Name: rs858027
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.

rs858027

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr21:37731877 (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 / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.086874 (26540/305500, ALFA)
A=0.116589 (30860/264690, TOPMED)
A=0.112343 (15744/140142, GnomAD) (+ 22 more)
A=0.15888 (12502/78690, PAGE_STUDY)
A=0.37122 (10490/28258, 14KJPN)
A=0.37363 (6262/16760, 8.3KJPN)
A=0.1624 (1040/6404, 1000G_30x)
A=0.1723 (863/5008, 1000G)
A=0.1219 (546/4480, Estonian)
A=0.0742 (286/3854, ALSPAC)
A=0.0690 (256/3708, TWINSUK)
A=0.1694 (353/2084, HGDP_Stanford)
A=0.1845 (349/1892, HapMap)
A=0.3499 (641/1832, Korea1K)
A=0.1241 (141/1136, Daghestan)
A=0.072 (72/998, GoNL)
A=0.297 (235/790, PRJEB37584)
A=0.122 (73/600, NorthernSweden)
A=0.137 (73/532, SGDP_PRJ)
A=0.185 (40/216, Qatari)
A=0.361 (78/216, Vietnamese)
A=0.09 (5/54, Siberian)
A=0.14 (6/44, Ancient Sardinia)
A=0.12 (5/40, GENOME_DK)
A=0.4 (3/8, KOREAN)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: KCNJ6 : Intron Variant
KCNJ6-AS1 : 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	310536	A=0.087095	G=0.912905
European	Sub	271250	A=0.077456	G=0.922544
African	Sub	12138	A=0.15810	G=0.84190
African Others	Sub	456	A=0.156	G=0.844
African American	Sub	11682	A=0.15819	G=0.84181
Asian	Sub	3934	A=0.3134	G=0.6866
East Asian	Sub	3190	A=0.3408	G=0.6592
Other Asian	Sub	744	A=0.196	G=0.804
Latin American 1	Sub	1126	A=0.0915	G=0.9085
Latin American 2	Sub	7220	A=0.1256	G=0.8744
South Asian	Sub	5224	A=0.1512	G=0.8488
Other	Sub	9644	A=0.1124	G=0.8876

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
Allele Frequency Aggregator	Total	Global	305500	A=0.086874	G=0.913126
Allele Frequency Aggregator	European	Sub	268156	A=0.077436	G=0.922564
Allele Frequency Aggregator	African	Sub	10996	A=0.15988	G=0.84012
Allele Frequency Aggregator	Other	Sub	8844	A=0.1113	G=0.8887
Allele Frequency Aggregator	Latin American 2	Sub	7220	A=0.1256	G=0.8744
Allele Frequency Aggregator	South Asian	Sub	5224	A=0.1512	G=0.8488
Allele Frequency Aggregator	Asian	Sub	3934	A=0.3134	G=0.6866
Allele Frequency Aggregator	Latin American 1	Sub	1126	A=0.0915	G=0.9085
TopMed	Global	Study-wide	264690	A=0.116589	G=0.883411
gnomAD - Genomes	Global	Study-wide	140142	A=0.112343	G=0.887657
gnomAD - Genomes	European	Sub	75914	A=0.08373	G=0.91627
gnomAD - Genomes	African	Sub	41972	A=0.15858	G=0.84142
gnomAD - Genomes	American	Sub	13660	A=0.08799	G=0.91201
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	A=0.0786	G=0.9214
gnomAD - Genomes	East Asian	Sub	3122	A=0.3341	G=0.6659
gnomAD - Genomes	Other	Sub	2152	A=0.1050	G=0.8950
The PAGE Study	Global	Study-wide	78690	A=0.15888	G=0.84112
The PAGE Study	AfricanAmerican	Sub	32512	A=0.15674	G=0.84326
The PAGE Study	Mexican	Sub	10810	A=0.13219	G=0.86781
The PAGE Study	Asian	Sub	8316	A=0.3510	G=0.6490
The PAGE Study	PuertoRican	Sub	7918	A=0.1089	G=0.8911
The PAGE Study	NativeHawaiian	Sub	4534	A=0.1363	G=0.8637
The PAGE Study	Cuban	Sub	4228	A=0.0901	G=0.9099
The PAGE Study	Dominican	Sub	3828	A=0.1157	G=0.8843
The PAGE Study	CentralAmerican	Sub	2448	A=0.1083	G=0.8917
The PAGE Study	SouthAmerican	Sub	1982	A=0.1060	G=0.8940
The PAGE Study	NativeAmerican	Sub	1258	A=0.1081	G=0.8919
The PAGE Study	SouthAsian	Sub	856	A=0.167	G=0.833
14KJPN	JAPANESE	Study-wide	28258	A=0.37122	G=0.62878
8.3KJPN	JAPANESE	Study-wide	16760	A=0.37363	G=0.62637
1000Genomes_30x	Global	Study-wide	6404	A=0.1624	G=0.8376
1000Genomes_30x	African	Sub	1786	A=0.1624	G=0.8376
1000Genomes_30x	Europe	Sub	1266	A=0.0695	G=0.9305
1000Genomes_30x	South Asian	Sub	1202	A=0.1597	G=0.8403
1000Genomes_30x	East Asian	Sub	1170	A=0.3256	G=0.6744
1000Genomes_30x	American	Sub	980	A=0.091	G=0.909
1000Genomes	Global	Study-wide	5008	A=0.1723	G=0.8277
1000Genomes	African	Sub	1322	A=0.1641	G=0.8359
1000Genomes	East Asian	Sub	1008	A=0.3313	G=0.6687
1000Genomes	Europe	Sub	1006	A=0.0795	G=0.9205
1000Genomes	South Asian	Sub	978	A=0.167	G=0.833
1000Genomes	American	Sub	694	A=0.099	G=0.901
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.1219	G=0.8781
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.0742	G=0.9258
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.0690	G=0.9310
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	A=0.1694	G=0.8306
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.336	G=0.664
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.130	G=0.870
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.100	G=0.900
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.078	G=0.922
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.190	G=0.810
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.162	G=0.838
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.00	G=1.00
HapMap	Global	Study-wide	1892	A=0.1845	G=0.8155
HapMap	American	Sub	770	A=0.171	G=0.829
HapMap	African	Sub	692	A=0.155	G=0.845
HapMap	Asian	Sub	254	A=0.378	G=0.622
HapMap	Europe	Sub	176	A=0.080	G=0.920
Korean Genome Project	KOREAN	Study-wide	1832	A=0.3499	G=0.6501
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	A=0.1241	G=0.8759
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	A=0.099	G=0.901
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	A=0.125	G=0.875
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	A=0.205	G=0.795
Genome-wide autozygosity in Daghestan	Europe	Sub	108	A=0.083	G=0.917
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	A=0.24	G=0.76
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	A=0.08	G=0.92
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.072	G=0.928
CNV burdens in cranial meningiomas	Global	Study-wide	790	A=0.297	G=0.703
CNV burdens in cranial meningiomas	CRM	Sub	790	A=0.297	G=0.703
Northern Sweden	ACPOP	Study-wide	600	A=0.122	G=0.878
SGDP_PRJ	Global	Study-wide	532	A=0.137	G=0.863
Qatari	Global	Study-wide	216	A=0.185	G=0.815
A Vietnamese Genetic Variation Database	Global	Study-wide	216	A=0.361	G=0.639
Siberian	Global	Study-wide	54	A=0.09	G=0.91
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	44	A=0.14	G=0.86
The Danish reference pan genome	Danish	Study-wide	40	A=0.12	G=0.88
KOREAN population from KRGDB	KOREAN	Study-wide	8	A=0.4	G=0.6, T=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.37731877A>G
GRCh38.p14 chr 21	NC_000021.9:g.37731877A>T
GRCh37.p13 chr 21	NC_000021.8:g.39104180A>G
GRCh37.p13 chr 21	NC_000021.8:g.39104180A>T
KCNJ6 RefSeqGene	NG_029892.2:g.189517T>C
KCNJ6 RefSeqGene	NG_029892.2:g.189517T>A

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.26-16746T>C	N/A	Intron Variant

Gene: KCNJ6-AS1, uncharacterized KCNJ6-AS1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
KCNJ6-AS1 transcript	XR_937707.3:n.	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	A=	G	T
GRCh38.p14 chr 21	NC_000021.9:g.37731877=	NC_000021.9:g.37731877A>G	NC_000021.9:g.37731877A>T
GRCh37.p13 chr 21	NC_000021.8:g.39104180=	NC_000021.8:g.39104180A>G	NC_000021.8:g.39104180A>T
KCNJ6 RefSeqGene	NG_029892.2:g.189517=	NG_029892.2:g.189517T>C	NG_029892.2:g.189517T>A
KCNJ6 transcript	NM_002240.3:c.26-16746=	NM_002240.3:c.26-16746T>C	NM_002240.3:c.26-16746T>A
KCNJ6 transcript	NM_002240.5:c.26-16746=	NM_002240.5:c.26-16746T>C	NM_002240.5:c.26-16746T>A

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#.

143 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss1253688	Oct 05, 2000 (86)
2	KWOK	ss1821419	Oct 18, 2000 (87)
3	SC_JCM	ss2545424	Nov 08, 2000 (89)
4	BCM_SSAHASNP	ss10993137	Jul 11, 2003 (116)
5	CSHL-HAPMAP	ss20133125	Feb 27, 2004 (120)
6	SSAHASNP	ss21824873	Apr 05, 2004 (123)
7	ABI	ss44244660	Mar 14, 2006 (126)
8	ILLUMINA	ss67881702	Nov 29, 2006 (127)
9	ILLUMINA	ss68022421	Nov 29, 2006 (127)
10	ILLUMINA	ss68297497	Dec 12, 2006 (127)
11	ILLUMINA	ss70975485	May 26, 2008 (130)
12	ILLUMINA	ss71587052	May 16, 2007 (127)
13	ILLUMINA	ss75883340	Dec 07, 2007 (129)
14	KRIBB_YJKIM	ss83581819	Dec 15, 2007 (130)
15	BCMHGSC_JDW	ss91837187	Mar 24, 2008 (129)
16	BGI	ss103823473	Dec 01, 2009 (131)
17	1000GENOMES	ss112468909	Jan 25, 2009 (130)
18	1000GENOMES	ss113887382	Jan 25, 2009 (130)
19	ILLUMINA-UK	ss117523944	Feb 14, 2009 (130)
20	ENSEMBL	ss138316235	Dec 01, 2009 (131)
21	ENSEMBL	ss142568730	Dec 01, 2009 (131)
22	ILLUMINA	ss154474583	Dec 01, 2009 (131)
23	GMI	ss156900332	Dec 01, 2009 (131)
24	ILLUMINA	ss159649066	Dec 01, 2009 (131)
25	ILLUMINA	ss160958844	Dec 01, 2009 (131)
26	COMPLETE_GENOMICS	ss168015602	Jul 04, 2010 (132)
27	COMPLETE_GENOMICS	ss169478832	Jul 04, 2010 (132)
28	COMPLETE_GENOMICS	ss172024434	Jul 04, 2010 (132)
29	ILLUMINA	ss174752401	Jul 04, 2010 (132)
30	BUSHMAN	ss204016289	Jul 04, 2010 (132)
31	BCM-HGSC-SUB	ss208793834	Jul 04, 2010 (132)
32	1000GENOMES	ss228562750	Jul 14, 2010 (132)
33	1000GENOMES	ss237981078	Jul 15, 2010 (132)
34	1000GENOMES	ss244119868	Jul 15, 2010 (132)
35	BL	ss255951856	May 09, 2011 (134)
36	GMI	ss283540790	May 04, 2012 (137)
37	GMI	ss287530596	Apr 25, 2013 (138)
38	PJP	ss292710136	May 09, 2011 (134)
39	ILLUMINA	ss481811856	May 04, 2012 (137)
40	ILLUMINA	ss481844388	May 04, 2012 (137)
41	ILLUMINA	ss482805277	Sep 08, 2015 (146)
42	ILLUMINA	ss485700605	May 04, 2012 (137)
43	ILLUMINA	ss537566161	Sep 08, 2015 (146)
44	TISHKOFF	ss566494281	Apr 25, 2013 (138)
45	SSMP	ss662404743	Apr 25, 2013 (138)
46	ILLUMINA	ss778714273	Aug 21, 2014 (142)
47	ILLUMINA	ss783295863	Sep 08, 2015 (146)
48	ILLUMINA	ss784248338	Aug 21, 2014 (142)
49	ILLUMINA	ss832557166	Sep 08, 2015 (146)
50	ILLUMINA	ss833159886	Jul 13, 2019 (153)
51	ILLUMINA	ss834173489	Aug 21, 2014 (142)
52	EVA-GONL	ss995117692	Aug 21, 2014 (142)
53	JMKIDD_LAB	ss1082498676	Aug 21, 2014 (142)
54	1000GENOMES	ss1366288369	Aug 21, 2014 (142)
55	HAMMER_LAB	ss1397780148	Sep 08, 2015 (146)
56	DDI	ss1429183888	Apr 01, 2015 (144)
57	EVA_GENOME_DK	ss1579662444	Apr 01, 2015 (144)
58	EVA_UK10K_ALSPAC	ss1639560930	Apr 01, 2015 (144)
59	EVA_UK10K_TWINSUK	ss1682554963	Apr 01, 2015 (144)
60	EVA_DECODE	ss1699188060	Apr 01, 2015 (144)
61	EVA_SVP	ss1713723102	Apr 01, 2015 (144)
62	ILLUMINA	ss1752407806	Sep 08, 2015 (146)
63	HAMMER_LAB	ss1809685964	Sep 08, 2015 (146)
64	WEILL_CORNELL_DGM	ss1938667971	Feb 12, 2016 (147)
65	ILLUMINA	ss1946566243	Feb 12, 2016 (147)
66	ILLUMINA	ss1959953056	Feb 12, 2016 (147)
67	GENOMED	ss1969224758	Jul 19, 2016 (147)
68	JJLAB	ss2030105847	Sep 14, 2016 (149)
69	USC_VALOUEV	ss2158710718	Dec 20, 2016 (150)
70	HUMAN_LONGEVITY	ss2245775432	Dec 20, 2016 (150)
71	SYSTEMSBIOZJU	ss2629551907	Nov 08, 2017 (151)
72	ILLUMINA	ss2633848368	Nov 08, 2017 (151)
73	ILLUMINA	ss2635109677	Nov 08, 2017 (151)
74	GRF	ss2704441215	Nov 08, 2017 (151)
75	ILLUMINA	ss2710950290	Nov 08, 2017 (151)
76	GNOMAD	ss2971801313	Nov 08, 2017 (151)
77	AFFY	ss2985845804	Nov 08, 2017 (151)
78	SWEGEN	ss3018892316	Nov 08, 2017 (151)
79	ILLUMINA	ss3022159129	Nov 08, 2017 (151)
80	BIOINF_KMB_FNS_UNIBA	ss3028891731	Nov 08, 2017 (151)
81	CSHL	ss3352718350	Nov 08, 2017 (151)
82	ILLUMINA	ss3625796675	Oct 12, 2018 (152)
83	ILLUMINA	ss3628480386	Oct 12, 2018 (152)
84	ILLUMINA	ss3631801985	Oct 12, 2018 (152)
85	ILLUMINA	ss3633265031	Oct 12, 2018 (152)
86	ILLUMINA	ss3633979990	Oct 12, 2018 (152)
87	ILLUMINA	ss3634854684	Oct 12, 2018 (152)
88	ILLUMINA	ss3635664726	Oct 12, 2018 (152)
89	ILLUMINA	ss3636550471	Oct 12, 2018 (152)
90	ILLUMINA	ss3637416889	Oct 12, 2018 (152)
91	ILLUMINA	ss3638367908	Oct 12, 2018 (152)
92	ILLUMINA	ss3639187691	Oct 12, 2018 (152)
93	ILLUMINA	ss3639896410	Oct 12, 2018 (152)
94	ILLUMINA	ss3640561984	Oct 12, 2018 (152)
95	ILLUMINA	ss3643328844	Oct 12, 2018 (152)
96	ILLUMINA	ss3643943875	Oct 12, 2018 (152)
97	ILLUMINA	ss3644792600	Oct 12, 2018 (152)
98	URBANLAB	ss3651115134	Oct 12, 2018 (152)
99	ILLUMINA	ss3652618873	Oct 12, 2018 (152)
100	EGCUT_WGS	ss3685468973	Jul 13, 2019 (153)
101	EVA_DECODE	ss3707731538	Jul 13, 2019 (153)
102	ILLUMINA	ss3725947707	Jul 13, 2019 (153)
103	ACPOP	ss3743731925	Jul 13, 2019 (153)
104	ILLUMINA	ss3744203364	Jul 13, 2019 (153)
105	ILLUMINA	ss3745154542	Jul 13, 2019 (153)
106	EVA	ss3759107098	Jul 13, 2019 (153)
107	PAGE_CC	ss3772073724	Jul 13, 2019 (153)
108	ILLUMINA	ss3772650595	Jul 13, 2019 (153)
109	PACBIO	ss3788762324	Jul 13, 2019 (153)
110	PACBIO	ss3793636448	Jul 13, 2019 (153)
111	PACBIO	ss3798522668	Jul 13, 2019 (153)
112	KHV_HUMAN_GENOMES	ss3822273715	Jul 13, 2019 (153)
113	EVA	ss3835873854	Apr 27, 2020 (154)
114	EVA	ss3841564048	Apr 27, 2020 (154)
115	EVA	ss3847077489	Apr 27, 2020 (154)
116	HGDP	ss3847680867	Apr 27, 2020 (154)
117	SGDP_PRJ	ss3890002053	Apr 27, 2020 (154)
118	KRGDB	ss3940358054	Apr 27, 2020 (154)
119	KOGIC	ss3983096223	Apr 27, 2020 (154)
120	EVA	ss3984756317	Apr 27, 2021 (155)
121	EVA	ss3985903420	Apr 27, 2021 (155)
122	EVA	ss4017868025	Apr 27, 2021 (155)
123	TOPMED	ss5101637675	Apr 27, 2021 (155)
124	TOMMO_GENOMICS	ss5231534517	Apr 27, 2021 (155)
125	1000G_HIGH_COVERAGE	ss5310219657	Oct 13, 2022 (156)
126	EVA	ss5316037840	Oct 13, 2022 (156)
127	EVA	ss5439890378	Oct 13, 2022 (156)
128	HUGCELL_USP	ss5502266660	Oct 13, 2022 (156)
129	EVA	ss5512323739	Oct 13, 2022 (156)
130	1000G_HIGH_COVERAGE	ss5617362735	Oct 13, 2022 (156)
131	SANFORD_IMAGENETICS	ss5624496483	Oct 13, 2022 (156)
132	SANFORD_IMAGENETICS	ss5664014579	Oct 13, 2022 (156)
133	TOMMO_GENOMICS	ss5792048032	Oct 13, 2022 (156)
134	EVA	ss5800033954	Oct 13, 2022 (156)
135	YY_MCH	ss5818444054	Oct 13, 2022 (156)
136	EVA	ss5839041101	Oct 13, 2022 (156)
137	EVA	ss5847513594	Oct 13, 2022 (156)
138	EVA	ss5847934288	Oct 13, 2022 (156)
139	EVA	ss5853304918	Oct 13, 2022 (156)
140	EVA	ss5892357307	Oct 13, 2022 (156)
141	EVA	ss5958910126	Oct 13, 2022 (156)
142	EVA	ss5979629079	Oct 13, 2022 (156)
143	EVA	ss5981114600	Oct 13, 2022 (156)
144	1000Genomes	NC_000021.8 - 39104180	Oct 12, 2018 (152)
145	1000Genomes_30x	NC_000021.9 - 37731877	Oct 13, 2022 (156)
146	The Avon Longitudinal Study of Parents and Children	NC_000021.8 - 39104180	Oct 12, 2018 (152)
147	Genome-wide autozygosity in Daghestan	NC_000021.7 - 38026050	Apr 27, 2020 (154)
148	Genetic variation in the Estonian population	NC_000021.8 - 39104180	Oct 12, 2018 (152)
149	The Danish reference pan genome	NC_000021.8 - 39104180	Apr 27, 2020 (154)
150	gnomAD - Genomes	NC_000021.9 - 37731877	Apr 27, 2021 (155)
151	Genome of the Netherlands Release 5	NC_000021.8 - 39104180	Apr 27, 2020 (154)
152	HGDP-CEPH-db Supplement 1	NC_000021.7 - 38026050	Apr 27, 2020 (154)
153	HapMap	NC_000021.9 - 37731877	Apr 27, 2020 (154)
154	KOREAN population from KRGDB	NC_000021.8 - 39104180	Apr 27, 2020 (154)
155	Korean Genome Project	NC_000021.9 - 37731877	Apr 27, 2020 (154)
156	Northern Sweden	NC_000021.8 - 39104180	Jul 13, 2019 (153)
157	The PAGE Study	NC_000021.9 - 37731877	Jul 13, 2019 (153)
158	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000021.8 - 39104180	Apr 27, 2021 (155)
159	CNV burdens in cranial meningiomas	NC_000021.8 - 39104180	Apr 27, 2021 (155)
160	Qatari	NC_000021.8 - 39104180	Apr 27, 2020 (154)
161	SGDP_PRJ	NC_000021.8 - 39104180	Apr 27, 2020 (154)
162	Siberian	NC_000021.8 - 39104180	Apr 27, 2020 (154)
163	8.3KJPN	NC_000021.8 - 39104180	Apr 27, 2021 (155)
164	14KJPN	NC_000021.9 - 37731877	Oct 13, 2022 (156)
165	TopMed	NC_000021.9 - 37731877	Apr 27, 2021 (155)
166	UK 10K study - Twins	NC_000021.8 - 39104180	Oct 12, 2018 (152)
167	A Vietnamese Genetic Variation Database	NC_000021.8 - 39104180	Jul 13, 2019 (153)
168	ALFA	NC_000021.9 - 37731877	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)
rs13050374	Sep 24, 2004 (123)
rs60444788	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
294165, 358759, ss91837187, ss112468909, ss113887382, ss117523944, ss160958844, ss168015602, ss169478832, ss172024434, ss204016289, ss208793834, ss255951856, ss283540790, ss287530596, ss292710136, ss481811856, ss1397780148, ss1699188060, ss1713723102, ss2635109677, ss3639187691, ss3639896410, ss3643328844, ss3643943875, ss3847680867	NC_000021.7:38026049:A:G	NC_000021.9:37731876:A:G	(self)
79808291, 44168606, 31207221, 5827383, 19675508, 47535448, 17016790, 1129347, 305896, 20709893, 42019033, 11227072, 89503824, 44168606, 9745234, ss228562750, ss237981078, ss244119868, ss481844388, ss482805277, ss485700605, ss537566161, ss566494281, ss662404743, ss778714273, ss783295863, ss784248338, ss832557166, ss833159886, ss834173489, ss995117692, ss1082498676, ss1366288369, ss1429183888, ss1579662444, ss1639560930, ss1682554963, ss1752407806, ss1809685964, ss1938667971, ss1946566243, ss1959953056, ss1969224758, ss2030105847, ss2158710718, ss2629551907, ss2633848368, ss2704441215, ss2710950290, ss2971801313, ss2985845804, ss3018892316, ss3022159129, ss3352718350, ss3625796675, ss3628480386, ss3631801985, ss3633265031, ss3633979990, ss3634854684, ss3635664726, ss3636550471, ss3637416889, ss3638367908, ss3640561984, ss3644792600, ss3652618873, ss3685468973, ss3743731925, ss3744203364, ss3745154542, ss3759107098, ss3772650595, ss3788762324, ss3793636448, ss3798522668, ss3835873854, ss3841564048, ss3890002053, ss3940358054, ss3984756317, ss3985903420, ss4017868025, ss5231534517, ss5316037840, ss5439890378, ss5512323739, ss5624496483, ss5664014579, ss5800033954, ss5839041101, ss5847513594, ss5847934288, ss5958910126, ss5979629079, ss5981114600	NC_000021.8:39104179:A:G	NC_000021.9:37731876:A:G	(self)
104888670, 563209570, 2208970, 39474224, 1295193, 125885136, 376746621, 11836594164, ss2245775432, ss3028891731, ss3651115134, ss3707731538, ss3725947707, ss3772073724, ss3822273715, ss3847077489, ss3983096223, ss5101637675, ss5310219657, ss5502266660, ss5617362735, ss5792048032, ss5818444054, ss5853304918, ss5892357307	NC_000021.9:37731876:A:G	NC_000021.9:37731876:A:G	(self)
ss10993137	NT_011512.8:24764574:A:G	NC_000021.9:37731876:A:G	(self)
ss20133125, ss21824873	NT_011512.9:24764575:A:G	NC_000021.9:37731876:A:G	(self)
ss1253688, ss1821419, ss2545424, ss44244660, ss67881702, ss68022421, ss68297497, ss70975485, ss71587052, ss75883340, ss83581819, ss103823473, ss138316235, ss142568730, ss154474583, ss156900332, ss159649066, ss174752401	NT_011512.11:24766050:A:G	NC_000021.9:37731876:A:G	(self)
47535448, ss3940358054	NC_000021.8:39104179:A:T	NC_000021.9:37731876: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 rs858027

PMID	Title	Author	Year	Journal
32999326	Author Correction: Genome-wide human brain eQTLs: In-depth analysis and insights using the UKBEC dataset.	Sng LMF et al.	2020	Scientific reports

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

rs858027