Name: rs2270637
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.

rs2270637

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr8:20179316 (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>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.194110 (51379/264690, TOPMED)
G=0.195402 (49121/251384, GnomAD_exome)
G=0.206018 (28866/140114, GnomAD) (+ 25 more)
G=0.197326 (23940/121322, ExAC)
G=0.190225 (22509/118328, ALFA)
G=0.19727 (15525/78698, PAGE_STUDY)
G=0.26297 (7431/28258, 14KJPN)
G=0.26319 (4411/16760, 8.3KJPN)
G=0.20129 (2618/13006, GO-ESP)
G=0.1944 (1245/6404, 1000G_30x)
G=0.1903 (953/5008, 1000G)
G=0.2286 (1024/4480, Estonian)
G=0.1809 (697/3854, ALSPAC)
G=0.1880 (697/3708, TWINSUK)
G=0.2061 (604/2930, KOREAN)
G=0.2131 (402/1886, HapMap)
G=0.2074 (380/1832, Korea1K)
G=0.206 (206/998, GoNL)
G=0.140 (110/788, PRJEB37584)
G=0.103 (63/614, Vietnamese)
G=0.197 (118/600, NorthernSweden)
G=0.170 (91/534, MGP)
G=0.202 (98/486, PharmGKB)
G=0.247 (75/304, FINRISK)
C=0.445 (97/218, SGDP_PRJ)
G=0.208 (45/216, Qatari)
G=0.12 (5/40, GENOME_DK)
C=0.38 (12/32, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SLC18A1 : Missense Variant
Publications: 4 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	118328	C=0.809775	G=0.190225
European	Sub	100424	C=0.809498	G=0.190502
African	Sub	4404	C=0.7809	G=0.2191
African Others	Sub	174	C=0.736	G=0.264
African American	Sub	4230	C=0.7827	G=0.2173
Asian	Sub	3332	C=0.8367	G=0.1633
East Asian	Sub	2676	C=0.8132	G=0.1868
Other Asian	Sub	656	C=0.933	G=0.067
Latin American 1	Sub	794	C=0.819	G=0.181
Latin American 2	Sub	962	C=0.840	G=0.160
South Asian	Sub	274	C=0.810	G=0.190
Other	Sub	8138	C=0.8133	G=0.1867

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	C=0.805890	G=0.194110
gnomAD - Exomes	Global	Study-wide	251384	C=0.804598	G=0.195402
gnomAD - Exomes	European	Sub	135326	C=0.795671	G=0.204329
gnomAD - Exomes	Asian	Sub	49002	C=0.81227	G=0.18773
gnomAD - Exomes	American	Sub	34584	C=0.83362	G=0.16638
gnomAD - Exomes	African	Sub	16252	C=0.77086	G=0.22914
gnomAD - Exomes	Ashkenazi Jewish	Sub	10080	C=0.83819	G=0.16181
gnomAD - Exomes	Other	Sub	6140	C=0.8107	G=0.1893
gnomAD - Genomes	Global	Study-wide	140114	C=0.793982	G=0.206018
gnomAD - Genomes	European	Sub	75880	C=0.79594	G=0.20406
gnomAD - Genomes	African	Sub	41976	C=0.76830	G=0.23170
gnomAD - Genomes	American	Sub	13658	C=0.83394	G=0.16606
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.8450	G=0.1550
gnomAD - Genomes	East Asian	Sub	3124	C=0.8649	G=0.1351
gnomAD - Genomes	Other	Sub	2154	C=0.7906	G=0.2094
ExAC	Global	Study-wide	121322	C=0.802674	G=0.197326
ExAC	Europe	Sub	73310	C=0.80044	G=0.19956
ExAC	Asian	Sub	25140	C=0.80374	G=0.19626
ExAC	American	Sub	11566	C=0.83780	G=0.16220
ExAC	African	Sub	10398	C=0.77659	G=0.22341
ExAC	Other	Sub	908	C=0.805	G=0.195
Allele Frequency Aggregator	Total	Global	118328	C=0.809775	G=0.190225
Allele Frequency Aggregator	European	Sub	100424	C=0.809498	G=0.190502
Allele Frequency Aggregator	Other	Sub	8138	C=0.8133	G=0.1867
Allele Frequency Aggregator	African	Sub	4404	C=0.7809	G=0.2191
Allele Frequency Aggregator	Asian	Sub	3332	C=0.8367	G=0.1633
Allele Frequency Aggregator	Latin American 2	Sub	962	C=0.840	G=0.160
Allele Frequency Aggregator	Latin American 1	Sub	794	C=0.819	G=0.181
Allele Frequency Aggregator	South Asian	Sub	274	C=0.810	G=0.190
The PAGE Study	Global	Study-wide	78698	C=0.80273	G=0.19727
The PAGE Study	AfricanAmerican	Sub	32514	C=0.77364	G=0.22636
The PAGE Study	Mexican	Sub	10810	C=0.83451	G=0.16549
The PAGE Study	Asian	Sub	8318	C=0.7712	G=0.2288
The PAGE Study	PuertoRican	Sub	7918	C=0.8214	G=0.1786
The PAGE Study	NativeHawaiian	Sub	4534	C=0.8992	G=0.1008
The PAGE Study	Cuban	Sub	4228	C=0.8231	G=0.1769
The PAGE Study	Dominican	Sub	3828	C=0.8056	G=0.1944
The PAGE Study	CentralAmerican	Sub	2450	C=0.8380	G=0.1620
The PAGE Study	SouthAmerican	Sub	1982	C=0.8406	G=0.1594
The PAGE Study	NativeAmerican	Sub	1260	C=0.8262	G=0.1738
The PAGE Study	SouthAsian	Sub	856	C=0.792	G=0.208
14KJPN	JAPANESE	Study-wide	28258	C=0.73703	G=0.26297
8.3KJPN	JAPANESE	Study-wide	16760	C=0.73681	G=0.26319
GO Exome Sequencing Project	Global	Study-wide	13006	C=0.79871	G=0.20129
GO Exome Sequencing Project	European American	Sub	8600	C=0.8093	G=0.1907
GO Exome Sequencing Project	African American	Sub	4406	C=0.7780	G=0.2220
1000Genomes_30x	Global	Study-wide	6404	C=0.8056	G=0.1944
1000Genomes_30x	African	Sub	1786	C=0.7503	G=0.2497
1000Genomes_30x	Europe	Sub	1266	C=0.8199	G=0.1801
1000Genomes_30x	South Asian	Sub	1202	C=0.7812	G=0.2188
1000Genomes_30x	East Asian	Sub	1170	C=0.8641	G=0.1359
1000Genomes_30x	American	Sub	980	C=0.848	G=0.152
1000Genomes	Global	Study-wide	5008	C=0.8097	G=0.1903
1000Genomes	African	Sub	1322	C=0.7670	G=0.2330
1000Genomes	East Asian	Sub	1008	C=0.8552	G=0.1448
1000Genomes	Europe	Sub	1006	C=0.8111	G=0.1889
1000Genomes	South Asian	Sub	978	C=0.790	G=0.210
1000Genomes	American	Sub	694	C=0.850	G=0.150
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.7714	G=0.2286
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.8191	G=0.1809
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8120	G=0.1880
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.7939	G=0.2061
HapMap	Global	Study-wide	1886	C=0.7869	G=0.2131
HapMap	American	Sub	766	C=0.819	G=0.181
HapMap	African	Sub	690	C=0.742	G=0.258
HapMap	Asian	Sub	254	C=0.772	G=0.228
HapMap	Europe	Sub	176	C=0.847	G=0.153
Korean Genome Project	KOREAN	Study-wide	1832	C=0.7926	G=0.2074
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.794	G=0.206
CNV burdens in cranial meningiomas	Global	Study-wide	788	C=0.860	G=0.140
CNV burdens in cranial meningiomas	CRM	Sub	788	C=0.860	G=0.140
A Vietnamese Genetic Variation Database	Global	Study-wide	614	C=0.897	G=0.103
Northern Sweden	ACPOP	Study-wide	600	C=0.803	G=0.197
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.830	G=0.170
PharmGKB Aggregated	Global	Study-wide	486	C=0.798	G=0.202
PharmGKB Aggregated	PA130339086	Sub	486	C=0.798	G=0.202
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.753	G=0.247
SGDP_PRJ	Global	Study-wide	218	C=0.445	G=0.555
Qatari	Global	Study-wide	216	C=0.792	G=0.208
The Danish reference pan genome	Danish	Study-wide	40	C=0.88	G=0.12
Siberian	Global	Study-wide	32	C=0.38	G=0.62

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 8	NC_000008.11:g.20179316C>G
GRCh37.p13 chr 8	NC_000008.10:g.20036827C>G

Gene: SLC18A1, solute carrier family 18 member A1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SLC18A1 transcript variant 2	NM_003053.4:c.293G>C	S [AGT] > T [ACT]	Coding Sequence Variant
chromaffin granule amine transporter isoform a	NP_003044.1:p.Ser98Thr	S (Ser) > T (Thr)	Missense Variant
SLC18A1 transcript variant 3	NM_001142324.2:c.293G>C	S [AGT] > T [ACT]	Coding Sequence Variant
chromaffin granule amine transporter isoform b	NP_001135796.1:p.Ser98Thr	S (Ser) > T (Thr)	Missense Variant
SLC18A1 transcript variant 4	NM_001142325.2:c.293G>C	S [AGT] > T [ACT]	Coding Sequence Variant
chromaffin granule amine transporter isoform c	NP_001135797.1:p.Ser98Thr	S (Ser) > T (Thr)	Missense Variant
SLC18A1 transcript variant 1	NM_001135691.3:c.293G>C	S [AGT] > T [ACT]	Coding Sequence Variant
chromaffin granule amine transporter isoform a	NP_001129163.1:p.Ser98Thr	S (Ser) > T (Thr)	Missense Variant
SLC18A1 transcript variant X1	XM_011544625.2:c.293G>C	S [AGT] > T [ACT]	Coding Sequence Variant
chromaffin granule amine transporter isoform X1	XP_011542927.1:p.Ser98Thr	S (Ser) > T (Thr)	Missense Variant
SLC18A1 transcript variant X2	XM_011544626.2:c.293G>C	S [AGT] > T [ACT]	Coding Sequence Variant
chromaffin granule amine transporter isoform X2	XP_011542928.1:p.Ser98Thr	S (Ser) > T (Thr)	Missense Variant
SLC18A1 transcript variant X3	XM_047422119.1:c.293G>C	S [AGT] > T [ACT]	Coding Sequence Variant
chromaffin granule amine transporter isoform X3	XP_047278075.1:p.Ser98Thr	S (Ser) > T (Thr)	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.

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=	G
GRCh38.p14 chr 8	NC_000008.11:g.20179316=	NC_000008.11:g.20179316C>G
GRCh37.p13 chr 8	NC_000008.10:g.20036827=	NC_000008.10:g.20036827C>G
SLC18A1 transcript variant 2	NM_003053.4:c.293=	NM_003053.4:c.293G>C
SLC18A1 transcript variant 2	NM_003053.3:c.293=	NM_003053.3:c.293G>C
SLC18A1 transcript variant 1	NM_001135691.3:c.293=	NM_001135691.3:c.293G>C
SLC18A1 transcript variant 1	NM_001135691.2:c.293=	NM_001135691.2:c.293G>C
SLC18A1 transcript variant 3	NM_001142324.2:c.293=	NM_001142324.2:c.293G>C
SLC18A1 transcript variant 3	NM_001142324.1:c.293=	NM_001142324.1:c.293G>C
SLC18A1 transcript variant 4	NM_001142325.2:c.293=	NM_001142325.2:c.293G>C
SLC18A1 transcript variant 4	NM_001142325.1:c.293=	NM_001142325.1:c.293G>C
SLC18A1 transcript variant X1	XM_011544625.2:c.293=	XM_011544625.2:c.293G>C
SLC18A1 transcript variant X1	XM_011544625.1:c.293=	XM_011544625.1:c.293G>C
SLC18A1 transcript variant X2	XM_011544626.2:c.293=	XM_011544626.2:c.293G>C
SLC18A1 transcript variant X2	XM_011544626.1:c.293=	XM_011544626.1:c.293G>C
SLC18A1 transcript variant X3	XM_047422119.1:c.293=	XM_047422119.1:c.293G>C
chromaffin granule amine transporter isoform a	NP_003044.1:p.Ser98=	NP_003044.1:p.Ser98Thr
chromaffin granule amine transporter isoform a	NP_001129163.1:p.Ser98=	NP_001129163.1:p.Ser98Thr
chromaffin granule amine transporter isoform b	NP_001135796.1:p.Ser98=	NP_001135796.1:p.Ser98Thr
chromaffin granule amine transporter isoform c	NP_001135797.1:p.Ser98=	NP_001135797.1:p.Ser98Thr
chromaffin granule amine transporter isoform X1	XP_011542927.1:p.Ser98=	XP_011542927.1:p.Ser98Thr
chromaffin granule amine transporter isoform X2	XP_011542928.1:p.Ser98=	XP_011542928.1:p.Ser98Thr
chromaffin granule amine transporter isoform X3	XP_047278075.1:p.Ser98=	XP_047278075.1:p.Ser98Thr

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#.

158 SubSNP, 28 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss3205143	Sep 28, 2001 (100)
2	WI_SSAHASNP	ss11930439	Jul 11, 2003 (116)
3	PERLEGEN	ss23713226	Sep 20, 2004 (123)
4	HG_BONN_CNS_SNPS	ss28447303	Sep 21, 2004 (123)
5	ABI	ss44845968	Mar 10, 2006 (126)
6	APPLERA_GI	ss48421614	Mar 10, 2006 (126)
7	ILLUMINA	ss65726400	Oct 15, 2006 (127)
8	AFFY	ss66170304	Nov 30, 2006 (127)
9	PERLEGEN	ss69043233	May 17, 2007 (127)
10	PHARMGKB_PMT	ss69367396	May 17, 2007 (127)
11	AFFY	ss76223388	Dec 07, 2007 (129)
12	KRIBB_YJKIM	ss81744918	Dec 15, 2007 (130)
13	HUMANGENOME_JCVI	ss98056611	Feb 06, 2009 (130)
14	1000GENOMES	ss112895900	Jan 25, 2009 (130)
15	1000GENOMES	ss115102393	Jan 25, 2009 (130)
16	ILLUMINA-UK	ss115864615	Feb 14, 2009 (130)
17	ENSEMBL	ss143376320	Dec 01, 2009 (131)
18	ILLUMINA	ss153896826	Dec 01, 2009 (131)
19	ILLUMINA	ss159101226	Dec 01, 2009 (131)
20	ILLUMINA	ss159374669	Dec 01, 2009 (131)
21	SEATTLESEQ	ss159716548	Dec 01, 2009 (131)
22	ILLUMINA	ss160524746	Dec 01, 2009 (131)
23	COMPLETE_GENOMICS	ss164135294	Jul 04, 2010 (132)
24	AFFY	ss172871661	Jul 04, 2010 (132)
25	ILLUMINA	ss173230106	Jul 04, 2010 (132)
26	BUSHMAN	ss198890579	Jul 04, 2010 (132)
27	1000GENOMES	ss223586998	Jul 14, 2010 (132)
28	1000GENOMES	ss234353358	Jul 15, 2010 (132)
29	1000GENOMES	ss241228019	Jul 15, 2010 (132)
30	GMI	ss279724826	May 04, 2012 (137)
31	GMI	ss285808265	Apr 25, 2013 (138)
32	PJP	ss294234698	May 09, 2011 (134)
33	NHLBI-ESP	ss342253858	May 09, 2011 (134)
34	ILLUMINA	ss480494911	May 04, 2012 (137)
35	ILLUMINA	ss480509256	May 04, 2012 (137)
36	ILLUMINA	ss481313261	Sep 08, 2015 (146)
37	ILLUMINA	ss485044965	May 04, 2012 (137)
38	1000GENOMES	ss490960979	May 04, 2012 (137)
39	EXOME_CHIP	ss491410939	May 04, 2012 (137)
40	CLINSEQ_SNP	ss491922025	May 04, 2012 (137)
41	ILLUMINA	ss537065597	Sep 08, 2015 (146)
42	TISHKOFF	ss560601691	Apr 25, 2013 (138)
43	SSMP	ss655036949	Apr 25, 2013 (138)
44	ILLUMINA	ss778343106	Aug 21, 2014 (142)
45	ILLUMINA	ss780867960	Aug 21, 2014 (142)
46	ILLUMINA	ss782968705	Aug 21, 2014 (142)
47	ILLUMINA	ss783552894	Aug 21, 2014 (142)
48	ILLUMINA	ss783930432	Aug 21, 2014 (142)
49	ILLUMINA	ss832224999	Apr 01, 2015 (144)
50	ILLUMINA	ss832886479	Aug 21, 2014 (142)
51	ILLUMINA	ss833477309	Aug 21, 2014 (142)
52	ILLUMINA	ss833797737	Aug 21, 2014 (142)
53	JMKIDD_LAB	ss974467424	Aug 21, 2014 (142)
54	EVA-GONL	ss985274822	Aug 21, 2014 (142)
55	JMKIDD_LAB	ss1067495979	Aug 21, 2014 (142)
56	JMKIDD_LAB	ss1075341960	Aug 21, 2014 (142)
57	1000GENOMES	ss1328923598	Aug 21, 2014 (142)
58	DDI	ss1431442236	Apr 01, 2015 (144)
59	EVA_GENOME_DK	ss1582594650	Apr 01, 2015 (144)
60	EVA_FINRISK	ss1584057364	Apr 01, 2015 (144)
61	EVA_DECODE	ss1594864536	Apr 01, 2015 (144)
62	EVA_UK10K_ALSPAC	ss1620138371	Apr 01, 2015 (144)
63	EVA_UK10K_TWINSUK	ss1663132404	Apr 01, 2015 (144)
64	EVA_EXAC	ss1689112457	Apr 01, 2015 (144)
65	EVA_MGP	ss1711194791	Apr 01, 2015 (144)
66	EVA_SVP	ss1713021277	Apr 01, 2015 (144)
67	ILLUMINA	ss1752723397	Sep 08, 2015 (146)
68	ILLUMINA	ss1752723398	Sep 08, 2015 (146)
69	HAMMER_LAB	ss1805433809	Sep 08, 2015 (146)
70	ILLUMINA	ss1917826365	Feb 12, 2016 (147)
71	WEILL_CORNELL_DGM	ss1928564700	Feb 12, 2016 (147)
72	ILLUMINA	ss1946231612	Feb 12, 2016 (147)
73	ILLUMINA	ss1959094303	Feb 12, 2016 (147)
74	JJLAB	ss2024981810	Sep 14, 2016 (149)
75	USC_VALOUEV	ss2153203141	Dec 20, 2016 (150)
76	HUMAN_LONGEVITY	ss2301305696	Dec 20, 2016 (150)
77	SYSTEMSBIOZJU	ss2626975752	Nov 08, 2017 (151)
78	ILLUMINA	ss2634720828	Nov 08, 2017 (151)
79	GRF	ss2708963722	Nov 08, 2017 (151)
80	GNOMAD	ss2737023609	Nov 08, 2017 (151)
81	GNOMAD	ss2748008110	Nov 08, 2017 (151)
82	GNOMAD	ss2864115247	Nov 08, 2017 (151)
83	AFFY	ss2985433140	Nov 08, 2017 (151)
84	AFFY	ss2986076537	Nov 08, 2017 (151)
85	SWEGEN	ss3002807515	Nov 08, 2017 (151)
86	ILLUMINA	ss3022826503	Nov 08, 2017 (151)
87	EVA_SAMSUNG_MC	ss3023063899	Nov 08, 2017 (151)
88	BIOINF_KMB_FNS_UNIBA	ss3026281777	Nov 08, 2017 (151)
89	CSHL	ss3348082962	Nov 08, 2017 (151)
90	ILLUMINA	ss3630014208	Oct 12, 2018 (152)
91	ILLUMINA	ss3630014209	Oct 12, 2018 (152)
92	ILLUMINA	ss3632621311	Oct 12, 2018 (152)
93	ILLUMINA	ss3633493811	Oct 12, 2018 (152)
94	ILLUMINA	ss3634220261	Oct 12, 2018 (152)
95	ILLUMINA	ss3635162308	Oct 12, 2018 (152)
96	ILLUMINA	ss3635162309	Oct 12, 2018 (152)
97	ILLUMINA	ss3635899229	Oct 12, 2018 (152)
98	ILLUMINA	ss3636899383	Oct 12, 2018 (152)
99	ILLUMINA	ss3637652369	Oct 12, 2018 (152)
100	ILLUMINA	ss3638748504	Oct 12, 2018 (152)
101	ILLUMINA	ss3640869598	Oct 12, 2018 (152)
102	ILLUMINA	ss3640869599	Oct 12, 2018 (152)
103	ILLUMINA	ss3644964785	Oct 12, 2018 (152)
104	OMUKHERJEE_ADBS	ss3646373062	Oct 12, 2018 (152)
105	URBANLAB	ss3648868919	Oct 12, 2018 (152)
106	ILLUMINA	ss3653367477	Oct 12, 2018 (152)
107	ILLUMINA	ss3654194955	Oct 12, 2018 (152)
108	EGCUT_WGS	ss3670487803	Jul 13, 2019 (153)
109	EVA_DECODE	ss3721559448	Jul 13, 2019 (153)
110	ILLUMINA	ss3726520732	Jul 13, 2019 (153)
111	ACPOP	ss3735468839	Jul 13, 2019 (153)
112	ILLUMINA	ss3744577799	Jul 13, 2019 (153)
113	ILLUMINA	ss3745462088	Jul 13, 2019 (153)
114	ILLUMINA	ss3745462089	Jul 13, 2019 (153)
115	EVA	ss3767720414	Jul 13, 2019 (153)
116	PAGE_CC	ss3771429002	Jul 13, 2019 (153)
117	ILLUMINA	ss3772954681	Jul 13, 2019 (153)
118	ILLUMINA	ss3772954682	Jul 13, 2019 (153)
119	KHV_HUMAN_GENOMES	ss3810883929	Jul 13, 2019 (153)
120	EVA	ss3824351613	Apr 26, 2020 (154)
121	EVA	ss3825525055	Apr 26, 2020 (154)
122	EVA	ss3825540778	Apr 26, 2020 (154)
123	EVA	ss3825737126	Apr 26, 2020 (154)
124	EVA	ss3831056087	Apr 26, 2020 (154)
125	EVA	ss3839038185	Apr 26, 2020 (154)
126	EVA	ss3844496215	Apr 26, 2020 (154)
127	SGDP_PRJ	ss3869440946	Apr 26, 2020 (154)
128	KRGDB	ss3916866890	Apr 26, 2020 (154)
129	KOGIC	ss3963405938	Apr 26, 2020 (154)
130	FSA-LAB	ss3984393786	Apr 27, 2021 (155)
131	FSA-LAB	ss3984393787	Apr 27, 2021 (155)
132	EVA	ss3984602310	Apr 27, 2021 (155)
133	EVA	ss3986043092	Apr 27, 2021 (155)
134	EVA	ss3986415597	Apr 27, 2021 (155)
135	EVA	ss4017380065	Apr 27, 2021 (155)
136	TOPMED	ss4778161801	Apr 27, 2021 (155)
137	TOMMO_GENOMICS	ss5187662966	Apr 27, 2021 (155)
138	EVA	ss5237041087	Apr 27, 2021 (155)
139	EVA	ss5237200400	Apr 27, 2021 (155)
140	EVA	ss5237651014	Oct 14, 2022 (156)
141	1000G_HIGH_COVERAGE	ss5276337265	Oct 14, 2022 (156)
142	EVA	ss5315317037	Oct 14, 2022 (156)
143	EVA	ss5379655307	Oct 14, 2022 (156)
144	HUGCELL_USP	ss5472987540	Oct 14, 2022 (156)
145	EVA	ss5509275896	Oct 14, 2022 (156)
146	1000G_HIGH_COVERAGE	ss5566264764	Oct 14, 2022 (156)
147	EVA	ss5624176114	Oct 14, 2022 (156)
148	SANFORD_IMAGENETICS	ss5644928090	Oct 14, 2022 (156)
149	TOMMO_GENOMICS	ss5729281968	Oct 14, 2022 (156)
150	EVA	ss5800059228	Oct 14, 2022 (156)
151	YY_MCH	ss5809518366	Oct 14, 2022 (156)
152	EVA	ss5830227236	Oct 14, 2022 (156)
153	EVA	ss5848169657	Oct 14, 2022 (156)
154	EVA	ss5848702330	Oct 14, 2022 (156)
155	EVA	ss5856287940	Oct 14, 2022 (156)
156	EVA	ss5888029910	Oct 14, 2022 (156)
157	EVA	ss5936538500	Oct 14, 2022 (156)
158	EVA	ss5974108870	Oct 14, 2022 (156)
159	1000Genomes	NC_000008.10 - 20036827	Oct 12, 2018 (152)
160	1000Genomes_30x	NC_000008.11 - 20179316	Oct 14, 2022 (156)
161	The Avon Longitudinal Study of Parents and Children	NC_000008.10 - 20036827	Oct 12, 2018 (152)
162	Genetic variation in the Estonian population	NC_000008.10 - 20036827	Oct 12, 2018 (152)
163	ExAC	NC_000008.10 - 20036827	Oct 12, 2018 (152)
164	FINRISK	NC_000008.10 - 20036827	Apr 26, 2020 (154)
165	The Danish reference pan genome	NC_000008.10 - 20036827	Apr 26, 2020 (154)
166	gnomAD - Genomes	NC_000008.11 - 20179316	Apr 27, 2021 (155)
167	gnomAD - Exomes	NC_000008.10 - 20036827	Jul 13, 2019 (153)
168	GO Exome Sequencing Project	NC_000008.10 - 20036827	Oct 12, 2018 (152)
169	Genome of the Netherlands Release 5	NC_000008.10 - 20036827	Apr 26, 2020 (154)
170	HapMap	NC_000008.11 - 20179316	Apr 26, 2020 (154)
171	KOREAN population from KRGDB	NC_000008.10 - 20036827	Apr 26, 2020 (154)
172	Korean Genome Project	NC_000008.11 - 20179316	Apr 26, 2020 (154)
173	Medical Genome Project healthy controls from Spanish population	NC_000008.10 - 20036827	Apr 26, 2020 (154)
174	Northern Sweden	NC_000008.10 - 20036827	Jul 13, 2019 (153)
175	The PAGE Study	NC_000008.11 - 20179316	Jul 13, 2019 (153)
176	CNV burdens in cranial meningiomas	NC_000008.10 - 20036827	Apr 27, 2021 (155)
177	PharmGKB Aggregated	NC_000008.11 - 20179316	Apr 26, 2020 (154)
178	Qatari	NC_000008.10 - 20036827	Apr 26, 2020 (154)
179	SGDP_PRJ	NC_000008.10 - 20036827	Apr 26, 2020 (154)
180	Siberian	NC_000008.10 - 20036827	Apr 26, 2020 (154)
181	8.3KJPN	NC_000008.10 - 20036827	Apr 27, 2021 (155)
182	14KJPN	NC_000008.11 - 20179316	Oct 14, 2022 (156)
183	TopMed	NC_000008.11 - 20179316	Apr 27, 2021 (155)
184	UK 10K study - Twins	NC_000008.10 - 20036827	Oct 12, 2018 (152)
185	A Vietnamese Genetic Variation Database	NC_000008.10 - 20036827	Jul 13, 2019 (153)
186	ALFA	NC_000008.11 - 20179316	Apr 27, 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)
rs17215794	Mar 10, 2006 (126)
rs17840572	Oct 08, 2004 (123)
rs58888766	Feb 27, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss66170304, ss76223388, ss112895900, ss115102393, ss115864615, ss160524746, ss164135294, ss172871661, ss198890579, ss279724826, ss285808265, ss294234698, ss480494911, ss491922025, ss1594864536, ss1713021277	NC_000008.9:20081106:C:G	NC_000008.11:20179315:C:G	(self)
41018530, 22802061, 16226051, 9206103, 53825, 8759588, 6192117, 809462, 10189113, 24044284, 310551, 8753704, 151746, 10606630, 21457926, 5719495, 45632273, 22802061, 5084556, ss223586998, ss234353358, ss241228019, ss342253858, ss480509256, ss481313261, ss485044965, ss490960979, ss491410939, ss537065597, ss560601691, ss655036949, ss778343106, ss780867960, ss782968705, ss783552894, ss783930432, ss832224999, ss832886479, ss833477309, ss833797737, ss974467424, ss985274822, ss1067495979, ss1075341960, ss1328923598, ss1431442236, ss1582594650, ss1584057364, ss1620138371, ss1663132404, ss1689112457, ss1711194791, ss1752723397, ss1752723398, ss1805433809, ss1917826365, ss1928564700, ss1946231612, ss1959094303, ss2024981810, ss2153203141, ss2626975752, ss2634720828, ss2708963722, ss2737023609, ss2748008110, ss2864115247, ss2985433140, ss2986076537, ss3002807515, ss3022826503, ss3023063899, ss3348082962, ss3630014208, ss3630014209, ss3632621311, ss3633493811, ss3634220261, ss3635162308, ss3635162309, ss3635899229, ss3636899383, ss3637652369, ss3638748504, ss3640869598, ss3640869599, ss3644964785, ss3646373062, ss3653367477, ss3654194955, ss3670487803, ss3735468839, ss3744577799, ss3745462088, ss3745462089, ss3767720414, ss3772954681, ss3772954682, ss3824351613, ss3825525055, ss3825540778, ss3825737126, ss3831056087, ss3839038185, ss3869440946, ss3916866890, ss3984393786, ss3984393787, ss3984602310, ss3986043092, ss3986415597, ss4017380065, ss5187662966, ss5315317037, ss5379655307, ss5509275896, ss5624176114, ss5644928090, ss5800059228, ss5830227236, ss5848169657, ss5848702330, ss5936538500, ss5974108870	NC_000008.10:20036826:C:G	NC_000008.11:20179315:C:G	(self)
53790699, 289252105, 3581449, 19783939, 650471, 12470, 63119072, 615539361, 2671854862, ss2301305696, ss3026281777, ss3648868919, ss3721559448, ss3726520732, ss3771429002, ss3810883929, ss3844496215, ss3963405938, ss4778161801, ss5237041087, ss5237200400, ss5237651014, ss5276337265, ss5472987540, ss5566264764, ss5729281968, ss5809518366, ss5856287940, ss5888029910	NC_000008.11:20179315:C:G	NC_000008.11:20179315:C:G	(self)
ss11930439	NT_030737.7:3758050:C:G	NC_000008.11:20179315:C:G	(self)
ss3205143, ss23713226, ss28447303, ss44845968, ss48421614, ss65726400, ss69043233, ss69367396, ss81744918, ss98056611, ss143376320, ss153896826, ss159101226, ss159374669, ss159716548, ss173230106	NT_167187.1:7894972:C:G	NC_000008.11:20179315:C:G	(self)

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

4 citations for rs2270637

PMID	Title	Author	Year	Journal
16936705	Variations in the vesicular monoamine transporter 1 gene (VMAT1/SLC18A1) are associated with bipolar i disorder.	Lohoff FW et al.	2006	Neuropsychopharmacology
17134514	Association study of the vesicular monoamine transporter 1 (VMAT1) gene with schizophrenia in a Japanese population.	Richards M et al.	2006	Behavioral and brain functions
28476685	Association study of the vesicular monoamine transporter 1 (VMAT1) gene with autism in an Iranian population.	Noroozi R et al.	2017	Gene
29536333	Association Study of VMAT1 Polymorphisms and Suicide Behavior.	Sayad A et al.	2018	Journal of molecular neuroscience

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

rs2270637