Name: rs11607594
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.

rs11607594

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:113655829 (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>A / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.075345 (19943/264690, TOPMED)
T=0.081484 (11383/139696, GnomAD)
T=0.00004 (1/28258, 14KJPN) (+ 16 more)
T=0.08878 (1663/18732, ALFA)
T=0.0461 (295/6404, 1000G_30x)
T=0.0473 (237/5008, 1000G)
T=0.0996 (446/4480, Estonian)
T=0.1232 (475/3854, ALSPAC)
T=0.1230 (456/3708, TWINSUK)
T=0.0007 (2/2920, KOREAN)
T=0.124 (124/998, GoNL)
T=0.080 (48/600, NorthernSweden)
T=0.039 (12/306, HapMap)
T=0.037 (8/216, Qatari)
T=0.005 (1/216, Vietnamese)
C=0.48 (28/58, SGDP_PRJ)
T=0.07 (3/40, GENOME_DK)
C=0.50 (8/16, Siberian)
T=0.50 (8/16, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LOC107984390 : 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	18732	C=0.91122	A=0.00000, T=0.08878
European	Sub	14154	C=0.89515	A=0.00000, T=0.10485
African	Sub	2920	C=0.9829	A=0.0000, T=0.0171
African Others	Sub	114	C=0.991	A=0.000, T=0.009
African American	Sub	2806	C=0.9825	A=0.0000, T=0.0175
Asian	Sub	112	C=1.000	A=0.000, T=0.000
East Asian	Sub	86	C=1.00	A=0.00, T=0.00
Other Asian	Sub	26	C=1.00	A=0.00, T=0.00
Latin American 1	Sub	146	C=0.918	A=0.000, T=0.082
Latin American 2	Sub	610	C=0.911	A=0.000, T=0.089
South Asian	Sub	98	C=0.89	A=0.00, T=0.11
Other	Sub	692	C=0.925	A=0.000, T=0.075

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=0.924655	T=0.075345
gnomAD - Genomes	Global	Study-wide	139696	C=0.918516	T=0.081484
gnomAD - Genomes	European	Sub	75648	C=0.88474	T=0.11526
gnomAD - Genomes	African	Sub	41864	C=0.97633	T=0.02367
gnomAD - Genomes	American	Sub	13596	C=0.89938	T=0.10062
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	C=0.9575	T=0.0425
gnomAD - Genomes	East Asian	Sub	3130	C=0.9981	T=0.0019
gnomAD - Genomes	Other	Sub	2140	C=0.9262	T=0.0738
14KJPN	JAPANESE	Study-wide	28258	C=0.99996	T=0.00004
Allele Frequency Aggregator	Total	Global	18732	C=0.91122	A=0.00000, T=0.08878
Allele Frequency Aggregator	European	Sub	14154	C=0.89515	A=0.00000, T=0.10485
Allele Frequency Aggregator	African	Sub	2920	C=0.9829	A=0.0000, T=0.0171
Allele Frequency Aggregator	Other	Sub	692	C=0.925	A=0.000, T=0.075
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.911	A=0.000, T=0.089
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.918	A=0.000, T=0.082
Allele Frequency Aggregator	Asian	Sub	112	C=1.000	A=0.000, T=0.000
Allele Frequency Aggregator	South Asian	Sub	98	C=0.89	A=0.00, T=0.11
1000Genomes_30x	Global	Study-wide	6404	C=0.9539	T=0.0461
1000Genomes_30x	African	Sub	1786	C=0.9944	T=0.0056
1000Genomes_30x	Europe	Sub	1266	C=0.8997	T=0.1003
1000Genomes_30x	South Asian	Sub	1202	C=0.9468	T=0.0532
1000Genomes_30x	East Asian	Sub	1170	C=0.9974	T=0.0026
1000Genomes_30x	American	Sub	980	C=0.907	T=0.093
1000Genomes	Global	Study-wide	5008	C=0.9527	T=0.0473
1000Genomes	African	Sub	1322	C=0.9924	T=0.0076
1000Genomes	East Asian	Sub	1008	C=0.9970	T=0.0030
1000Genomes	Europe	Sub	1006	C=0.8986	T=0.1014
1000Genomes	South Asian	Sub	978	C=0.942	T=0.058
1000Genomes	American	Sub	694	C=0.906	T=0.094
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9004	T=0.0996
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.8768	T=0.1232
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8770	T=0.1230
KOREAN population from KRGDB	KOREAN	Study-wide	2920	C=0.9993	T=0.0007
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.876	T=0.124
Northern Sweden	ACPOP	Study-wide	600	C=0.920	T=0.080
HapMap	Global	Study-wide	306	C=0.961	T=0.039
HapMap	African	Sub	114	C=1.000	T=0.000
HapMap	American	Sub	106	C=0.887	T=0.113
HapMap	Asian	Sub	86	C=1.00	T=0.00
Qatari	Global	Study-wide	216	C=0.963	T=0.037
A Vietnamese Genetic Variation Database	Global	Study-wide	216	C=0.995	T=0.005
SGDP_PRJ	Global	Study-wide	58	C=0.48	T=0.52
The Danish reference pan genome	Danish	Study-wide	40	C=0.93	T=0.07
Siberian	Global	Study-wide	16	C=0.50	T=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 11	NC_000011.10:g.113655829C>A
GRCh38.p14 chr 11	NC_000011.10:g.113655829C>T
GRCh37.p13 chr 11	NC_000011.9:g.113526551C>A
GRCh37.p13 chr 11	NC_000011.9:g.113526551C>T

Gene: LOC107984390, uncharacterized LOC107984390 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC107984390 transcript variant X1	XR_001748390.2:n.	N/A	Intron Variant
LOC107984390 transcript variant X2	XR_001748391.2: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=	A	T
GRCh38.p14 chr 11	NC_000011.10:g.113655829=	NC_000011.10:g.113655829C>A	NC_000011.10:g.113655829C>T
GRCh37.p13 chr 11	NC_000011.9:g.113526551=	NC_000011.9:g.113526551C>A	NC_000011.9:g.113526551C>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#.

40 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	CSHL-HAPMAP	ss16555325	Feb 28, 2004 (120)
2	ABI	ss40035418	Mar 15, 2006 (126)
3	PERLEGEN	ss69329270	May 17, 2007 (127)
4	1000GENOMES	ss111103552	Jan 25, 2009 (130)
5	BCM-HGSC-SUB	ss207563562	Jul 04, 2010 (132)
6	1000GENOMES	ss235725505	Jul 15, 2010 (132)
7	SSMP	ss658359642	Apr 25, 2013 (138)
8	EVA-GONL	ss988980102	Aug 21, 2014 (142)
9	1000GENOMES	ss1343031563	Aug 21, 2014 (142)
10	EVA_GENOME_DK	ss1575962344	Apr 01, 2015 (144)
11	EVA_DECODE	ss1598646208	Apr 01, 2015 (144)
12	EVA_UK10K_ALSPAC	ss1627498227	Apr 01, 2015 (144)
13	EVA_UK10K_TWINSUK	ss1670492260	Apr 01, 2015 (144)
14	WEILL_CORNELL_DGM	ss1932341190	Feb 12, 2016 (147)
15	JJLAB	ss2026914518	Sep 14, 2016 (149)
16	USC_VALOUEV	ss2155227036	Dec 20, 2016 (150)
17	HUMAN_LONGEVITY	ss2185843882	Dec 20, 2016 (150)
18	GNOMAD	ss2904643278	Nov 08, 2017 (151)
19	SWEGEN	ss3008806233	Nov 08, 2017 (151)
20	BIOINF_KMB_FNS_UNIBA	ss3027257968	Nov 08, 2017 (151)
21	CSHL	ss3349802382	Nov 08, 2017 (151)
22	EGCUT_WGS	ss3676134014	Jul 13, 2019 (153)
23	EVA_DECODE	ss3692630866	Jul 13, 2019 (153)
24	ACPOP	ss3738553997	Jul 13, 2019 (153)
25	EVA	ss3749832394	Jul 13, 2019 (153)
26	KHV_HUMAN_GENOMES	ss3815162429	Jul 13, 2019 (153)
27	EVA	ss3832847014	Apr 26, 2020 (154)
28	EVA	ss3839985923	Apr 26, 2020 (154)
29	EVA	ss3845467634	Apr 26, 2020 (154)
30	SGDP_PRJ	ss3877170808	Apr 26, 2020 (154)
31	KRGDB	ss3925629119	Apr 26, 2020 (154)
32	TOPMED	ss4900556052	Apr 26, 2021 (155)
33	1000G_HIGH_COVERAGE	ss5288959013	Oct 13, 2022 (156)
34	EVA	ss5510527662	Oct 13, 2022 (156)
35	1000G_HIGH_COVERAGE	ss5585473730	Oct 13, 2022 (156)
36	SANFORD_IMAGENETICS	ss5652104732	Oct 13, 2022 (156)
37	TOMMO_GENOMICS	ss5752430849	Oct 13, 2022 (156)
38	EVA	ss5837251914	Oct 13, 2022 (156)
39	EVA	ss5921723974	Oct 13, 2022 (156)
40	EVA	ss5943435595	Oct 13, 2022 (156)
41	1000Genomes	NC_000011.9 - 113526551	Oct 12, 2018 (152)
42	1000Genomes_30x	NC_000011.10 - 113655829	Oct 13, 2022 (156)
43	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 113526551	Oct 12, 2018 (152)
44	Genetic variation in the Estonian population	NC_000011.9 - 113526551	Oct 12, 2018 (152)
45	The Danish reference pan genome	NC_000011.9 - 113526551	Apr 26, 2020 (154)
46	gnomAD - Genomes	NC_000011.10 - 113655829	Apr 26, 2021 (155)
47	Genome of the Netherlands Release 5	NC_000011.9 - 113526551	Apr 26, 2020 (154)
48	HapMap	NC_000011.10 - 113655829	Apr 26, 2020 (154)
49	KOREAN population from KRGDB	NC_000011.9 - 113526551	Apr 26, 2020 (154)
50	Northern Sweden	NC_000011.9 - 113526551	Jul 13, 2019 (153)
51	Qatari	NC_000011.9 - 113526551	Apr 26, 2020 (154)
52	SGDP_PRJ	NC_000011.9 - 113526551	Apr 26, 2020 (154)
53	Siberian	NC_000011.9 - 113526551	Apr 26, 2020 (154)
54	14KJPN	NC_000011.10 - 113655829	Oct 13, 2022 (156)
55	TopMed	NC_000011.10 - 113655829	Apr 26, 2021 (155)
56	UK 10K study - Twins	NC_000011.9 - 113526551	Oct 12, 2018 (152)
57	A Vietnamese Genetic Variation Database	NC_000011.9 - 113526551	Jul 13, 2019 (153)
58	ALFA	NC_000011.10 - 113655829	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
12623989944	NC_000011.10:113655828:C:A	NC_000011.10:113655828:C:A	(self)
ss111103552, ss207563562, ss1598646208	NC_000011.8:113031760:C:T	NC_000011.10:113655828:C:T	(self)
55616162, 30871047, 21872262, 2742112, 13776653, 32806513, 11838862, 14383120, 29187788, 7743390, 30871047, 6851611, ss235725505, ss658359642, ss988980102, ss1343031563, ss1575962344, ss1627498227, ss1670492260, ss1932341190, ss2026914518, ss2155227036, ss2904643278, ss3008806233, ss3349802382, ss3676134014, ss3738553997, ss3749832394, ss3832847014, ss3839985923, ss3877170808, ss3925629119, ss5510527662, ss5652104732, ss5837251914, ss5943435595	NC_000011.9:113526550:C:T	NC_000011.10:113655828:C:T	(self)
72999665, 392441428, 702737, 86267953, 116101708, 12623989944, ss2185843882, ss3027257968, ss3692630866, ss3815162429, ss3845467634, ss4900556052, ss5288959013, ss5585473730, ss5752430849, ss5921723974	NC_000011.10:113655828:C:T	NC_000011.10:113655828:C:T	(self)
ss16555325	NT_033899.6:17070337:C:T	NC_000011.10:113655828:C:T	(self)
ss40035418, ss69329270	NT_033899.8:17088966:C:T	NC_000011.10:113655828: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 rs11607594

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

rs11607594