Name: rs2226356
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.

rs2226356

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr21:37781729 (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>A / T>C / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.429446 (113670/264690, TOPMED)
T=0.434495 (60798/139928, GnomAD)
T=0.31478 (8895/28258, 14KJPN) (+ 19 more)
T=0.45879 (11790/25698, ALFA)
T=0.31360 (5256/16760, 8.3KJPN)
T=0.4113 (2634/6404, 1000G_30x)
T=0.4085 (2046/5008, 1000G)
C=0.4978 (2230/4480, Estonian)
T=0.4951 (1908/3854, ALSPAC)
T=0.4811 (1784/3708, TWINSUK)
T=0.3805 (720/1892, HapMap)
T=0.3302 (605/1832, Korea1K)
T=0.457 (456/998, GoNL)
C=0.458 (287/626, Chileans)
T=0.483 (290/600, NorthernSweden)
T=0.293 (130/444, SGDP_PRJ)
T=0.449 (97/216, Qatari)
T=0.286 (60/210, Vietnamese)
T=0.35 (14/40, GENOME_DK)
T=0.47 (18/38, Ancient Sardinia)
T=0.37 (14/38, Siberian)
C=0.4 (3/8, KOREAN)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: KCNJ6 : 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	25698	T=0.45879	C=0.54121
European	Sub	17398	T=0.49000	C=0.51000
African	Sub	3624	T=0.2961	C=0.7039
African Others	Sub	126	T=0.270	C=0.730
African American	Sub	3498	T=0.2970	C=0.7030
Asian	Sub	160	T=0.331	C=0.669
East Asian	Sub	102	T=0.333	C=0.667
Other Asian	Sub	58	T=0.33	C=0.67
Latin American 1	Sub	292	T=0.521	C=0.479
Latin American 2	Sub	2768	T=0.4794	C=0.5206
South Asian	Sub	110	T=0.491	C=0.509
Other	Sub	1346	T=0.4502	C=0.5498

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=0.429446	C=0.570554
gnomAD - Genomes	Global	Study-wide	139928	T=0.434495	C=0.565505
gnomAD - Genomes	European	Sub	75806	T=0.49023	C=0.50977
gnomAD - Genomes	African	Sub	41920	T=0.30883	C=0.69117
gnomAD - Genomes	American	Sub	13624	T=0.50543	C=0.49457
gnomAD - Genomes	Ashkenazi Jewish	Sub	3316	T=0.5353	C=0.4647
gnomAD - Genomes	East Asian	Sub	3120	T=0.3256	C=0.6744
gnomAD - Genomes	Other	Sub	2142	T=0.4729	C=0.5271
14KJPN	JAPANESE	Study-wide	28258	T=0.31478	C=0.68522
Allele Frequency Aggregator	Total	Global	25698	T=0.45879	C=0.54121
Allele Frequency Aggregator	European	Sub	17398	T=0.49000	C=0.51000
Allele Frequency Aggregator	African	Sub	3624	T=0.2961	C=0.7039
Allele Frequency Aggregator	Latin American 2	Sub	2768	T=0.4794	C=0.5206
Allele Frequency Aggregator	Other	Sub	1346	T=0.4502	C=0.5498
Allele Frequency Aggregator	Latin American 1	Sub	292	T=0.521	C=0.479
Allele Frequency Aggregator	Asian	Sub	160	T=0.331	C=0.669
Allele Frequency Aggregator	South Asian	Sub	110	T=0.491	C=0.509
8.3KJPN	JAPANESE	Study-wide	16760	T=0.31360	C=0.68640
1000Genomes_30x	Global	Study-wide	6404	T=0.4113	C=0.5887
1000Genomes_30x	African	Sub	1786	T=0.2912	C=0.7088
1000Genomes_30x	Europe	Sub	1266	T=0.5150	C=0.4850
1000Genomes_30x	South Asian	Sub	1202	T=0.4684	C=0.5316
1000Genomes_30x	East Asian	Sub	1170	T=0.3402	C=0.6598
1000Genomes_30x	American	Sub	980	T=0.511	C=0.489
1000Genomes	Global	Study-wide	5008	T=0.4085	C=0.5915
1000Genomes	African	Sub	1322	T=0.2950	C=0.7050
1000Genomes	East Asian	Sub	1008	T=0.3264	C=0.6736
1000Genomes	Europe	Sub	1006	T=0.5099	C=0.4901
1000Genomes	South Asian	Sub	978	T=0.476	C=0.524
1000Genomes	American	Sub	694	T=0.501	C=0.499
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.5022	C=0.4978
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.4951	C=0.5049
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.4811	C=0.5189
HapMap	Global	Study-wide	1892	T=0.3805	C=0.6195
HapMap	American	Sub	770	T=0.434	C=0.566
HapMap	African	Sub	692	T=0.325	C=0.675
HapMap	Asian	Sub	254	T=0.307	C=0.693
HapMap	Europe	Sub	176	T=0.472	C=0.528
Korean Genome Project	KOREAN	Study-wide	1832	T=0.3302	C=0.6698
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.457	C=0.543
Chileans	Chilean	Study-wide	626	T=0.542	C=0.458
Northern Sweden	ACPOP	Study-wide	600	T=0.483	C=0.517
SGDP_PRJ	Global	Study-wide	444	T=0.293	C=0.707
Qatari	Global	Study-wide	216	T=0.449	C=0.551
A Vietnamese Genetic Variation Database	Global	Study-wide	210	T=0.286	C=0.714
The Danish reference pan genome	Danish	Study-wide	40	T=0.35	C=0.65
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	38	T=0.47	C=0.53
Siberian	Global	Study-wide	38	T=0.37	C=0.63
KOREAN population from KRGDB	KOREAN	Study-wide	8	T=0.6	A=0.0, C=0.4, G=0.0

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 21	NC_000021.9:g.37781729T>A
GRCh38.p14 chr 21	NC_000021.9:g.37781729T>C
GRCh38.p14 chr 21	NC_000021.9:g.37781729T>G
GRCh37.p13 chr 21	NC_000021.8:g.39154032T>A
GRCh37.p13 chr 21	NC_000021.8:g.39154032T>C
GRCh37.p13 chr 21	NC_000021.8:g.39154032T>G
KCNJ6 RefSeqGene	NG_029892.2:g.139665A>T
KCNJ6 RefSeqGene	NG_029892.2:g.139665A>G
KCNJ6 RefSeqGene	NG_029892.2:g.139665A>C

Gene: KCNJ6, potassium inwardly rectifying channel subfamily J member 6 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
KCNJ6 transcript	NM_002240.5:c.25+58929A>T	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.

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	T=	A	C	G
GRCh38.p14 chr 21	NC_000021.9:g.37781729=	NC_000021.9:g.37781729T>A	NC_000021.9:g.37781729T>C	NC_000021.9:g.37781729T>G
GRCh37.p13 chr 21	NC_000021.8:g.39154032=	NC_000021.8:g.39154032T>A	NC_000021.8:g.39154032T>C	NC_000021.8:g.39154032T>G
KCNJ6 RefSeqGene	NG_029892.2:g.139665=	NG_029892.2:g.139665A>T	NG_029892.2:g.139665A>G	NG_029892.2:g.139665A>C
KCNJ6 transcript	NM_002240.3:c.25+58928=	NM_002240.3:c.25+58928A>T	NM_002240.3:c.25+58928A>G	NM_002240.3:c.25+58928A>C
KCNJ6 transcript	NM_002240.5:c.25+58929=	NM_002240.5:c.25+58929A>T	NM_002240.5:c.25+58929A>G	NM_002240.5:c.25+58929A>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#.

88 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss3170721	Jun 15, 2001 (96)
2	TSC-CSHL	ss5149458	Oct 08, 2002 (108)
3	TSC-CSHL	ss5149762	Oct 08, 2002 (108)
4	SC_JCM	ss5830861	Feb 20, 2003 (111)
5	BCM_SSAHASNP	ss14730980	Dec 05, 2003 (119)
6	CSHL-HAPMAP	ss20135568	Feb 27, 2004 (120)
7	SSAHASNP	ss21812435	Apr 05, 2004 (121)
8	ABI	ss41470804	Mar 15, 2006 (126)
9	AFFY	ss66114113	Nov 30, 2006 (127)
10	AFFY	ss76098428	Dec 07, 2007 (129)
11	HGSV	ss78597934	Dec 07, 2007 (129)
12	KRIBB_YJKIM	ss81730410	Dec 14, 2007 (130)
13	HGSV	ss85942779	Dec 15, 2007 (130)
14	BCMHGSC_JDW	ss91837353	Mar 24, 2008 (129)
15	HUMANGENOME_JCVI	ss96168905	Feb 06, 2009 (130)
16	BGI	ss106213372	Feb 06, 2009 (130)
17	1000GENOMES	ss112469290	Jan 25, 2009 (130)
18	1000GENOMES	ss113887964	Jan 25, 2009 (130)
19	ILLUMINA-UK	ss117524087	Feb 14, 2009 (130)
20	ENSEMBL	ss135605479	Dec 01, 2009 (131)
21	ENSEMBL	ss138316311	Dec 01, 2009 (131)
22	GMI	ss156900902	Dec 01, 2009 (131)
23	COMPLETE_GENOMICS	ss168016632	Jul 04, 2010 (132)
24	COMPLETE_GENOMICS	ss169480122	Jul 04, 2010 (132)
25	COMPLETE_GENOMICS	ss172025022	Jul 04, 2010 (132)
26	AFFY	ss172498499	Jul 04, 2010 (132)
27	BCM-HGSC-SUB	ss208774551	Jul 04, 2010 (132)
28	1000GENOMES	ss228562956	Jul 14, 2010 (132)
29	1000GENOMES	ss237981254	Jul 15, 2010 (132)
30	1000GENOMES	ss244119994	Jul 15, 2010 (132)
31	BL	ss255952322	May 09, 2011 (134)
32	GMI	ss283540926	May 04, 2012 (137)
33	GMI	ss287530653	Apr 25, 2013 (138)
34	PJP	ss292710199	May 09, 2011 (134)
35	TISHKOFF	ss566494529	Apr 25, 2013 (138)
36	SSMP	ss662405043	Apr 25, 2013 (138)
37	EVA-GONL	ss995118099	Aug 21, 2014 (142)
38	JMKIDD_LAB	ss1082498951	Aug 21, 2014 (142)
39	1000GENOMES	ss1366289852	Aug 21, 2014 (142)
40	DDI	ss1429184028	Apr 01, 2015 (144)
41	EVA_GENOME_DK	ss1579662598	Apr 01, 2015 (144)
42	EVA_UK10K_ALSPAC	ss1639561699	Apr 01, 2015 (144)
43	EVA_UK10K_TWINSUK	ss1682555732	Apr 01, 2015 (144)
44	EVA_DECODE	ss1699188414	Apr 01, 2015 (144)
45	EVA_SVP	ss1713723150	Apr 01, 2015 (144)
46	HAMMER_LAB	ss1809686169	Sep 08, 2015 (146)
47	WEILL_CORNELL_DGM	ss1938668371	Feb 12, 2016 (147)
48	GENOMED	ss1969224862	Jul 19, 2016 (147)
49	JJLAB	ss2030106056	Sep 14, 2016 (149)
50	USC_VALOUEV	ss2158710928	Dec 20, 2016 (150)
51	HUMAN_LONGEVITY	ss2245778342	Dec 20, 2016 (150)
52	SYSTEMSBIOZJU	ss2629552009	Nov 08, 2017 (151)
53	GRF	ss2704441487	Nov 08, 2017 (151)
54	GNOMAD	ss2971805261	Nov 08, 2017 (151)
55	AFFY	ss2985845905	Nov 08, 2017 (151)
56	SWEGEN	ss3018892868	Nov 08, 2017 (151)
57	BIOINF_KMB_FNS_UNIBA	ss3028891843	Nov 08, 2017 (151)
58	CSHL	ss3352718566	Nov 08, 2017 (151)
59	URBANLAB	ss3651115245	Oct 12, 2018 (152)
60	EGCUT_WGS	ss3685469570	Jul 13, 2019 (153)
61	EVA_DECODE	ss3707732198	Jul 13, 2019 (153)
62	ACPOP	ss3743732229	Jul 13, 2019 (153)
63	EVA	ss3759107597	Jul 13, 2019 (153)
64	PACBIO	ss3788762457	Jul 13, 2019 (153)
65	PACBIO	ss3793636583	Jul 13, 2019 (153)
66	PACBIO	ss3798522828	Jul 13, 2019 (153)
67	KHV_HUMAN_GENOMES	ss3822274140	Jul 13, 2019 (153)
68	EVA	ss3835874038	Apr 27, 2020 (154)
69	EVA	ss3841564154	Apr 27, 2020 (154)
70	EVA	ss3847077602	Apr 27, 2020 (154)
71	SGDP_PRJ	ss3890002866	Apr 27, 2020 (154)
72	KRGDB	ss3940358190	Apr 27, 2020 (154)
73	KOGIC	ss3983096938	Apr 27, 2020 (154)
74	EVA	ss3985903454	Apr 27, 2021 (155)
75	TOPMED	ss5101650015	Apr 27, 2021 (155)
76	TOMMO_GENOMICS	ss5231536119	Apr 27, 2021 (155)
77	1000G_HIGH_COVERAGE	ss5310220890	Oct 13, 2022 (156)
78	EVA	ss5439892828	Oct 13, 2022 (156)
79	HUGCELL_USP	ss5502267762	Oct 13, 2022 (156)
80	EVA	ss5512323863	Oct 13, 2022 (156)
81	1000G_HIGH_COVERAGE	ss5617364608	Oct 13, 2022 (156)
82	SANFORD_IMAGENETICS	ss5664015268	Oct 13, 2022 (156)
83	TOMMO_GENOMICS	ss5792050125	Oct 13, 2022 (156)
84	YY_MCH	ss5818444391	Oct 13, 2022 (156)
85	EVA	ss5839041637	Oct 13, 2022 (156)
86	EVA	ss5853305047	Oct 13, 2022 (156)
87	EVA	ss5892358757	Oct 13, 2022 (156)
88	EVA	ss5958910857	Oct 13, 2022 (156)
89	1000Genomes	NC_000021.8 - 39154032	Oct 12, 2018 (152)
90	1000Genomes_30x	NC_000021.9 - 37781729	Oct 13, 2022 (156)
91	The Avon Longitudinal Study of Parents and Children	NC_000021.8 - 39154032	Oct 12, 2018 (152)
92	Chileans	NC_000021.8 - 39154032	Apr 27, 2020 (154)
93	Genetic variation in the Estonian population	NC_000021.8 - 39154032	Oct 12, 2018 (152)
94	The Danish reference pan genome	NC_000021.8 - 39154032	Apr 27, 2020 (154)
95	gnomAD - Genomes	NC_000021.9 - 37781729	Apr 27, 2021 (155)
96	Genome of the Netherlands Release 5	NC_000021.8 - 39154032	Apr 27, 2020 (154)
97	HapMap	NC_000021.9 - 37781729	Apr 27, 2020 (154)
98	KOREAN population from KRGDB	NC_000021.8 - 39154032	Apr 27, 2020 (154)
99	Korean Genome Project	NC_000021.9 - 37781729	Apr 27, 2020 (154)
100	Northern Sweden	NC_000021.8 - 39154032	Jul 13, 2019 (153)
101	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000021.8 - 39154032	Apr 27, 2021 (155)
102	Qatari	NC_000021.8 - 39154032	Apr 27, 2020 (154)
103	SGDP_PRJ	NC_000021.8 - 39154032	Apr 27, 2020 (154)
104	Siberian	NC_000021.8 - 39154032	Apr 27, 2020 (154)
105	8.3KJPN	NC_000021.8 - 39154032	Apr 27, 2021 (155)
106	14KJPN	NC_000021.9 - 37781729	Oct 13, 2022 (156)
107	TopMed	NC_000021.9 - 37781729	Apr 27, 2021 (155)
108	UK 10K study - Twins	NC_000021.8 - 39154032	Oct 12, 2018 (152)
109	A Vietnamese Genetic Variation Database	NC_000021.8 - 39154032	Jul 13, 2019 (153)
110	ALFA	NC_000021.9 - 37781729	Apr 27, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs57648924	Feb 27, 2009 (130)
rs60879563	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
47535584, ss3940358190	NC_000021.8:39154031:T:A	NC_000021.9:37781728:T:A	(self)
ss78597934, ss85942779, ss91837353, ss112469290, ss113887964, ss117524087, ss168016632, ss169480122, ss172025022, ss208774551, ss255952322, ss283540926, ss287530653, ss292710199, ss1699188414, ss1713723150	NC_000021.7:38075901:T:C	NC_000021.9:37781728:T:C	(self)
79809831, 44169449, 265838, 31207818, 5827537, 19675903, 47535584, 17017094, 1129381, 20710293, 42019846, 11227282, 89505426, 44169449, 9745436, ss228562956, ss237981254, ss244119994, ss566494529, ss662405043, ss995118099, ss1082498951, ss1366289852, ss1429184028, ss1579662598, ss1639561699, ss1682555732, ss1809686169, ss1938668371, ss1969224862, ss2030106056, ss2158710928, ss2629552009, ss2704441487, ss2971805261, ss2985845905, ss3018892868, ss3352718566, ss3685469570, ss3743732229, ss3759107597, ss3788762457, ss3793636583, ss3798522828, ss3835874038, ss3841564154, ss3890002866, ss3940358190, ss3985903454, ss5231536119, ss5439892828, ss5512323863, ss5664015268, ss5839041637, ss5958910857	NC_000021.8:39154031:T:C	NC_000021.9:37781728:T:C	(self)
104890543, 563219308, 2209060, 39474939, 125887229, 376758961, 4088284078, ss2245778342, ss3028891843, ss3651115245, ss3707732198, ss3822274140, ss3847077602, ss3983096938, ss5101650015, ss5310220890, ss5502267762, ss5617364608, ss5792050125, ss5818444391, ss5853305047, ss5892358757	NC_000021.9:37781728:T:C	NC_000021.9:37781728:T:C	(self)
ss14730980, ss20135568, ss21812435	NT_011512.9:24814427:T:C	NC_000021.9:37781728:T:C	(self)
ss3170721, ss5149458, ss5149762, ss5830861, ss41470804, ss66114113, ss76098428, ss81730410, ss96168905, ss106213372, ss135605479, ss138316311, ss156900902, ss172498499	NT_011512.11:24815902:T:C	NC_000021.9:37781728:T:C	(self)
47535584, ss3940358190	NC_000021.8:39154031:T:G	NC_000021.9:37781728:T:G	(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 rs2226356

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

rs2226356