Name: rs2247572
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.

rs2247572

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr8:72720793 (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: C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.143452 (49222/343126, ALFA)
T=0.211530 (55990/264690, TOPMED)
T=0.209180 (29294/140042, GnomAD) (+ 20 more)
T=0.26191 (20611/78696, PAGE_STUDY)
T=0.24878 (7030/28258, 14KJPN)
T=0.24791 (4155/16760, 8.3KJPN)
T=0.2580 (1292/5008, 1000G)
T=0.1435 (643/4480, Estonian)
T=0.1266 (488/3854, ALSPAC)
T=0.1305 (484/3708, TWINSUK)
T=0.2215 (649/2930, KOREAN)
T=0.2279 (475/2084, HGDP_Stanford)
T=0.2900 (547/1886, HapMap)
T=0.2265 (415/1832, Korea1K)
T=0.2465 (280/1136, Daghestan)
T=0.120 (120/998, GoNL)
T=0.133 (80/600, NorthernSweden)
T=0.176 (38/216, Qatari)
C=0.410 (87/212, SGDP_PRJ)
T=0.165 (35/212, Vietnamese)
T=0.05 (2/40, GENOME_DK)
T=0.15 (6/40, Ancient Sardinia)
C=0.38 (13/34, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: KCNB2 : Intron Variant
Publications: 2 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	348378	C=0.855855	T=0.144145
European	Sub	298680	C=0.870637	T=0.129363
African	Sub	12240	C=0.63088	T=0.36912
African Others	Sub	456	C=0.557	T=0.443
African American	Sub	11784	C=0.63374	T=0.36626
Asian	Sub	6914	C=0.7809	T=0.2191
East Asian	Sub	4976	C=0.7719	T=0.2281
Other Asian	Sub	1938	C=0.8039	T=0.1961
Latin American 1	Sub	1132	C=0.7915	T=0.2085
Latin American 2	Sub	7208	C=0.8492	T=0.1508
South Asian	Sub	5226	C=0.7403	T=0.2597
Other	Sub	16978	C=0.83119	T=0.16881

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	343126	C=0.856548	T=0.143452
Allele Frequency Aggregator	European	Sub	295406	C=0.870615	T=0.129385
Allele Frequency Aggregator	Other	Sub	16156	C=0.83177	T=0.16823
Allele Frequency Aggregator	African	Sub	11084	C=0.63118	T=0.36882
Allele Frequency Aggregator	Latin American 2	Sub	7208	C=0.8492	T=0.1508
Allele Frequency Aggregator	Asian	Sub	6914	C=0.7809	T=0.2191
Allele Frequency Aggregator	South Asian	Sub	5226	C=0.7403	T=0.2597
Allele Frequency Aggregator	Latin American 1	Sub	1132	C=0.7915	T=0.2085
TopMed	Global	Study-wide	264690	C=0.788470	T=0.211530
gnomAD - Genomes	Global	Study-wide	140042	C=0.790820	T=0.209180
gnomAD - Genomes	European	Sub	75876	C=0.86318	T=0.13682
gnomAD - Genomes	African	Sub	41926	C=0.63264	T=0.36736
gnomAD - Genomes	American	Sub	13640	C=0.86518	T=0.13482
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.8326	T=0.1674
gnomAD - Genomes	East Asian	Sub	3124	C=0.7772	T=0.2228
gnomAD - Genomes	Other	Sub	2154	C=0.8050	T=0.1950
The PAGE Study	Global	Study-wide	78696	C=0.73809	T=0.26191
The PAGE Study	AfricanAmerican	Sub	32514	C=0.63739	T=0.36261
The PAGE Study	Mexican	Sub	10810	C=0.84283	T=0.15717
The PAGE Study	Asian	Sub	8318	C=0.7627	T=0.2373
The PAGE Study	PuertoRican	Sub	7916	C=0.8129	T=0.1871
The PAGE Study	NativeHawaiian	Sub	4534	C=0.7865	T=0.2135
The PAGE Study	Cuban	Sub	4230	C=0.8430	T=0.1570
The PAGE Study	Dominican	Sub	3826	C=0.7514	T=0.2486
The PAGE Study	CentralAmerican	Sub	2450	C=0.8453	T=0.1547
The PAGE Study	SouthAmerican	Sub	1982	C=0.8819	T=0.1181
The PAGE Study	NativeAmerican	Sub	1260	C=0.7976	T=0.2024
The PAGE Study	SouthAsian	Sub	856	C=0.748	T=0.252
14KJPN	JAPANESE	Study-wide	28258	C=0.75122	T=0.24878
8.3KJPN	JAPANESE	Study-wide	16760	C=0.75209	T=0.24791
1000Genomes	Global	Study-wide	5008	C=0.7420	T=0.2580
1000Genomes	African	Sub	1322	C=0.5469	T=0.4531
1000Genomes	East Asian	Sub	1008	C=0.7698	T=0.2302
1000Genomes	Europe	Sub	1006	C=0.8598	T=0.1402
1000Genomes	South Asian	Sub	978	C=0.762	T=0.238
1000Genomes	American	Sub	694	C=0.875	T=0.125
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.8565	T=0.1435
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.8734	T=0.1266
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8695	T=0.1305
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.7785	T=0.2215
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.7721	T=0.2279
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.732	T=0.268
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.703	T=0.297
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.829	T=0.171
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.878	T=0.122
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.587	T=0.413
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.940	T=0.060
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.81	T=0.19
HapMap	Global	Study-wide	1886	C=0.7100	T=0.2900
HapMap	American	Sub	768	C=0.755	T=0.245
HapMap	African	Sub	690	C=0.617	T=0.383
HapMap	Asian	Sub	254	C=0.740	T=0.260
HapMap	Europe	Sub	174	C=0.833	T=0.167
Korean Genome Project	KOREAN	Study-wide	1832	C=0.7735	T=0.2265
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	C=0.7535	T=0.2465
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	C=0.747	T=0.253
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=0.771	T=0.229
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	C=0.730	T=0.270
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.778	T=0.222
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.78	T=0.22
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.75	T=0.25
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.880	T=0.120
Northern Sweden	ACPOP	Study-wide	600	C=0.867	T=0.133
Qatari	Global	Study-wide	216	C=0.824	T=0.176
SGDP_PRJ	Global	Study-wide	212	C=0.410	T=0.590
A Vietnamese Genetic Variation Database	Global	Study-wide	212	C=0.835	T=0.165
The Danish reference pan genome	Danish	Study-wide	40	C=0.95	T=0.05
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	40	C=0.85	T=0.15
Siberian	Global	Study-wide	34	C=0.38	T=0.62

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 8	NC_000008.11:g.72720793C>T
GRCh37.p13 chr 8	NC_000008.10:g.73633028C>T

Gene: KCNB2, potassium voltage-gated channel subfamily B member 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
KCNB2 transcript	NM_004770.3:c.579+152480C… NM_004770.3:c.579+152480C>T	N/A	Intron Variant
KCNB2 transcript variant X1	XM_017013982.2: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	C=	T
GRCh38.p14 chr 8	NC_000008.11:g.72720793=	NC_000008.11:g.72720793C>T
GRCh37.p13 chr 8	NC_000008.10:g.73633028=	NC_000008.10:g.73633028C>T
KCNB2 transcript	NM_004770.2:c.579+152480=	NM_004770.2:c.579+152480C>T
KCNB2 transcript	NM_004770.3:c.579+152480=	NM_004770.3:c.579+152480C>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#.

141 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss3418835	Sep 28, 2001 (100)
2	SC_JCM	ss3694728	Sep 28, 2001 (100)
3	ILLUMINA	ss66612184	Nov 30, 2006 (127)
4	ILLUMINA	ss67237689	Nov 30, 2006 (127)
5	ILLUMINA	ss67634039	Nov 30, 2006 (127)
6	ILLUMINA	ss70716016	May 26, 2008 (130)
7	ILLUMINA	ss71283947	May 17, 2007 (127)
8	ILLUMINA	ss75474027	Dec 06, 2007 (129)
9	ILLUMINA	ss79123270	Dec 15, 2007 (130)
10	KRIBB_YJKIM	ss84008181	Dec 15, 2007 (130)
11	BGI	ss104542444	Dec 01, 2009 (131)
12	1000GENOMES	ss113211647	Jan 25, 2009 (130)
13	ILLUMINA	ss121966229	Dec 01, 2009 (131)
14	ILLUMINA	ss153893890	Dec 01, 2009 (131)
15	ILLUMINA	ss159372363	Dec 01, 2009 (131)
16	ILLUMINA	ss160521561	Dec 01, 2009 (131)
17	COMPLETE_GENOMICS	ss162503079	Jul 04, 2010 (132)
18	COMPLETE_GENOMICS	ss164978747	Jul 04, 2010 (132)
19	ILLUMINA	ss171122276	Jul 04, 2010 (132)
20	ILLUMINA	ss173213867	Jul 04, 2010 (132)
21	BUSHMAN	ss199324421	Jul 04, 2010 (132)
22	BCM-HGSC-SUB	ss208527795	Jul 04, 2010 (132)
23	1000GENOMES	ss223777384	Jul 14, 2010 (132)
24	1000GENOMES	ss234487688	Jul 15, 2010 (132)
25	1000GENOMES	ss241333547	Jul 15, 2010 (132)
26	BL	ss254416812	May 09, 2011 (134)
27	GMI	ss279862586	May 04, 2012 (137)
28	PJP	ss294105637	May 09, 2011 (134)
29	ILLUMINA	ss480484662	May 04, 2012 (137)
30	ILLUMINA	ss480499044	May 04, 2012 (137)
31	ILLUMINA	ss481300541	Sep 08, 2015 (146)
32	ILLUMINA	ss485039847	May 04, 2012 (137)
33	EXOME_CHIP	ss491414335	May 04, 2012 (137)
34	ILLUMINA	ss537061863	Sep 08, 2015 (146)
35	TISHKOFF	ss560833604	Apr 25, 2013 (138)
36	SSMP	ss655269475	Apr 25, 2013 (138)
37	ILLUMINA	ss778487605	Sep 08, 2015 (146)
38	ILLUMINA	ss780683169	Sep 08, 2015 (146)
39	ILLUMINA	ss782966151	Sep 08, 2015 (146)
40	ILLUMINA	ss783356554	Sep 08, 2015 (146)
41	ILLUMINA	ss783927960	Sep 08, 2015 (146)
42	ILLUMINA	ss825453788	Apr 01, 2015 (144)
43	ILLUMINA	ss832222425	Sep 08, 2015 (146)
44	ILLUMINA	ss832884181	Jul 13, 2019 (153)
45	ILLUMINA	ss833943563	Sep 08, 2015 (146)
46	EVA-GONL	ss985659603	Aug 21, 2014 (142)
47	JMKIDD_LAB	ss1075626586	Aug 21, 2014 (142)
48	1000GENOMES	ss1330410575	Aug 21, 2014 (142)
49	HAMMER_LAB	ss1397529316	Sep 08, 2015 (146)
50	DDI	ss1431555925	Apr 01, 2015 (144)
51	EVA_GENOME_DK	ss1582736971	Apr 01, 2015 (144)
52	EVA_DECODE	ss1595259725	Apr 01, 2015 (144)
53	EVA_UK10K_ALSPAC	ss1620931599	Apr 01, 2015 (144)
54	EVA_UK10K_TWINSUK	ss1663925632	Apr 01, 2015 (144)
55	EVA_SVP	ss1713045500	Apr 01, 2015 (144)
56	ILLUMINA	ss1752741437	Sep 08, 2015 (146)
57	ILLUMINA	ss1752741438	Sep 08, 2015 (146)
58	HAMMER_LAB	ss1805594569	Sep 08, 2015 (146)
59	ILLUMINA	ss1917829363	Feb 12, 2016 (147)
60	WEILL_CORNELL_DGM	ss1928944775	Feb 12, 2016 (147)
61	ILLUMINA	ss1946239342	Feb 12, 2016 (147)
62	ILLUMINA	ss1946239343	Feb 12, 2016 (147)
63	ILLUMINA	ss1959118837	Feb 12, 2016 (147)
64	ILLUMINA	ss1959118838	Feb 12, 2016 (147)
65	JJLAB	ss2025174605	Sep 14, 2016 (149)
66	USC_VALOUEV	ss2153400251	Dec 20, 2016 (150)
67	HUMAN_LONGEVITY	ss2304259702	Dec 20, 2016 (150)
68	SYSTEMSBIOZJU	ss2627065526	Nov 08, 2017 (151)
69	ILLUMINA	ss2634761875	Nov 08, 2017 (151)
70	ILLUMINA	ss2634761876	Nov 08, 2017 (151)
71	ILLUMINA	ss2634761877	Nov 08, 2017 (151)
72	GRF	ss2709173350	Nov 08, 2017 (151)
73	ILLUMINA	ss2711140299	Nov 08, 2017 (151)
74	GNOMAD	ss2868364973	Nov 08, 2017 (151)
75	AFFY	ss2985441394	Nov 08, 2017 (151)
76	AFFY	ss2986085024	Nov 08, 2017 (151)
77	SWEGEN	ss3003400558	Nov 08, 2017 (151)
78	ILLUMINA	ss3022854624	Nov 08, 2017 (151)
79	ILLUMINA	ss3022854625	Nov 08, 2017 (151)
80	BIOINF_KMB_FNS_UNIBA	ss3026373335	Nov 08, 2017 (151)
81	CSHL	ss3348242301	Nov 08, 2017 (151)
82	ILLUMINA	ss3625953923	Oct 12, 2018 (152)
83	ILLUMINA	ss3630086194	Oct 12, 2018 (152)
84	ILLUMINA	ss3630086195	Oct 12, 2018 (152)
85	ILLUMINA	ss3632660298	Oct 12, 2018 (152)
86	ILLUMINA	ss3633504750	Oct 12, 2018 (152)
87	ILLUMINA	ss3634231714	Oct 12, 2018 (152)
88	ILLUMINA	ss3635176604	Oct 12, 2018 (152)
89	ILLUMINA	ss3635176605	Oct 12, 2018 (152)
90	ILLUMINA	ss3635910412	Oct 12, 2018 (152)
91	ILLUMINA	ss3636915319	Oct 12, 2018 (152)
92	ILLUMINA	ss3637663606	Oct 12, 2018 (152)
93	ILLUMINA	ss3638767101	Oct 12, 2018 (152)
94	ILLUMINA	ss3639385949	Oct 12, 2018 (152)
95	ILLUMINA	ss3639722575	Oct 12, 2018 (152)
96	ILLUMINA	ss3640883895	Oct 12, 2018 (152)
97	ILLUMINA	ss3640883896	Oct 12, 2018 (152)
98	ILLUMINA	ss3643697514	Oct 12, 2018 (152)
99	ILLUMINA	ss3644972572	Oct 12, 2018 (152)
100	ILLUMINA	ss3644972573	Oct 12, 2018 (152)
101	ILLUMINA	ss3653397936	Oct 12, 2018 (152)
102	ILLUMINA	ss3653397937	Oct 12, 2018 (152)
103	ILLUMINA	ss3654203843	Oct 12, 2018 (152)
104	EGCUT_WGS	ss3671090744	Jul 13, 2019 (153)
105	EVA_DECODE	ss3722281501	Jul 13, 2019 (153)
106	ILLUMINA	ss3726545977	Jul 13, 2019 (153)
107	ACPOP	ss3735779892	Jul 13, 2019 (153)
108	ILLUMINA	ss3744307604	Jul 13, 2019 (153)
109	ILLUMINA	ss3744580945	Jul 13, 2019 (153)
110	ILLUMINA	ss3745476473	Jul 13, 2019 (153)
111	ILLUMINA	ss3745476474	Jul 13, 2019 (153)
112	EVA	ss3768166003	Jul 13, 2019 (153)
113	PAGE_CC	ss3771448871	Jul 13, 2019 (153)
114	ILLUMINA	ss3772968889	Jul 13, 2019 (153)
115	ILLUMINA	ss3772968890	Jul 13, 2019 (153)
116	KHV_HUMAN_GENOMES	ss3811322997	Jul 13, 2019 (153)
117	EVA	ss3831229646	Apr 26, 2020 (154)
118	EVA	ss3839124068	Apr 26, 2020 (154)
119	EVA	ss3844584176	Apr 26, 2020 (154)
120	HGDP	ss3847917839	Apr 26, 2020 (154)
121	SGDP_PRJ	ss3870210894	Apr 26, 2020 (154)
122	KRGDB	ss3917743759	Apr 26, 2020 (154)
123	KOGIC	ss3964132999	Apr 26, 2020 (154)
124	EVA	ss3985367531	Apr 26, 2021 (155)
125	EVA	ss4017396699	Apr 26, 2021 (155)
126	TOPMED	ss4790997494	Apr 26, 2021 (155)
127	TOMMO_GENOMICS	ss5189321047	Apr 26, 2021 (155)
128	1000G_HIGH_COVERAGE	ss5277624447	Oct 14, 2022 (156)
129	EVA	ss5315340209	Oct 14, 2022 (156)
130	EVA	ss5382043252	Oct 14, 2022 (156)
131	HUGCELL_USP	ss5474141324	Oct 14, 2022 (156)
132	EVA	ss5509404584	Oct 14, 2022 (156)
133	SANFORD_IMAGENETICS	ss5624696956	Oct 14, 2022 (156)
134	SANFORD_IMAGENETICS	ss5645656882	Oct 14, 2022 (156)
135	TOMMO_GENOMICS	ss5731564957	Oct 14, 2022 (156)
136	EVA	ss5799759511	Oct 14, 2022 (156)
137	YY_MCH	ss5809824682	Oct 14, 2022 (156)
138	EVA	ss5830720653	Oct 14, 2022 (156)
139	EVA	ss5856426001	Oct 14, 2022 (156)
140	EVA	ss5889520265	Oct 14, 2022 (156)
141	EVA	ss5974877025	Oct 14, 2022 (156)
142	1000Genomes	NC_000008.10 - 73633028	Oct 12, 2018 (152)
143	The Avon Longitudinal Study of Parents and Children	NC_000008.10 - 73633028	Oct 12, 2018 (152)
144	Genome-wide autozygosity in Daghestan	NC_000008.9 - 73795582	Apr 26, 2020 (154)
145	Genetic variation in the Estonian population	NC_000008.10 - 73633028	Oct 12, 2018 (152)
146	The Danish reference pan genome	NC_000008.10 - 73633028	Apr 26, 2020 (154)
147	gnomAD - Genomes	NC_000008.11 - 72720793	Apr 26, 2021 (155)
148	Genome of the Netherlands Release 5	NC_000008.10 - 73633028	Apr 26, 2020 (154)
149	HGDP-CEPH-db Supplement 1	NC_000008.9 - 73795582	Apr 26, 2020 (154)
150	HapMap	NC_000008.11 - 72720793	Apr 26, 2020 (154)
151	KOREAN population from KRGDB	NC_000008.10 - 73633028	Apr 26, 2020 (154)
152	Korean Genome Project	NC_000008.11 - 72720793	Apr 26, 2020 (154)
153	Northern Sweden	NC_000008.10 - 73633028	Jul 13, 2019 (153)
154	The PAGE Study	NC_000008.11 - 72720793	Jul 13, 2019 (153)
155	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000008.10 - 73633028	Apr 26, 2021 (155)
156	Qatari	NC_000008.10 - 73633028	Apr 26, 2020 (154)
157	SGDP_PRJ	NC_000008.10 - 73633028	Apr 26, 2020 (154)
158	Siberian	NC_000008.10 - 73633028	Apr 26, 2020 (154)
159	8.3KJPN	NC_000008.10 - 73633028	Apr 26, 2021 (155)
160	14KJPN	NC_000008.11 - 72720793	Oct 14, 2022 (156)
161	TopMed	NC_000008.11 - 72720793	Apr 26, 2021 (155)
162	UK 10K study - Twins	NC_000008.10 - 73633028	Oct 12, 2018 (152)
163	A Vietnamese Genetic Variation Database	NC_000008.10 - 73633028	Jul 13, 2019 (153)
164	ALFA	NC_000008.11 - 72720793	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)
rs60619209	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
503099, 595731, ss113211647, ss162503079, ss164978747, ss199324421, ss208527795, ss254416812, ss279862586, ss294105637, ss480484662, ss825453788, ss1397529316, ss1595259725, ss1713045500, ss3639385949, ss3639722575, ss3643697514, ss3847917839	NC_000008.9:73795581:C:T	NC_000008.11:72720792:C:T	(self)
42553951, 23667636, 16828992, 8901909, 10564562, 24921153, 9064757, 593458, 10986705, 22227874, 5916605, 47290354, 23667636, 5264134, ss223777384, ss234487688, ss241333547, ss480499044, ss481300541, ss485039847, ss491414335, ss537061863, ss560833604, ss655269475, ss778487605, ss780683169, ss782966151, ss783356554, ss783927960, ss832222425, ss832884181, ss833943563, ss985659603, ss1075626586, ss1330410575, ss1431555925, ss1582736971, ss1620931599, ss1663925632, ss1752741437, ss1752741438, ss1805594569, ss1917829363, ss1928944775, ss1946239342, ss1946239343, ss1959118837, ss1959118838, ss2025174605, ss2153400251, ss2627065526, ss2634761875, ss2634761876, ss2634761877, ss2709173350, ss2711140299, ss2868364973, ss2985441394, ss2986085024, ss3003400558, ss3022854624, ss3022854625, ss3348242301, ss3625953923, ss3630086194, ss3630086195, ss3632660298, ss3633504750, ss3634231714, ss3635176604, ss3635176605, ss3635910412, ss3636915319, ss3637663606, ss3638767101, ss3640883895, ss3640883896, ss3644972572, ss3644972573, ss3653397936, ss3653397937, ss3654203843, ss3671090744, ss3735779892, ss3744307604, ss3744580945, ss3745476473, ss3745476474, ss3768166003, ss3772968889, ss3772968890, ss3831229646, ss3839124068, ss3870210894, ss3917743759, ss3985367531, ss4017396699, ss5189321047, ss5315340209, ss5382043252, ss5509404584, ss5624696956, ss5645656882, ss5799759511, ss5830720653, ss5974877025	NC_000008.10:73633027:C:T	NC_000008.11:72720792:C:T	(self)
300070528, 3649278, 20511000, 670340, 65402061, 628375054, 1824351633, ss2304259702, ss3026373335, ss3722281501, ss3726545977, ss3771448871, ss3811322997, ss3844584176, ss3964132999, ss4790997494, ss5277624447, ss5474141324, ss5731564957, ss5809824682, ss5856426001, ss5889520265	NC_000008.11:72720792:C:T	NC_000008.11:72720792:C:T	(self)
ss3418835, ss3694728, ss66612184, ss67237689, ss67634039, ss70716016, ss71283947, ss75474027, ss79123270, ss84008181, ss104542444, ss121966229, ss153893890, ss159372363, ss160521561, ss171122276, ss173213867	NT_008183.19:25497428:C:T	NC_000008.11:72720792:C:T	(self)

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

2 citations for rs2247572

PMID	Title	Author	Year	Journal
19714205	Genome-wide association study implicates chromosome 9q21.31 as a susceptibility locus for asthma in mexican children.	Hancock DB et al.	2009	PLoS genetics
29372809	[Association study of genetic markers of schizophrenia and its cognitive endophenotypes].	Bocharova AV et al.	2017	Genetika

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
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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

rs2247572