Name: rs1848221
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.

rs1848221

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr21:10651564 (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: A>C / A>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.000004 (1/264690, TOPMED)
C=0.186294 (22647/121566, GnomAD)
C=0.28169 (7960/28258, 14KJPN) (+ 10 more)
C=0.28109 (4711/16760, 8.3KJPN)
C=0.0385 (301/7812, ALFA)
C=0.2769 (1773/6404, 1000G_30x)
C=0.2980 (873/2930, KOREAN)
C=0.2773 (508/1832, Korea1K)
A=0.500 (147/294, SGDP_PRJ)
C=0.500 (147/294, SGDP_PRJ)
C=0.213 (46/216, Qatari)
A=0.50 (10/20, Siberian)
C=0.50 (10/20, 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	7812	A=0.9615	C=0.0385, G=0.0000
European	Sub	5940	A=0.9867	C=0.0133, G=0.0000
African	Sub	906	A=0.756	C=0.244, G=0.000
African Others	Sub	40	A=0.72	C=0.28, G=0.00
African American	Sub	866	A=0.758	C=0.242, G=0.000
Asian	Sub	72	A=1.00	C=0.00, G=0.00
East Asian	Sub	54	A=1.00	C=0.00, G=0.00
Other Asian	Sub	18	A=1.00	C=0.00, G=0.00
Latin American 1	Sub	72	A=1.00	C=0.00, G=0.00
Latin American 2	Sub	510	A=1.000	C=0.000, G=0.000
South Asian	Sub	68	A=1.00	C=0.00, G=0.00
Other	Sub	244	A=0.996	C=0.004, G=0.000

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	A=0.999996	G=0.000004
gnomAD - Genomes	Global	Study-wide	121566	A=0.813706	C=0.186294
gnomAD - Genomes	European	Sub	69098	A=0.91825	C=0.08175
gnomAD - Genomes	African	Sub	33830	A=0.57283	C=0.42717
gnomAD - Genomes	American	Sub	11686	A=0.89132	C=0.10868
gnomAD - Genomes	Ashkenazi Jewish	Sub	2714	A=0.8401	C=0.1599
gnomAD - Genomes	East Asian	Sub	2442	A=0.7977	C=0.2023
gnomAD - Genomes	Other	Sub	1796	A=0.8057	C=0.1943
14KJPN	JAPANESE	Study-wide	28258	A=0.71831	C=0.28169
8.3KJPN	JAPANESE	Study-wide	16760	A=0.71891	C=0.28109
Allele Frequency Aggregator	Total	Global	7812	A=0.9615	C=0.0385, G=0.0000
Allele Frequency Aggregator	European	Sub	5940	A=0.9867	C=0.0133, G=0.0000
Allele Frequency Aggregator	African	Sub	906	A=0.756	C=0.244, G=0.000
Allele Frequency Aggregator	Latin American 2	Sub	510	A=1.000	C=0.000, G=0.000
Allele Frequency Aggregator	Other	Sub	244	A=0.996	C=0.004, G=0.000
Allele Frequency Aggregator	Latin American 1	Sub	72	A=1.00	C=0.00, G=0.00
Allele Frequency Aggregator	Asian	Sub	72	A=1.00	C=0.00, G=0.00
Allele Frequency Aggregator	South Asian	Sub	68	A=1.00	C=0.00, G=0.00
1000Genomes_30x	Global	Study-wide	6404	A=0.7231	C=0.2769
1000Genomes_30x	African	Sub	1786	A=0.5353	C=0.4647
1000Genomes_30x	Europe	Sub	1266	A=0.8681	C=0.1319
1000Genomes_30x	South Asian	Sub	1202	A=0.7346	C=0.2654
1000Genomes_30x	East Asian	Sub	1170	A=0.7299	C=0.2701
1000Genomes_30x	American	Sub	980	A=0.856	C=0.144
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.7020	C=0.2980
Korean Genome Project	KOREAN	Study-wide	1832	A=0.7227	C=0.2773
SGDP_PRJ	Global	Study-wide	294	A=0.500	C=0.500
Qatari	Global	Study-wide	216	A=0.787	C=0.213
Siberian	Global	Study-wide	20	A=0.50	C=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 21	NC_000021.9:g.10651564A>C
GRCh38.p14 chr 21	NC_000021.9:g.10651564A>G
GRCh37.p13 chr 21	NC_000021.8:g.10860893T>G
GRCh37.p13 chr 21	NC_000021.8:g.10860893T>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	A=	C	G
GRCh38.p14 chr 21	NC_000021.9:g.10651564=	NC_000021.9:g.10651564A>C	NC_000021.9:g.10651564A>G
GRCh37.p13 chr 21	NC_000021.8:g.10860893=	NC_000021.8:g.10860893T>G	NC_000021.8:g.10860893T>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#.

34 SubSNP, 11 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss2719932	Jan 12, 2001 (92)
2	HGSV	ss78774595	Dec 06, 2007 (129)
3	HUMANGENOME_JCVI	ss95817153	Feb 06, 2009 (130)
4	ILLUMINA-UK	ss117448222	Feb 14, 2009 (130)
5	ENSEMBL	ss133109140	Dec 01, 2009 (131)
6	COMPLETE_GENOMICS	ss168844098	Jul 04, 2010 (132)
7	GMI	ss283453207	May 04, 2012 (137)
8	PJP	ss292668625	May 09, 2011 (134)
9	DDI	ss1429116614	Apr 01, 2015 (144)
10	HAMMER_LAB	ss1809591583	Sep 08, 2015 (146)
11	WEILL_CORNELL_DGM	ss1938460005	Feb 12, 2016 (147)
12	ILLUMINA	ss1959936976	Feb 12, 2016 (147)
13	USC_VALOUEV	ss2158593363	Dec 20, 2016 (150)
14	SYSTEMSBIOZJU	ss2629495996	Nov 08, 2017 (151)
15	GRF	ss2704306284	Nov 08, 2017 (151)
16	SWEGEN	ss3018557695	Nov 08, 2017 (151)
17	ILLUMINA	ss3022141430	Nov 08, 2017 (151)
18	CSHL	ss3352618208	Nov 08, 2017 (151)
19	ILLUMINA	ss3652599731	Oct 12, 2018 (152)
20	EVA_DECODE	ss3707355613	Jul 13, 2019 (153)
21	EVA	ss3758880447	Jul 13, 2019 (153)
22	EVA	ss3835770863	Apr 27, 2020 (154)
23	SGDP_PRJ	ss3889573346	Apr 27, 2020 (154)
24	KRGDB	ss3939960454	Apr 27, 2020 (154)
25	KOGIC	ss3982743845	Apr 27, 2020 (154)
26	GNOMAD	ss4357096887	Apr 26, 2021 (155)
27	TOPMED	ss5095160080	Apr 26, 2021 (155)
28	TOMMO_GENOMICS	ss5230643855	Apr 26, 2021 (155)
29	1000G_HIGH_COVERAGE	ss5309548414	Oct 16, 2022 (156)
30	1000G_HIGH_COVERAGE	ss5616360761	Oct 16, 2022 (156)
31	SANFORD_IMAGENETICS	ss5663616889	Oct 16, 2022 (156)
32	TOMMO_GENOMICS	ss5790929624	Oct 16, 2022 (156)
33	YY_MCH	ss5818265912	Oct 16, 2022 (156)
34	EVA	ss5838775526	Oct 16, 2022 (156)
35	1000Genomes_30x	NC_000021.9 - 10651564	Oct 16, 2022 (156)
36	gnomAD - Genomes	NC_000021.9 - 10651564	Apr 26, 2021 (155)
37	KOREAN population from KRGDB	NC_000021.8 - 10860893	Apr 27, 2020 (154)
38	Korean Genome Project	NC_000021.9 - 10651564	Apr 27, 2020 (154)
39	Qatari	NC_000021.8 - 10860893	Apr 27, 2020 (154)
40	SGDP_PRJ	NC_000021.8 - 10860893	Apr 27, 2020 (154)
41	Siberian	NC_000021.8 - 10860893	Apr 27, 2020 (154)
42	8.3KJPN	NC_000021.8 - 10860893	Apr 26, 2021 (155)
43	14KJPN	NC_000021.9 - 10651564	Oct 16, 2022 (156)
44	TopMed	NC_000021.9 - 10651564	Apr 26, 2021 (155)
45	ALFA	NC_000021.9 - 10651564	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
ss78774595, ss117448222, ss168844098, ss283453207, ss292668625	NC_000021.7:9882763:T:G	NC_000021.9:10651563:A:C	(self)
47137848, 20501927, 41590326, 11109717, 88613162, ss1429116614, ss1809591583, ss1938460005, ss1959936976, ss2158593363, ss2629495996, ss2704306284, ss3018557695, ss3022141430, ss3352618208, ss3652599731, ss3758880447, ss3835770863, ss3889573346, ss3939960454, ss5230643855, ss5663616889, ss5838775526	NC_000021.8:10860892:T:G	NC_000021.9:10651563:A:C	(self)
103886696, 557822611, 39121846, 124766728, 5152407068, ss3707355613, ss3982743845, ss4357096887, ss5309548414, ss5616360761, ss5790929624, ss5818265912	NC_000021.9:10651563:A:C	NC_000021.9:10651563:A:C	(self)
ss2719932, ss95817153, ss133109140	NT_029490.4:162996:T:G	NC_000021.9:10651563:A:C	(self)
370269026, 5152407068, ss5095160080	NC_000021.9:10651563:A:G	NC_000021.9:10651563:A: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 rs1848221

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

rs1848221