Name: rs11034653
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.

rs11034653

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:38267043 (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=0.097333 (25763/264690, TOPMED)
T=0.092734 (12983/140002, GnomAD)
T=0.019795 (2655/134122, ALFA) (+ 20 more)
T=0.14277 (11236/78698, PAGE_STUDY)
T=0.00924 (261/28258, 14KJPN)
T=0.00973 (163/16758, 8.3KJPN)
T=0.1141 (731/6404, 1000G_30x)
T=0.1052 (527/5008, 1000G)
T=0.0049 (22/4480, Estonian)
T=0.0042 (16/3854, ALSPAC)
T=0.0032 (12/3708, TWINSUK)
T=0.0171 (50/2922, KOREAN)
T=0.0557 (116/2084, HGDP_Stanford)
T=0.0136 (25/1832, Korea1K)
T=0.1803 (287/1592, HapMap)
T=0.001 (1/998, GoNL)
T=0.032 (25/790, PRJEB37584)
T=0.037 (8/216, Qatari)
T=0.024 (5/212, Vietnamese)
C=0.41 (27/66, SGDP_PRJ)
T=0.05 (2/44, Ancient Sardinia)
C=0.5 (1/2, Siberian)
T=0.5 (1/2, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LOC105376634 : 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	134122	C=0.980205	T=0.019795
European	Sub	114244	C=0.994188	T=0.005812
African	Sub	5808	C=0.7169	T=0.2831
African Others	Sub	224	C=0.629	T=0.371
African American	Sub	5584	C=0.7205	T=0.2795
Asian	Sub	3384	C=0.9796	T=0.0204
East Asian	Sub	2742	C=0.9759	T=0.0241
Other Asian	Sub	642	C=0.995	T=0.005
Latin American 1	Sub	544	C=0.936	T=0.064
Latin American 2	Sub	1550	C=0.9819	T=0.0181
South Asian	Sub	5138	C=0.9926	T=0.0074
Other	Sub	3454	C=0.9488	T=0.0512

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=0.902667	T=0.097333
gnomAD - Genomes	Global	Study-wide	140002	C=0.907266	T=0.092734
gnomAD - Genomes	European	Sub	75884	C=0.99466	T=0.00534
gnomAD - Genomes	African	Sub	41896	C=0.71613	T=0.28387
gnomAD - Genomes	American	Sub	13630	C=0.97036	T=0.02964
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	C=0.9913	T=0.0087
gnomAD - Genomes	East Asian	Sub	3132	C=0.9735	T=0.0265
gnomAD - Genomes	Other	Sub	2142	C=0.9211	T=0.0789
Allele Frequency Aggregator	Total	Global	134122	C=0.980205	T=0.019795
Allele Frequency Aggregator	European	Sub	114244	C=0.994188	T=0.005812
Allele Frequency Aggregator	African	Sub	5808	C=0.7169	T=0.2831
Allele Frequency Aggregator	South Asian	Sub	5138	C=0.9926	T=0.0074
Allele Frequency Aggregator	Other	Sub	3454	C=0.9488	T=0.0512
Allele Frequency Aggregator	Asian	Sub	3384	C=0.9796	T=0.0204
Allele Frequency Aggregator	Latin American 2	Sub	1550	C=0.9819	T=0.0181
Allele Frequency Aggregator	Latin American 1	Sub	544	C=0.936	T=0.064
The PAGE Study	Global	Study-wide	78698	C=0.85723	T=0.14277
The PAGE Study	AfricanAmerican	Sub	32514	C=0.71871	T=0.28129
The PAGE Study	Mexican	Sub	10810	C=0.97983	T=0.02017
The PAGE Study	Asian	Sub	8318	C=0.9846	T=0.0154
The PAGE Study	PuertoRican	Sub	7918	C=0.9177	T=0.0823
The PAGE Study	NativeHawaiian	Sub	4534	C=0.9903	T=0.0097
The PAGE Study	Cuban	Sub	4230	C=0.9513	T=0.0487
The PAGE Study	Dominican	Sub	3828	C=0.8433	T=0.1567
The PAGE Study	CentralAmerican	Sub	2450	C=0.9461	T=0.0539
The PAGE Study	SouthAmerican	Sub	1982	C=0.9733	T=0.0267
The PAGE Study	NativeAmerican	Sub	1260	C=0.9587	T=0.0413
The PAGE Study	SouthAsian	Sub	854	C=0.994	T=0.006
14KJPN	JAPANESE	Study-wide	28258	C=0.99076	T=0.00924
8.3KJPN	JAPANESE	Study-wide	16758	C=0.99027	T=0.00973
1000Genomes_30x	Global	Study-wide	6404	C=0.8859	T=0.1141
1000Genomes_30x	African	Sub	1786	C=0.6400	T=0.3600
1000Genomes_30x	Europe	Sub	1266	C=0.9945	T=0.0055
1000Genomes_30x	South Asian	Sub	1202	C=0.9900	T=0.0100
1000Genomes_30x	East Asian	Sub	1170	C=0.9709	T=0.0291
1000Genomes_30x	American	Sub	980	C=0.964	T=0.036
1000Genomes	Global	Study-wide	5008	C=0.8948	T=0.1052
1000Genomes	African	Sub	1322	C=0.6528	T=0.3472
1000Genomes	East Asian	Sub	1008	C=0.9712	T=0.0288
1000Genomes	Europe	Sub	1006	C=0.9950	T=0.0050
1000Genomes	South Asian	Sub	978	C=0.991	T=0.009
1000Genomes	American	Sub	694	C=0.964	T=0.036
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9951	T=0.0049
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9958	T=0.0042
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9968	T=0.0032
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=0.9829	T=0.0171
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.9443	T=0.0557
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.983	T=0.017
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.986	T=0.014
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.966	T=0.034
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.994	T=0.006
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.636	T=0.364
HGDP-CEPH-db Supplement 1	America	Sub	216	C=1.000	T=0.000
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=1.00	T=0.00
Korean Genome Project	KOREAN	Study-wide	1832	C=0.9864	T=0.0136
HapMap	Global	Study-wide	1592	C=0.8197	T=0.1803
HapMap	African	Sub	680	C=0.638	T=0.362
HapMap	American	Sub	484	C=0.930	T=0.070
HapMap	Asian	Sub	252	C=0.980	T=0.020
HapMap	Europe	Sub	176	C=0.989	T=0.011
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.999	T=0.001
CNV burdens in cranial meningiomas	Global	Study-wide	790	C=0.968	T=0.032
CNV burdens in cranial meningiomas	CRM	Sub	790	C=0.968	T=0.032
Qatari	Global	Study-wide	216	C=0.963	T=0.037
A Vietnamese Genetic Variation Database	Global	Study-wide	212	C=0.976	T=0.024
SGDP_PRJ	Global	Study-wide	66	C=0.41	T=0.59
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	44	C=0.95	T=0.05
Siberian	Global	Study-wide	2	C=0.5	T=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.38267043C>T
GRCh37.p13 chr 11	NC_000011.9:g.38288593C>T

Gene: LOC105376634, uncharacterized LOC105376634 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105376634 transcript	XR_931202.2: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=	T
GRCh38.p14 chr 11	NC_000011.10:g.38267043=	NC_000011.10:g.38267043C>T
GRCh37.p13 chr 11	NC_000011.9:g.38288593=	NC_000011.9:g.38288593C>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#.

77 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss15605028	Feb 27, 2004 (120)
2	SC_SNP	ss18732187	Feb 27, 2004 (120)
3	ILLUMINA	ss66916567	Dec 02, 2006 (127)
4	ILLUMINA	ss67055931	Dec 02, 2006 (127)
5	ILLUMINA	ss68098222	Dec 12, 2006 (127)
6	ILLUMINA	ss70514317	May 25, 2008 (130)
7	ILLUMINA	ss71042296	May 18, 2007 (127)
8	ILLUMINA	ss75504156	Dec 06, 2007 (129)
9	KRIBB_YJKIM	ss85054901	Dec 15, 2007 (130)
10	1000GENOMES	ss114494891	Jan 25, 2009 (130)
11	ILLUMINA	ss152909871	Dec 01, 2009 (131)
12	ILLUMINA	ss159159819	Dec 01, 2009 (131)
13	COMPLETE_GENOMICS	ss169691216	Jul 04, 2010 (132)
14	ILLUMINA	ss170945643	Jul 04, 2010 (132)
15	BUSHMAN	ss202606670	Jul 04, 2010 (132)
16	1000GENOMES	ss225202603	Jul 14, 2010 (132)
17	GMI	ss280965974	May 04, 2012 (137)
18	ILLUMINA	ss536666058	Sep 08, 2015 (146)
19	TISHKOFF	ss562512777	Apr 25, 2013 (138)
20	ILLUMINA	ss832672404	Jul 13, 2019 (153)
21	EVA-GONL	ss988424702	Aug 21, 2014 (142)
22	JMKIDD_LAB	ss1077661469	Aug 21, 2014 (142)
23	1000GENOMES	ss1340903645	Aug 21, 2014 (142)
24	EVA_DECODE	ss1598101505	Apr 01, 2015 (144)
25	EVA_UK10K_ALSPAC	ss1626408864	Apr 01, 2015 (144)
26	EVA_UK10K_TWINSUK	ss1669402897	Apr 01, 2015 (144)
27	EVA_SVP	ss1713249768	Apr 01, 2015 (144)
28	HAMMER_LAB	ss1806783960	Sep 08, 2015 (146)
29	WEILL_CORNELL_DGM	ss1931782700	Feb 12, 2016 (147)
30	ILLUMINA	ss1946307634	Feb 12, 2016 (147)
31	ILLUMINA	ss1959341732	Feb 12, 2016 (147)
32	USC_VALOUEV	ss2154929148	Dec 20, 2016 (150)
33	HUMAN_LONGEVITY	ss2181809378	Dec 20, 2016 (150)
34	ILLUMINA	ss2632826837	Nov 08, 2017 (151)
35	GRF	ss2699210477	Nov 08, 2017 (151)
36	ILLUMINA	ss2710733761	Nov 08, 2017 (151)
37	GNOMAD	ss2898540793	Nov 08, 2017 (151)
38	SWEGEN	ss3007918294	Nov 08, 2017 (151)
39	ILLUMINA	ss3021327110	Nov 08, 2017 (151)
40	ILLUMINA	ss3625599809	Oct 12, 2018 (152)
41	ILLUMINA	ss3626643572	Oct 12, 2018 (152)
42	ILLUMINA	ss3637902586	Oct 12, 2018 (152)
43	ILLUMINA	ss3638966647	Oct 12, 2018 (152)
44	ILLUMINA	ss3639794582	Oct 12, 2018 (152)
45	ILLUMINA	ss3642901382	Oct 12, 2018 (152)
46	ILLUMINA	ss3643846769	Oct 12, 2018 (152)
47	ILLUMINA	ss3644560462	Oct 12, 2018 (152)
48	ILLUMINA	ss3651690631	Oct 12, 2018 (152)
49	EGCUT_WGS	ss3675325640	Jul 13, 2019 (153)
50	EVA_DECODE	ss3691604823	Jul 13, 2019 (153)
51	ILLUMINA	ss3725233765	Jul 13, 2019 (153)
52	ILLUMINA	ss3744083900	Jul 13, 2019 (153)
53	EVA	ss3749186262	Jul 13, 2019 (153)
54	PAGE_CC	ss3771619159	Jul 13, 2019 (153)
55	KHV_HUMAN_GENOMES	ss3814535152	Jul 13, 2019 (153)
56	EVA	ss3832584818	Apr 26, 2020 (154)
57	HGDP	ss3847416589	Apr 26, 2020 (154)
58	SGDP_PRJ	ss3876060296	Apr 26, 2020 (154)
59	KRGDB	ss3924321354	Apr 26, 2020 (154)
60	KOGIC	ss3969589325	Apr 26, 2020 (154)
61	EVA	ss3984649478	Apr 26, 2021 (155)
62	EVA	ss3985530957	Apr 26, 2021 (155)
63	EVA	ss4017534191	Apr 26, 2021 (155)
64	TOPMED	ss4882054332	Apr 26, 2021 (155)
65	TOMMO_GENOMICS	ss5201558945	Apr 26, 2021 (155)
66	1000G_HIGH_COVERAGE	ss5287085640	Oct 16, 2022 (156)
67	EVA	ss5398992806	Oct 16, 2022 (156)
68	HUGCELL_USP	ss5482319846	Oct 16, 2022 (156)
69	EVA	ss5510329242	Oct 16, 2022 (156)
70	1000G_HIGH_COVERAGE	ss5582569911	Oct 16, 2022 (156)
71	SANFORD_IMAGENETICS	ss5624273119	Oct 16, 2022 (156)
72	SANFORD_IMAGENETICS	ss5651034459	Oct 16, 2022 (156)
73	TOMMO_GENOMICS	ss5748560890	Oct 16, 2022 (156)
74	YY_MCH	ss5812303426	Oct 16, 2022 (156)
75	EVA	ss5836533457	Oct 16, 2022 (156)
76	EVA	ss5919618896	Oct 16, 2022 (156)
77	EVA	ss5942350799	Oct 16, 2022 (156)
78	1000Genomes	NC_000011.9 - 38288593	Oct 12, 2018 (152)
79	1000Genomes_30x	NC_000011.10 - 38267043	Oct 16, 2022 (156)
80	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 38288593	Oct 12, 2018 (152)
81	Genetic variation in the Estonian population	NC_000011.9 - 38288593	Oct 12, 2018 (152)
82	gnomAD - Genomes	NC_000011.10 - 38267043	Apr 26, 2021 (155)
83	Genome of the Netherlands Release 5	NC_000011.9 - 38288593	Apr 26, 2020 (154)
84	HGDP-CEPH-db Supplement 1	NC_000011.8 - 38245169	Apr 26, 2020 (154)
85	HapMap	NC_000011.10 - 38267043	Apr 26, 2020 (154)
86	KOREAN population from KRGDB	NC_000011.9 - 38288593	Apr 26, 2020 (154)
87	Korean Genome Project	NC_000011.10 - 38267043	Apr 26, 2020 (154)
88	The PAGE Study	NC_000011.10 - 38267043	Jul 13, 2019 (153)
89	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000011.9 - 38288593	Apr 26, 2021 (155)
90	CNV burdens in cranial meningiomas	NC_000011.9 - 38288593	Apr 26, 2021 (155)
91	Qatari	NC_000011.9 - 38288593	Apr 26, 2020 (154)
92	SGDP_PRJ	NC_000011.9 - 38288593	Apr 26, 2020 (154)
93	Siberian	NC_000011.9 - 38288593	Apr 26, 2020 (154)
94	8.3KJPN	NC_000011.9 - 38288593	Apr 26, 2021 (155)
95	14KJPN	NC_000011.10 - 38267043	Oct 16, 2022 (156)
96	TopMed	NC_000011.10 - 38267043	Apr 26, 2021 (155)
97	UK 10K study - Twins	NC_000011.9 - 38288593	Oct 12, 2018 (152)
98	A Vietnamese Genetic Variation Database	NC_000011.9 - 38288593	Jul 13, 2019 (153)
99	ALFA	NC_000011.10 - 38267043	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)
rs59605955	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
94481, ss114494891, ss169691216, ss202606670, ss280965974, ss1598101505, ss1713249768, ss3638966647, ss3639794582, ss3642901382, ss3643846769, ss3847416589	NC_000011.8:38245168:C:T	NC_000011.10:38267042:C:T	(self)
53415413, 29676705, 21063888, 13238521, 31498748, 756884, 198953, 13824630, 28077276, 7445502, 59528252, 29676705, 6592869, ss225202603, ss536666058, ss562512777, ss832672404, ss988424702, ss1077661469, ss1340903645, ss1626408864, ss1669402897, ss1806783960, ss1931782700, ss1946307634, ss1959341732, ss2154929148, ss2632826837, ss2699210477, ss2710733761, ss2898540793, ss3007918294, ss3021327110, ss3625599809, ss3626643572, ss3637902586, ss3644560462, ss3651690631, ss3675325640, ss3744083900, ss3749186262, ss3832584818, ss3876060296, ss3924321354, ss3984649478, ss3985530957, ss4017534191, ss5201558945, ss5398992806, ss5510329242, ss5624273119, ss5651034459, ss5836533457, ss5942350799	NC_000011.9:38288592:C:T	NC_000011.10:38267042:C:T	(self)
70095846, 377010069, 595856, 25967326, 840628, 82397994, 97599988, 13393520407, ss2181809378, ss3691604823, ss3725233765, ss3771619159, ss3814535152, ss3969589325, ss4882054332, ss5287085640, ss5482319846, ss5582569911, ss5748560890, ss5812303426, ss5919618896	NC_000011.10:38267042:C:T	NC_000011.10:38267042:C:T	(self)
ss15605028, ss18732187	NT_009237.16:37052532:C:T	NC_000011.10:38267042:C:T	(self)
ss66916567, ss67055931, ss68098222, ss70514317, ss71042296, ss75504156, ss85054901, ss152909871, ss159159819, ss170945643	NT_009237.18:38228592:C:T	NC_000011.10:38267042:C: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 rs11034653

PMID	Title	Author	Year	Journal
22610502	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Kennedy RB et al.	2012	Human genetics

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

rs11034653