Name: rs7211041
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.

rs7211041

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:47104910 (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: T=0.126166 (33395/264690, TOPMED)
T=0.00011 (3/28258, 14KJPN)
T=0.00006 (1/16760, 8.3KJPN) (+ 12 more)
T=0.03989 (649/16268, ALFA)
T=0.1065 (682/6404, 1000G_30x)
T=0.1034 (518/5008, 1000G)
T=0.1105 (426/3854, ALSPAC)
T=0.1076 (399/3708, TWINSUK)
T=0.104 (104/998, GoNL)
T=0.088 (53/600, NorthernSweden)
T=0.111 (24/216, Qatari)
C=0.44 (28/64, SGDP_PRJ)
T=0.10 (4/40, GENOME_DK)
C=0.5 (3/6, Siberian)
T=0.5 (3/6, 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	16268	C=0.96011	G=0.00000, T=0.03989
European	Sub	12874	C=0.95293	G=0.00000, T=0.04707
African	Sub	1978	C=0.9904	G=0.0000, T=0.0096
African Others	Sub	70	C=0.99	G=0.00, T=0.01
African American	Sub	1908	C=0.9906	G=0.0000, T=0.0094
Asian	Sub	112	C=1.000	G=0.000, T=0.000
East Asian	Sub	86	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	106	C=1.000	G=0.000, T=0.000
Latin American 2	Sub	518	C=1.000	G=0.000, T=0.000
South Asian	Sub	94	C=1.00	G=0.00, T=0.00
Other	Sub	586	C=0.959	G=0.000, T=0.041

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=0.873834	T=0.126166
14KJPN	JAPANESE	Study-wide	28258	C=0.99989	T=0.00011
8.3KJPN	JAPANESE	Study-wide	16760	C=0.99994	T=0.00006
Allele Frequency Aggregator	Total	Global	16268	C=0.96011	G=0.00000, T=0.03989
Allele Frequency Aggregator	European	Sub	12874	C=0.95293	G=0.00000, T=0.04707
Allele Frequency Aggregator	African	Sub	1978	C=0.9904	G=0.0000, T=0.0096
Allele Frequency Aggregator	Other	Sub	586	C=0.959	G=0.000, T=0.041
Allele Frequency Aggregator	Latin American 2	Sub	518	C=1.000	G=0.000, T=0.000
Allele Frequency Aggregator	Asian	Sub	112	C=1.000	G=0.000, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	106	C=1.000	G=0.000, T=0.000
Allele Frequency Aggregator	South Asian	Sub	94	C=1.00	G=0.00, T=0.00
1000Genomes_30x	Global	Study-wide	6404	C=0.8935	T=0.1065
1000Genomes_30x	African	Sub	1786	C=0.7660	T=0.2340
1000Genomes_30x	Europe	Sub	1266	C=0.8934	T=0.1066
1000Genomes_30x	South Asian	Sub	1202	C=0.9800	T=0.0200
1000Genomes_30x	East Asian	Sub	1170	C=0.9915	T=0.0085
1000Genomes_30x	American	Sub	980	C=0.903	T=0.097
1000Genomes	Global	Study-wide	5008	C=0.8966	T=0.1034
1000Genomes	African	Sub	1322	C=0.7663	T=0.2337
1000Genomes	East Asian	Sub	1008	C=0.9901	T=0.0099
1000Genomes	Europe	Sub	1006	C=0.8917	T=0.1083
1000Genomes	South Asian	Sub	978	C=0.978	T=0.022
1000Genomes	American	Sub	694	C=0.902	T=0.098
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.8895	T=0.1105
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8924	T=0.1076
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.896	T=0.104
Northern Sweden	ACPOP	Study-wide	600	C=0.912	T=0.088
Qatari	Global	Study-wide	216	C=0.889	T=0.111
SGDP_PRJ	Global	Study-wide	64	C=0.44	T=0.56
The Danish reference pan genome	Danish	Study-wide	40	C=0.90	T=0.10
Siberian	Global	Study-wide	6	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 17	NC_000017.11:g.47104910C>G
GRCh38.p14 chr 17	NC_000017.11:g.47104910C>T
GRCh37.p13 chr 17	NC_000017.10:g.45182276C>G
GRCh37.p13 chr 17	NC_000017.10:g.45182276C>T

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 17	NC_000017.11:g.47104910=	NC_000017.11:g.47104910C>G	NC_000017.11:g.47104910C>T
GRCh37.p13 chr 17	NC_000017.10:g.45182276=	NC_000017.10:g.45182276C>G	NC_000017.10:g.45182276C>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#.

43 SubSNP, 16 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss10853487	Jul 11, 2003 (116)
2	HGSV	ss79081720	Dec 06, 2007 (129)
3	COMPLETE_GENOMICS	ss169693801	Jul 04, 2010 (132)
4	COMPLETE_GENOMICS	ss171466432	Jul 04, 2010 (132)
5	BL	ss255656015	May 09, 2011 (134)
6	PJP	ss292057709	May 09, 2011 (134)
7	1000GENOMES	ss339716400	May 09, 2011 (134)
8	TISHKOFF	ss565288541	Apr 25, 2013 (138)
9	SSMP	ss661094631	Apr 25, 2013 (138)
10	EVA-GONL	ss993136910	Aug 21, 2014 (142)
11	JMKIDD_LAB	ss1081077157	Aug 21, 2014 (142)
12	1000GENOMES	ss1358769536	Aug 21, 2014 (142)
13	DDI	ss1428039993	Apr 01, 2015 (144)
14	EVA_GENOME_DK	ss1578168853	Apr 01, 2015 (144)
15	EVA_UK10K_ALSPAC	ss1635705535	Apr 01, 2015 (144)
16	EVA_UK10K_TWINSUK	ss1678699568	Apr 01, 2015 (144)
17	EVA_DECODE	ss1697179438	Apr 01, 2015 (144)
18	HAMMER_LAB	ss1808795971	Sep 08, 2015 (146)
19	WEILL_CORNELL_DGM	ss1936599286	Feb 12, 2016 (147)
20	JJLAB	ss2029075975	Sep 14, 2016 (149)
21	USC_VALOUEV	ss2157549431	Dec 20, 2016 (150)
22	HUMAN_LONGEVITY	ss2217056039	Dec 20, 2016 (150)
23	GNOMAD	ss2950226841	Nov 08, 2017 (151)
24	SWEGEN	ss3015588027	Nov 08, 2017 (151)
25	CSHL	ss3351756413	Nov 08, 2017 (151)
26	EVA_DECODE	ss3700526256	Jul 13, 2019 (153)
27	ACPOP	ss3742051623	Jul 13, 2019 (153)
28	EVA	ss3754701686	Jul 13, 2019 (153)
29	KHV_HUMAN_GENOMES	ss3819969457	Jul 13, 2019 (153)
30	EVA	ss3834883030	Apr 27, 2020 (154)
31	SGDP_PRJ	ss3885815049	Apr 27, 2020 (154)
32	TOPMED	ss5036989024	Apr 27, 2021 (155)
33	TOMMO_GENOMICS	ss5222568950	Apr 27, 2021 (155)
34	1000G_HIGH_COVERAGE	ss5303240306	Oct 16, 2022 (156)
35	EVA	ss5427780773	Oct 16, 2022 (156)
36	1000G_HIGH_COVERAGE	ss5607011260	Oct 16, 2022 (156)
37	SANFORD_IMAGENETICS	ss5660162614	Oct 16, 2022 (156)
38	TOMMO_GENOMICS	ss5778828576	Oct 16, 2022 (156)
39	YY_MCH	ss5816565905	Oct 16, 2022 (156)
40	EVA	ss5834025843	Oct 16, 2022 (156)
41	EVA	ss5851817694	Oct 16, 2022 (156)
42	EVA	ss5914048787	Oct 16, 2022 (156)
43	EVA	ss5951551019	Oct 16, 2022 (156)
44	1000Genomes	NC_000017.10 - 45182276	Oct 12, 2018 (152)
45	1000Genomes_30x	NC_000017.11 - 47104910	Oct 16, 2022 (156)
46	The Avon Longitudinal Study of Parents and Children	NC_000017.10 - 45182276	Oct 12, 2018 (152)
47	The Danish reference pan genome	NC_000017.10 - 45182276	Apr 27, 2020 (154)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 508137335 (NC_000017.11:47104909:C:G 3/139874) Row 508137336 (NC_000017.11:47104909:C:T 17599/139812)	-	Apr 27, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 508137335 (NC_000017.11:47104909:C:G 3/139874) Row 508137336 (NC_000017.11:47104909:C:T 17599/139812)	-	Apr 27, 2021 (155)
50	Genome of the Netherlands Release 5	NC_000017.10 - 45182276	Apr 27, 2020 (154)
51	Northern Sweden	NC_000017.10 - 45182276	Jul 13, 2019 (153)
52	Qatari	NC_000017.10 - 45182276	Apr 27, 2020 (154)
53	SGDP_PRJ	NC_000017.10 - 45182276	Apr 27, 2020 (154)
54	Siberian	NC_000017.10 - 45182276	Apr 27, 2020 (154)
55	8.3KJPN	NC_000017.10 - 45182276	Apr 27, 2021 (155)
56	14KJPN	NC_000017.11 - 47104910	Oct 16, 2022 (156)
57	TopMed	NC_000017.11 - 47104910	Apr 27, 2021 (155)
58	UK 10K study - Twins	NC_000017.10 - 45182276	Oct 12, 2018 (152)
59	ALFA	NC_000017.11 - 47104910	Apr 27, 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
2161726630, ss2217056039	NC_000017.11:47104909:C:G	NC_000017.11:47104909:C:G	(self)
ss79081720, ss169693801, ss171466432, ss255656015, ss292057709, ss1697179438	NC_000017.9:42537274:C:T	NC_000017.11:47104909:C:T	(self)
72015744, 39907851, 4370727, 17787158, 15336488, 18641208, 37832029, 10065785, 80538257, 39907851, ss339716400, ss565288541, ss661094631, ss993136910, ss1081077157, ss1358769536, ss1428039993, ss1578168853, ss1635705535, ss1678699568, ss1808795971, ss1936599286, ss2029075975, ss2157549431, ss2950226841, ss3015588027, ss3351756413, ss3742051623, ss3754701686, ss3834883030, ss3885815049, ss5222568950, ss5427780773, ss5660162614, ss5834025843, ss5951551019	NC_000017.10:45182275:C:T	NC_000017.11:47104909:C:T	(self)
94537195, 112665680, 252534686, 2161726630, ss2217056039, ss3700526256, ss3819969457, ss5036989024, ss5303240306, ss5607011260, ss5778828576, ss5816565905, ss5851817694, ss5914048787	NC_000017.11:47104909:C:T	NC_000017.11:47104909:C:T	(self)
ss10853487	NT_010783.13:475474:C:T	NC_000017.11:47104909: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 rs7211041

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

rs7211041