Name: rs7120198
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.

rs7120198

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:112342407 (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 / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.094065 (24898/264690, TOPMED)
G=0.093020 (13045/140238, GnomAD)
G=0.08474 (6669/78696, PAGE_STUDY) (+ 20 more)
G=0.01992 (563/28258, 14KJPN)
G=0.03935 (666/16924, ALFA)
G=0.02059 (345/16758, 8.3KJPN)
G=0.0954 (611/6404, 1000G_30x)
G=0.0948 (475/5008, 1000G)
G=0.0717 (321/4480, Estonian)
G=0.0861 (332/3854, ALSPAC)
G=0.0755 (280/3708, TWINSUK)
G=0.0144 (42/2922, KOREAN)
G=0.0946 (179/1892, HapMap)
G=0.0202 (37/1832, Korea1K)
G=0.067 (67/998, GoNL)
G=0.040 (24/600, NorthernSweden)
G=0.194 (42/216, Qatari)
G=0.037 (8/216, Vietnamese)
C=0.50 (34/68, SGDP_PRJ)
G=0.50 (34/68, SGDP_PRJ)
G=0.05 (2/40, GENOME_DK)
C=0.5 (4/8, Siberian)
G=0.5 (4/8, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LINC02762 : Intron Variant
LOC107984388 : 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	16924	C=0.96065	G=0.03935, T=0.00000
European	Sub	13082	C=0.95658	G=0.04342, T=0.00000
African	Sub	2398	C=0.9725	G=0.0275, T=0.0000
African Others	Sub	90	C=0.94	G=0.06, T=0.00
African American	Sub	2308	C=0.9736	G=0.0264, T=0.0000
Asian	Sub	106	C=1.000	G=0.000, T=0.000
East Asian	Sub	80	C=1.00	G=0.00, T=0.00
Other Asian	Sub	26	C=1.00	G=0.00, T=0.00
Latin American 1	Sub	118	C=1.000	G=0.000, T=0.000
Latin American 2	Sub	552	C=1.000	G=0.000, T=0.000
South Asian	Sub	72	C=0.99	G=0.01, T=0.00
Other	Sub	596	C=0.948	G=0.052, T=0.000

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=0.905935	G=0.094065
gnomAD - Genomes	Global	Study-wide	140238	C=0.906980	G=0.093020
gnomAD - Genomes	European	Sub	75946	C=0.91723	G=0.08277
gnomAD - Genomes	African	Sub	42028	C=0.88627	G=0.11373
gnomAD - Genomes	American	Sub	13660	C=0.91837	G=0.08163
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.8149	G=0.1851
gnomAD - Genomes	East Asian	Sub	3132	C=0.9844	G=0.0156
gnomAD - Genomes	Other	Sub	2150	C=0.9070	G=0.0930
The PAGE Study	Global	Study-wide	78696	C=0.91526	G=0.08474
The PAGE Study	AfricanAmerican	Sub	32516	C=0.88910	G=0.11090
The PAGE Study	Mexican	Sub	10808	C=0.94569	G=0.05431
The PAGE Study	Asian	Sub	8318	C=0.9740	G=0.0260
The PAGE Study	PuertoRican	Sub	7918	C=0.8977	G=0.1023
The PAGE Study	NativeHawaiian	Sub	4534	C=0.9687	G=0.0313
The PAGE Study	Cuban	Sub	4228	C=0.8947	G=0.1053
The PAGE Study	Dominican	Sub	3828	C=0.9023	G=0.0977
The PAGE Study	CentralAmerican	Sub	2450	C=0.9396	G=0.0604
The PAGE Study	SouthAmerican	Sub	1982	C=0.9309	G=0.0691
The PAGE Study	NativeAmerican	Sub	1260	C=0.9310	G=0.0690
The PAGE Study	SouthAsian	Sub	854	C=0.863	G=0.137
14KJPN	JAPANESE	Study-wide	28258	C=0.98008	G=0.01992
Allele Frequency Aggregator	Total	Global	16924	C=0.96065	G=0.03935, T=0.00000
Allele Frequency Aggregator	European	Sub	13082	C=0.95658	G=0.04342, T=0.00000
Allele Frequency Aggregator	African	Sub	2398	C=0.9725	G=0.0275, T=0.0000
Allele Frequency Aggregator	Other	Sub	596	C=0.948	G=0.052, T=0.000
Allele Frequency Aggregator	Latin American 2	Sub	552	C=1.000	G=0.000, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	118	C=1.000	G=0.000, T=0.000
Allele Frequency Aggregator	Asian	Sub	106	C=1.000	G=0.000, T=0.000
Allele Frequency Aggregator	South Asian	Sub	72	C=0.99	G=0.01, T=0.00
8.3KJPN	JAPANESE	Study-wide	16758	C=0.97941	G=0.02059
1000Genomes_30x	Global	Study-wide	6404	C=0.9046	G=0.0954
1000Genomes_30x	African	Sub	1786	C=0.8835	G=0.1165
1000Genomes_30x	Europe	Sub	1266	C=0.9147	G=0.0853
1000Genomes_30x	South Asian	Sub	1202	C=0.8386	G=0.1614
1000Genomes_30x	East Asian	Sub	1170	C=0.9667	G=0.0333
1000Genomes_30x	American	Sub	980	C=0.937	G=0.063
1000Genomes	Global	Study-wide	5008	C=0.9052	G=0.0948
1000Genomes	African	Sub	1322	C=0.8873	G=0.1127
1000Genomes	East Asian	Sub	1008	C=0.9683	G=0.0317
1000Genomes	Europe	Sub	1006	C=0.9066	G=0.0934
1000Genomes	South Asian	Sub	978	C=0.842	G=0.158
1000Genomes	American	Sub	694	C=0.935	G=0.065
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9283	G=0.0717
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9139	G=0.0861
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9245	G=0.0755
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=0.9856	G=0.0144
HapMap	Global	Study-wide	1892	C=0.9054	G=0.0946
HapMap	American	Sub	770	C=0.918	G=0.082
HapMap	African	Sub	692	C=0.877	G=0.123
HapMap	Asian	Sub	254	C=0.972	G=0.028
HapMap	Europe	Sub	176	C=0.864	G=0.136
Korean Genome Project	KOREAN	Study-wide	1832	C=0.9798	G=0.0202
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.933	G=0.067
Northern Sweden	ACPOP	Study-wide	600	C=0.960	G=0.040
Qatari	Global	Study-wide	216	C=0.806	G=0.194
A Vietnamese Genetic Variation Database	Global	Study-wide	216	C=0.963	G=0.037
SGDP_PRJ	Global	Study-wide	68	C=0.50	G=0.50
The Danish reference pan genome	Danish	Study-wide	40	C=0.95	G=0.05
Siberian	Global	Study-wide	8	C=0.5	G=0.5

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 11	NC_000011.10:g.112342407C>G
GRCh38.p14 chr 11	NC_000011.10:g.112342407C>T
GRCh37.p13 chr 11	NC_000011.9:g.112213130C>G
GRCh37.p13 chr 11	NC_000011.9:g.112213130C>T

Gene: LINC02762, long intergenic non-protein coding RNA 2762 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LINC02762 transcript	NR_126004.1:n.	N/A	Intron Variant

Gene: LOC107984388, uncharacterized LOC107984388 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC107984388 transcript	XR_001748386.1: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.

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=	G	T
GRCh38.p14 chr 11	NC_000011.10:g.112342407=	NC_000011.10:g.112342407C>G	NC_000011.10:g.112342407C>T
GRCh37.p13 chr 11	NC_000011.9:g.112213130=	NC_000011.9:g.112213130C>G	NC_000011.9:g.112213130C>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#.

66 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss10683032	Jul 11, 2003 (116)
2	SSAHASNP	ss20747492	Apr 05, 2004 (121)
3	ABI	ss39968004	Mar 13, 2006 (126)
4	AFFY	ss76641618	Dec 07, 2007 (129)
5	HGSV	ss83713042	Dec 15, 2007 (130)
6	HUMANGENOME_JCVI	ss97511930	Feb 06, 2009 (130)
7	KRIBB_YJKIM	ss104946447	Feb 06, 2009 (130)
8	1000GENOMES	ss115185386	Jan 25, 2009 (130)
9	ENSEMBL	ss137854650	Dec 01, 2009 (131)
10	COMPLETE_GENOMICS	ss170897639	Jul 04, 2010 (132)
11	BUSHMAN	ss203217796	Jul 04, 2010 (132)
12	1000GENOMES	ss225465252	Jul 14, 2010 (132)
13	1000GENOMES	ss235721707	Jul 15, 2010 (132)
14	1000GENOMES	ss242318977	Jul 15, 2010 (132)
15	PJP	ss291141169	May 09, 2011 (134)
16	TISHKOFF	ss562830351	Apr 25, 2013 (138)
17	SSMP	ss658353112	Apr 25, 2013 (138)
18	EVA-GONL	ss988970365	Aug 21, 2014 (142)
19	JMKIDD_LAB	ss1078050553	Aug 21, 2014 (142)
20	1000GENOMES	ss1342993438	Aug 21, 2014 (142)
21	DDI	ss1426763193	Apr 01, 2015 (144)
22	EVA_GENOME_DK	ss1575957249	Apr 01, 2015 (144)
23	EVA_DECODE	ss1598635687	Apr 01, 2015 (144)
24	EVA_UK10K_ALSPAC	ss1627476865	Apr 01, 2015 (144)
25	EVA_UK10K_TWINSUK	ss1670470898	Apr 01, 2015 (144)
26	EVA_SVP	ss1713285168	Apr 01, 2015 (144)
27	HAMMER_LAB	ss1807000291	Sep 08, 2015 (146)
28	WEILL_CORNELL_DGM	ss1932331427	Feb 12, 2016 (147)
29	ILLUMINA	ss1959385923	Feb 12, 2016 (147)
30	JJLAB	ss2026909675	Sep 14, 2016 (149)
31	ILLUMINA	ss2095026245	Dec 20, 2016 (150)
32	USC_VALOUEV	ss2155222235	Dec 20, 2016 (150)
33	HUMAN_LONGEVITY	ss2185765131	Dec 20, 2016 (150)
34	GRF	ss2699531645	Nov 08, 2017 (151)
35	GNOMAD	ss2904541083	Nov 08, 2017 (151)
36	SWEGEN	ss3008791804	Nov 08, 2017 (151)
37	ILLUMINA	ss3021376555	Nov 08, 2017 (151)
38	BIOINF_KMB_FNS_UNIBA	ss3027255301	Nov 08, 2017 (151)
39	CSHL	ss3349798192	Nov 08, 2017 (151)
40	URBANLAB	ss3649706841	Oct 12, 2018 (152)
41	ILLUMINA	ss3651744055	Oct 12, 2018 (152)
42	EGCUT_WGS	ss3676118235	Jul 13, 2019 (153)
43	EVA_DECODE	ss3692612798	Jul 13, 2019 (153)
44	ILLUMINA	ss3725276838	Jul 13, 2019 (153)
45	ACPOP	ss3738546330	Jul 13, 2019 (153)
46	EVA	ss3749819684	Jul 13, 2019 (153)
47	PAGE_CC	ss3771652884	Jul 13, 2019 (153)
48	KHV_HUMAN_GENOMES	ss3815151074	Jul 13, 2019 (153)
49	EVA	ss3832842559	Apr 26, 2020 (154)
50	SGDP_PRJ	ss3877152082	Apr 26, 2020 (154)
51	KRGDB	ss3925609015	Apr 26, 2020 (154)
52	KOGIC	ss3970760932	Apr 26, 2020 (154)
53	TOPMED	ss4900231062	Apr 26, 2021 (155)
54	TOMMO_GENOMICS	ss5203922986	Apr 26, 2021 (155)
55	1000G_HIGH_COVERAGE	ss5288927344	Oct 16, 2022 (156)
56	EVA	ss5402287827	Oct 16, 2022 (156)
57	HUGCELL_USP	ss5483913108	Oct 16, 2022 (156)
58	1000G_HIGH_COVERAGE	ss5585424996	Oct 16, 2022 (156)
59	SANFORD_IMAGENETICS	ss5652087137	Oct 16, 2022 (156)
60	TOMMO_GENOMICS	ss5752380327	Oct 16, 2022 (156)
61	YY_MCH	ss5812782757	Oct 16, 2022 (156)
62	EVA	ss5837238944	Oct 16, 2022 (156)
63	EVA	ss5850153810	Oct 16, 2022 (156)
64	EVA	ss5921685178	Oct 16, 2022 (156)
65	EVA	ss5943415671	Oct 16, 2022 (156)
66	EVA	ss5980703127	Oct 16, 2022 (156)
67	1000Genomes	NC_000011.9 - 112213130	Oct 12, 2018 (152)
68	1000Genomes_30x	NC_000011.10 - 112342407	Oct 16, 2022 (156)
69	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 112213130	Oct 12, 2018 (152)
70	Genetic variation in the Estonian population	NC_000011.9 - 112213130	Oct 12, 2018 (152)
71	The Danish reference pan genome	NC_000011.9 - 112213130	Apr 26, 2020 (154)
72	gnomAD - Genomes	NC_000011.10 - 112342407	Apr 26, 2021 (155)
73	Genome of the Netherlands Release 5	NC_000011.9 - 112213130	Apr 26, 2020 (154)
74	HapMap	NC_000011.10 - 112342407	Apr 26, 2020 (154)
75	KOREAN population from KRGDB	NC_000011.9 - 112213130	Apr 26, 2020 (154)
76	Korean Genome Project	NC_000011.10 - 112342407	Apr 26, 2020 (154)
77	Northern Sweden	NC_000011.9 - 112213130	Jul 13, 2019 (153)
78	The PAGE Study	NC_000011.10 - 112342407	Jul 13, 2019 (153)
79	Qatari	NC_000011.9 - 112213130	Apr 26, 2020 (154)
80	SGDP_PRJ	NC_000011.9 - 112213130	Apr 26, 2020 (154)
81	Siberian	NC_000011.9 - 112213130	Apr 26, 2020 (154)
82	8.3KJPN	NC_000011.9 - 112213130	Apr 26, 2021 (155)
83	14KJPN	NC_000011.10 - 112342407	Oct 16, 2022 (156)
84	TopMed	NC_000011.10 - 112342407	Apr 26, 2021 (155)
85	UK 10K study - Twins	NC_000011.9 - 112213130	Oct 12, 2018 (152)
86	A Vietnamese Genetic Variation Database	NC_000011.9 - 112213130	Jul 13, 2019 (153)
87	ALFA	NC_000011.10 - 112342407	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)
rs60365419	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss76641618, ss83713042, ss115185386, ss170897639, ss203217796, ss291141169, ss1598635687, ss1713285168	NC_000011.8:111718339:C:G	NC_000011.10:112342406:C:G	(self)
55576900, 30847828, 21856483, 2738332, 13767052, 32786409, 11831195, 14373357, 29169062, 7738589, 61892293, 30847828, 6846164, ss225465252, ss235721707, ss242318977, ss562830351, ss658353112, ss988970365, ss1078050553, ss1342993438, ss1426763193, ss1575957249, ss1627476865, ss1670470898, ss1807000291, ss1932331427, ss1959385923, ss2026909675, ss2095026245, ss2155222235, ss2699531645, ss2904541083, ss3008791804, ss3021376555, ss3349798192, ss3651744055, ss3676118235, ss3738546330, ss3749819684, ss3832842559, ss3877152082, ss3925609015, ss5203922986, ss5402287827, ss5652087137, ss5837238944, ss5943415671, ss5980703127	NC_000011.9:112213129:C:G	NC_000011.10:112342406:C:G	(self)
72950931, 392179557, 700402, 27138933, 874353, 86217431, 115776718, 11835669274, ss2185765131, ss3027255301, ss3649706841, ss3692612798, ss3725276838, ss3771652884, ss3815151074, ss3970760932, ss4900231062, ss5288927344, ss5483913108, ss5585424996, ss5752380327, ss5812782757, ss5850153810, ss5921685178	NC_000011.10:112342406:C:G	NC_000011.10:112342406:C:G	(self)
ss10683032	NT_033899.5:15756795:C:G	NC_000011.10:112342406:C:G	(self)
ss20747492	NT_033899.6:15756913:C:G	NC_000011.10:112342406:C:G	(self)
ss39968004, ss97511930, ss104946447, ss137854650	NT_033899.8:15775545:C:G	NC_000011.10:112342406:C:G	(self)
11835669274	NC_000011.10:112342406:C:T	NC_000011.10:112342406:C:T	(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 rs7120198

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

rs7120198