Name: rs6835457
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.

rs6835457

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:122589971 (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>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.365832 (96832/264690, TOPMED)
G=0.348866 (48858/140048, GnomAD)
G=0.49565 (14006/28258, 14KJPN) (+ 17 more)
G=0.32076 (6437/20068, ALFA)
G=0.49982 (8377/16760, 8.3KJPN)
G=0.3660 (2344/6404, 1000G_30x)
G=0.3704 (1855/5008, 1000G)
G=0.2467 (1105/4480, Estonian)
G=0.3420 (1318/3854, ALSPAC)
G=0.3635 (1348/3708, TWINSUK)
G=0.4860 (1424/2930, KOREAN)
G=0.341 (340/998, GoNL)
G=0.480 (378/788, PRJEB37584)
G=0.318 (191/600, NorthernSweden)
G=0.400 (132/330, HapMap)
A=0.353 (115/326, SGDP_PRJ)
G=0.287 (62/216, Qatari)
G=0.426 (92/216, Vietnamese)
G=0.33 (13/40, GENOME_DK)
A=0.33 (10/30, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
Publications: 3 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	20068	A=0.67924	G=0.32076
European	Sub	15436	A=0.69778	G=0.30222
African	Sub	2946	A=0.5957	G=0.4043
African Others	Sub	114	A=0.588	G=0.412
African American	Sub	2832	A=0.5960	G=0.4040
Asian	Sub	112	A=0.661	G=0.339
East Asian	Sub	86	A=0.64	G=0.36
Other Asian	Sub	26	A=0.73	G=0.27
Latin American 1	Sub	146	A=0.692	G=0.308
Latin American 2	Sub	610	A=0.666	G=0.334
South Asian	Sub	98	A=0.72	G=0.28
Other	Sub	720	A=0.629	G=0.371

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	A=0.634168	G=0.365832
gnomAD - Genomes	Global	Study-wide	140048	A=0.651134	G=0.348866
gnomAD - Genomes	European	Sub	75878	A=0.68767	G=0.31233
gnomAD - Genomes	African	Sub	41948	A=0.59888	G=0.40112
gnomAD - Genomes	American	Sub	13634	A=0.62652	G=0.37348
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	A=0.6585	G=0.3415
gnomAD - Genomes	East Asian	Sub	3114	A=0.5552	G=0.4448
gnomAD - Genomes	Other	Sub	2150	A=0.6647	G=0.3353
14KJPN	JAPANESE	Study-wide	28258	A=0.50435	G=0.49565
Allele Frequency Aggregator	Total	Global	20068	A=0.67924	G=0.32076
Allele Frequency Aggregator	European	Sub	15436	A=0.69778	G=0.30222
Allele Frequency Aggregator	African	Sub	2946	A=0.5957	G=0.4043
Allele Frequency Aggregator	Other	Sub	720	A=0.629	G=0.371
Allele Frequency Aggregator	Latin American 2	Sub	610	A=0.666	G=0.334
Allele Frequency Aggregator	Latin American 1	Sub	146	A=0.692	G=0.308
Allele Frequency Aggregator	Asian	Sub	112	A=0.661	G=0.339
Allele Frequency Aggregator	South Asian	Sub	98	A=0.72	G=0.28
8.3KJPN	JAPANESE	Study-wide	16760	A=0.50018	G=0.49982
1000Genomes_30x	Global	Study-wide	6404	A=0.6340	G=0.3660
1000Genomes_30x	African	Sub	1786	A=0.6058	G=0.3942
1000Genomes_30x	Europe	Sub	1266	A=0.6888	G=0.3112
1000Genomes_30x	South Asian	Sub	1202	A=0.7055	G=0.2945
1000Genomes_30x	East Asian	Sub	1170	A=0.5274	G=0.4726
1000Genomes_30x	American	Sub	980	A=0.654	G=0.346
1000Genomes	Global	Study-wide	5008	A=0.6296	G=0.3704
1000Genomes	African	Sub	1322	A=0.6082	G=0.3918
1000Genomes	East Asian	Sub	1008	A=0.5149	G=0.4851
1000Genomes	Europe	Sub	1006	A=0.6829	G=0.3171
1000Genomes	South Asian	Sub	978	A=0.712	G=0.288
1000Genomes	American	Sub	694	A=0.644	G=0.356
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.7533	G=0.2467
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.6580	G=0.3420
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.6365	G=0.3635
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.5140	G=0.4860
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.659	G=0.341
CNV burdens in cranial meningiomas	Global	Study-wide	788	A=0.520	G=0.480
CNV burdens in cranial meningiomas	CRM	Sub	788	A=0.520	G=0.480
Northern Sweden	ACPOP	Study-wide	600	A=0.682	G=0.318
HapMap	Global	Study-wide	330	A=0.600	G=0.400
HapMap	African	Sub	120	A=0.658	G=0.342
HapMap	American	Sub	120	A=0.650	G=0.350
HapMap	Asian	Sub	90	A=0.46	G=0.54
SGDP_PRJ	Global	Study-wide	326	A=0.353	G=0.647
Qatari	Global	Study-wide	216	A=0.713	G=0.287
A Vietnamese Genetic Variation Database	Global	Study-wide	216	A=0.574	G=0.426
The Danish reference pan genome	Danish	Study-wide	40	A=0.68	G=0.33
Siberian	Global	Study-wide	30	A=0.33	G=0.67

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.122589971A>G
GRCh37.p13 chr 4	NC_000004.11:g.123511126A>G

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	A=	G
GRCh38.p14 chr 4	NC_000004.12:g.122589971=	NC_000004.12:g.122589971A>G
GRCh37.p13 chr 4	NC_000004.11:g.123511126=	NC_000004.11:g.123511126A>G

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#.

82 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss10146547	Jul 11, 2003 (116)
2	WI_SSAHASNP	ss14630018	Dec 05, 2003 (119)
3	CSHL-HAPMAP	ss19606198	Feb 27, 2004 (120)
4	SSAHASNP	ss22205882	Apr 05, 2004 (121)
5	ABI	ss42325440	Mar 13, 2006 (126)
6	HGSV	ss82352687	Dec 15, 2007 (130)
7	HGSV	ss82669632	Dec 15, 2007 (130)
8	HUMANGENOME_JCVI	ss98859080	Feb 06, 2009 (130)
9	BGI	ss104112620	Dec 01, 2009 (131)
10	1000GENOMES	ss108297007	Jan 23, 2009 (130)
11	1000GENOMES	ss110519236	Jan 24, 2009 (130)
12	ILLUMINA-UK	ss117171176	Feb 14, 2009 (130)
13	VANHEEL_LAB_LONDON	ss120247494	Dec 01, 2009 (131)
14	ENSEMBL	ss135155558	Dec 01, 2009 (131)
15	GMI	ss157840894	Dec 01, 2009 (131)
16	ILLUMINA	ss161081988	Dec 01, 2009 (131)
17	COMPLETE_GENOMICS	ss164237127	Jul 04, 2010 (132)
18	COMPLETE_GENOMICS	ss167110103	Jul 04, 2010 (132)
19	BUSHMAN	ss199115604	Jul 04, 2010 (132)
20	BCM-HGSC-SUB	ss206502756	Jul 04, 2010 (132)
21	1000GENOMES	ss221185559	Jul 14, 2010 (132)
22	1000GENOMES	ss232578523	Jul 14, 2010 (132)
23	1000GENOMES	ss239828823	Jul 15, 2010 (132)
24	GMI	ss277907929	May 04, 2012 (137)
25	PJP	ss293178377	May 09, 2011 (134)
26	ILLUMINA	ss479368108	Mar 15, 2016 (147)
27	TISHKOFF	ss557821555	Apr 25, 2013 (138)
28	SSMP	ss651631273	Apr 25, 2013 (138)
29	EVA-GONL	ss980622757	Aug 21, 2014 (142)
30	JMKIDD_LAB	ss1071915714	Aug 21, 2014 (142)
31	1000GENOMES	ss1311614331	Aug 21, 2014 (142)
32	DDI	ss1430034079	Apr 01, 2015 (144)
33	EVA_GENOME_DK	ss1580755024	Apr 01, 2015 (144)
34	EVA_DECODE	ss1590130613	Apr 01, 2015 (144)
35	EVA_UK10K_ALSPAC	ss1611071727	Apr 01, 2015 (144)
36	EVA_UK10K_TWINSUK	ss1654065760	Apr 01, 2015 (144)
37	HAMMER_LAB	ss1802129784	Sep 08, 2015 (146)
38	WEILL_CORNELL_DGM	ss1923865532	Feb 12, 2016 (147)
39	GENOMED	ss1969855658	Jul 19, 2016 (147)
40	JJLAB	ss2022516115	Sep 14, 2016 (149)
41	ILLUMINA	ss2094936620	Dec 20, 2016 (150)
42	ILLUMINA	ss2095149584	Dec 20, 2016 (150)
43	ILLUMINA	ss2095149585	Dec 20, 2016 (150)
44	USC_VALOUEV	ss2150647195	Dec 20, 2016 (150)
45	HUMAN_LONGEVITY	ss2266733117	Dec 20, 2016 (150)
46	SYSTEMSBIOZJU	ss2625754823	Nov 08, 2017 (151)
47	GRF	ss2706130947	Nov 08, 2017 (151)
48	GNOMAD	ss2814682032	Nov 08, 2017 (151)
49	SWEGEN	ss2995473068	Nov 08, 2017 (151)
50	BIOINF_KMB_FNS_UNIBA	ss3025035131	Nov 08, 2017 (151)
51	CSHL	ss3345937766	Nov 08, 2017 (151)
52	URBANLAB	ss3647837822	Oct 12, 2018 (152)
53	ILLUMINA	ss3652900995	Oct 12, 2018 (152)
54	ILLUMINA	ss3652900996	Oct 12, 2018 (152)
55	EGCUT_WGS	ss3663375674	Jul 13, 2019 (153)
56	EVA_DECODE	ss3712966632	Jul 13, 2019 (153)
57	ACPOP	ss3731564705	Jul 13, 2019 (153)
58	EVA	ss3762351769	Jul 13, 2019 (153)
59	PACBIO	ss3784846079	Jul 13, 2019 (153)
60	PACBIO	ss3790284091	Jul 13, 2019 (153)
61	PACBIO	ss3795159552	Jul 13, 2019 (153)
62	KHV_HUMAN_GENOMES	ss3805507003	Jul 13, 2019 (153)
63	EVA	ss3828783731	Apr 26, 2020 (154)
64	EVA	ss3837836383	Apr 26, 2020 (154)
65	EVA	ss3843275571	Apr 26, 2020 (154)
66	SGDP_PRJ	ss3859948149	Apr 26, 2020 (154)
67	KRGDB	ss3906249179	Apr 26, 2020 (154)
68	EVA	ss3984534445	Apr 26, 2021 (155)
69	TOPMED	ss4630250562	Apr 26, 2021 (155)
70	TOMMO_GENOMICS	ss5167779437	Apr 26, 2021 (155)
71	1000G_HIGH_COVERAGE	ss5260846397	Oct 17, 2022 (156)
72	EVA	ss5351976558	Oct 17, 2022 (156)
73	HUGCELL_USP	ss5459422523	Oct 17, 2022 (156)
74	EVA	ss5507709787	Oct 17, 2022 (156)
75	1000G_HIGH_COVERAGE	ss5542811337	Oct 17, 2022 (156)
76	SANFORD_IMAGENETICS	ss5635988314	Oct 17, 2022 (156)
77	TOMMO_GENOMICS	ss5702708172	Oct 17, 2022 (156)
78	YY_MCH	ss5805490168	Oct 17, 2022 (156)
79	EVA	ss5844642537	Oct 17, 2022 (156)
80	EVA	ss5854421499	Oct 17, 2022 (156)
81	EVA	ss5865306668	Oct 17, 2022 (156)
82	EVA	ss5964391031	Oct 17, 2022 (156)
83	1000Genomes	NC_000004.11 - 123511126	Oct 12, 2018 (152)
84	1000Genomes_30x	NC_000004.12 - 122589971	Oct 17, 2022 (156)
85	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 123511126	Oct 12, 2018 (152)
86	Genetic variation in the Estonian population	NC_000004.11 - 123511126	Oct 12, 2018 (152)
87	The Danish reference pan genome	NC_000004.11 - 123511126	Apr 26, 2020 (154)
88	gnomAD - Genomes	NC_000004.12 - 122589971	Apr 26, 2021 (155)
89	Genome of the Netherlands Release 5	NC_000004.11 - 123511126	Apr 26, 2020 (154)
90	HapMap	NC_000004.12 - 122589971	Apr 26, 2020 (154)
91	KOREAN population from KRGDB	NC_000004.11 - 123511126	Apr 26, 2020 (154)
92	Northern Sweden	NC_000004.11 - 123511126	Jul 13, 2019 (153)
93	CNV burdens in cranial meningiomas	NC_000004.11 - 123511126	Apr 26, 2021 (155)
94	Qatari	NC_000004.11 - 123511126	Apr 26, 2020 (154)
95	SGDP_PRJ	NC_000004.11 - 123511126	Apr 26, 2020 (154)
96	Siberian	NC_000004.11 - 123511126	Apr 26, 2020 (154)
97	8.3KJPN	NC_000004.11 - 123511126	Apr 26, 2021 (155)
98	14KJPN	NC_000004.12 - 122589971	Oct 17, 2022 (156)
99	TopMed	NC_000004.12 - 122589971	Apr 26, 2021 (155)
100	UK 10K study - Twins	NC_000004.11 - 123511126	Oct 12, 2018 (152)
101	A Vietnamese Genetic Variation Database	NC_000004.11 - 123511126	Jul 13, 2019 (153)
102	ALFA	NC_000004.12 - 122589971	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)
rs60712192	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss82352687, ss82669632	NC_000004.9:123868730:A:G	NC_000004.12:122589970:A:G	(self)
ss108297007, ss110519236, ss117171176, ss164237127, ss167110103, ss199115604, ss206502756, ss277907929, ss293178377, ss1590130613, ss2094936620	NC_000004.10:123730575:A:G	NC_000004.12:122589970:A:G	(self)
23081556, 12841160, 9113922, 6919963, 5682154, 13426573, 4849570, 83806, 5907462, 11965129, 3163549, 25748744, 12841160, 2825456, ss221185559, ss232578523, ss239828823, ss557821555, ss651631273, ss980622757, ss1071915714, ss1311614331, ss1430034079, ss1580755024, ss1611071727, ss1654065760, ss1802129784, ss1923865532, ss1969855658, ss2022516115, ss2095149584, ss2095149585, ss2150647195, ss2625754823, ss2706130947, ss2814682032, ss2995473068, ss3345937766, ss3652900995, ss3652900996, ss3663375674, ss3731564705, ss3762351769, ss3784846079, ss3790284091, ss3795159552, ss3828783731, ss3837836383, ss3859948149, ss3906249179, ss3984534445, ss5167779437, ss5351976558, ss5507709787, ss5635988314, ss5844642537, ss5964391031	NC_000004.11:123511125:A:G	NC_000004.12:122589970:A:G	(self)
30337272, 163506117, 2700991, 36545276, 467628118, 14665125053, ss2266733117, ss3025035131, ss3647837822, ss3712966632, ss3805507003, ss3843275571, ss4630250562, ss5260846397, ss5459422523, ss5542811337, ss5702708172, ss5805490168, ss5854421499, ss5865306668	NC_000004.12:122589970:A:G	NC_000004.12:122589970:A:G	(self)
ss10146547	NT_016354.15:48006256:A:G	NC_000004.12:122589970:A:G	(self)
ss14630018, ss19606198, ss22205882	NT_016354.16:48006256:A:G	NC_000004.12:122589970:A:G	(self)
ss42325440, ss98859080, ss104112620, ss120247494, ss135155558, ss157840894, ss161081988, ss479368108	NT_016354.19:48058846:A:G	NC_000004.12:122589970:A:G	(self)

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

3 citations for rs6835457

PMID	Title	Author	Year	Journal
21425124	Fine-mapping and transethnic genotyping establish IL2/IL21 genetic association with lupus and localize this genetic effect to IL21.	Hughes T et al.	2011	Arthritis and rheumatism
23172754	Implication of IL-2/IL-21 region in systemic sclerosis genetic susceptibility.	Diaz-Gallo LM et al.	2013	Annals of the rheumatic diseases
26106387	Pathogenesis of Systemic Sclerosis.	Pattanaik D et al.	2015	Frontiers in immunology

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

rs6835457