Name: rs3819331
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.

rs3819331

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:112228687 (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: T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.109607 (29012/264690, TOPMED)
C=0.166027 (41463/249736, GnomAD_exome)
C=0.140485 (31678/225490, ALFA) (+ 27 more)
C=0.109839 (15368/139914, GnomAD)
C=0.172289 (20469/118806, ExAC)
C=0.19442 (5494/28258, 14KJPN)
C=0.19370 (3246/16758, 8.3KJPN)
C=0.10996 (1429/12996, GO-ESP)
C=0.1718 (1100/6404, 1000G_30x)
C=0.1753 (878/5008, 1000G)
C=0.1329 (595/4478, Estonian)
C=0.1409 (543/3854, ALSPAC)
C=0.1642 (609/3708, TWINSUK)
C=0.2502 (733/2930, KOREAN)
C=0.1507 (314/2084, HGDP_Stanford)
C=0.2489 (456/1832, Korea1K)
C=0.1394 (249/1786, HapMap)
C=0.152 (152/998, GoNL)
C=0.263 (206/784, PRJEB37584)
C=0.147 (92/626, Chileans)
C=0.282 (172/610, Vietnamese)
C=0.153 (92/600, NorthernSweden)
C=0.131 (70/534, MGP)
C=0.174 (53/304, FINRISK)
C=0.079 (17/216, Qatari)
T=0.448 (78/174, SGDP_PRJ)
C=0.06 (4/64, Ancient Sardinia)
C=0.15 (6/40, GENOME_DK)
T=0.50 (6/12, Siberian)
C=0.50 (6/12, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: PTS : Intron Variant
Publications: 1 citation
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	225584	T=0.859529	C=0.140471
European	Sub	188740	T=0.857248	C=0.142752
African	Sub	11012	T=0.96912	C=0.03088
African Others	Sub	366	T=0.997	C=0.003
African American	Sub	10646	T=0.96816	C=0.03184
Asian	Sub	808	T=0.730	C=0.270
East Asian	Sub	600	T=0.715	C=0.285
Other Asian	Sub	208	T=0.774	C=0.226
Latin American 1	Sub	990	T=0.870	C=0.130
Latin American 2	Sub	9018	T=0.8707	C=0.1293
South Asian	Sub	5056	T=0.6962	C=0.3038
Other	Sub	9960	T=0.8639	C=0.1361

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	T=0.890393	C=0.109607
gnomAD - Exomes	Global	Study-wide	249736	T=0.833973	C=0.166027
gnomAD - Exomes	European	Sub	134290	T=0.853392	C=0.146608
gnomAD - Exomes	Asian	Sub	48712	T=0.69999	C=0.30001
gnomAD - Exomes	American	Sub	34458	T=0.86967	C=0.13033
gnomAD - Exomes	African	Sub	16126	T=0.97513	C=0.02487
gnomAD - Exomes	Ashkenazi Jewish	Sub	10044	T=0.86529	C=0.13471
gnomAD - Exomes	Other	Sub	6106	T=0.8500	C=0.1500
Allele Frequency Aggregator	Total	Global	225490	T=0.859515	C=0.140485
Allele Frequency Aggregator	European	Sub	188664	T=0.857222	C=0.142778
Allele Frequency Aggregator	African	Sub	11012	T=0.96912	C=0.03088
Allele Frequency Aggregator	Other	Sub	9942	T=0.8640	C=0.1360
Allele Frequency Aggregator	Latin American 2	Sub	9018	T=0.8707	C=0.1293
Allele Frequency Aggregator	South Asian	Sub	5056	T=0.6962	C=0.3038
Allele Frequency Aggregator	Latin American 1	Sub	990	T=0.870	C=0.130
Allele Frequency Aggregator	Asian	Sub	808	T=0.730	C=0.270
gnomAD - Genomes	Global	Study-wide	139914	T=0.890161	C=0.109839
gnomAD - Genomes	European	Sub	75762	T=0.85674	C=0.14326
gnomAD - Genomes	African	Sub	41948	T=0.97073	C=0.02927
gnomAD - Genomes	American	Sub	13616	T=0.87265	C=0.12735
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	T=0.8708	C=0.1292
gnomAD - Genomes	East Asian	Sub	3120	T=0.7176	C=0.2824
gnomAD - Genomes	Other	Sub	2148	T=0.8873	C=0.1127
ExAC	Global	Study-wide	118806	T=0.827711	C=0.172289
ExAC	Europe	Sub	71928	T=0.84820	C=0.15180
ExAC	Asian	Sub	24770	T=0.69213	C=0.30787
ExAC	American	Sub	11328	T=0.86873	C=0.13127
ExAC	African	Sub	9884	T=0.9702	C=0.0298
ExAC	Other	Sub	896	T=0.842	C=0.158
14KJPN	JAPANESE	Study-wide	28258	T=0.80558	C=0.19442
8.3KJPN	JAPANESE	Study-wide	16758	T=0.80630	C=0.19370
GO Exome Sequencing Project	Global	Study-wide	12996	T=0.89004	C=0.10996
GO Exome Sequencing Project	European American	Sub	8594	T=0.8512	C=0.1488
GO Exome Sequencing Project	African American	Sub	4402	T=0.9659	C=0.0341
1000Genomes_30x	Global	Study-wide	6404	T=0.8282	C=0.1718
1000Genomes_30x	African	Sub	1786	T=0.9916	C=0.0084
1000Genomes_30x	Europe	Sub	1266	T=0.8531	C=0.1469
1000Genomes_30x	South Asian	Sub	1202	T=0.6140	C=0.3860
1000Genomes_30x	East Asian	Sub	1170	T=0.7496	C=0.2504
1000Genomes_30x	American	Sub	980	T=0.855	C=0.145
1000Genomes	Global	Study-wide	5008	T=0.8247	C=0.1753
1000Genomes	African	Sub	1322	T=0.9894	C=0.0106
1000Genomes	East Asian	Sub	1008	T=0.7530	C=0.2470
1000Genomes	Europe	Sub	1006	T=0.8549	C=0.1451
1000Genomes	South Asian	Sub	978	T=0.619	C=0.381
1000Genomes	American	Sub	694	T=0.862	C=0.138
Genetic variation in the Estonian population	Estonian	Study-wide	4478	T=0.8671	C=0.1329
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.8591	C=0.1409
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.8358	C=0.1642
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.7498	C=0.2502
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	T=0.8493	C=0.1507
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=0.817	C=0.183
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.780	C=0.220
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.934	C=0.066
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.838	C=0.163
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=1.000	C=0.000
HGDP-CEPH-db Supplement 1	America	Sub	216	T=0.866	C=0.134
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.54	C=0.46
Korean Genome Project	KOREAN	Study-wide	1832	T=0.7511	C=0.2489
HapMap	Global	Study-wide	1786	T=0.8606	C=0.1394
HapMap	American	Sub	770	T=0.768	C=0.232
HapMap	African	Sub	586	T=0.990	C=0.010
HapMap	Asian	Sub	254	T=0.827	C=0.173
HapMap	Europe	Sub	176	T=0.886	C=0.114
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.848	C=0.152
CNV burdens in cranial meningiomas	Global	Study-wide	784	T=0.737	C=0.263
CNV burdens in cranial meningiomas	CRM	Sub	784	T=0.737	C=0.263
Chileans	Chilean	Study-wide	626	T=0.853	C=0.147
A Vietnamese Genetic Variation Database	Global	Study-wide	610	T=0.718	C=0.282
Northern Sweden	ACPOP	Study-wide	600	T=0.847	C=0.153
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.869	C=0.131
FINRISK	Finnish from FINRISK project	Study-wide	304	T=0.826	C=0.174
Qatari	Global	Study-wide	216	T=0.921	C=0.079
SGDP_PRJ	Global	Study-wide	174	T=0.448	C=0.552
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	64	T=0.94	C=0.06
The Danish reference pan genome	Danish	Study-wide	40	T=0.85	C=0.15
Siberian	Global	Study-wide	12	T=0.50	C=0.50

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 11	NC_000011.10:g.112228687T>C
GRCh37.p13 chr 11	NC_000011.9:g.112099410T>C
PTS RefSeqGene	NG_008743.1:g.7323T>C

Gene: PTS, 6-pyruvoyltetrahydropterin synthase (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PTS transcript	NM_000317.3:c.163+14T>C	N/A	Intron 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: C (allele ID: 325159 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000298411.9	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	Benign
RCV001712010.1	not provided	Benign

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	T=	C
GRCh38.p14 chr 11	NC_000011.10:g.112228687=	NC_000011.10:g.112228687T>C
GRCh37.p13 chr 11	NC_000011.9:g.112099410=	NC_000011.9:g.112099410T>C
PTS RefSeqGene	NG_008743.1:g.7323=	NG_008743.1:g.7323T>C
PTS transcript	NM_000317.2:c.163+14=	NM_000317.2:c.163+14T>C
PTS transcript	NM_000317.3:c.163+14=	NM_000317.3:c.163+14T>C

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#.

142 SubSNP, 29 Frequency, 2 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss5005746	Aug 28, 2002 (107)
2	BCM_SSAHASNP	ss10649954	Jul 11, 2003 (116)
3	SC_SNP	ss15806029	Feb 27, 2004 (120)
4	ABI	ss38755615	Mar 13, 2006 (126)
5	AFFY	ss66108812	Nov 30, 2006 (127)
6	ILLUMINA	ss66682011	Nov 30, 2006 (127)
7	ILLUMINA	ss67306536	Nov 30, 2006 (127)
8	ILLUMINA	ss67711737	Nov 30, 2006 (127)
9	PERLEGEN	ss69328927	May 17, 2007 (127)
10	ILLUMINA	ss70785182	May 24, 2008 (130)
11	ILLUMINA	ss71361920	May 17, 2007 (127)
12	ILLUMINA	ss75608477	Dec 07, 2007 (129)
13	AFFY	ss76086652	Dec 08, 2007 (130)
14	ILLUMINA	ss79169707	Dec 14, 2007 (130)
15	KRIBB_YJKIM	ss80746233	Dec 14, 2007 (130)
16	KRIBB_YJKIM	ss84198025	Dec 14, 2007 (130)
17	HUMANGENOME_JCVI	ss97511915	Feb 04, 2009 (130)
18	BGI	ss103001269	Dec 01, 2009 (131)
19	1000GENOMES	ss111086916	Jan 25, 2009 (130)
20	ILLUMINA	ss122237455	Dec 01, 2009 (131)
21	ILLUMINA	ss154272886	Dec 01, 2009 (131)
22	GMI	ss156798281	Dec 01, 2009 (131)
23	ILLUMINA	ss159449617	Dec 01, 2009 (131)
24	ILLUMINA	ss160647483	Dec 01, 2009 (131)
25	ILLUMINA	ss171680938	Jul 04, 2010 (132)
26	AFFY	ss172455272	Jul 04, 2010 (132)
27	ILLUMINA	ss173654078	Jul 04, 2010 (132)
28	1000GENOMES	ss235721423	Jul 15, 2010 (132)
29	1000GENOMES	ss242318764	Jul 15, 2010 (132)
30	BL	ss255381283	May 09, 2011 (134)
31	GMI	ss281173264	May 04, 2012 (137)
32	GMI	ss286458706	Apr 25, 2013 (138)
33	ILLUMINA	ss480851180	May 04, 2012 (137)
34	ILLUMINA	ss480868874	May 04, 2012 (137)
35	ILLUMINA	ss481804625	Sep 08, 2015 (146)
36	ILLUMINA	ss485220538	May 04, 2012 (137)
37	1000GENOMES	ss491029312	May 04, 2012 (137)
38	CLINSEQ_SNP	ss491654079	May 04, 2012 (137)
39	ILLUMINA	ss536232329	Sep 08, 2015 (146)
40	SSMP	ss658352605	Apr 25, 2013 (138)
41	NHLBI-ESP	ss713056905	Apr 25, 2013 (138)
42	ILLUMINA	ss778525951	Aug 21, 2014 (142)
43	ILLUMINA	ss783056216	Aug 21, 2014 (142)
44	ILLUMINA	ss784014474	Aug 21, 2014 (142)
45	ILLUMINA	ss825500225	Apr 01, 2015 (144)
46	ILLUMINA	ss832314120	Apr 01, 2015 (144)
47	ILLUMINA	ss832961171	Aug 21, 2014 (142)
48	ILLUMINA	ss833552000	Aug 21, 2014 (142)
49	ILLUMINA	ss833982424	Aug 21, 2014 (142)
50	EVA-GONL	ss988969476	Aug 21, 2014 (142)
51	JMKIDD_LAB	ss1067528141	Aug 21, 2014 (142)
52	JMKIDD_LAB	ss1078049988	Aug 21, 2014 (142)
53	1000GENOMES	ss1342990361	Aug 21, 2014 (142)
54	DDI	ss1426762986	Apr 01, 2015 (144)
55	EVA_GENOME_DK	ss1575956936	Apr 01, 2015 (144)
56	EVA_FINRISK	ss1584078024	Apr 01, 2015 (144)
57	EVA_DECODE	ss1598634790	Apr 01, 2015 (144)
58	EVA_UK10K_ALSPAC	ss1627475163	Apr 01, 2015 (144)
59	EVA_UK10K_TWINSUK	ss1670469196	Apr 01, 2015 (144)
60	EVA_EXAC	ss1690634383	Apr 01, 2015 (144)
61	EVA_MGP	ss1711308861	Apr 01, 2015 (144)
62	EVA_SVP	ss1713285122	Apr 01, 2015 (144)
63	ILLUMINA	ss1751994625	Sep 08, 2015 (146)
64	WEILL_CORNELL_DGM	ss1932330624	Feb 12, 2016 (147)
65	GENOMED	ss1967460120	Jul 19, 2016 (147)
66	JJLAB	ss2026909311	Sep 14, 2016 (149)
67	ILLUMINA	ss2095026243	Dec 20, 2016 (150)
68	USC_VALOUEV	ss2155221885	Dec 20, 2016 (150)
69	HUMAN_LONGEVITY	ss2185758623	Dec 20, 2016 (150)
70	SYSTEMSBIOZJU	ss2627929192	Nov 08, 2017 (151)
71	ILLUMINA	ss2632888013	Nov 08, 2017 (151)
72	ILLUMINA	ss2635030433	Nov 08, 2017 (151)
73	GRF	ss2699531238	Nov 08, 2017 (151)
74	GNOMAD	ss2739390823	Nov 08, 2017 (151)
75	GNOMAD	ss2748740348	Nov 08, 2017 (151)
76	GNOMAD	ss2904532001	Nov 08, 2017 (151)
77	AFFY	ss2984957385	Nov 08, 2017 (151)
78	AFFY	ss2985598759	Nov 08, 2017 (151)
79	SWEGEN	ss3008790493	Nov 08, 2017 (151)
80	BIOINF_KMB_FNS_UNIBA	ss3027255128	Nov 08, 2017 (151)
81	CSHL	ss3349797837	Nov 08, 2017 (151)
82	ILLUMINA	ss3626751182	Oct 12, 2018 (152)
83	ILLUMINA	ss3630901965	Oct 12, 2018 (152)
84	ILLUMINA	ss3632999549	Oct 12, 2018 (152)
85	ILLUMINA	ss3633699511	Oct 12, 2018 (152)
86	ILLUMINA	ss3634475553	Oct 12, 2018 (152)
87	ILLUMINA	ss3635390792	Oct 12, 2018 (152)
88	ILLUMINA	ss3636159853	Oct 12, 2018 (152)
89	ILLUMINA	ss3637141695	Oct 12, 2018 (152)
90	ILLUMINA	ss3637930741	Oct 12, 2018 (152)
91	ILLUMINA	ss3638979051	Oct 12, 2018 (152)
92	ILLUMINA	ss3639490775	Oct 12, 2018 (152)
93	ILLUMINA	ss3640182889	Oct 12, 2018 (152)
94	ILLUMINA	ss3641020920	Oct 12, 2018 (152)
95	ILLUMINA	ss3641315457	Oct 12, 2018 (152)
96	ILLUMINA	ss3642927192	Oct 12, 2018 (152)
97	OMUKHERJEE_ADBS	ss3646432809	Oct 12, 2018 (152)
98	URBANLAB	ss3649706629	Oct 12, 2018 (152)
99	ILLUMINA	ss3651743983	Oct 12, 2018 (152)
100	ILLUMINA	ss3653729483	Oct 12, 2018 (152)
101	EGCUT_WGS	ss3676116873	Jul 13, 2019 (153)
102	EVA_DECODE	ss3692611197	Jul 13, 2019 (153)
103	ACPOP	ss3738545632	Jul 13, 2019 (153)
104	ILLUMINA	ss3744776329	Jul 13, 2019 (153)
105	EVA	ss3749818708	Jul 13, 2019 (153)
106	ILLUMINA	ss3772276094	Jul 13, 2019 (153)
107	KHV_HUMAN_GENOMES	ss3815150175	Jul 13, 2019 (153)
108	EVA	ss3824671690	Apr 26, 2020 (154)
109	EVA	ss3825809439	Apr 26, 2020 (154)
110	EVA	ss3832842271	Apr 26, 2020 (154)
111	EVA	ss3839983087	Apr 26, 2020 (154)
112	EVA	ss3845464769	Apr 26, 2020 (154)
113	HGDP	ss3847431532	Apr 26, 2020 (154)
114	SGDP_PRJ	ss3877150537	Apr 26, 2020 (154)
115	KRGDB	ss3925607252	Apr 26, 2020 (154)
116	KOGIC	ss3970759550	Apr 26, 2020 (154)
117	FSA-LAB	ss3984013548	Apr 26, 2021 (155)
118	EVA	ss3984657355	Apr 26, 2021 (155)
119	EVA	ss3985557241	Apr 26, 2021 (155)
120	EVA	ss3986545383	Apr 26, 2021 (155)
121	EVA	ss4017559321	Apr 26, 2021 (155)
122	TOPMED	ss4900204365	Apr 26, 2021 (155)
123	TOMMO_GENOMICS	ss5203919551	Apr 26, 2021 (155)
124	EVA	ss5237216654	Apr 26, 2021 (155)
125	1000G_HIGH_COVERAGE	ss5288924544	Oct 16, 2022 (156)
126	TRAN_CS_UWATERLOO	ss5314433285	Oct 16, 2022 (156)
127	EVA	ss5315577126	Oct 16, 2022 (156)
128	EVA	ss5402282896	Oct 16, 2022 (156)
129	HUGCELL_USP	ss5483910531	Oct 16, 2022 (156)
130	1000G_HIGH_COVERAGE	ss5585420904	Oct 16, 2022 (156)
131	EVA	ss5624025582	Oct 16, 2022 (156)
132	SANFORD_IMAGENETICS	ss5652085591	Oct 16, 2022 (156)
133	TOMMO_GENOMICS	ss5752375796	Oct 16, 2022 (156)
134	EVA	ss5799854469	Oct 16, 2022 (156)
135	EVA	ss5800171859	Oct 16, 2022 (156)
136	YY_MCH	ss5812782232	Oct 16, 2022 (156)
137	EVA	ss5837237784	Oct 16, 2022 (156)
138	EVA	ss5848337180	Oct 16, 2022 (156)
139	EVA	ss5850153530	Oct 16, 2022 (156)
140	EVA	ss5921681964	Oct 16, 2022 (156)
141	EVA	ss5936550511	Oct 16, 2022 (156)
142	EVA	ss5943414104	Oct 16, 2022 (156)
143	1000Genomes	NC_000011.9 - 112099410	Oct 12, 2018 (152)
144	1000Genomes_30x	NC_000011.10 - 112228687	Oct 16, 2022 (156)
145	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 112099410	Oct 12, 2018 (152)
146	Chileans	NC_000011.9 - 112099410	Apr 26, 2020 (154)
147	Genetic variation in the Estonian population	NC_000011.9 - 112099410	Oct 12, 2018 (152)
148	ExAC	NC_000011.9 - 112099410	Oct 12, 2018 (152)
149	FINRISK	NC_000011.9 - 112099410	Apr 26, 2020 (154)
150	The Danish reference pan genome	NC_000011.9 - 112099410	Apr 26, 2020 (154)
151	gnomAD - Genomes	NC_000011.10 - 112228687	Apr 26, 2021 (155)
152	gnomAD - Exomes	NC_000011.9 - 112099410	Jul 13, 2019 (153)
153	GO Exome Sequencing Project	NC_000011.9 - 112099410	Oct 12, 2018 (152)
154	Genome of the Netherlands Release 5	NC_000011.9 - 112099410	Apr 26, 2020 (154)
155	HGDP-CEPH-db Supplement 1	NC_000011.8 - 111604620	Apr 26, 2020 (154)
156	HapMap	NC_000011.10 - 112228687	Apr 26, 2020 (154)
157	KOREAN population from KRGDB	NC_000011.9 - 112099410	Apr 26, 2020 (154)
158	Korean Genome Project	NC_000011.10 - 112228687	Apr 26, 2020 (154)
159	Medical Genome Project healthy controls from Spanish population	NC_000011.9 - 112099410	Apr 26, 2020 (154)
160	Northern Sweden	NC_000011.9 - 112099410	Jul 13, 2019 (153)
161	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000011.9 - 112099410	Apr 26, 2021 (155)
162	CNV burdens in cranial meningiomas	NC_000011.9 - 112099410	Apr 26, 2021 (155)
163	Qatari	NC_000011.9 - 112099410	Apr 26, 2020 (154)
164	SGDP_PRJ	NC_000011.9 - 112099410	Apr 26, 2020 (154)
165	Siberian	NC_000011.9 - 112099410	Apr 26, 2020 (154)
166	8.3KJPN	NC_000011.9 - 112099410	Apr 26, 2021 (155)
167	14KJPN	NC_000011.10 - 112228687	Oct 16, 2022 (156)
168	TopMed	NC_000011.10 - 112228687	Apr 26, 2021 (155)
169	UK 10K study - Twins	NC_000011.9 - 112099410	Oct 12, 2018 (152)
170	A Vietnamese Genetic Variation Database	NC_000011.9 - 112099410	Jul 13, 2019 (153)
171	ALFA	NC_000011.10 - 112228687	Apr 26, 2021 (155)
172	ClinVar	RCV000298411.9	Oct 16, 2022 (156)
173	ClinVar	RCV001712010.1	Oct 16, 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)
rs56520676	May 24, 2008 (130)
rs57865956	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
109424, ss66108812, ss76086652, ss111086916, ss160647483, ss172455272, ss255381283, ss281173264, ss286458706, ss480851180, ss491654079, ss825500225, ss1598634790, ss1713285122, ss2635030433, ss3638979051, ss3639490775, ss3642927192, ss3847431532	NC_000011.8:111604619:T:C	NC_000011.10:112228686:T:C	(self)
55573675, 30845907, 85241, 21855121, 910545, 74485, 2738101, 8609490, 1129225, 13766181, 32784646, 424621, 11830497, 783168, 206840, 14372554, 29167517, 7738239, 61888858, 30845907, 6845766, ss235721423, ss242318764, ss480868874, ss481804625, ss485220538, ss491029312, ss536232329, ss658352605, ss713056905, ss778525951, ss783056216, ss784014474, ss832314120, ss832961171, ss833552000, ss833982424, ss988969476, ss1067528141, ss1078049988, ss1342990361, ss1426762986, ss1575956936, ss1584078024, ss1627475163, ss1670469196, ss1690634383, ss1711308861, ss1751994625, ss1932330624, ss1967460120, ss2026909311, ss2095026243, ss2155221885, ss2627929192, ss2632888013, ss2699531238, ss2739390823, ss2748740348, ss2904532001, ss2984957385, ss2985598759, ss3008790493, ss3349797837, ss3626751182, ss3630901965, ss3632999549, ss3633699511, ss3634475553, ss3635390792, ss3636159853, ss3637141695, ss3637930741, ss3640182889, ss3641020920, ss3641315457, ss3646432809, ss3651743983, ss3653729483, ss3676116873, ss3738545632, ss3744776329, ss3749818708, ss3772276094, ss3824671690, ss3825809439, ss3832842271, ss3839983087, ss3877150537, ss3925607252, ss3984013548, ss3984657355, ss3985557241, ss3986545383, ss4017559321, ss5203919551, ss5315577126, ss5402282896, ss5624025582, ss5652085591, ss5799854469, ss5800171859, ss5837237784, ss5848337180, ss5936550511, ss5943414104	NC_000011.9:112099409:T:C	NC_000011.10:112228686:T:C	(self)
RCV000298411.9, RCV001712010.1, 72946839, 392156978, 700271, 27137551, 86212900, 115750021, 14978838717, ss2185758623, ss3027255128, ss3649706629, ss3692611197, ss3815150175, ss3845464769, ss3970759550, ss4900204365, ss5237216654, ss5288924544, ss5314433285, ss5483910531, ss5585420904, ss5752375796, ss5812782232, ss5850153530, ss5921681964	NC_000011.10:112228686:T:C	NC_000011.10:112228686:T:C	(self)
ss10649954	NT_033899.5:15643076:T:C	NC_000011.10:112228686:T:C	(self)
ss15806029	NT_033899.6:15643193:T:C	NC_000011.10:112228686:T:C	(self)
ss5005746, ss38755615, ss66682011, ss67306536, ss67711737, ss69328927, ss70785182, ss71361920, ss75608477, ss79169707, ss80746233, ss84198025, ss97511915, ss103001269, ss122237455, ss154272886, ss156798281, ss159449617, ss171680938, ss173654078	NT_033899.8:15661825:T:C	NC_000011.10:112228686:T:C	(self)

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

1 citation for rs3819331

PMID	Title	Author	Year	Journal
19674121	Examination of tetrahydrobiopterin pathway genes in autism.	Schnetz-Boutaud NC et al.	2009	Genes, brain, and behavior

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs3819331