Name: rs74003621
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.

rs74003621

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr16:42058 (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>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.043341 (11472/264690, TOPMED)
A=0.00117 (16/13706, ALFA)
A=0.0451 (226/5008, 1000G) (+ 4 more)
A=0.001 (1/998, GoNL)
A=0.009 (2/214, Qatari)
C=0.50 (7/14, SGDP_PRJ)
A=0.50 (7/14, SGDP_PRJ)

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	13706	C=0.99883	A=0.00117, G=0.00000, T=0.00000
European	Sub	9814	C=0.9997	A=0.0003, G=0.0000, T=0.0000
African	Sub	2278	C=0.9952	A=0.0048, G=0.0000, T=0.0000
African Others	Sub	96	C=0.98	A=0.02, G=0.00, T=0.00
African American	Sub	2182	C=0.9959	A=0.0041, G=0.0000, T=0.0000
Asian	Sub	112	C=1.000	A=0.000, G=0.000, T=0.000
East Asian	Sub	86	C=1.00	A=0.00, G=0.00, T=0.00
Other Asian	Sub	26	C=1.00	A=0.00, G=0.00, T=0.00
Latin American 1	Sub	140	C=1.000	A=0.000, G=0.000, T=0.000
Latin American 2	Sub	608	C=1.000	A=0.000, G=0.000, T=0.000
South Asian	Sub	98	C=1.00	A=0.00, G=0.00, T=0.00
Other	Sub	656	C=0.997	A=0.003, G=0.000, T=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	C=0.956659	A=0.043341
Allele Frequency Aggregator	Total	Global	13706	C=0.99883	A=0.00117, G=0.00000, T=0.00000
Allele Frequency Aggregator	European	Sub	9814	C=0.9997	A=0.0003, G=0.0000, T=0.0000
Allele Frequency Aggregator	African	Sub	2278	C=0.9952	A=0.0048, G=0.0000, T=0.0000
Allele Frequency Aggregator	Other	Sub	656	C=0.997	A=0.003, G=0.000, T=0.000
Allele Frequency Aggregator	Latin American 2	Sub	608	C=1.000	A=0.000, G=0.000, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	140	C=1.000	A=0.000, G=0.000, T=0.000
Allele Frequency Aggregator	Asian	Sub	112	C=1.000	A=0.000, G=0.000, T=0.000
Allele Frequency Aggregator	South Asian	Sub	98	C=1.00	A=0.00, G=0.00, T=0.00
1000Genomes	Global	Study-wide	5008	C=0.9549	A=0.0451
1000Genomes	African	Sub	1322	C=0.8328	A=0.1672
1000Genomes	East Asian	Sub	1008	C=1.0000	A=0.0000
1000Genomes	Europe	Sub	1006	C=0.9990	A=0.0010
1000Genomes	South Asian	Sub	978	C=1.000	A=0.000
1000Genomes	American	Sub	694	C=0.994	A=0.006
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.999	A=0.001
Qatari	Global	Study-wide	214	C=0.991	A=0.009
SGDP_PRJ	Global	Study-wide	14	C=0.50	A=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 16	NC_000016.10:g.42058C>A
GRCh38.p14 chr 16	NC_000016.10:g.42058C>G
GRCh38.p14 chr 16	NC_000016.10:g.42058C>T
GRCh37.p13 chr 16	NC_000016.9:g.92058C>A
GRCh37.p13 chr 16	NC_000016.9:g.92058C>G
GRCh37.p13 chr 16	NC_000016.9:g.92058C>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=	A	G	T
GRCh38.p14 chr 16	NC_000016.10:g.42058=	NC_000016.10:g.42058C>A	NC_000016.10:g.42058C>G	NC_000016.10:g.42058C>T
GRCh37.p13 chr 16	NC_000016.9:g.92058=	NC_000016.9:g.92058C>A	NC_000016.9:g.92058C>G	NC_000016.9:g.92058C>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#.

26 SubSNP, 13 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ILLUMINA-UK	ss118150380	Feb 14, 2009 (130)
2	1000GENOMES	ss227085816	Jul 14, 2010 (132)
3	TISHKOFF	ss564710045	Apr 25, 2013 (138)
4	EVA-GONL	ss992173278	Aug 21, 2014 (142)
5	1000GENOMES	ss1354951016	Aug 21, 2014 (142)
6	DDI	ss1427745429	Apr 01, 2015 (144)
7	EVA_UK10K_ALSPAC	ss1633790828	Apr 01, 2015 (144)
8	EVA_UK10K_ALSPAC	ss1633790829	Apr 01, 2015 (144)
9	EVA_UK10K_TWINSUK	ss1676784861	Apr 01, 2015 (144)
10	EVA_UK10K_TWINSUK	ss1676784862	Apr 01, 2015 (144)
11	EVA_DECODE	ss1696205831	Apr 01, 2015 (144)
12	HAMMER_LAB	ss1808371057	Sep 08, 2015 (146)
13	WEILL_CORNELL_DGM	ss1935578326	Feb 12, 2016 (147)
14	HUMAN_LONGEVITY	ss2209766396	Dec 20, 2016 (150)
15	GNOMAD	ss2939123336	Nov 08, 2017 (151)
16	KHV_HUMAN_GENOMES	ss3818854526	Jul 13, 2019 (153)
17	EVA	ss3834421847	Apr 27, 2020 (154)
18	SGDP_PRJ	ss3883708587	Apr 27, 2020 (154)
19	TOPMED	ss5004237385	Apr 26, 2021 (155)
20	1000G_HIGH_COVERAGE	ss5299753587	Oct 16, 2022 (156)
21	1000G_HIGH_COVERAGE	ss5299753588	Oct 16, 2022 (156)
22	EVA	ss5421630740	Oct 16, 2022 (156)
23	HUGCELL_USP	ss5493331002	Oct 16, 2022 (156)
24	SANFORD_IMAGENETICS	ss5658253201	Oct 16, 2022 (156)
25	EVA	ss5845956231	Oct 16, 2022 (156)
26	EVA	ss5949680463	Oct 16, 2022 (156)
27	1000Genomes	NC_000016.9 - 92058	Oct 12, 2018 (152)
28	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 37808153 (NC_000016.9:92057:C:C 3853/3854, NC_000016.9:92057:C:A 1/3854) Row 37808154 (NC_000016.9:92057:C:C 3854/3854, NC_000016.9:92057:C:T 0/3854)	-	Oct 12, 2018 (152)
29	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 37808153 (NC_000016.9:92057:C:C 3853/3854, NC_000016.9:92057:C:A 1/3854) Row 37808154 (NC_000016.9:92057:C:C 3854/3854, NC_000016.9:92057:C:T 0/3854)	-	Oct 12, 2018 (152)
30	gnomAD - Genomes Submission ignored due to conflicting rows: Row 479813855 (NC_000016.10:42057:C:A 5783/139712) Row 479813856 (NC_000016.10:42057:C:G 126/139740) Row 479813857 (NC_000016.10:42057:C:T 2/139740)	-	Apr 26, 2021 (155)
31	gnomAD - Genomes Submission ignored due to conflicting rows: Row 479813855 (NC_000016.10:42057:C:A 5783/139712) Row 479813856 (NC_000016.10:42057:C:G 126/139740) Row 479813857 (NC_000016.10:42057:C:T 2/139740)	-	Apr 26, 2021 (155)
32	gnomAD - Genomes Submission ignored due to conflicting rows: Row 479813855 (NC_000016.10:42057:C:A 5783/139712) Row 479813856 (NC_000016.10:42057:C:G 126/139740) Row 479813857 (NC_000016.10:42057:C:T 2/139740)	-	Apr 26, 2021 (155)
33	Genome of the Netherlands Release 5	NC_000016.9 - 92058	Apr 27, 2020 (154)
34	Qatari	NC_000016.9 - 92058	Apr 27, 2020 (154)
35	SGDP_PRJ	NC_000016.9 - 92058	Apr 27, 2020 (154)
36	TopMed	NC_000016.10 - 42058	Apr 26, 2021 (155)
37	UK 10K study - Twins Submission ignored due to conflicting rows: Row 37808153 (NC_000016.9:92057:C:C 3707/3708, NC_000016.9:92057:C:A 1/3708) Row 37808154 (NC_000016.9:92057:C:C 3707/3708, NC_000016.9:92057:C:T 1/3708)	-	Oct 12, 2018 (152)
38	UK 10K study - Twins Submission ignored due to conflicting rows: Row 37808153 (NC_000016.9:92057:C:C 3707/3708, NC_000016.9:92057:C:A 1/3708) Row 37808154 (NC_000016.9:92057:C:C 3707/3708, NC_000016.9:92057:C:T 1/3708)	-	Oct 12, 2018 (152)
39	ALFA	NC_000016.10 - 42058	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
ss118150380	NC_000016.8:32057:C:A	NC_000016.10:42057:C:A	(self)
68075607, 16869876, 17620248, 35725567, ss227085816, ss564710045, ss992173278, ss1354951016, ss1427745429, ss1633790828, ss1676784861, ss1808371057, ss1935578326, ss2939123336, ss3834421847, ss3883708587, ss5421630740, ss5658253201, ss5949680463	NC_000016.9:92057:C:A	NC_000016.10:42057:C:A	(self)
219783046, 17557607601, ss2209766396, ss3818854526, ss5004237385, ss5299753587, ss5493331002	NC_000016.10:42057:C:A	NC_000016.10:42057:C:A	(self)
ss1696205831	NC_000016.8:32057:C:G	NC_000016.10:42057:C:G	(self)
ss2939123336, ss5658253201, ss5845956231	NC_000016.9:92057:C:G	NC_000016.10:42057:C:G	(self)
17557607601, ss2209766396, ss5299753588	NC_000016.10:42057:C:G	NC_000016.10:42057:C:G	(self)
ss1633790829, ss1676784862	NC_000016.9:92057:C:T	NC_000016.10:42057:C:T	(self)
17557607601, ss2209766396	NC_000016.10:42057:C:T	NC_000016.10:42057: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 rs74003621

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

rs74003621