Name: rs226
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.

rs226

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr3:7864904 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.031803 (8418/264690, TOPMED)
C=0.036703 (5145/140180, GnomAD)
C=0.03824 (824/21548, ALFA) (+ 14 more)
C=0.0303 (194/6404, 1000G_30x)
C=0.0294 (147/5008, 1000G)
C=0.0540 (242/4480, Estonian)
C=0.0280 (108/3854, ALSPAC)
C=0.0332 (123/3708, TWINSUK)
C=0.0372 (42/1130, Daghestan)
C=0.024 (24/998, GoNL)
C=0.025 (15/600, NorthernSweden)
C=0.032 (7/216, Qatari)
C=0.039 (4/102, HapMap)
T=0.48 (25/52, SGDP_PRJ)
C=0.03 (1/40, GENOME_DK)
T=0.5 (1/2, Siberian)
C=0.5 (1/2, 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	21548	T=0.96176	C=0.03824	0.92519	0.001671	0.073139	0
European	Sub	14286	T=0.96416	C=0.03584	0.929721	0.0014	0.068879	0
African	Sub	5552	T=0.9499	C=0.0501	0.902378	0.002522	0.095101	0
African Others	Sub	198	T=0.944	C=0.056	0.888889	0.0	0.111111	0
African American	Sub	5354	T=0.9501	C=0.0499	0.902876	0.002615	0.094509	0
Asian	Sub	112	T=1.000	C=0.000	1.0	0.0	0.0	N/A
East Asian	Sub	86	T=1.00	C=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	26	T=1.00	C=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	146	T=0.979	C=0.021	0.958904	0.0	0.041096	0
Latin American 2	Sub	610	T=0.980	C=0.020	0.960656	0.0	0.039344	0
South Asian	Sub	98	T=0.97	C=0.03	0.938776	0.0	0.061224	0
Other	Sub	744	T=0.978	C=0.022	0.959677	0.002688	0.037634	3

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=0.968197	C=0.031803
gnomAD - Genomes	Global	Study-wide	140180	T=0.963297	C=0.036703
gnomAD - Genomes	European	Sub	75944	T=0.96486	C=0.03514
gnomAD - Genomes	African	Sub	42014	T=0.95097	C=0.04903
gnomAD - Genomes	American	Sub	13620	T=0.97805	C=0.02195
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	T=0.9880	C=0.0120
gnomAD - Genomes	East Asian	Sub	3124	T=0.9997	C=0.0003
gnomAD - Genomes	Other	Sub	2154	T=0.9647	C=0.0353
Allele Frequency Aggregator	Total	Global	21548	T=0.96176	C=0.03824
Allele Frequency Aggregator	European	Sub	14286	T=0.96416	C=0.03584
Allele Frequency Aggregator	African	Sub	5552	T=0.9499	C=0.0501
Allele Frequency Aggregator	Other	Sub	744	T=0.978	C=0.022
Allele Frequency Aggregator	Latin American 2	Sub	610	T=0.980	C=0.020
Allele Frequency Aggregator	Latin American 1	Sub	146	T=0.979	C=0.021
Allele Frequency Aggregator	Asian	Sub	112	T=1.000	C=0.000
Allele Frequency Aggregator	South Asian	Sub	98	T=0.97	C=0.03
1000Genomes_30x	Global	Study-wide	6404	T=0.9697	C=0.0303
1000Genomes_30x	African	Sub	1786	T=0.9502	C=0.0498
1000Genomes_30x	Europe	Sub	1266	T=0.9708	C=0.0292
1000Genomes_30x	South Asian	Sub	1202	T=0.9592	C=0.0408
1000Genomes_30x	East Asian	Sub	1170	T=1.0000	C=0.0000
1000Genomes_30x	American	Sub	980	T=0.981	C=0.019
1000Genomes	Global	Study-wide	5008	T=0.9706	C=0.0294
1000Genomes	African	Sub	1322	T=0.9486	C=0.0514
1000Genomes	East Asian	Sub	1008	T=1.0000	C=0.0000
1000Genomes	Europe	Sub	1006	T=0.9712	C=0.0288
1000Genomes	South Asian	Sub	978	T=0.964	C=0.036
1000Genomes	American	Sub	694	T=0.978	C=0.022
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.9460	C=0.0540
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.9720	C=0.0280
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.9668	C=0.0332
Genome-wide autozygosity in Daghestan	Global	Study-wide	1130	T=0.9628	C=0.0372
Genome-wide autozygosity in Daghestan	Daghestan	Sub	622	T=0.960	C=0.040
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	T=0.958	C=0.042
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	T=0.984	C=0.016
Genome-wide autozygosity in Daghestan	Europe	Sub	108	T=0.944	C=0.056
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	T=0.97	C=0.03
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=1.00	C=0.00
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.976	C=0.024
Northern Sweden	ACPOP	Study-wide	600	T=0.975	C=0.025
Qatari	Global	Study-wide	216	T=0.968	C=0.032
HapMap	Global	Study-wide	102	T=0.961	C=0.039
HapMap	American	Sub	102	T=0.961	C=0.039
SGDP_PRJ	Global	Study-wide	52	T=0.48	C=0.52
The Danish reference pan genome	Danish	Study-wide	40	T=0.97	C=0.03
Siberian	Global	Study-wide	2	T=0.5	C=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 3	NC_000003.12:g.7864904T>C
GRCh37.p13 chr 3	NC_000003.11:g.7906591T>C

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
GRCh38.p14 chr 3	NC_000003.12:g.7864904=	NC_000003.12:g.7864904T>C
GRCh37.p13 chr 3	NC_000003.11:g.7906591=	NC_000003.11:g.7906591T>C

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#.

38 SubSNP, 16 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss226	Sep 19, 2000 (36)
2	PERLEGEN	ss23223203	Sep 20, 2004 (123)
3	1000GENOMES	ss219966142	Jul 14, 2010 (132)
4	1000GENOMES	ss231696635	Jul 14, 2010 (132)
5	TISHKOFF	ss556407746	Apr 25, 2013 (138)
6	EVA-GONL	ss978243559	Aug 21, 2014 (142)
7	JMKIDD_LAB	ss1070154309	Aug 21, 2014 (142)
8	1000GENOMES	ss1302695220	Aug 21, 2014 (142)
9	HAMMER_LAB	ss1397328722	Sep 08, 2015 (146)
10	EVA_GENOME_DK	ss1579833905	Apr 01, 2015 (144)
11	EVA_DECODE	ss1587703964	Apr 01, 2015 (144)
12	EVA_UK10K_ALSPAC	ss1606356938	Apr 01, 2015 (144)
13	EVA_UK10K_TWINSUK	ss1649350971	Apr 01, 2015 (144)
14	HAMMER_LAB	ss1798811786	Sep 08, 2015 (146)
15	WEILL_CORNELL_DGM	ss1921495200	Feb 12, 2016 (147)
16	JJLAB	ss2021299797	Sep 14, 2016 (149)
17	USC_VALOUEV	ss2149367174	Dec 20, 2016 (150)
18	HUMAN_LONGEVITY	ss2248866078	Dec 20, 2016 (150)
19	GNOMAD	ss2789236770	Nov 08, 2017 (151)
20	SWEGEN	ss2991786487	Nov 08, 2017 (151)
21	CSHL	ss3344871603	Nov 08, 2017 (151)
22	EGCUT_WGS	ss3659686721	Jul 13, 2019 (153)
23	EVA_DECODE	ss3708583894	Jul 13, 2019 (153)
24	ACPOP	ss3729608675	Jul 13, 2019 (153)
25	KHV_HUMAN_GENOMES	ss3802778490	Jul 13, 2019 (153)
26	EVA	ss3827647123	Apr 25, 2020 (154)
27	SGDP_PRJ	ss3855169896	Apr 25, 2020 (154)
28	TOPMED	ss4553333471	Apr 26, 2021 (155)
29	1000G_HIGH_COVERAGE	ss5252955153	Oct 12, 2022 (156)
30	EVA	ss5337719834	Oct 12, 2022 (156)
31	HUGCELL_USP	ss5452467265	Oct 12, 2022 (156)
32	EVA	ss5506876604	Oct 12, 2022 (156)
33	1000G_HIGH_COVERAGE	ss5530742711	Oct 12, 2022 (156)
34	SANFORD_IMAGENETICS	ss5631488842	Oct 12, 2022 (156)
35	EVA	ss5825309356	Oct 12, 2022 (156)
36	EVA	ss5853478441	Oct 12, 2022 (156)
37	EVA	ss5867522433	Oct 12, 2022 (156)
38	EVA	ss5959746840	Oct 12, 2022 (156)
39	1000Genomes	NC_000003.11 - 7906591	Oct 11, 2018 (152)
40	1000Genomes_30x	NC_000003.12 - 7864904	Oct 12, 2022 (156)
41	The Avon Longitudinal Study of Parents and Children	NC_000003.11 - 7906591	Oct 11, 2018 (152)
42	Genome-wide autozygosity in Daghestan	NC_000003.10 - 7881591	Apr 25, 2020 (154)
43	Genetic variation in the Estonian population	NC_000003.11 - 7906591	Oct 11, 2018 (152)
44	The Danish reference pan genome	NC_000003.11 - 7906591	Apr 25, 2020 (154)
45	gnomAD - Genomes	NC_000003.12 - 7864904	Apr 26, 2021 (155)
46	Genome of the Netherlands Release 5	NC_000003.11 - 7906591	Apr 25, 2020 (154)
47	HapMap	NC_000003.12 - 7864904	Apr 25, 2020 (154)
48	Northern Sweden	NC_000003.11 - 7906591	Jul 13, 2019 (153)
49	Qatari	NC_000003.11 - 7906591	Apr 25, 2020 (154)
50	SGDP_PRJ	NC_000003.11 - 7906591	Apr 25, 2020 (154)
51	Siberian	NC_000003.11 - 7906591	Apr 25, 2020 (154)
52	TopMed	NC_000003.12 - 7864904	Apr 26, 2021 (155)
53	UK 10K study - Twins	NC_000003.11 - 7906591	Oct 11, 2018 (152)
54	ALFA	NC_000003.12 - 7864904	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
304840, ss1397328722, ss1587703964	NC_000003.10:7881590:T:C	NC_000003.12:7864903:T:C	(self)
13836573, 7668775, 5424969, 5998844, 3367142, 2893540, 3537130, 7186876, 1883528, 7668775, ss219966142, ss231696635, ss556407746, ss978243559, ss1070154309, ss1302695220, ss1579833905, ss1606356938, ss1649350971, ss1798811786, ss1921495200, ss2021299797, ss2149367174, ss2789236770, ss2991786487, ss3344871603, ss3659686721, ss3729608675, ss3827647123, ss3855169896, ss5337719834, ss5506876604, ss5631488842, ss5825309356, ss5959746840	NC_000003.11:7906590:T:C	NC_000003.12:7864903:T:C	(self)
18268646, 98288789, 2297345, 390711026, 8664972702, ss2248866078, ss3708583894, ss3802778490, ss4553333471, ss5252955153, ss5452467265, ss5530742711, ss5853478441, ss5867522433	NC_000003.12:7864903:T:C	NC_000003.12:7864903:T:C	(self)
ss226, ss23223203	NT_022517.18:7846590:T:C	NC_000003.12:7864903:T:C	(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 rs226

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

rs226