Name: rs4241779
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.

rs4241779

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:183679448 (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: A>C / A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.434197 (117003/269470, ALFA)
G=0.498757 (132016/264690, TOPMED)
G=0.447299 (111355/248950, GnomAD_exome) (+ 25 more)
G=0.499893 (69986/140002, GnomAD)
G=0.445110 (53991/121298, ExAC)
A=0.46127 (36302/78700, PAGE_STUDY)
A=0.49310 (13934/28258, 14KJPN)
A=0.49409 (8281/16760, 8.3KJPN)
G=0.49616 (6453/13006, GO-ESP)
G=0.4900 (3138/6404, 1000G_30x)
G=0.4856 (2432/5008, 1000G)
G=0.4583 (2053/4480, Estonian)
G=0.4263 (1643/3854, ALSPAC)
G=0.4442 (1647/3708, TWINSUK)
G=0.4983 (1460/2930, KOREAN)
A=0.4947 (1031/2084, HGDP_Stanford)
G=0.4874 (893/1832, Korea1K)
G=0.435 (434/998, GoNL)
G=0.487 (384/788, PRJEB37584)
A=0.444 (271/610, Vietnamese)
G=0.442 (265/600, NorthernSweden)
G=0.395 (211/534, MGP)
A=0.321 (129/402, SGDP_PRJ)
G=0.464 (141/304, FINRISK)
G=0.426 (92/216, Qatari)
G=0.21 (14/66, Ancient Sardinia)
G=0.47 (19/40, GENOME_DK)
A=0.39 (15/38, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: TRAPPC11 : Synonymous 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	269686	A=0.565817	G=0.434183
European	Sub	230554	A=0.572113	G=0.427887
African	Sub	6574	A=0.3949	G=0.6051
African Others	Sub	242	A=0.364	G=0.636
African American	Sub	6332	A=0.3961	G=0.6039
Asian	Sub	6430	A=0.4677	G=0.5323
East Asian	Sub	4566	A=0.4818	G=0.5182
Other Asian	Sub	1864	A=0.4329	G=0.5671
Latin American 1	Sub	916	A=0.546	G=0.454
Latin American 2	Sub	1674	A=0.5090	G=0.4910
South Asian	Sub	5152	A=0.6764	G=0.3236
Other	Sub	18386	A=0.55749	G=0.44251

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
Allele Frequency Aggregator	Total	Global	269470	A=0.565803	G=0.434197
Allele Frequency Aggregator	European	Sub	230374	A=0.572100	G=0.427900
Allele Frequency Aggregator	Other	Sub	18364	A=0.55729	G=0.44271
Allele Frequency Aggregator	African	Sub	6560	A=0.3951	G=0.6049
Allele Frequency Aggregator	Asian	Sub	6430	A=0.4677	G=0.5323
Allele Frequency Aggregator	South Asian	Sub	5152	A=0.6764	G=0.3236
Allele Frequency Aggregator	Latin American 2	Sub	1674	A=0.5090	G=0.4910
Allele Frequency Aggregator	Latin American 1	Sub	916	A=0.546	G=0.454
TopMed	Global	Study-wide	264690	A=0.501243	G=0.498757
gnomAD - Exomes	Global	Study-wide	248950	A=0.552701	G=0.447299
gnomAD - Exomes	European	Sub	134422	A=0.567035	G=0.432965
gnomAD - Exomes	Asian	Sub	48450	A=0.61463	G=0.38537
gnomAD - Exomes	American	Sub	33900	A=0.48268	G=0.51732
gnomAD - Exomes	African	Sub	16130	A=0.37880	G=0.62120
gnomAD - Exomes	Ashkenazi Jewish	Sub	9998	A=0.5704	G=0.4296
gnomAD - Exomes	Other	Sub	6050	A=0.5650	G=0.4350
gnomAD - Genomes	Global	Study-wide	140002	A=0.500107	G=0.499893
gnomAD - Genomes	European	Sub	75834	A=0.56032	G=0.43968
gnomAD - Genomes	African	Sub	41958	A=0.38043	G=0.61957
gnomAD - Genomes	American	Sub	13622	A=0.51542	G=0.48458
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	A=0.5758	G=0.4242
gnomAD - Genomes	East Asian	Sub	3120	A=0.4721	G=0.5279
gnomAD - Genomes	Other	Sub	2144	A=0.5387	G=0.4613
ExAC	Global	Study-wide	121298	A=0.554890	G=0.445110
ExAC	Europe	Sub	73286	A=0.56978	G=0.43022
ExAC	Asian	Sub	25138	A=0.62268	G=0.37732
ExAC	American	Sub	11568	A=0.47346	G=0.52654
ExAC	African	Sub	10400	A=0.37625	G=0.62375
ExAC	Other	Sub	906	A=0.560	G=0.440
The PAGE Study	Global	Study-wide	78700	A=0.46127	G=0.53873
The PAGE Study	AfricanAmerican	Sub	32514	A=0.38817	G=0.61183
The PAGE Study	Mexican	Sub	10810	A=0.49769	G=0.50231
The PAGE Study	Asian	Sub	8318	A=0.4925	G=0.5075
The PAGE Study	PuertoRican	Sub	7918	A=0.5506	G=0.4494
The PAGE Study	NativeHawaiian	Sub	4534	A=0.4914	G=0.5086
The PAGE Study	Cuban	Sub	4230	A=0.5726	G=0.4274
The PAGE Study	Dominican	Sub	3828	A=0.4888	G=0.5112
The PAGE Study	CentralAmerican	Sub	2450	A=0.4633	G=0.5367
The PAGE Study	SouthAmerican	Sub	1982	A=0.4899	G=0.5101
The PAGE Study	NativeAmerican	Sub	1260	A=0.5016	G=0.4984
The PAGE Study	SouthAsian	Sub	856	A=0.683	G=0.317
14KJPN	JAPANESE	Study-wide	28258	A=0.49310	G=0.50690
8.3KJPN	JAPANESE	Study-wide	16760	A=0.49409	G=0.50591
GO Exome Sequencing Project	Global	Study-wide	13006	A=0.50384	G=0.49616
GO Exome Sequencing Project	European American	Sub	8600	A=0.5692	G=0.4308
GO Exome Sequencing Project	African American	Sub	4406	A=0.3763	G=0.6237
1000Genomes_30x	Global	Study-wide	6404	A=0.5100	G=0.4900
1000Genomes_30x	African	Sub	1786	A=0.3505	G=0.6495
1000Genomes_30x	Europe	Sub	1266	A=0.6209	G=0.3791
1000Genomes_30x	South Asian	Sub	1202	A=0.7038	G=0.2962
1000Genomes_30x	East Asian	Sub	1170	A=0.4667	G=0.5333
1000Genomes_30x	American	Sub	980	A=0.471	G=0.529
1000Genomes	Global	Study-wide	5008	A=0.5144	G=0.4856
1000Genomes	African	Sub	1322	A=0.3533	G=0.6467
1000Genomes	East Asian	Sub	1008	A=0.4663	G=0.5337
1000Genomes	Europe	Sub	1006	A=0.6093	G=0.3907
1000Genomes	South Asian	Sub	978	A=0.708	G=0.292
1000Genomes	American	Sub	694	A=0.481	G=0.519
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.5417	G=0.4583
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.5737	G=0.4263
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.5558	G=0.4442
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.5017	C=0.0000, G=0.4983, T=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	A=0.4947	G=0.5053
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.455	G=0.545
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.616	G=0.384
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.603	G=0.397
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.588	G=0.412
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.372	G=0.628
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.199	G=0.801
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.42	G=0.58
Korean Genome Project	KOREAN	Study-wide	1832	A=0.5126	G=0.4874
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.565	G=0.435
CNV burdens in cranial meningiomas	Global	Study-wide	788	A=0.513	G=0.487
CNV burdens in cranial meningiomas	CRM	Sub	788	A=0.513	G=0.487
A Vietnamese Genetic Variation Database	Global	Study-wide	610	A=0.444	G=0.556
Northern Sweden	ACPOP	Study-wide	600	A=0.558	G=0.442
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	A=0.605	G=0.395
SGDP_PRJ	Global	Study-wide	402	A=0.321	G=0.679
FINRISK	Finnish from FINRISK project	Study-wide	304	A=0.536	G=0.464
Qatari	Global	Study-wide	216	A=0.574	G=0.426
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	66	A=0.79	G=0.21
The Danish reference pan genome	Danish	Study-wide	40	A=0.53	G=0.47
Siberian	Global	Study-wide	38	A=0.39	G=0.61

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.183679448A>C
GRCh38.p14 chr 4	NC_000004.12:g.183679448A>G
GRCh38.p14 chr 4	NC_000004.12:g.183679448A>T
GRCh37.p13 chr 4	NC_000004.11:g.184600601A>C
GRCh37.p13 chr 4	NC_000004.11:g.184600601A>G
GRCh37.p13 chr 4	NC_000004.11:g.184600601A>T
TRAPPC11 RefSeqGene	NG_033102.1:g.25182A>C
TRAPPC11 RefSeqGene	NG_033102.1:g.25182A>G
TRAPPC11 RefSeqGene	NG_033102.1:g.25182A>T

Gene: TRAPPC11, trafficking protein particle complex subunit 11 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TRAPPC11 transcript variant 1	NM_021942.6:c.927A>C	A [GCA] > A [GCC]	Coding Sequence Variant
trafficking protein particle complex subunit 11 isoform a	NP_068761.4:p.Ala309=	A (Ala) > A (Ala)	Synonymous Variant
TRAPPC11 transcript variant 1	NM_021942.6:c.927A>G	A [GCA] > A [GCG]	Coding Sequence Variant
trafficking protein particle complex subunit 11 isoform a	NP_068761.4:p.Ala309=	A (Ala) > A (Ala)	Synonymous Variant
TRAPPC11 transcript variant 1	NM_021942.6:c.927A>T	A [GCA] > A [GCT]	Coding Sequence Variant
trafficking protein particle complex subunit 11 isoform a	NP_068761.4:p.Ala309=	A (Ala) > A (Ala)	Synonymous Variant
TRAPPC11 transcript variant 2	NM_199053.3:c.927A>C	A [GCA] > A [GCC]	Coding Sequence Variant
trafficking protein particle complex subunit 11 isoform b	NP_951008.1:p.Ala309=	A (Ala) > A (Ala)	Synonymous Variant
TRAPPC11 transcript variant 2	NM_199053.3:c.927A>G	A [GCA] > A [GCG]	Coding Sequence Variant
trafficking protein particle complex subunit 11 isoform b	NP_951008.1:p.Ala309=	A (Ala) > A (Ala)	Synonymous Variant
TRAPPC11 transcript variant 2	NM_199053.3:c.927A>T	A [GCA] > A [GCT]	Coding Sequence Variant
trafficking protein particle complex subunit 11 isoform b	NP_951008.1:p.Ala309=	A (Ala) > A (Ala)	Synonymous Variant
TRAPPC11 transcript variant X1	XM_024454179.2:c.927A>C	A [GCA] > A [GCC]	Coding Sequence Variant
trafficking protein particle complex subunit 11 isoform X1	XP_024309947.1:p.Ala309=	A (Ala) > A (Ala)	Synonymous Variant
TRAPPC11 transcript variant X1	XM_024454179.2:c.927A>G	A [GCA] > A [GCG]	Coding Sequence Variant
trafficking protein particle complex subunit 11 isoform X1	XP_024309947.1:p.Ala309=	A (Ala) > A (Ala)	Synonymous Variant
TRAPPC11 transcript variant X1	XM_024454179.2:c.927A>T	A [GCA] > A [GCT]	Coding Sequence Variant
trafficking protein particle complex subunit 11 isoform X1	XP_024309947.1:p.Ala309=	A (Ala) > A (Ala)	Synonymous Variant
TRAPPC11 transcript variant X2	XM_024454180.2:c.927A>C	A [GCA] > A [GCC]	Coding Sequence Variant
trafficking protein particle complex subunit 11 isoform X1	XP_024309948.1:p.Ala309=	A (Ala) > A (Ala)	Synonymous Variant
TRAPPC11 transcript variant X2	XM_024454180.2:c.927A>G	A [GCA] > A [GCG]	Coding Sequence Variant
trafficking protein particle complex subunit 11 isoform X1	XP_024309948.1:p.Ala309=	A (Ala) > A (Ala)	Synonymous Variant
TRAPPC11 transcript variant X2	XM_024454180.2:c.927A>T	A [GCA] > A [GCT]	Coding Sequence Variant
trafficking protein particle complex subunit 11 isoform X1	XP_024309948.1:p.Ala309=	A (Ala) > A (Ala)	Synonymous Variant
TRAPPC11 transcript variant X3	XM_047416069.1:c.927A>C	A [GCA] > A [GCC]	Coding Sequence Variant
trafficking protein particle complex subunit 11 isoform X2	XP_047272025.1:p.Ala309=	A (Ala) > A (Ala)	Synonymous Variant
TRAPPC11 transcript variant X3	XM_047416069.1:c.927A>G	A [GCA] > A [GCG]	Coding Sequence Variant
trafficking protein particle complex subunit 11 isoform X2	XP_047272025.1:p.Ala309=	A (Ala) > A (Ala)	Synonymous Variant
TRAPPC11 transcript variant X3	XM_047416069.1:c.927A>T	A [GCA] > A [GCT]	Coding Sequence Variant
trafficking protein particle complex subunit 11 isoform X2	XP_047272025.1:p.Ala309=	A (Ala) > A (Ala)	Synonymous 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: G (allele ID: 251417 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000252950.6	not specified	Benign
RCV000829968.2	not provided	Benign
RCV001510410.7	Autosomal recessive limb-girdle muscular dystrophy type R18	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	A=	C	G	T
GRCh38.p14 chr 4	NC_000004.12:g.183679448=	NC_000004.12:g.183679448A>C	NC_000004.12:g.183679448A>G	NC_000004.12:g.183679448A>T
GRCh37.p13 chr 4	NC_000004.11:g.184600601=	NC_000004.11:g.184600601A>C	NC_000004.11:g.184600601A>G	NC_000004.11:g.184600601A>T
TRAPPC11 RefSeqGene	NG_033102.1:g.25182=	NG_033102.1:g.25182A>C	NG_033102.1:g.25182A>G	NG_033102.1:g.25182A>T
TRAPPC11 transcript variant 1	NM_021942.6:c.927=	NM_021942.6:c.927A>C	NM_021942.6:c.927A>G	NM_021942.6:c.927A>T
TRAPPC11 transcript variant 1	NM_021942.5:c.927=	NM_021942.5:c.927A>C	NM_021942.5:c.927A>G	NM_021942.5:c.927A>T
TRAPPC11 transcript variant 2	NM_199053.3:c.927=	NM_199053.3:c.927A>C	NM_199053.3:c.927A>G	NM_199053.3:c.927A>T
TRAPPC11 transcript variant 2	NM_199053.2:c.927=	NM_199053.2:c.927A>C	NM_199053.2:c.927A>G	NM_199053.2:c.927A>T
TRAPPC11 transcript variant X1	XM_024454179.2:c.927=	XM_024454179.2:c.927A>C	XM_024454179.2:c.927A>G	XM_024454179.2:c.927A>T
TRAPPC11 transcript variant X1	XM_024454179.1:c.927=	XM_024454179.1:c.927A>C	XM_024454179.1:c.927A>G	XM_024454179.1:c.927A>T
TRAPPC11 transcript variant X2	XM_024454180.2:c.927=	XM_024454180.2:c.927A>C	XM_024454180.2:c.927A>G	XM_024454180.2:c.927A>T
TRAPPC11 transcript variant X2	XM_024454180.1:c.927=	XM_024454180.1:c.927A>C	XM_024454180.1:c.927A>G	XM_024454180.1:c.927A>T
TRAPPC11 transcript variant X3	XM_047416069.1:c.927=	XM_047416069.1:c.927A>C	XM_047416069.1:c.927A>G	XM_047416069.1:c.927A>T
trafficking protein particle complex subunit 11 isoform a	NP_068761.4:p.Ala309=	NP_068761.4:p.Ala309=	NP_068761.4:p.Ala309=	NP_068761.4:p.Ala309=
trafficking protein particle complex subunit 11 isoform b	NP_951008.1:p.Ala309=	NP_951008.1:p.Ala309=	NP_951008.1:p.Ala309=	NP_951008.1:p.Ala309=
trafficking protein particle complex subunit 11 isoform X1	XP_024309947.1:p.Ala309=	XP_024309947.1:p.Ala309=	XP_024309947.1:p.Ala309=	XP_024309947.1:p.Ala309=
trafficking protein particle complex subunit 11 isoform X1	XP_024309948.1:p.Ala309=	XP_024309948.1:p.Ala309=	XP_024309948.1:p.Ala309=	XP_024309948.1:p.Ala309=
trafficking protein particle complex subunit 11 isoform X2	XP_047272025.1:p.Ala309=	XP_047272025.1:p.Ala309=	XP_047272025.1:p.Ala309=	XP_047272025.1:p.Ala309=

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#.

162 SubSNP, 28 Frequency, 3 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss5617096	Feb 20, 2003 (111)
2	WI_SSAHASNP	ss6717598	Feb 20, 2003 (111)
3	CSHL-HAPMAP	ss17821569	Feb 27, 2004 (120)
4	SSAHASNP	ss22190642	Apr 05, 2004 (121)
5	ABI	ss44509785	Mar 13, 2006 (126)
6	PERLEGEN	ss46542370	Mar 13, 2006 (126)
7	ILLUMINA	ss65718721	Oct 14, 2006 (127)
8	ILLUMINA	ss66780026	Nov 30, 2006 (127)
9	ILLUMINA	ss67320023	Nov 30, 2006 (127)
10	ILLUMINA	ss67724530	Nov 30, 2006 (127)
11	ILLUMINA	ss70796493	May 25, 2008 (130)
12	ILLUMINA	ss71374681	May 17, 2007 (127)
13	ILLUMINA	ss75753980	Dec 06, 2007 (129)
14	ILLUMINA	ss79177183	Dec 15, 2007 (130)
15	KRIBB_YJKIM	ss84236695	Dec 15, 2007 (130)
16	HGSV	ss86198978	Dec 15, 2007 (130)
17	BCMHGSC_JDW	ss92923858	Mar 24, 2008 (129)
18	HUMANGENOME_JCVI	ss99056578	Feb 05, 2009 (130)
19	1000GENOMES	ss108672980	Jan 23, 2009 (130)
20	1000GENOMES	ss111172232	Jan 25, 2009 (130)
21	ILLUMINA	ss120240070	Dec 01, 2009 (131)
22	ILLUMINA	ss122281805	Dec 01, 2009 (131)
23	ENSEMBL	ss134803282	Dec 01, 2009 (131)
24	ENSEMBL	ss142653622	Dec 01, 2009 (131)
25	ILLUMINA	ss154286178	Dec 01, 2009 (131)
26	ILLUMINA	ss159463105	Dec 01, 2009 (131)
27	SEATTLESEQ	ss159708814	Dec 01, 2009 (131)
28	COMPLETE_GENOMICS	ss165325714	Jul 04, 2010 (132)
29	ILLUMINA	ss171756198	Jul 04, 2010 (132)
30	ILLUMINA	ss173700584	Jul 04, 2010 (132)
31	BUSHMAN	ss199656362	Jul 04, 2010 (132)
32	BCM-HGSC-SUB	ss206476135	Jul 04, 2010 (132)
33	1000GENOMES	ss221427346	Jul 14, 2010 (132)
34	1000GENOMES	ss232760255	Jul 14, 2010 (132)
35	1000GENOMES	ss239973178	Jul 15, 2010 (132)
36	ILLUMINA	ss244256878	Jul 04, 2010 (132)
37	GMI	ss278092829	May 04, 2012 (137)
38	PJP	ss293276731	May 09, 2011 (134)
39	NHLBI-ESP	ss342175361	May 09, 2011 (134)
40	ILLUMINA	ss483124404	May 04, 2012 (137)
41	ILLUMINA	ss484772069	May 04, 2012 (137)
42	1000GENOMES	ss490898049	May 04, 2012 (137)
43	EXOME_CHIP	ss491362906	May 04, 2012 (137)
44	CLINSEQ_SNP	ss491862469	May 04, 2012 (137)
45	ILLUMINA	ss535347287	Sep 08, 2015 (146)
46	TISHKOFF	ss558100445	Apr 25, 2013 (138)
47	SSMP	ss651937807	Apr 25, 2013 (138)
48	ILLUMINA	ss779498270	Sep 08, 2015 (146)
49	ILLUMINA	ss780798167	Aug 21, 2014 (142)
50	ILLUMINA	ss782005519	Sep 08, 2015 (146)
51	ILLUMINA	ss783479462	Aug 21, 2014 (142)
52	ILLUMINA	ss825507701	Apr 01, 2015 (144)
53	ILLUMINA	ss832974604	Aug 21, 2014 (142)
54	ILLUMINA	ss833565433	Aug 21, 2014 (142)
55	ILLUMINA	ss834968478	Sep 08, 2015 (146)
56	JMKIDD_LAB	ss974454643	Aug 21, 2014 (142)
57	EVA-GONL	ss981093795	Aug 21, 2014 (142)
58	JMKIDD_LAB	ss1067465647	Aug 21, 2014 (142)
59	JMKIDD_LAB	ss1072276242	Aug 21, 2014 (142)
60	1000GENOMES	ss1313352389	Aug 21, 2014 (142)
61	DDI	ss1430185671	Apr 01, 2015 (144)
62	EVA_GENOME_DK	ss1580946429	Apr 01, 2015 (144)
63	EVA_FINRISK	ss1584037163	Apr 01, 2015 (144)
64	EVA_DECODE	ss1590613699	Apr 01, 2015 (144)
65	EVA_UK10K_ALSPAC	ss1611987113	Apr 01, 2015 (144)
66	EVA_UK10K_TWINSUK	ss1654981146	Apr 01, 2015 (144)
67	EVA_EXAC	ss1687705589	Apr 01, 2015 (144)
68	EVA_MGP	ss1711077230	Apr 01, 2015 (144)
69	EVA_SVP	ss1712732717	Apr 01, 2015 (144)
70	ILLUMINA	ss1752512963	Sep 08, 2015 (146)
71	HAMMER_LAB	ss1802758427	Sep 08, 2015 (146)
72	ILLUMINA	ss1917786723	Feb 12, 2016 (147)
73	WEILL_CORNELL_DGM	ss1924338741	Feb 12, 2016 (147)
74	ILLUMINA	ss1946134679	Feb 12, 2016 (147)
75	ILLUMINA	ss1958748498	Feb 12, 2016 (147)
76	GENOMED	ss1969972533	Jul 19, 2016 (147)
77	JJLAB	ss2022764638	Sep 14, 2016 (149)
78	USC_VALOUEV	ss2150898834	Dec 20, 2016 (150)
79	HUMAN_LONGEVITY	ss2270309918	Dec 20, 2016 (150)
80	SYSTEMSBIOZJU	ss2625875729	Nov 08, 2017 (151)
81	ILLUMINA	ss2634224279	Nov 08, 2017 (151)
82	GRF	ss2706406801	Nov 08, 2017 (151)
83	GNOMAD	ss2734841618	Nov 08, 2017 (151)
84	GNOMAD	ss2747333992	Nov 08, 2017 (151)
85	GNOMAD	ss2819616056	Nov 08, 2017 (151)
86	AFFY	ss2985311239	Nov 08, 2017 (151)
87	SWEGEN	ss2996185045	Nov 08, 2017 (151)
88	ILLUMINA	ss3022447191	Nov 08, 2017 (151)
89	EVA_SAMSUNG_MC	ss3023060958	Nov 08, 2017 (151)
90	BIOINF_KMB_FNS_UNIBA	ss3025162780	Nov 08, 2017 (151)
91	CSHL	ss3346152042	Nov 08, 2017 (151)
92	ILLUMINA	ss3629143886	Oct 12, 2018 (152)
93	ILLUMINA	ss3629143887	Oct 12, 2018 (152)
94	ILLUMINA	ss3632154544	Oct 12, 2018 (152)
95	ILLUMINA	ss3634984312	Oct 12, 2018 (152)
96	ILLUMINA	ss3638530534	Oct 12, 2018 (152)
97	ILLUMINA	ss3639267703	Oct 12, 2018 (152)
98	ILLUMINA	ss3639656344	Oct 12, 2018 (152)
99	ILLUMINA	ss3640691605	Oct 12, 2018 (152)
100	ILLUMINA	ss3643478381	Oct 12, 2018 (152)
101	ILLUMINA	ss3644867542	Oct 12, 2018 (152)
102	OMUKHERJEE_ADBS	ss3646314593	Oct 12, 2018 (152)
103	URBANLAB	ss3647944742	Oct 12, 2018 (152)
104	ILLUMINA	ss3652938648	Oct 12, 2018 (152)
105	ILLUMINA	ss3654083796	Oct 12, 2018 (152)
106	EGCUT_WGS	ss3664105714	Jul 13, 2019 (153)
107	EVA_DECODE	ss3713822964	Jul 13, 2019 (153)
108	ILLUMINA	ss3726199710	Jul 13, 2019 (153)
109	ACPOP	ss3731955266	Jul 13, 2019 (153)
110	ILLUMINA	ss3744532043	Jul 13, 2019 (153)
111	ILLUMINA	ss3745284502	Jul 13, 2019 (153)
112	EVA	ss3762885188	Jul 13, 2019 (153)
113	PAGE_CC	ss3771175684	Jul 13, 2019 (153)
114	ILLUMINA	ss3772778907	Jul 13, 2019 (153)
115	PACBIO	ss3784975878	Jul 13, 2019 (153)
116	PACBIO	ss3790397143	Jul 13, 2019 (153)
117	PACBIO	ss3795272898	Jul 13, 2019 (153)
118	KHV_HUMAN_GENOMES	ss3806053250	Jul 13, 2019 (153)
119	EVA	ss3824060342	Apr 26, 2020 (154)
120	EVA	ss3825522213	Apr 26, 2020 (154)
121	EVA	ss3825667594	Apr 26, 2020 (154)
122	EVA	ss3829015250	Apr 26, 2020 (154)
123	EVA	ss3837963288	Apr 26, 2020 (154)
124	EVA	ss3843405423	Apr 26, 2020 (154)
125	HGDP	ss3847776523	Apr 26, 2020 (154)
126	SGDP_PRJ	ss3860874489	Apr 26, 2020 (154)
127	KRGDB	ss3907259308	Apr 26, 2020 (154)
128	KOGIC	ss3955838916	Apr 26, 2020 (154)
129	FSA-LAB	ss3984298183	Apr 26, 2021 (155)
130	FSA-LAB	ss3984298184	Apr 26, 2021 (155)
131	EVA	ss3984540413	Apr 26, 2021 (155)
132	EVA	ss3985116031	Apr 26, 2021 (155)
133	EVA	ss3986029511	Apr 26, 2021 (155)
134	EVA	ss3986297480	Apr 26, 2021 (155)
135	EVA	ss4017185853	Apr 26, 2021 (155)
136	TOPMED	ss4645251094	Apr 26, 2021 (155)
137	TOMMO_GENOMICS	ss5169734085	Apr 26, 2021 (155)
138	EVA	ss5237010372	Apr 26, 2021 (155)
139	EVA	ss5237184142	Apr 26, 2021 (155)
140	1000G_HIGH_COVERAGE	ss5262376634	Oct 13, 2022 (156)
141	EVA	ss5315018723	Oct 13, 2022 (156)
142	EVA	ss5354751707	Oct 13, 2022 (156)
143	HUGCELL_USP	ss5460789620	Oct 13, 2022 (156)
144	EVA	ss5507874366	Oct 13, 2022 (156)
145	1000G_HIGH_COVERAGE	ss5545194544	Oct 13, 2022 (156)
146	EVA	ss5624144088	Oct 13, 2022 (156)
147	SANFORD_IMAGENETICS	ss5624577481	Oct 13, 2022 (156)
148	SANFORD_IMAGENETICS	ss5636887759	Oct 13, 2022 (156)
149	TOMMO_GENOMICS	ss5705199774	Oct 13, 2022 (156)
150	EVA	ss5799424303	Oct 13, 2022 (156)
151	EVA	ss5800119253	Oct 13, 2022 (156)
152	YY_MCH	ss5805882717	Oct 13, 2022 (156)
153	EVA	ss5845254061	Oct 13, 2022 (156)
154	EVA	ss5847258001	Oct 13, 2022 (156)
155	EVA	ss5848035663	Oct 13, 2022 (156)
156	EVA	ss5848620338	Oct 13, 2022 (156)
157	EVA	ss5854615664	Oct 13, 2022 (156)
158	EVA	ss5867041797	Oct 13, 2022 (156)
159	EVA	ss5936526146	Oct 13, 2022 (156)
160	EVA	ss5965305096	Oct 13, 2022 (156)
161	EVA	ss5979725967	Oct 13, 2022 (156)
162	EVA	ss5980268382	Oct 13, 2022 (156)
163	1000Genomes	NC_000004.11 - 184600601	Oct 12, 2018 (152)
164	1000Genomes_30x	NC_000004.12 - 183679448	Oct 13, 2022 (156)
165	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 184600601	Oct 12, 2018 (152)
166	Genetic variation in the Estonian population	NC_000004.11 - 184600601	Oct 12, 2018 (152)
167	ExAC	NC_000004.11 - 184600601	Oct 12, 2018 (152)
168	FINRISK	NC_000004.11 - 184600601	Apr 26, 2020 (154)
169	The Danish reference pan genome	NC_000004.11 - 184600601	Apr 26, 2020 (154)
170	gnomAD - Genomes	NC_000004.12 - 183679448	Apr 26, 2021 (155)
171	gnomAD - Exomes	NC_000004.11 - 184600601	Jul 13, 2019 (153)
172	GO Exome Sequencing Project	NC_000004.11 - 184600601	Oct 12, 2018 (152)
173	Genome of the Netherlands Release 5	NC_000004.11 - 184600601	Apr 26, 2020 (154)
174	HGDP-CEPH-db Supplement 1	NC_000004.10 - 184837595	Apr 26, 2020 (154)
175	KOREAN population from KRGDB	NC_000004.11 - 184600601	Apr 26, 2020 (154)
176	Korean Genome Project	NC_000004.12 - 183679448	Apr 26, 2020 (154)
177	Medical Genome Project healthy controls from Spanish population	NC_000004.11 - 184600601	Apr 26, 2020 (154)
178	Northern Sweden	NC_000004.11 - 184600601	Jul 13, 2019 (153)
179	The PAGE Study	NC_000004.12 - 183679448	Jul 13, 2019 (153)
180	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000004.11 - 184600601	Apr 26, 2021 (155)
181	CNV burdens in cranial meningiomas	NC_000004.11 - 184600601	Apr 26, 2021 (155)
182	Qatari	NC_000004.11 - 184600601	Apr 26, 2020 (154)
183	SGDP_PRJ	NC_000004.11 - 184600601	Apr 26, 2020 (154)
184	Siberian	NC_000004.11 - 184600601	Apr 26, 2020 (154)
185	8.3KJPN	NC_000004.11 - 184600601	Apr 26, 2021 (155)
186	14KJPN	NC_000004.12 - 183679448	Oct 13, 2022 (156)
187	TopMed	NC_000004.12 - 183679448	Apr 26, 2021 (155)
188	UK 10K study - Twins	NC_000004.11 - 184600601	Oct 12, 2018 (152)
189	A Vietnamese Genetic Variation Database	NC_000004.11 - 184600601	Jul 13, 2019 (153)
190	ALFA	NC_000004.12 - 183679448	Apr 26, 2021 (155)
191	ClinVar	RCV000252950.6	Oct 13, 2022 (156)
192	ClinVar	RCV000829968.2	Oct 13, 2022 (156)
193	ClinVar	RCV001510410.7	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)
rs59034126	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
14436702, ss3907259308	NC_000004.11:184600600:A:C	NC_000004.12:183679447:A:C	(self)
ss86198978, ss3639267703, ss3639656344	NC_000004.9:184975749:A:G	NC_000004.12:183679447:A:G	(self)
454415, ss92923858, ss108672980, ss111172232, ss165325714, ss199656362, ss206476135, ss244256878, ss278092829, ss293276731, ss484772069, ss491862469, ss825507701, ss1590613699, ss1712732717, ss3643478381, ss3847776523	NC_000004.10:184837594:A:G	NC_000004.12:183679447:A:G	(self)
24887346, 13849385, 9843962, 7688292, 33624, 7111368, 3954738, 518514, 6141157, 14436702, 192990, 5240131, 341958, 89777, 6380671, 12891469, 3415188, 27703392, 13849385, 3068587, ss221427346, ss232760255, ss239973178, ss342175361, ss483124404, ss490898049, ss491362906, ss535347287, ss558100445, ss651937807, ss779498270, ss780798167, ss782005519, ss783479462, ss832974604, ss833565433, ss834968478, ss974454643, ss981093795, ss1067465647, ss1072276242, ss1313352389, ss1430185671, ss1580946429, ss1584037163, ss1611987113, ss1654981146, ss1687705589, ss1711077230, ss1752512963, ss1802758427, ss1917786723, ss1924338741, ss1946134679, ss1958748498, ss1969972533, ss2022764638, ss2150898834, ss2625875729, ss2634224279, ss2706406801, ss2734841618, ss2747333992, ss2819616056, ss2985311239, ss2996185045, ss3022447191, ss3023060958, ss3346152042, ss3629143886, ss3629143887, ss3632154544, ss3634984312, ss3638530534, ss3640691605, ss3644867542, ss3646314593, ss3652938648, ss3654083796, ss3664105714, ss3731955266, ss3744532043, ss3745284502, ss3762885188, ss3772778907, ss3784975878, ss3790397143, ss3795272898, ss3824060342, ss3825522213, ss3825667594, ss3829015250, ss3837963288, ss3860874489, ss3907259308, ss3984298183, ss3984298184, ss3984540413, ss3985116031, ss3986029511, ss3986297480, ss4017185853, ss5169734085, ss5315018723, ss5354751707, ss5507874366, ss5624144088, ss5624577481, ss5636887759, ss5799424303, ss5800119253, ss5845254061, ss5847258001, ss5848035663, ss5848620338, ss5936526146, ss5965305096, ss5979725967, ss5980268382	NC_000004.11:184600600:A:G	NC_000004.12:183679447:A:G	(self)
RCV000252950.6, RCV000829968.2, RCV001510410.7, 32720479, 176106563, 12216917, 397153, 39036878, 482628650, 3630183003, ss2270309918, ss3025162780, ss3647944742, ss3713822964, ss3726199710, ss3771175684, ss3806053250, ss3843405423, ss3955838916, ss4645251094, ss5237010372, ss5237184142, ss5262376634, ss5460789620, ss5545194544, ss5705199774, ss5805882717, ss5854615664, ss5867041797	NC_000004.12:183679447:A:G	NC_000004.12:183679447:A:G	(self)
ss5617096, ss6717598, ss44509785, ss46542370, ss65718721, ss66780026, ss67320023, ss67724530, ss70796493, ss71374681, ss75753980, ss79177183, ss84236695, ss99056578, ss120240070, ss122281805, ss134803282, ss142653622, ss154286178, ss159463105, ss159708814, ss171756198, ss173700584	NT_016354.19:109148321:A:G	NC_000004.12:183679447:A:G	(self)
ss17821569, ss22190642	NT_022792.16:17012121:A:G	NC_000004.12:183679447:A:G	(self)
14436702, ss3907259308	NC_000004.11:184600600:A:T	NC_000004.12:183679447:A:T	(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 rs4241779

PMID	Title	Author	Year	Journal
25741868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S et al.	2015	Genetics in medicine

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs4241779