Name: rs2296212
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.

rs2296212

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr9:2191309 (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>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.181238 (47972/264690, TOPMED)
G=0.168883 (42451/251364, GnomAD_exome)
G=0.170397 (23874/140108, GnomAD) (+ 23 more)
G=0.168370 (20426/121316, ExAC)
G=0.12923 (6375/49332, ALFA)
G=0.16448 (4648/28258, 14KJPN)
G=0.16539 (2772/16760, 8.3KJPN)
G=0.16523 (2149/13006, GO-ESP)
G=0.2228 (1427/6404, 1000G_30x)
G=0.2236 (1120/5008, 1000G)
G=0.1208 (541/4480, Estonian)
G=0.1191 (459/3854, ALSPAC)
G=0.1232 (457/3708, TWINSUK)
G=0.2129 (622/2922, KOREAN)
G=0.2211 (405/1832, Korea1K)
G=0.116 (116/998, GoNL)
G=0.238 (146/614, Vietnamese)
G=0.147 (88/600, NorthernSweden)
G=0.118 (63/534, MGP)
G=0.162 (53/328, HapMap)
G=0.155 (47/304, FINRISK)
G=0.185 (40/216, Qatari)
C=0.427 (88/206, SGDP_PRJ)
G=0.10 (4/40, GENOME_DK)
C=0.50 (8/16, Siberian)
G=0.50 (8/16, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: SMARCA2 : Missense Variant
LOC107987043 : 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	49332	C=0.87077	G=0.12923
European	Sub	37294	C=0.88486	G=0.11514
African	Sub	3574	C=0.7563	G=0.2437
African Others	Sub	122	C=0.689	G=0.311
African American	Sub	3452	C=0.7587	G=0.2413
Asian	Sub	168	C=0.762	G=0.238
East Asian	Sub	112	C=0.786	G=0.214
Other Asian	Sub	56	C=0.71	G=0.29
Latin American 1	Sub	500	C=0.800	G=0.200
Latin American 2	Sub	628	C=0.755	G=0.245
South Asian	Sub	98	C=0.76	G=0.24
Other	Sub	7070	C=0.8738	G=0.1262

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	C=0.818762	G=0.181238
gnomAD - Exomes	Global	Study-wide	251364	C=0.831117	G=0.168883
gnomAD - Exomes	European	Sub	135352	C=0.885092	G=0.114908
gnomAD - Exomes	Asian	Sub	48992	C=0.75798	G=0.24202
gnomAD - Exomes	American	Sub	34550	C=0.75300	G=0.24700
gnomAD - Exomes	African	Sub	16256	C=0.71734	G=0.28266
gnomAD - Exomes	Ashkenazi Jewish	Sub	10080	C=0.90456	G=0.09544
gnomAD - Exomes	Other	Sub	6134	C=0.8451	G=0.1549
gnomAD - Genomes	Global	Study-wide	140108	C=0.829603	G=0.170397
gnomAD - Genomes	European	Sub	75888	C=0.88505	G=0.11495
gnomAD - Genomes	African	Sub	41972	C=0.73027	G=0.26973
gnomAD - Genomes	American	Sub	13648	C=0.82107	G=0.17893
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=0.9004	G=0.0996
gnomAD - Genomes	East Asian	Sub	3126	C=0.7764	G=0.2236
gnomAD - Genomes	Other	Sub	2150	C=0.8335	G=0.1665
ExAC	Global	Study-wide	121316	C=0.831630	G=0.168370
ExAC	Europe	Sub	73324	C=0.88862	G=0.11138
ExAC	Asian	Sub	25138	C=0.75471	G=0.24529
ExAC	American	Sub	11544	C=0.73857	G=0.26143
ExAC	African	Sub	10402	C=0.72005	G=0.27995
ExAC	Other	Sub	908	C=0.820	G=0.180
Allele Frequency Aggregator	Total	Global	49332	C=0.87077	G=0.12923
Allele Frequency Aggregator	European	Sub	37294	C=0.88486	G=0.11514
Allele Frequency Aggregator	Other	Sub	7070	C=0.8738	G=0.1262
Allele Frequency Aggregator	African	Sub	3574	C=0.7563	G=0.2437
Allele Frequency Aggregator	Latin American 2	Sub	628	C=0.755	G=0.245
Allele Frequency Aggregator	Latin American 1	Sub	500	C=0.800	G=0.200
Allele Frequency Aggregator	Asian	Sub	168	C=0.762	G=0.238
Allele Frequency Aggregator	South Asian	Sub	98	C=0.76	G=0.24
14KJPN	JAPANESE	Study-wide	28258	C=0.83552	G=0.16448
8.3KJPN	JAPANESE	Study-wide	16760	C=0.83461	G=0.16539
GO Exome Sequencing Project	Global	Study-wide	13006	C=0.83477	G=0.16523
GO Exome Sequencing Project	European American	Sub	8600	C=0.8881	G=0.1119
GO Exome Sequencing Project	African American	Sub	4406	C=0.7306	G=0.2694
1000Genomes_30x	Global	Study-wide	6404	C=0.7772	G=0.2228
1000Genomes_30x	African	Sub	1786	C=0.6937	G=0.3063
1000Genomes_30x	Europe	Sub	1266	C=0.9013	G=0.0987
1000Genomes_30x	South Asian	Sub	1202	C=0.7529	G=0.2471
1000Genomes_30x	East Asian	Sub	1170	C=0.7838	G=0.2162
1000Genomes_30x	American	Sub	980	C=0.791	G=0.209
1000Genomes	Global	Study-wide	5008	C=0.7764	G=0.2236
1000Genomes	African	Sub	1322	C=0.6929	G=0.3071
1000Genomes	East Asian	Sub	1008	C=0.7837	G=0.2163
1000Genomes	Europe	Sub	1006	C=0.9016	G=0.0984
1000Genomes	South Asian	Sub	978	C=0.740	G=0.260
1000Genomes	American	Sub	694	C=0.794	G=0.206
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.8792	G=0.1208
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.8809	G=0.1191
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8768	G=0.1232
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=0.7871	G=0.2129
Korean Genome Project	KOREAN	Study-wide	1832	C=0.7789	G=0.2211
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.884	G=0.116
A Vietnamese Genetic Variation Database	Global	Study-wide	614	C=0.762	G=0.238
Northern Sweden	ACPOP	Study-wide	600	C=0.853	G=0.147
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.882	G=0.118
HapMap	Global	Study-wide	328	C=0.838	G=0.162
HapMap	African	Sub	120	C=0.750	G=0.250
HapMap	American	Sub	120	C=0.900	G=0.100
HapMap	Asian	Sub	88	C=0.88	G=0.12
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.845	G=0.155
Qatari	Global	Study-wide	216	C=0.815	G=0.185
SGDP_PRJ	Global	Study-wide	206	C=0.427	G=0.573
The Danish reference pan genome	Danish	Study-wide	40	C=0.90	G=0.10
Siberian	Global	Study-wide	16	C=0.50	G=0.50

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 9	NC_000009.12:g.2191309C>G
GRCh37.p13 chr 9	NC_000009.11:g.2191309C>G
SMARCA2 RefSeqGene (LRG_882)	NG_032162.2:g.216020C>G

Gene: SMARCA2, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SMARCA2 transcript variant 3	NM_001289396.1:c.4638C>G	D [GAC] > E [GAG]	Coding Sequence Variant
probable global transcription activator SNF2L2 isoform a	NP_001276325.1:p.Asp1546G… NP_001276325.1:p.Asp1546Glu	D (Asp) > E (Glu)	Missense Variant
SMARCA2 transcript variant 6	NM_001289399.1:c.696C>G	D [GAC] > E [GAG]	Coding Sequence Variant
probable global transcription activator SNF2L2 isoform e precursor	NP_001276328.1:p.Asp232Glu	D (Asp) > E (Glu)	Missense Variant
SMARCA2 transcript variant 7	NM_001289400.1:c.702C>G	D [GAC] > E [GAG]	Coding Sequence Variant
probable global transcription activator SNF2L2 isoform f precursor	NP_001276329.1:p.Asp234Glu	D (Asp) > E (Glu)	Missense Variant
SMARCA2 transcript variant 1	NM_003070.5:c.4638C>G	D [GAC] > E [GAG]	Coding Sequence Variant
probable global transcription activator SNF2L2 isoform a	NP_003061.3:p.Asp1546Glu	D (Asp) > E (Glu)	Missense Variant
SMARCA2 transcript variant 5	NM_001289398.2:c.612C>G	D [GAC] > E [GAG]	Coding Sequence Variant
probable global transcription activator SNF2L2 isoform d	NP_001276327.1:p.Asp204Glu	D (Asp) > E (Glu)	Missense Variant
SMARCA2 transcript variant 4	NM_001289397.2:c.4410C>G	D [GAC] > E [GAG]	Coding Sequence Variant
probable global transcription activator SNF2L2 isoform c	NP_001276326.1:p.Asp1470G… NP_001276326.1:p.Asp1470Glu	D (Asp) > E (Glu)	Missense Variant
SMARCA2 transcript variant 2	NM_139045.4:c.4584C>G	D [GAC] > E [GAG]	Coding Sequence Variant
probable global transcription activator SNF2L2 isoform b	NP_620614.2:p.Asp1528Glu	D (Asp) > E (Glu)	Missense Variant

Gene: LOC107987043, uncharacterized LOC107987043 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC107987043 transcript variant X2	XR_001746600.2:n.	N/A	Intron Variant
LOC107987043 transcript variant X1	XR_007061395.1: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.

Allele: G (allele ID: 131881 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000114292.6	not specified	Likely-Benign
RCV000298011.4	Nicolaides-Baraitser syndrome	Benign
RCV000715215.2	History of neurodevelopmental disorder	Benign
RCV001650946.6	not provided	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	C=	G
GRCh38.p14 chr 9	NC_000009.12:g.2191309=	NC_000009.12:g.2191309C>G
GRCh37.p13 chr 9	NC_000009.11:g.2191309=	NC_000009.11:g.2191309C>G
SMARCA2 RefSeqGene (LRG_882)	NG_032162.2:g.216020=	NG_032162.2:g.216020C>G
SMARCA2 transcript variant 1	NM_003070.5:c.4638=	NM_003070.5:c.4638C>G
SMARCA2 transcript variant 1	NM_003070.4:c.4638=	NM_003070.4:c.4638C>G
SMARCA2 transcript variant 1	NM_003070.3:c.4638=	NM_003070.3:c.4638C>G
SMARCA2 transcript variant 2	NM_139045.4:c.4584=	NM_139045.4:c.4584C>G
SMARCA2 transcript variant 2	NM_139045.3:c.4584=	NM_139045.3:c.4584C>G
SMARCA2 transcript variant 2	NM_139045.2:c.4584=	NM_139045.2:c.4584C>G
SMARCA2 transcript variant 4	NM_001289397.2:c.4410=	NM_001289397.2:c.4410C>G
SMARCA2 transcript variant 4	NM_001289397.1:c.4410=	NM_001289397.1:c.4410C>G
SMARCA2 transcript variant 5	NM_001289398.2:c.612=	NM_001289398.2:c.612C>G
SMARCA2 transcript variant 5	NM_001289398.1:c.612=	NM_001289398.1:c.612C>G
SMARCA2 transcript variant 3	NM_001289396.1:c.4638=	NM_001289396.1:c.4638C>G
SMARCA2 transcript variant 7	NM_001289400.1:c.702=	NM_001289400.1:c.702C>G
SMARCA2 transcript variant 6	NM_001289399.1:c.696=	NM_001289399.1:c.696C>G
probable global transcription activator SNF2L2 isoform a	NP_003061.3:p.Asp1546=	NP_003061.3:p.Asp1546Glu
probable global transcription activator SNF2L2 isoform b	NP_620614.2:p.Asp1528=	NP_620614.2:p.Asp1528Glu
probable global transcription activator SNF2L2 isoform c	NP_001276326.1:p.Asp1470=	NP_001276326.1:p.Asp1470Glu
probable global transcription activator SNF2L2 isoform d	NP_001276327.1:p.Asp204=	NP_001276327.1:p.Asp204Glu
probable global transcription activator SNF2L2 isoform a	NP_001276325.1:p.Asp1546=	NP_001276325.1:p.Asp1546Glu
probable global transcription activator SNF2L2 isoform f precursor	NP_001276329.1:p.Asp234=	NP_001276329.1:p.Asp234Glu
probable global transcription activator SNF2L2 isoform e precursor	NP_001276328.1:p.Asp232=	NP_001276328.1:p.Asp232Glu

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#.

101 SubSNP, 25 Frequency, 4 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss3240243	Sep 28, 2001 (100)
2	CGAP-GAI	ss16239441	Feb 27, 2004 (120)
3	CSHL-HAPMAP	ss18020623	Feb 27, 2004 (120)
4	PERLEGEN	ss23306176	Sep 20, 2004 (123)
5	ABI	ss43831476	Mar 13, 2006 (126)
6	ILLUMINA	ss65726703	Oct 15, 2006 (127)
7	PERLEGEN	ss69278863	May 17, 2007 (127)
8	SI_EXO	ss76899464	Dec 06, 2007 (129)
9	CORNELL	ss86241017	Mar 25, 2008 (129)
10	CANCER-GENOME	ss86344061	Mar 23, 2008 (129)
11	BCMHGSC_JDW	ss93995211	Mar 25, 2008 (129)
12	1000GENOMES	ss108522348	Jan 23, 2009 (130)
13	ENSEMBL	ss143889396	Dec 01, 2009 (131)
14	SEATTLESEQ	ss159717896	Dec 01, 2009 (131)
15	ENSEMBL	ss161711391	Dec 01, 2009 (131)
16	COMPLETE_GENOMICS	ss163675251	Jul 04, 2010 (132)
17	COMPLETE_GENOMICS	ss166026138	Jul 04, 2010 (132)
18	ILLUMINA	ss168923382	Jul 04, 2010 (132)
19	BUSHMAN	ss199988171	Jul 04, 2010 (132)
20	1000GENOMES	ss224075282	Jul 14, 2010 (132)
21	1000GENOMES	ss234693226	Jul 15, 2010 (132)
22	1000GENOMES	ss241493432	Jul 15, 2010 (132)
23	GMI	ss280069913	May 04, 2012 (137)
24	PJP	ss294270797	May 09, 2011 (134)
25	NHLBI-ESP	ss342268482	May 09, 2011 (134)
26	ILLUMINA	ss483809117	May 04, 2012 (137)
27	ILLUMINA	ss485765711	May 04, 2012 (137)
28	1000GENOMES	ss490973701	May 04, 2012 (137)
29	EXOME_CHIP	ss491419788	May 04, 2012 (137)
30	CLINSEQ_SNP	ss491932102	May 04, 2012 (137)
31	TISHKOFF	ss561180993	Apr 25, 2013 (138)
32	SSMP	ss655611758	Apr 25, 2013 (138)
33	ILLUMINA	ss782348135	Aug 21, 2014 (142)
34	JMKIDD_LAB	ss974469993	Aug 21, 2014 (142)
35	EVA-GONL	ss986223942	Aug 21, 2014 (142)
36	JMKIDD_LAB	ss1067501885	Aug 21, 2014 (142)
37	JMKIDD_LAB	ss1076043552	Aug 21, 2014 (142)
38	1000GENOMES	ss1332561098	Aug 21, 2014 (142)
39	DDI	ss1431723501	Apr 01, 2015 (144)
40	CLINVAR	ss1457612356	Nov 23, 2014 (142)
41	EVA_GENOME_DK	ss1582951775	Apr 01, 2015 (144)
42	EVA_FINRISK	ss1584061118	Apr 01, 2015 (144)
43	EVA_DECODE	ss1595846892	Apr 01, 2015 (144)
44	EVA_UK10K_ALSPAC	ss1622074351	Apr 01, 2015 (144)
45	EVA_UK10K_TWINSUK	ss1665068384	Apr 01, 2015 (144)
46	EVA_EXAC	ss1689399409	Apr 01, 2015 (144)
47	EVA_MGP	ss1711214579	Apr 01, 2015 (144)
48	HAMMER_LAB	ss1805840956	Sep 08, 2015 (146)
49	WEILL_CORNELL_DGM	ss1929502934	Feb 12, 2016 (147)
50	JJLAB	ss2025457767	Sep 14, 2016 (149)
51	USC_VALOUEV	ss2153688810	Dec 20, 2016 (150)
52	HUMAN_LONGEVITY	ss2308699078	Dec 20, 2016 (150)
53	SYSTEMSBIOZJU	ss2627205188	Nov 08, 2017 (151)
54	ILLUMINA	ss2635191201	Nov 08, 2017 (151)
55	GRF	ss2709483316	Nov 08, 2017 (151)
56	GNOMAD	ss2737474830	Nov 08, 2017 (151)
57	GNOMAD	ss2748145979	Nov 08, 2017 (151)
58	GNOMAD	ss2874486566	Nov 08, 2017 (151)
59	AFFY	ss2985453857	Nov 08, 2017 (151)
60	SWEGEN	ss3004256189	Nov 08, 2017 (151)
61	BIOINF_KMB_FNS_UNIBA	ss3026516994	Nov 08, 2017 (151)
62	CSHL	ss3348484469	Nov 08, 2017 (151)
63	ILLUMINA	ss3638795504	Oct 12, 2018 (152)
64	OMUKHERJEE_ADBS	ss3646384204	Oct 12, 2018 (152)
65	ILLUMINA	ss3654217802	Oct 12, 2018 (152)
66	EGCUT_WGS	ss3671985068	Jul 13, 2019 (153)
67	EVA_DECODE	ss3723319666	Jul 13, 2019 (153)
68	ACPOP	ss3736238968	Jul 13, 2019 (153)
69	EVA	ss3768811671	Jul 13, 2019 (153)
70	KHV_HUMAN_GENOMES	ss3811971113	Jul 13, 2019 (153)
71	EVA	ss3824411850	Apr 26, 2020 (154)
72	EVA	ss3825751078	Apr 26, 2020 (154)
73	EVA	ss3831495093	Apr 26, 2020 (154)
74	SGDP_PRJ	ss3871349445	Apr 26, 2020 (154)
75	KRGDB	ss3918976014	Apr 26, 2020 (154)
76	KOGIC	ss3965151751	Apr 26, 2020 (154)
77	FSA-LAB	ss3984412384	Apr 26, 2021 (155)
78	FSA-LAB	ss3984412385	Apr 26, 2021 (155)
79	EVA	ss3986045451	Apr 26, 2021 (155)
80	EVA	ss3986440284	Apr 26, 2021 (155)
81	TOPMED	ss4809580063	Apr 26, 2021 (155)
82	TOMMO_GENOMICS	ss5191715624	Apr 26, 2021 (155)
83	EVA	ss5237046906	Apr 26, 2021 (155)
84	EVA	ss5237652526	Oct 16, 2022 (156)
85	1000G_HIGH_COVERAGE	ss5279508941	Oct 16, 2022 (156)
86	TRAN_CS_UWATERLOO	ss5314424817	Oct 16, 2022 (156)
87	EVA	ss5315377060	Oct 16, 2022 (156)
88	EVA	ss5385509569	Oct 16, 2022 (156)
89	HUGCELL_USP	ss5475820654	Oct 16, 2022 (156)
90	1000G_HIGH_COVERAGE	ss5571120008	Oct 16, 2022 (156)
91	EVA	ss5624182101	Oct 16, 2022 (156)
92	SANFORD_IMAGENETICS	ss5646740741	Oct 16, 2022 (156)
93	TOMMO_GENOMICS	ss5734662865	Oct 16, 2022 (156)
94	EVA	ss5800059962	Oct 16, 2022 (156)
95	EVA	ss5800150098	Oct 16, 2022 (156)
96	YY_MCH	ss5810272810	Oct 16, 2022 (156)
97	EVA	ss5828739829	Oct 16, 2022 (156)
98	EVA	ss5848717586	Oct 16, 2022 (156)
99	EVA	ss5856636624	Oct 16, 2022 (156)
100	EVA	ss5915190762	Oct 16, 2022 (156)
101	EVA	ss5976002303	Oct 16, 2022 (156)
102	1000Genomes	NC_000009.11 - 2191309	Oct 12, 2018 (152)
103	1000Genomes_30x	NC_000009.12 - 2191309	Oct 16, 2022 (156)
104	The Avon Longitudinal Study of Parents and Children	NC_000009.11 - 2191309	Oct 12, 2018 (152)
105	Genetic variation in the Estonian population	NC_000009.11 - 2191309	Oct 12, 2018 (152)
106	ExAC	NC_000009.11 - 2191309	Oct 12, 2018 (152)
107	FINRISK	NC_000009.11 - 2191309	Apr 26, 2020 (154)
108	The Danish reference pan genome	NC_000009.11 - 2191309	Apr 26, 2020 (154)
109	gnomAD - Genomes	NC_000009.12 - 2191309	Apr 26, 2021 (155)
110	gnomAD - Exomes	NC_000009.11 - 2191309	Jul 13, 2019 (153)
111	GO Exome Sequencing Project	NC_000009.11 - 2191309	Oct 12, 2018 (152)
112	Genome of the Netherlands Release 5	NC_000009.11 - 2191309	Apr 26, 2020 (154)
113	HapMap	NC_000009.12 - 2191309	Apr 26, 2020 (154)
114	KOREAN population from KRGDB	NC_000009.11 - 2191309	Apr 26, 2020 (154)
115	Korean Genome Project	NC_000009.12 - 2191309	Apr 26, 2020 (154)
116	Medical Genome Project healthy controls from Spanish population	NC_000009.11 - 2191309	Apr 26, 2020 (154)
117	Northern Sweden	NC_000009.11 - 2191309	Jul 13, 2019 (153)
118	Qatari	NC_000009.11 - 2191309	Apr 26, 2020 (154)
119	SGDP_PRJ	NC_000009.11 - 2191309	Apr 26, 2020 (154)
120	Siberian	NC_000009.11 - 2191309	Apr 26, 2020 (154)
121	8.3KJPN	NC_000009.11 - 2191309	Apr 26, 2021 (155)
122	14KJPN	NC_000009.12 - 2191309	Oct 16, 2022 (156)
123	TopMed	NC_000009.12 - 2191309	Apr 26, 2021 (155)
124	UK 10K study - Twins	NC_000009.11 - 2191309	Oct 12, 2018 (152)
125	A Vietnamese Genetic Variation Database	NC_000009.11 - 2191309	Jul 13, 2019 (153)
126	ALFA	NC_000009.12 - 2191309	Apr 26, 2021 (155)
127	ClinVar	RCV000114292.6	Oct 16, 2022 (156)
128	ClinVar	RCV000298011.4	Oct 16, 2022 (156)
129	ClinVar	RCV000715215.2	Oct 16, 2022 (156)
130	ClinVar	RCV001650946.6	Oct 16, 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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss93995211, ss108522348, ss163675251, ss166026138, ss199988171, ss280069913, ss294270797, ss485765711, ss491932102, ss1595846892, ss2635191201	NC_000009.10:2181308:C:G	NC_000009.12:2191308:C:G	(self)
44780079, 24918378, 17723316, 9515720, 57579, 9116712, 6651066, 869668, 11113675, 26153408, 330339, 9523833, 11544864, 23366425, 6205164, 49684931, 24918378, 5531953, ss224075282, ss234693226, ss241493432, ss342268482, ss483809117, ss490973701, ss491419788, ss561180993, ss655611758, ss782348135, ss974469993, ss986223942, ss1067501885, ss1076043552, ss1332561098, ss1431723501, ss1582951775, ss1584061118, ss1622074351, ss1665068384, ss1689399409, ss1711214579, ss1805840956, ss1929502934, ss2025457767, ss2153688810, ss2627205188, ss2709483316, ss2737474830, ss2748145979, ss2874486566, ss2985453857, ss3004256189, ss3348484469, ss3638795504, ss3646384204, ss3654217802, ss3671985068, ss3736238968, ss3768811671, ss3824411850, ss3825751078, ss3831495093, ss3871349445, ss3918976014, ss3984412384, ss3984412385, ss3986045451, ss3986440284, ss5191715624, ss5315377060, ss5385509569, ss5624182101, ss5646740741, ss5800059962, ss5800150098, ss5828739829, ss5848717586, ss5976002303	NC_000009.11:2191308:C:G	NC_000009.12:2191308:C:G	(self)
RCV000114292.6, RCV000298011.4, RCV000715215.2, RCV001650946.6, 58645943, 315688937, 3758158, 21529752, 68499969, 646957624, 6220561081, ss1457612356, ss2308699078, ss3026516994, ss3723319666, ss3811971113, ss3965151751, ss4809580063, ss5237046906, ss5237652526, ss5279508941, ss5314424817, ss5475820654, ss5571120008, ss5734662865, ss5810272810, ss5856636624, ss5915190762	NC_000009.12:2191308:C:G	NC_000009.12:2191308:C:G	(self)
ss18020623	NT_008413.16:2181308:C:G	NC_000009.12:2191308:C:G	(self)
ss76899464	NT_008413.17:2181308:C:G	NC_000009.12:2191308:C:G	(self)
ss3240243, ss16239441, ss23306176, ss43831476, ss65726703, ss69278863, ss86241017, ss86344061, ss143889396, ss159717896, ss161711391, ss168923382	NT_008413.18:2181308:C:G	NC_000009.12:2191308:C:G	(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 rs2296212

PMID	Title	Author	Year	Journal
19363039	Involvement of SMARCA2/BRM in the SWI/SNF chromatin-remodeling complex in schizophrenia.	Koga M et al.	2009	Human molecular genetics
23276717	SWI/SNF gene variants and glioma risk and outcome.	Amankwah EK et al.	2013	Cancer epidemiology

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

rs2296212