/251432)	-	Jul 13, 2019 (153)
148	gnomAD - Exomes Submission ignored due to conflicting rows: Row 4004414 (NC_000005.9:1443198:G:G 237454/251432, NC_000005.9:1443198:G:A 13978/251432) Row 4004415 (NC_000005.9:1443198:G:G 251415/251432, NC_000005.9:1443198:G:C 17/251432)	-	Jul 13, 2019 (153)
149	GO Exome Sequencing Project	NC_000005.9 - 1443199	Oct 12, 2018 (152)
150	Genome of the Netherlands Release 5	NC_000005.9 - 1443199	Apr 26, 2020 (154)
151	HGDP-CEPH-db Supplement 1	NC_000005.8 - 1496199	Apr 26, 2020 (154)
152	HapMap	NC_000005.10 - 1443084	Apr 26, 2020 (154)
153	KOREAN population from KRGDB	NC_000005.9 - 1443199	Apr 26, 2020 (154)
154	Medical Genome Project healthy controls from Spanish population	NC_000005.9 - 1443199	Apr 26, 2020 (154)
155	Northern Sweden	NC_000005.9 - 1443199	Jul 13, 2019 (153)
156	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000005.9 - 1443199	Apr 26, 2021 (155)
157	CNV burdens in cranial meningiomas	NC_000005.9 - 1443199	Apr 26, 2021 (155)
158	PharmGKB Aggregated	NC_000005.10 - 1443084	Apr 26, 2020 (154)
159	Qatari	NC_000005.9 - 1443199	Apr 26, 2020 (154)
160	SGDP_PRJ	NC_000005.9 - 1443199	Apr 26, 2020 (154)
161	Siberian	NC_000005.9 - 1443199	Apr 26, 2020 (154)
162	8.3KJPN	NC_000005.9 - 1443199	Apr 26, 2021 (155)
163	14KJPN	NC_000005.10 - 1443084	Oct 13, 2022 (156)
164	TopMed	NC_000005.10 - 1443084	Apr 26, 2021 (155)
165	UK 10K study - Twins	NC_000005.9 - 1443199	Oct 12, 2018 (152)
166	A Vietnamese Genetic Variation Database	NC_000005.9 - 1443199	Jul 13, 2019 (153)
167	ALFA	NC_000005.10 - 1443084	Apr 26, 2021 (155)
168	ClinVar	RCV000546376.6	Oct 13, 2022 (156)
169	ClinVar	RCV000625457.4	Oct 13, 2022 (156)
170	ClinVar	RCV001521511.4	Oct 13, 2022 (156)
171	ClinVar	RCV001613413.3	Oct 13, 2022 (156)

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)
rs59645135	May 25, 2008 (130)
rs386602389	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
456285, ss108734131, ss217319595, ss217395022, ss217396578, ss217404688, ss217414298, ss217415513, ss217418593, ss481231494, ss491864044, ss825549450, ss1590681278, ss1712736976, ss2635140412, ss3639269350, ss3639657372, ss3643481398, ss3847778393	NC_000005.8:1496198:G:A	NC_000005.10:1443083:G:A	(self)
25150211, 13987372, 9943242, 34141, 7141354, 525735, 6208825, 14659931, 196021, 5302688, 345496, 90931, 6463619, 13062120, 3470548, 28020386, 13987372, 3101018, ss221467512, ss232792753, ss342177254, ss481255059, ss482241399, ss485411097, ss490899711, ss537345138, ss558147318, ss651991341, ss778938681, ss783150997, ss784106958, ss832410194, ss833044611, ss834400363, ss974454977, ss981165387, ss1067466517, ss1072326139, ss1313605728, ss1430216915, ss1580976415, ss1584037680, ss1612111660, ss1655105693, ss1687738032, ss1711080261, ss1752553908, ss1802924016, ss1924421689, ss2022804078, ss2150954194, ss2625900477, ss2634234184, ss2711026693, ss2734889935, ss2747352106, ss2985941996, ss2996316221, ss3346200889, ss3625864464, ss3629159600, ss3632163580, ss3633362302, ss3634082354, ss3634987473, ss3635764656, ss3636696127, ss3637517252, ss3638533860, ss3640694766, ss3664204994, ss3732017823, ss3745287647, ss3762967707, ss3772782027, ss3824067577, ss3825669295, ss3829052572, ss3837985783, ss3861045140, ss3907482537, ss3984301005, ss3984301006, ss3984541567, ss3985119569, ss3986300885, ss5170051079, ss5315024885, ss5355166865, ss5637028065, ss5799638506, ss5834410958, ss5848622562, ss5965435504	NC_000005.9:1443198:G:A	NC_000005.10:1443083:G:A	(self)
RCV000625457.4, RCV001521511.4, RCV001613413.3, 33058274, 2790174, 9876, 39470357, 484546820, 9664104118, ss2270770022, ss3025184826, ss3713954984, ss3806136550, ss3843428231, ss4647169263, ss5237011174, ss5237184730, ss5237643163, ss5262612939, ss5314412029, ss5460985172, ss5545532339, ss5705633253, ss5805952387, ss5892687267	NC_000005.10:1443083:G:A	NC_000005.10:1443083:G:A	(self)
ss52062768	NT_006576.15:1433198:G:A	NC_000005.10:1443083:G:A	(self)
ss7978, ss3205508, ss5586922, ss35033672, ss48417661, ss66590585, ss67449927, ss67801475, ss69355476, ss69369718, ss70352057, ss70862069, ss71449502, ss75616398, ss79218932, ss83347188, ss122529067, ss154357115, ss159533375, ss159709021, ss160770511, ss172113868, ss173993855	NT_006576.16:1433198:G:A	NC_000005.10:1443083:G:A	(self)
ss4024242781	NT_187547.1:66688:C:T	NC_000005.10:1443083:G:A	(self)
ss1687738033, ss2734889935, ss5637028065	NC_000005.9:1443198:G:C	NC_000005.10:1443083:G:C	(self)
RCV000546376.6, 33058274, 9664104118, ss5545532339	NC_000005.10:1443083:G:C	NC_000005.10:1443083:G:C	(self)

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

14 citations for rs6350

PMID	Title	Author	Year	Journal
16848906	Genetic polymorphisms in monoamine neurotransmitter systems show only weak association with acute post-surgical pain in humans.	Kim H et al.	2006	Molecular pain
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
19183461	SLC6A3 and body mass index in the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial.	Azzato EM et al.	2009	BMC medical genetics
19352220	Association between harmful alcohol consumption behavior and dopamine transporter (DAT1) gene polymorphisms in a male Finnish population.	Lind PA et al.	2009	Psychiatric genetics
19418498	Familiality and molecular genetics of attention networks in ADHD.	Konrad K et al.	2010	American journal of medical genetics. Part B, Neuropsychiatric genetics
19494806	Dopamine genes and nicotine dependence in treatment-seeking and community smokers.	Bergen AW et al.	2009	Neuropsychopharmacology
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
21083670	Limited associations of dopamine system genes with alcohol dependence and related traits in the Irish Affected Sib Pair Study of Alcohol Dependence (IASPSAD).	Hack LM et al.	2011	Alcoholism, clinical and experimental research
21143246	Neurotransmitter and neuromodulator genes associated with a history of depressive symptoms in individuals with alcohol dependence.	Kertes DA et al.	2011	Alcoholism, clinical and experimental research
24755993	Therapygenetics in mindfulness-based cognitive therapy: do genes have an impact on therapy-induced change in real-life positive affective experiences?	Bakker JM et al.	2014	Translational psychiatry
25547317	Dopamine transporter gene may be associated with bipolar disorder and its personality traits.	Huang CC et al.	2015	European archives of psychiatry and clinical neuroscience
27653456	Systematic analysis of genetic variants in Han Chinese patients with sporadic Parkinson's disease.	Yuan L et al.	2016	Scientific reports
28182634	The SLC6A3 gene possibly affects susceptibility to late-onset alcohol dependence but not specific personality traits in a Han Chinese population.	Huang CC et al.	2017	PloS one
31129315	Systematic Review and Meta-Analysis of Genetic Risk of Developing Chronic Postsurgical Pain.	Chidambaran V et al.	2020	The journal of pain

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
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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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs6350