Name: rs7118018
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.

rs7118018

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:103830178 (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>C / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.467388 (123713/264690, TOPMED)
G=0.471702 (66109/140150, GnomAD)
G=0.37688 (10650/28258, 14KJPN) (+ 17 more)
T=0.46958 (11253/23964, ALFA)
G=0.37558 (6294/16758, 8.3KJPN)
G=0.4486 (2873/6404, 1000G_30x)
G=0.4513 (2260/5008, 1000G)
T=0.3879 (1738/4480, Estonian)
T=0.4608 (1776/3854, ALSPAC)
T=0.4666 (1730/3708, TWINSUK)
G=0.3419 (999/2922, KOREAN)
G=0.3837 (726/1892, HapMap)
G=0.3401 (623/1832, Korea1K)
T=0.458 (457/998, GoNL)
T=0.382 (229/600, NorthernSweden)
T=0.320 (124/388, SGDP_PRJ)
G=0.440 (95/216, Qatari)
G=0.336 (72/214, Vietnamese)
T=0.38 (15/40, GENOME_DK)
T=0.39 (14/36, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
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	23964	T=0.46958	G=0.53042
European	Sub	15668	T=0.44020	G=0.55980
African	Sub	3624	T=0.6943	G=0.3057
African Others	Sub	126	T=0.770	G=0.230
African American	Sub	3498	T=0.6915	G=0.3085
Asian	Sub	160	T=0.606	G=0.394
East Asian	Sub	102	T=0.667	G=0.333
Other Asian	Sub	58	T=0.50	G=0.50
Latin American 1	Sub	292	T=0.541	G=0.459
Latin American 2	Sub	2764	T=0.3321	G=0.6679
South Asian	Sub	110	T=0.509	G=0.491
Other	Sub	1346	T=0.4539	G=0.5461

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=0.532612	G=0.467388
gnomAD - Genomes	Global	Study-wide	140150	T=0.528298	G=0.471702
gnomAD - Genomes	European	Sub	75894	T=0.45550	G=0.54450
gnomAD - Genomes	African	Sub	41998	T=0.68846	G=0.31154
gnomAD - Genomes	American	Sub	13654	T=0.42127	G=0.57873
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.4837	G=0.5163
gnomAD - Genomes	East Asian	Sub	3128	T=0.6608	G=0.3392
gnomAD - Genomes	Other	Sub	2154	T=0.5251	G=0.4749
14KJPN	JAPANESE	Study-wide	28258	T=0.62312	G=0.37688
Allele Frequency Aggregator	Total	Global	23964	T=0.46958	G=0.53042
Allele Frequency Aggregator	European	Sub	15668	T=0.44020	G=0.55980
Allele Frequency Aggregator	African	Sub	3624	T=0.6943	G=0.3057
Allele Frequency Aggregator	Latin American 2	Sub	2764	T=0.3321	G=0.6679
Allele Frequency Aggregator	Other	Sub	1346	T=0.4539	G=0.5461
Allele Frequency Aggregator	Latin American 1	Sub	292	T=0.541	G=0.459
Allele Frequency Aggregator	Asian	Sub	160	T=0.606	G=0.394
Allele Frequency Aggregator	South Asian	Sub	110	T=0.509	G=0.491
8.3KJPN	JAPANESE	Study-wide	16758	T=0.62442	G=0.37558
1000Genomes_30x	Global	Study-wide	6404	T=0.5514	G=0.4486
1000Genomes_30x	African	Sub	1786	T=0.7240	G=0.2760
1000Genomes_30x	Europe	Sub	1266	T=0.4597	G=0.5403
1000Genomes_30x	South Asian	Sub	1202	T=0.4351	G=0.5649
1000Genomes_30x	East Asian	Sub	1170	T=0.6385	G=0.3615
1000Genomes_30x	American	Sub	980	T=0.394	G=0.606
1000Genomes	Global	Study-wide	5008	T=0.5487	G=0.4513
1000Genomes	African	Sub	1322	T=0.7254	G=0.2746
1000Genomes	East Asian	Sub	1008	T=0.6300	G=0.3700
1000Genomes	Europe	Sub	1006	T=0.4523	G=0.5477
1000Genomes	South Asian	Sub	978	T=0.435	G=0.565
1000Genomes	American	Sub	694	T=0.395	G=0.605
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.3879	G=0.6121
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.4608	G=0.5392
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.4666	G=0.5334
KOREAN population from KRGDB	KOREAN	Study-wide	2922	T=0.6581	C=0.0000, G=0.3419
HapMap	Global	Study-wide	1892	T=0.6163	G=0.3837
HapMap	American	Sub	770	T=0.496	G=0.504
HapMap	African	Sub	692	T=0.772	G=0.228
HapMap	Asian	Sub	254	T=0.642	G=0.358
HapMap	Europe	Sub	176	T=0.494	G=0.506
Korean Genome Project	KOREAN	Study-wide	1832	T=0.6599	G=0.3401
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.458	G=0.542
Northern Sweden	ACPOP	Study-wide	600	T=0.382	G=0.618
SGDP_PRJ	Global	Study-wide	388	T=0.320	G=0.680
Qatari	Global	Study-wide	216	T=0.560	G=0.440
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.664	G=0.336
The Danish reference pan genome	Danish	Study-wide	40	T=0.38	G=0.62
Siberian	Global	Study-wide	36	T=0.39	G=0.61

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.103830178T>C
GRCh38.p14 chr 11	NC_000011.10:g.103830178T>G
GRCh37.p13 chr 11	NC_000011.9:g.103700906T>C
GRCh37.p13 chr 11	NC_000011.9:g.103700906T>G

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=	C	G
GRCh38.p14 chr 11	NC_000011.10:g.103830178=	NC_000011.10:g.103830178T>C	NC_000011.10:g.103830178T>G
GRCh37.p13 chr 11	NC_000011.9:g.103700906=	NC_000011.9:g.103700906T>C	NC_000011.9:g.103700906T>G

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#.

72 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss10678682	Jul 11, 2003 (116)
2	BCM_SSAHASNP	ss13548246	Dec 05, 2003 (126)
3	SC_SNP	ss18934637	Feb 28, 2004 (123)
4	ABI	ss39953195	Mar 11, 2006 (126)
5	AFFY	ss76828823	Dec 06, 2007 (129)
6	HGSV	ss83460853	Dec 15, 2007 (130)
7	BCMHGSC_JDW	ss88759262	Mar 24, 2008 (129)
8	KRIBB_YJKIM	ss104946374	Feb 05, 2009 (130)
9	1000GENOMES	ss110992192	Jan 25, 2009 (130)
10	ENSEMBL	ss132793391	Dec 01, 2009 (131)
11	COMPLETE_GENOMICS	ss175263728	Jul 04, 2010 (132)
12	BUSHMAN	ss203147647	Jul 04, 2010 (132)
13	BCM-HGSC-SUB	ss207490850	Jul 04, 2010 (132)
14	1000GENOMES	ss225434230	Jul 14, 2010 (132)
15	1000GENOMES	ss235699687	Jul 15, 2010 (132)
16	1000GENOMES	ss242301821	Jul 15, 2010 (132)
17	BL	ss255364897	May 09, 2011 (134)
18	GMI	ss281152665	May 04, 2012 (137)
19	GMI	ss286448012	Apr 25, 2013 (138)
20	PJP	ss291129222	May 09, 2011 (134)
21	TISHKOFF	ss562793073	Apr 25, 2013 (138)
22	SSMP	ss658316212	Apr 25, 2013 (138)
23	EVA-GONL	ss988909133	Aug 21, 2014 (142)
24	JMKIDD_LAB	ss1078005472	Aug 21, 2014 (142)
25	1000GENOMES	ss1342758312	Aug 21, 2014 (142)
26	DDI	ss1426746328	Apr 01, 2015 (144)
27	EVA_GENOME_DK	ss1575922772	Apr 01, 2015 (144)
28	EVA_DECODE	ss1598573133	Apr 01, 2015 (144)
29	EVA_UK10K_ALSPAC	ss1627350018	Apr 01, 2015 (144)
30	EVA_UK10K_TWINSUK	ss1670344051	Apr 01, 2015 (144)
31	EVA_SVP	ss1713281024	Apr 01, 2015 (144)
32	HAMMER_LAB	ss1806974190	Sep 08, 2015 (146)
33	WEILL_CORNELL_DGM	ss1932271310	Feb 12, 2016 (147)
34	GENOMED	ss1967446245	Jul 19, 2016 (147)
35	JJLAB	ss2026880649	Sep 14, 2016 (149)
36	USC_VALOUEV	ss2155192688	Dec 20, 2016 (150)
37	HUMAN_LONGEVITY	ss2185269081	Dec 20, 2016 (150)
38	SYSTEMSBIOZJU	ss2627914356	Nov 08, 2017 (151)
39	GRF	ss2699497982	Nov 08, 2017 (151)
40	GNOMAD	ss2903866553	Nov 08, 2017 (151)
41	SWEGEN	ss3008698963	Nov 08, 2017 (151)
42	BIOINF_KMB_FNS_UNIBA	ss3027239700	Nov 08, 2017 (151)
43	CSHL	ss3349772084	Nov 08, 2017 (151)
44	URBANLAB	ss3649693477	Oct 12, 2018 (152)
45	EGCUT_WGS	ss3676021250	Jul 13, 2019 (153)
46	EVA_DECODE	ss3692499670	Jul 13, 2019 (153)
47	ACPOP	ss3738497630	Jul 13, 2019 (153)
48	EVA	ss3749748257	Jul 13, 2019 (153)
49	PACBIO	ss3787054014	Jul 13, 2019 (153)
50	PACBIO	ss3792180500	Jul 13, 2019 (153)
51	PACBIO	ss3797063024	Jul 13, 2019 (153)
52	KHV_HUMAN_GENOMES	ss3815081562	Jul 13, 2019 (153)
53	EVA	ss3832814130	Apr 26, 2020 (154)
54	EVA	ss3839968958	Apr 26, 2020 (154)
55	EVA	ss3845450232	Apr 26, 2020 (154)
56	SGDP_PRJ	ss3877033024	Apr 26, 2020 (154)
57	KRGDB	ss3925475938	Apr 26, 2020 (154)
58	KOGIC	ss3970648313	Apr 26, 2020 (154)
59	TOPMED	ss4898126237	Apr 26, 2021 (155)
60	TOMMO_GENOMICS	ss5203658987	Apr 26, 2021 (155)
61	1000G_HIGH_COVERAGE	ss5288722446	Oct 16, 2022 (156)
62	HUGCELL_USP	ss5483728657	Oct 16, 2022 (156)
63	EVA	ss5510500971	Oct 16, 2022 (156)
64	1000G_HIGH_COVERAGE	ss5585114595	Oct 16, 2022 (156)
65	SANFORD_IMAGENETICS	ss5651971390	Oct 16, 2022 (156)
66	TOMMO_GENOMICS	ss5752040044	Oct 16, 2022 (156)
67	YY_MCH	ss5812734843	Oct 16, 2022 (156)
68	EVA	ss5837159036	Oct 16, 2022 (156)
69	EVA	ss5850130042	Oct 16, 2022 (156)
70	EVA	ss5921447595	Oct 16, 2022 (156)
71	EVA	ss5943294151	Oct 16, 2022 (156)
72	EVA	ss5980699792	Oct 16, 2022 (156)
73	1000Genomes	NC_000011.9 - 103700906	Oct 12, 2018 (152)
74	1000Genomes_30x	NC_000011.10 - 103830178	Oct 16, 2022 (156)
75	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 103700906	Oct 12, 2018 (152)
76	Genetic variation in the Estonian population	NC_000011.9 - 103700906	Oct 12, 2018 (152)
77	The Danish reference pan genome	NC_000011.9 - 103700906	Apr 26, 2020 (154)
78	gnomAD - Genomes	NC_000011.10 - 103830178	Apr 26, 2021 (155)
79	Genome of the Netherlands Release 5	NC_000011.9 - 103700906	Apr 26, 2020 (154)
80	HapMap	NC_000011.10 - 103830178	Apr 26, 2020 (154)
81	KOREAN population from KRGDB	NC_000011.9 - 103700906	Apr 26, 2020 (154)
82	Korean Genome Project	NC_000011.10 - 103830178	Apr 26, 2020 (154)
83	Northern Sweden	NC_000011.9 - 103700906	Jul 13, 2019 (153)
84	Qatari	NC_000011.9 - 103700906	Apr 26, 2020 (154)
85	SGDP_PRJ	NC_000011.9 - 103700906	Apr 26, 2020 (154)
86	Siberian	NC_000011.9 - 103700906	Apr 26, 2020 (154)
87	8.3KJPN	NC_000011.9 - 103700906	Apr 26, 2021 (155)
88	14KJPN	NC_000011.10 - 103830178	Oct 16, 2022 (156)
89	TopMed	NC_000011.10 - 103830178	Apr 26, 2021 (155)
90	UK 10K study - Twins	NC_000011.9 - 103700906	Oct 12, 2018 (152)
91	A Vietnamese Genetic Variation Database	NC_000011.9 - 103700906	Jul 13, 2019 (153)
92	ALFA	NC_000011.10 - 103830178	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)
rs9735924	Mar 11, 2006 (126)
rs12363649	Oct 08, 2004 (123)
rs58441693	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
32653332, ss3925475938	NC_000011.9:103700905:T:C	NC_000011.10:103830177:T:C	(self)
ss76828823, ss83460853, ss88759262, ss110992192, ss175263728, ss203147647, ss207490850, ss255364897, ss281152665, ss286448012, ss291129222, ss1598573133, ss1713281024	NC_000011.8:103206115:T:G	NC_000011.10:103830177:T:G	(self)
55332736, 30708173, 21759498, 2715225, 13707229, 32653332, 11782495, 14313240, 29050004, 7709042, 61628294, 30708173, 6816286, ss225434230, ss235699687, ss242301821, ss562793073, ss658316212, ss988909133, ss1078005472, ss1342758312, ss1426746328, ss1575922772, ss1627350018, ss1670344051, ss1806974190, ss1932271310, ss1967446245, ss2026880649, ss2155192688, ss2627914356, ss2699497982, ss2903866553, ss3008698963, ss3349772084, ss3676021250, ss3738497630, ss3749748257, ss3787054014, ss3792180500, ss3797063024, ss3832814130, ss3839968958, ss3877033024, ss3925475938, ss5203658987, ss5510500971, ss5651971390, ss5837159036, ss5943294151, ss5980699792	NC_000011.9:103700905:T:G	NC_000011.10:103830177:T:G	(self)
72640530, 390444864, 687428, 27026314, 85877148, 113671893, 6972572736, ss2185269081, ss3027239700, ss3649693477, ss3692499670, ss3815081562, ss3845450232, ss3970648313, ss4898126237, ss5288722446, ss5483728657, ss5585114595, ss5752040044, ss5812734843, ss5850130042, ss5921447595	NC_000011.10:103830177:T:G	NC_000011.10:103830177:T:G	(self)
ss10678682	NT_033899.5:7244746:T:G	NC_000011.10:103830177:T:G	(self)
ss13548246, ss18934637	NT_033899.6:7244757:T:G	NC_000011.10:103830177:T:G	(self)
ss39953195, ss104946374, ss132793391	NT_033899.8:7263321:T:G	NC_000011.10:103830177: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 rs7118018

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

rs7118018