Name: rs1554014
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.

rs1554014

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:76012381 (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>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.039046 (10335/264690, TOPMED)
A=0.053683 (10422/194138, ALFA)
A=0.042770 (5997/140216, GnomAD) (+ 19 more)
A=0.01931 (1520/78702, PAGE_STUDY)
A=0.00004 (1/28256, 14KJPN)
A=0.0212 (136/6404, 1000G_30x)
A=0.0206 (103/5008, 1000G)
A=0.0480 (215/4480, Estonian)
A=0.0628 (242/3854, ALSPAC)
A=0.0666 (247/3708, TWINSUK)
A=0.0235 (49/2084, HGDP_Stanford)
A=0.0311 (45/1448, HapMap)
A=0.0471 (53/1126, Daghestan)
A=0.062 (62/998, GoNL)
A=0.055 (33/600, NorthernSweden)
A=0.051 (11/216, Qatari)
A=0.05 (2/44, Ancient Sardinia)
A=0.07 (3/40, GENOME_DK)
G=0.50 (16/32, SGDP_PRJ)
A=0.50 (16/32, SGDP_PRJ)
G=0.5 (1/2, Siberian)
A=0.5 (1/2, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ART3 : Intron Variant
Publications: 0 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	194138	G=0.946317	A=0.053683, T=0.000000
European	Sub	166576	G=0.941738	A=0.058262, T=0.000000
African	Sub	7298	G=0.9919	A=0.0081, T=0.0000
African Others	Sub	264	G=0.996	A=0.004, T=0.000
African American	Sub	7034	G=0.9918	A=0.0082, T=0.0000
Asian	Sub	738	G=0.999	A=0.001, T=0.000
East Asian	Sub	592	G=1.000	A=0.000, T=0.000
Other Asian	Sub	146	G=0.993	A=0.007, T=0.000
Latin American 1	Sub	828	G=0.966	A=0.034, T=0.000
Latin American 2	Sub	6850	G=0.9766	A=0.0234, T=0.0000
South Asian	Sub	5044	G=0.9665	A=0.0335, T=0.0000
Other	Sub	6804	G=0.9559	A=0.0441, T=0.0000

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	G=0.960954	A=0.039046
Allele Frequency Aggregator	Total	Global	194138	G=0.946317	A=0.053683, T=0.000000
Allele Frequency Aggregator	European	Sub	166576	G=0.941738	A=0.058262, T=0.000000
Allele Frequency Aggregator	African	Sub	7298	G=0.9919	A=0.0081, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	6850	G=0.9766	A=0.0234, T=0.0000
Allele Frequency Aggregator	Other	Sub	6804	G=0.9559	A=0.0441, T=0.0000
Allele Frequency Aggregator	South Asian	Sub	5044	G=0.9665	A=0.0335, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	828	G=0.966	A=0.034, T=0.000
Allele Frequency Aggregator	Asian	Sub	738	G=0.999	A=0.001, T=0.000
gnomAD - Genomes	Global	Study-wide	140216	G=0.957230	A=0.042770
gnomAD - Genomes	European	Sub	75936	G=0.93705	A=0.06295
gnomAD - Genomes	African	Sub	42016	G=0.98750	A=0.01250
gnomAD - Genomes	American	Sub	13658	G=0.96010	A=0.03990
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=0.9856	A=0.0144
gnomAD - Genomes	East Asian	Sub	3132	G=0.9997	A=0.0003
gnomAD - Genomes	Other	Sub	2152	G=0.9545	A=0.0455
The PAGE Study	Global	Study-wide	78702	G=0.98069	A=0.01931
The PAGE Study	AfricanAmerican	Sub	32516	G=0.98595	A=0.01405
The PAGE Study	Mexican	Sub	10810	G=0.97354	A=0.02646
The PAGE Study	Asian	Sub	8318	G=0.9993	A=0.0007
The PAGE Study	PuertoRican	Sub	7918	G=0.9706	A=0.0294
The PAGE Study	NativeHawaiian	Sub	4534	G=0.9868	A=0.0132
The PAGE Study	Cuban	Sub	4230	G=0.9577	A=0.0423
The PAGE Study	Dominican	Sub	3828	G=0.9697	A=0.0303
The PAGE Study	CentralAmerican	Sub	2450	G=0.9792	A=0.0208
The PAGE Study	SouthAmerican	Sub	1982	G=0.9738	A=0.0262
The PAGE Study	NativeAmerican	Sub	1260	G=0.9516	A=0.0484
The PAGE Study	SouthAsian	Sub	856	G=0.978	A=0.022
14KJPN	JAPANESE	Study-wide	28256	G=0.99996	A=0.00004
1000Genomes_30x	Global	Study-wide	6404	G=0.9788	A=0.0212
1000Genomes_30x	African	Sub	1786	G=0.9966	A=0.0034
1000Genomes_30x	Europe	Sub	1266	G=0.9400	A=0.0600
1000Genomes_30x	South Asian	Sub	1202	G=0.9809	A=0.0191
1000Genomes_30x	East Asian	Sub	1170	G=1.0000	A=0.0000
1000Genomes_30x	American	Sub	980	G=0.968	A=0.032
1000Genomes	Global	Study-wide	5008	G=0.9794	A=0.0206
1000Genomes	African	Sub	1322	G=0.9962	A=0.0038
1000Genomes	East Asian	Sub	1008	G=1.0000	A=0.0000
1000Genomes	Europe	Sub	1006	G=0.9414	A=0.0586
1000Genomes	South Asian	Sub	978	G=0.980	A=0.020
1000Genomes	American	Sub	694	G=0.973	A=0.027
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.9520	A=0.0480
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.9372	A=0.0628
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.9334	A=0.0666
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	G=0.9765	A=0.0235
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	G=1.000	A=0.000
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	G=0.964	A=0.036
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	G=0.954	A=0.046
HGDP-CEPH-db Supplement 1	Europe	Sub	320	G=0.944	A=0.056
HGDP-CEPH-db Supplement 1	Africa	Sub	242	G=1.000	A=0.000
HGDP-CEPH-db Supplement 1	America	Sub	216	G=1.000	A=0.000
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	G=1.00	A=0.00
HapMap	Global	Study-wide	1448	G=0.9689	A=0.0311
HapMap	American	Sub	600	G=0.947	A=0.053
HapMap	African	Sub	582	G=0.986	A=0.014
HapMap	Europe	Sub	176	G=0.972	A=0.028
HapMap	Asian	Sub	90	G=1.00	A=0.00
Genome-wide autozygosity in Daghestan	Global	Study-wide	1126	G=0.9529	A=0.0471
Genome-wide autozygosity in Daghestan	Daghestan	Sub	622	G=0.957	A=0.043
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	G=0.944	A=0.056
Genome-wide autozygosity in Daghestan	Central Asia	Sub	120	G=0.975	A=0.025
Genome-wide autozygosity in Daghestan	Europe	Sub	108	G=0.926	A=0.074
Genome-wide autozygosity in Daghestan	South Asian	Sub	96	G=0.96	A=0.04
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	G=0.92	A=0.08
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.938	A=0.062
Northern Sweden	ACPOP	Study-wide	600	G=0.945	A=0.055
Qatari	Global	Study-wide	216	G=0.949	A=0.051
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	44	G=0.95	A=0.05
The Danish reference pan genome	Danish	Study-wide	40	G=0.93	A=0.07
SGDP_PRJ	Global	Study-wide	32	G=0.50	A=0.50
Siberian	Global	Study-wide	2	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 4	NC_000004.12:g.76012381G>A
GRCh38.p14 chr 4	NC_000004.12:g.76012381G>T
GRCh37.p13 chr 4	NC_000004.11:g.76933534G>A
GRCh37.p13 chr 4	NC_000004.11:g.76933534G>T

Gene: ART3, ADP-ribosyltransferase 3 (inactive) (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ART3 transcript variant 3	NM_001130017.3:c.-10+1061… NM_001130017.3:c.-10+1061G>A	N/A	Intron Variant
ART3 transcript variant 8	NM_001377177.1:c.-10+1061… NM_001377177.1:c.-10+1061G>A	N/A	Intron Variant
ART3 transcript variant 12	NM_001377181.1:c.-10+1061… NM_001377181.1:c.-10+1061G>A	N/A	Intron Variant
ART3 transcript variant 14	NM_001377183.1:c.-10+1061… NM_001377183.1:c.-10+1061G>A	N/A	Intron Variant
ART3 transcript variant 1	NM_001130016.3:c.	N/A	Genic Upstream Transcript Variant
ART3 transcript variant 2	NM_001179.6:c.	N/A	Genic Upstream Transcript Variant
ART3 transcript variant 4	NM_001377173.1:c.	N/A	Genic Upstream Transcript Variant
ART3 transcript variant 5	NM_001377174.1:c.	N/A	Genic Upstream Transcript Variant
ART3 transcript variant 6	NM_001377175.1:c.	N/A	Genic Upstream Transcript Variant
ART3 transcript variant 7	NM_001377176.1:c.	N/A	Genic Upstream Transcript Variant
ART3 transcript variant 9	NM_001377178.1:c.	N/A	Genic Upstream Transcript Variant
ART3 transcript variant 10	NM_001377179.1:c.	N/A	Genic Upstream Transcript Variant
ART3 transcript variant 11	NM_001377180.1:c.	N/A	Genic Upstream Transcript Variant
ART3 transcript variant 13	NM_001377182.1:c.	N/A	Genic Upstream Transcript Variant
ART3 transcript variant 15	NM_001377184.1:c.	N/A	Genic Upstream Transcript Variant
ART3 transcript variant 16	NM_001377185.1:c.	N/A	Genic Upstream Transcript Variant
ART3 transcript variant X3	XM_017008206.3:c.-44+1061… XM_017008206.3:c.-44+1061G>A	N/A	Intron Variant
ART3 transcript variant X1	XM_024454051.2:c.-10+1061… XM_024454051.2:c.-10+1061G>A	N/A	Intron Variant
ART3 transcript variant X2	XM_024454052.2:c.-125+106… XM_024454052.2:c.-125+1061G>A	N/A	Intron Variant
ART3 transcript variant X5	XM_024454053.2:c.-136+106… XM_024454053.2:c.-136+1061G>A	N/A	Intron Variant
ART3 transcript variant X18	XM_024454063.2:c.-10+1061… XM_024454063.2:c.-10+1061G>A	N/A	Intron Variant
ART3 transcript variant X8	XM_047415695.1:c.-214+106… XM_047415695.1:c.-214+1061G>A	N/A	Intron Variant
ART3 transcript variant X11	XM_047415696.1:c.-214+106… XM_047415696.1:c.-214+1061G>A	N/A	Intron Variant
ART3 transcript variant X12	XM_047415697.1:c.-225+106… XM_047415697.1:c.-225+1061G>A	N/A	Intron Variant
ART3 transcript variant X13	XM_047415698.1:c.-44+1061… XM_047415698.1:c.-44+1061G>A	N/A	Intron Variant
ART3 transcript variant X16	XM_047415699.1:c.-214+106… XM_047415699.1:c.-214+1061G>A	N/A	Intron Variant
ART3 transcript variant X17	XM_047415700.1:c.-225+106… XM_047415700.1:c.-225+1061G>A	N/A	Intron Variant
ART3 transcript variant X4	XM_024454050.2:c.	N/A	Genic Upstream Transcript Variant
ART3 transcript variant X6	XM_024454054.2:c.	N/A	Genic Upstream Transcript Variant
ART3 transcript variant X7	XM_024454056.2:c.	N/A	Genic Upstream Transcript Variant
ART3 transcript variant X9	XM_024454058.2:c.	N/A	Genic Upstream Transcript Variant
ART3 transcript variant X10	XM_024454059.2:c.	N/A	Genic Upstream Transcript Variant
ART3 transcript variant X14	XM_024454061.2:c.	N/A	Genic Upstream Transcript Variant
ART3 transcript variant X15	XM_024454062.2: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	G=	A	T
GRCh38.p14 chr 4	NC_000004.12:g.76012381=	NC_000004.12:g.76012381G>A	NC_000004.12:g.76012381G>T
GRCh37.p13 chr 4	NC_000004.11:g.76933534=	NC_000004.11:g.76933534G>A	NC_000004.11:g.76933534G>T
ART3 transcript variant 3	NM_001130017.2:c.-10+1061=	NM_001130017.2:c.-10+1061G>A	NM_001130017.2:c.-10+1061G>T
ART3 transcript variant 3	NM_001130017.3:c.-10+1061=	NM_001130017.3:c.-10+1061G>A	NM_001130017.3:c.-10+1061G>T
ART3 transcript variant 8	NM_001377177.1:c.-10+1061=	NM_001377177.1:c.-10+1061G>A	NM_001377177.1:c.-10+1061G>T
ART3 transcript variant 12	NM_001377181.1:c.-10+1061=	NM_001377181.1:c.-10+1061G>A	NM_001377181.1:c.-10+1061G>T
ART3 transcript variant 14	NM_001377183.1:c.-10+1061=	NM_001377183.1:c.-10+1061G>A	NM_001377183.1:c.-10+1061G>T
ART3 transcript variant X3	XM_017008206.3:c.-44+1061=	XM_017008206.3:c.-44+1061G>A	XM_017008206.3:c.-44+1061G>T
ART3 transcript variant X1	XM_024454051.2:c.-10+1061=	XM_024454051.2:c.-10+1061G>A	XM_024454051.2:c.-10+1061G>T
ART3 transcript variant X2	XM_024454052.2:c.-125+1061=	XM_024454052.2:c.-125+1061G>A	XM_024454052.2:c.-125+1061G>T
ART3 transcript variant X5	XM_024454053.2:c.-136+1061=	XM_024454053.2:c.-136+1061G>A	XM_024454053.2:c.-136+1061G>T
ART3 transcript variant X18	XM_024454063.2:c.-10+1061=	XM_024454063.2:c.-10+1061G>A	XM_024454063.2:c.-10+1061G>T
ART3 transcript variant X8	XM_047415695.1:c.-214+1061=	XM_047415695.1:c.-214+1061G>A	XM_047415695.1:c.-214+1061G>T
ART3 transcript variant X11	XM_047415696.1:c.-214+1061=	XM_047415696.1:c.-214+1061G>A	XM_047415696.1:c.-214+1061G>T
ART3 transcript variant X12	XM_047415697.1:c.-225+1061=	XM_047415697.1:c.-225+1061G>A	XM_047415697.1:c.-225+1061G>T
ART3 transcript variant X13	XM_047415698.1:c.-44+1061=	XM_047415698.1:c.-44+1061G>A	XM_047415698.1:c.-44+1061G>T
ART3 transcript variant X16	XM_047415699.1:c.-214+1061=	XM_047415699.1:c.-214+1061G>A	XM_047415699.1:c.-214+1061G>T
ART3 transcript variant X17	XM_047415700.1:c.-225+1061=	XM_047415700.1:c.-225+1061G>A	XM_047415700.1:c.-225+1061G>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#.

90 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss2397130	Oct 23, 2000 (88)
2	ILLUMINA	ss67132371	Dec 01, 2006 (127)
3	ILLUMINA	ss67472120	Dec 01, 2006 (127)
4	ILLUMINA	ss68158906	Dec 12, 2006 (127)
5	PERLEGEN	ss68902372	May 17, 2007 (127)
6	ILLUMINA	ss70632134	May 25, 2008 (130)
7	ILLUMINA	ss71182256	May 17, 2007 (127)
8	ILLUMINA	ss75645867	Dec 06, 2007 (129)
9	KRIBB_YJKIM	ss83832707	Dec 15, 2007 (130)
10	1000GENOMES	ss108058708	Jan 22, 2009 (130)
11	ILLUMINA	ss153511898	Dec 01, 2009 (131)
12	ILLUMINA	ss159284379	Dec 01, 2009 (131)
13	ILLUMINA	ss160371775	Dec 01, 2009 (131)
14	COMPLETE_GENOMICS	ss166770624	Jul 04, 2010 (132)
15	ILLUMINA	ss172577048	Jul 04, 2010 (132)
16	1000GENOMES	ss232451903	Jul 14, 2010 (132)
17	ILLUMINA	ss480031305	May 04, 2012 (137)
18	ILLUMINA	ss480040037	May 04, 2012 (137)
19	ILLUMINA	ss480704496	Sep 08, 2015 (146)
20	ILLUMINA	ss484813780	May 04, 2012 (137)
21	ILLUMINA	ss536893198	Sep 08, 2015 (146)
22	TISHKOFF	ss557612459	Apr 25, 2013 (138)
23	ILLUMINA	ss778438421	Sep 08, 2015 (146)
24	ILLUMINA	ss782853443	Sep 08, 2015 (146)
25	ILLUMINA	ss783817931	Sep 08, 2015 (146)
26	ILLUMINA	ss832107352	Sep 08, 2015 (146)
27	ILLUMINA	ss832796509	Jul 13, 2019 (153)
28	ILLUMINA	ss833893938	Sep 08, 2015 (146)
29	EVA-GONL	ss980273785	Aug 21, 2014 (142)
30	JMKIDD_LAB	ss1071658138	Aug 21, 2014 (142)
31	1000GENOMES	ss1310338180	Aug 21, 2014 (142)
32	HAMMER_LAB	ss1397379241	Sep 08, 2015 (146)
33	DDI	ss1429931240	Apr 01, 2015 (144)
34	EVA_GENOME_DK	ss1580620763	Apr 01, 2015 (144)
35	EVA_DECODE	ss1589773114	Apr 01, 2015 (144)
36	EVA_UK10K_ALSPAC	ss1610390863	Apr 01, 2015 (144)
37	EVA_UK10K_TWINSUK	ss1653384896	Apr 01, 2015 (144)
38	EVA_SVP	ss1712682086	Apr 01, 2015 (144)
39	ILLUMINA	ss1752532036	Sep 08, 2015 (146)
40	WEILL_CORNELL_DGM	ss1923516401	Feb 12, 2016 (147)
41	ILLUMINA	ss1958694628	Feb 12, 2016 (147)
42	JJLAB	ss2022343932	Sep 14, 2016 (149)
43	ILLUMINA	ss2095145009	Dec 20, 2016 (150)
44	USC_VALOUEV	ss2150472269	Dec 20, 2016 (150)
45	HUMAN_LONGEVITY	ss2264073617	Dec 20, 2016 (150)
46	ILLUMINA	ss2634136037	Nov 08, 2017 (151)
47	GNOMAD	ss2811008886	Nov 08, 2017 (151)
48	SWEGEN	ss2994945439	Nov 08, 2017 (151)
49	ILLUMINA	ss3022385400	Nov 08, 2017 (151)
50	ILLUMINA	ss3628993438	Oct 12, 2018 (152)
51	ILLUMINA	ss3632071481	Oct 12, 2018 (152)
52	ILLUMINA	ss3633338679	Oct 12, 2018 (152)
53	ILLUMINA	ss3634057805	Oct 12, 2018 (152)
54	ILLUMINA	ss3634957205	Oct 12, 2018 (152)
55	ILLUMINA	ss3635740642	Oct 12, 2018 (152)
56	ILLUMINA	ss3636660926	Oct 12, 2018 (152)
57	ILLUMINA	ss3637493163	Oct 12, 2018 (152)
58	ILLUMINA	ss3638493410	Oct 12, 2018 (152)
59	ILLUMINA	ss3639249318	Oct 12, 2018 (152)
60	ILLUMINA	ss3639923457	Oct 12, 2018 (152)
61	ILLUMINA	ss3640664499	Oct 12, 2018 (152)
62	ILLUMINA	ss3643444181	Oct 12, 2018 (152)
63	ILLUMINA	ss3643969632	Oct 12, 2018 (152)
64	ILLUMINA	ss3652870584	Oct 12, 2018 (152)
65	EGCUT_WGS	ss3662828695	Jul 13, 2019 (153)
66	EVA_DECODE	ss3712340663	Jul 13, 2019 (153)
67	ILLUMINA	ss3726143720	Jul 13, 2019 (153)
68	ACPOP	ss3731281726	Jul 13, 2019 (153)
69	ILLUMINA	ss3745257471	Jul 13, 2019 (153)
70	EVA	ss3761977899	Jul 13, 2019 (153)
71	PAGE_CC	ss3771132784	Jul 13, 2019 (153)
72	ILLUMINA	ss3772752072	Jul 13, 2019 (153)
73	KHV_HUMAN_GENOMES	ss3805119308	Jul 13, 2019 (153)
74	EVA	ss3828619708	Apr 26, 2020 (154)
75	HGDP	ss3847754176	Apr 26, 2020 (154)
76	SGDP_PRJ	ss3859271221	Apr 26, 2020 (154)
77	EVA	ss3985076586	Apr 26, 2021 (155)
78	EVA	ss4017151988	Apr 26, 2021 (155)
79	TOPMED	ss4618984928	Apr 26, 2021 (155)
80	1000G_HIGH_COVERAGE	ss5259725489	Oct 17, 2022 (156)
81	EVA	ss5349951288	Oct 17, 2022 (156)
82	HUGCELL_USP	ss5458426815	Oct 17, 2022 (156)
83	EVA	ss5507575608	Oct 17, 2022 (156)
84	1000G_HIGH_COVERAGE	ss5541091700	Oct 17, 2022 (156)
85	SANFORD_IMAGENETICS	ss5635339318	Oct 17, 2022 (156)
86	TOMMO_GENOMICS	ss5700903005	Oct 17, 2022 (156)
87	EVA	ss5799618286	Oct 17, 2022 (156)
88	EVA	ss5844199870	Oct 17, 2022 (156)
89	EVA	ss5864035295	Oct 17, 2022 (156)
90	EVA	ss5963716808	Oct 17, 2022 (156)
91	1000Genomes	NC_000004.11 - 76933534	Oct 12, 2018 (152)
92	1000Genomes_30x	NC_000004.12 - 76012381	Oct 17, 2022 (156)
93	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 76933534	Oct 12, 2018 (152)
94	Genome-wide autozygosity in Daghestan	NC_000004.10 - 77152558	Apr 26, 2020 (154)
95	Genetic variation in the Estonian population	NC_000004.11 - 76933534	Oct 12, 2018 (152)
96	The Danish reference pan genome	NC_000004.11 - 76933534	Apr 26, 2020 (154)
97	gnomAD - Genomes	NC_000004.12 - 76012381	Apr 26, 2021 (155)
98	Genome of the Netherlands Release 5	NC_000004.11 - 76933534	Apr 26, 2020 (154)
99	HGDP-CEPH-db Supplement 1	NC_000004.10 - 77152558	Apr 26, 2020 (154)
100	HapMap	NC_000004.12 - 76012381	Apr 26, 2020 (154)
101	Northern Sweden	NC_000004.11 - 76933534	Jul 13, 2019 (153)
102	The PAGE Study	NC_000004.12 - 76012381	Jul 13, 2019 (153)
103	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000004.11 - 76933534	Apr 26, 2021 (155)
104	Qatari	NC_000004.11 - 76933534	Apr 26, 2020 (154)
105	SGDP_PRJ	NC_000004.11 - 76933534	Apr 26, 2020 (154)
106	Siberian	NC_000004.11 - 76933534	Apr 26, 2020 (154)
107	14KJPN	NC_000004.12 - 76012381	Oct 17, 2022 (156)
108	TopMed	NC_000004.12 - 76012381	Apr 26, 2021 (155)
109	UK 10K study - Twins	NC_000004.11 - 76933534	Oct 12, 2018 (152)
110	ALFA	NC_000004.12 - 76012381	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)
rs59029638	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3639249318, ss3639923457, ss3643969632	NC_000004.9:77290712:G:A	NC_000004.12:76012380:G:A	(self)
354703, 432068, ss108058708, ss166770624, ss480031305, ss1397379241, ss1589773114, ss1712682086, ss3643444181, ss3847754176	NC_000004.10:77152557:G:A	NC_000004.12:76012380:G:A	(self)
21755103, 12093099, 8566943, 6785702, 5341493, 4566591, 302513, 5558331, 11288201, 2988623, 12093099, ss232451903, ss480040037, ss480704496, ss484813780, ss536893198, ss557612459, ss778438421, ss782853443, ss783817931, ss832107352, ss832796509, ss833893938, ss980273785, ss1071658138, ss1310338180, ss1429931240, ss1580620763, ss1610390863, ss1653384896, ss1752532036, ss1923516401, ss1958694628, ss2022343932, ss2095145009, ss2150472269, ss2634136037, ss2811008886, ss2994945439, ss3022385400, ss3628993438, ss3632071481, ss3633338679, ss3634057805, ss3634957205, ss3635740642, ss3636660926, ss3637493163, ss3638493410, ss3640664499, ss3652870584, ss3662828695, ss3731281726, ss3745257471, ss3761977899, ss3772752072, ss3828619708, ss3859271221, ss3985076586, ss4017151988, ss5349951288, ss5507575608, ss5635339318, ss5799618286, ss5844199870, ss5963716808	NC_000004.11:76933533:G:A	NC_000004.12:76012380:G:A	(self)
28617635, 154113374, 2640770, 354253, 34740109, 456362484, 3900557040, ss2264073617, ss3712340663, ss3726143720, ss3771132784, ss3805119308, ss4618984928, ss5259725489, ss5458426815, ss5541091700, ss5700903005, ss5864035295	NC_000004.12:76012380:G:A	NC_000004.12:76012380:G:A	(self)
ss2397130, ss67132371, ss67472120, ss68158906, ss68902372, ss70632134, ss71182256, ss75645867, ss83832707, ss153511898, ss159284379, ss160371775, ss172577048	NT_016354.19:1481254:G:A	NC_000004.12:76012380:G:A	(self)
3900557040	NC_000004.12:76012380:G:T	NC_000004.12:76012380:G:T	(self)

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

No publications for rs1554014

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

rs1554014