Name: rs16948812
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.

rs16948812

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:94225000 (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 / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.065084 (17227/264690, TOPMED)
G=0.010100 (1301/128812, ALFA)
G=0.0626 (401/6404, 1000G_30x) (+ 8 more)
G=0.0587 (294/5008, 1000G)
G=0.0003 (1/3854, ALSPAC)
G=0.0011 (4/3708, TWINSUK)
G=0.1255 (138/1100, HapMap)
G=0.002 (2/998, GoNL)
G=0.010 (6/626, Chileans)
G=0.056 (12/216, Qatari)
T=0.42 (11/26, 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	128812	T=0.989900	C=0.000000, G=0.010100
European	Sub	112516	T=0.998231	C=0.000000, G=0.001769
African	Sub	6520	T=0.8511	C=0.0000, G=0.1489
African Others	Sub	210	T=0.795	C=0.000, G=0.205
African American	Sub	6310	T=0.8529	C=0.0000, G=0.1471
Asian	Sub	670	T=1.000	C=0.000, G=0.000
East Asian	Sub	506	T=1.000	C=0.000, G=0.000
Other Asian	Sub	164	T=1.000	C=0.000, G=0.000
Latin American 1	Sub	722	T=0.971	C=0.000, G=0.029
Latin American 2	Sub	2324	T=0.9914	C=0.0000, G=0.0086
South Asian	Sub	196	T=1.000	C=0.000, G=0.000
Other	Sub	5864	T=0.9847	C=0.0000, G=0.0153

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=0.934916	G=0.065084
Allele Frequency Aggregator	Total	Global	128812	T=0.989900	C=0.000000, G=0.010100
Allele Frequency Aggregator	European	Sub	112516	T=0.998231	C=0.000000, G=0.001769
Allele Frequency Aggregator	African	Sub	6520	T=0.8511	C=0.0000, G=0.1489
Allele Frequency Aggregator	Other	Sub	5864	T=0.9847	C=0.0000, G=0.0153
Allele Frequency Aggregator	Latin American 2	Sub	2324	T=0.9914	C=0.0000, G=0.0086
Allele Frequency Aggregator	Latin American 1	Sub	722	T=0.971	C=0.000, G=0.029
Allele Frequency Aggregator	Asian	Sub	670	T=1.000	C=0.000, G=0.000
Allele Frequency Aggregator	South Asian	Sub	196	T=1.000	C=0.000, G=0.000
1000Genomes_30x	Global	Study-wide	6404	T=0.9374	G=0.0626
1000Genomes_30x	African	Sub	1786	T=0.7856	G=0.2144
1000Genomes_30x	Europe	Sub	1266	T=1.0000	G=0.0000
1000Genomes_30x	South Asian	Sub	1202	T=1.0000	G=0.0000
1000Genomes_30x	East Asian	Sub	1170	T=1.0000	G=0.0000
1000Genomes_30x	American	Sub	980	T=0.982	G=0.018
1000Genomes	Global	Study-wide	5008	T=0.9413	G=0.0587
1000Genomes	African	Sub	1322	T=0.7874	G=0.2126
1000Genomes	East Asian	Sub	1008	T=1.0000	G=0.0000
1000Genomes	Europe	Sub	1006	T=1.0000	G=0.0000
1000Genomes	South Asian	Sub	978	T=1.000	G=0.000
1000Genomes	American	Sub	694	T=0.981	G=0.019
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.9997	G=0.0003
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.9989	G=0.0011
HapMap	Global	Study-wide	1100	T=0.8745	G=0.1255
HapMap	African	Sub	692	T=0.827	G=0.173
HapMap	American	Sub	318	T=0.943	G=0.057
HapMap	Asian	Sub	90	T=1.00	G=0.00
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.998	G=0.002
Chileans	Chilean	Study-wide	626	T=0.990	G=0.010
Qatari	Global	Study-wide	216	T=0.944	G=0.056
SGDP_PRJ	Global	Study-wide	26	T=0.42	G=0.58

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 15	NC_000015.10:g.94225000T>C
GRCh38.p14 chr 15	NC_000015.10:g.94225000T>G
GRCh37.p13 chr 15	NC_000015.9:g.94768229T>C
GRCh37.p13 chr 15	NC_000015.9:g.94768229T>G

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	G
GRCh38.p14 chr 15	NC_000015.10:g.94225000=	NC_000015.10:g.94225000T>C	NC_000015.10:g.94225000T>G
GRCh37.p13 chr 15	NC_000015.9:g.94768229=	NC_000015.9:g.94768229T>C	NC_000015.9:g.94768229T>G

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#.

58 SubSNP, 13 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	PERLEGEN	ss23744877	Sep 20, 2004 (123)
2	AFFY	ss66274514	Jul 04, 2010 (132)
3	ILLUMINA	ss75273967	Dec 07, 2007 (129)
4	AFFY	ss75924963	Dec 07, 2007 (129)
5	KRIBB_YJKIM	ss83118323	Dec 15, 2007 (130)
6	ILLUMINA	ss160401319	Dec 01, 2009 (131)
7	AFFY	ss169197070	Jul 04, 2010 (132)
8	ILLUMINA	ss172675072	Jul 04, 2010 (132)
9	1000GENOMES	ss227049878	Jul 14, 2010 (132)
10	ILLUMINA	ss480117439	May 04, 2012 (137)
11	ILLUMINA	ss480126408	May 04, 2012 (137)
12	ILLUMINA	ss480822184	Sep 08, 2015 (146)
13	ILLUMINA	ss484856648	May 04, 2012 (137)
14	ILLUMINA	ss536923802	Sep 08, 2015 (146)
15	TISHKOFF	ss564667240	Apr 25, 2013 (138)
16	ILLUMINA	ss778447816	Sep 08, 2015 (146)
17	ILLUMINA	ss782874803	Sep 08, 2015 (146)
18	ILLUMINA	ss783838757	Sep 08, 2015 (146)
19	ILLUMINA	ss832129014	Sep 08, 2015 (146)
20	ILLUMINA	ss833903396	Sep 08, 2015 (146)
21	EVA-GONL	ss992105781	Aug 21, 2014 (142)
22	JMKIDD_LAB	ss1080357659	Aug 21, 2014 (142)
23	1000GENOMES	ss1354701070	Aug 21, 2014 (142)
24	EVA_UK10K_ALSPAC	ss1633659137	Apr 01, 2015 (144)
25	EVA_UK10K_TWINSUK	ss1676653170	Apr 01, 2015 (144)
26	EVA_DECODE	ss1696136030	Apr 01, 2015 (144)
27	ILLUMINA	ss1752178883	Sep 08, 2015 (146)
28	HAMMER_LAB	ss1808340376	Sep 08, 2015 (146)
29	WEILL_CORNELL_DGM	ss1935508699	Feb 12, 2016 (147)
30	HUMAN_LONGEVITY	ss2209279909	Dec 20, 2016 (150)
31	ILLUMINA	ss2633270678	Nov 08, 2017 (151)
32	GNOMAD	ss2938436030	Nov 08, 2017 (151)
33	ILLUMINA	ss3627436450	Oct 12, 2018 (152)
34	ILLUMINA	ss3631260761	Oct 12, 2018 (152)
35	ILLUMINA	ss3633108212	Oct 12, 2018 (152)
36	ILLUMINA	ss3633813354	Oct 12, 2018 (152)
37	ILLUMINA	ss3634622557	Oct 12, 2018 (152)
38	ILLUMINA	ss3635502019	Oct 12, 2018 (152)
39	ILLUMINA	ss3636313204	Oct 12, 2018 (152)
40	ILLUMINA	ss3637253348	Oct 12, 2018 (152)
41	ILLUMINA	ss3638103959	Oct 12, 2018 (152)
42	ILLUMINA	ss3640329877	Oct 12, 2018 (152)
43	ILLUMINA	ss3643086796	Oct 12, 2018 (152)
44	EVA_DECODE	ss3698504269	Jul 13, 2019 (153)
45	ILLUMINA	ss3744923073	Jul 13, 2019 (153)
46	ILLUMINA	ss3772421551	Jul 13, 2019 (153)
47	KHV_HUMAN_GENOMES	ss3818775308	Jul 13, 2019 (153)
48	EVA	ss3834388422	Apr 27, 2020 (154)
49	SGDP_PRJ	ss3883571763	Apr 27, 2020 (154)
50	EVA	ss4017718170	Apr 27, 2021 (155)
51	TOPMED	ss5002172510	Apr 27, 2021 (155)
52	1000G_HIGH_COVERAGE	ss5299533636	Oct 17, 2022 (156)
53	EVA	ss5421226850	Oct 17, 2022 (156)
54	HUGCELL_USP	ss5493136771	Oct 17, 2022 (156)
55	1000G_HIGH_COVERAGE	ss5601476545	Oct 17, 2022 (156)
56	SANFORD_IMAGENETICS	ss5658124181	Oct 17, 2022 (156)
57	EVA	ss5877121803	Oct 17, 2022 (156)
58	EVA	ss5949549919	Oct 17, 2022 (156)
59	1000Genomes	NC_000015.9 - 94768229	Oct 12, 2018 (152)
60	1000Genomes_30x	NC_000015.10 - 94225000	Oct 17, 2022 (156)
61	The Avon Longitudinal Study of Parents and Children	NC_000015.9 - 94768229	Oct 12, 2018 (152)
62	Chileans	NC_000015.9 - 94768229	Apr 27, 2020 (154)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 478075438 (NC_000015.10:94224999:T:C 0/140176) Row 478075439 (NC_000015.10:94224999:T:G 8644/140150)	-	Apr 27, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 478075438 (NC_000015.10:94224999:T:C 0/140176) Row 478075439 (NC_000015.10:94224999:T:G 8644/140150)	-	Apr 27, 2021 (155)
65	Genome of the Netherlands Release 5	NC_000015.9 - 94768229	Apr 27, 2020 (154)
66	HapMap	NC_000015.10 - 94225000	Apr 27, 2020 (154)
67	Qatari	NC_000015.9 - 94768229	Apr 27, 2020 (154)
68	SGDP_PRJ	NC_000015.9 - 94768229	Apr 27, 2020 (154)
69	TopMed	NC_000015.10 - 94225000	Apr 27, 2021 (155)
70	UK 10K study - Twins	NC_000015.9 - 94768229	Oct 12, 2018 (152)
71	ALFA	NC_000015.10 - 94225000	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).

Associated ID	History Updated (Build)
rs58498772	Feb 25, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
3124730919	NC_000015.10:94224999:T:C	NC_000015.10:94224999:T:C	(self)
ss75924963, ss169197070, ss480117439, ss1696136030, ss3643086796	NC_000015.8:92569232:T:G	NC_000015.10:94224999:T:G	(self)
67816772, 37663529, 160062, 16804400, 17550621, 35588743, 37663529, ss227049878, ss480126408, ss480822184, ss484856648, ss536923802, ss564667240, ss778447816, ss782874803, ss783838757, ss832129014, ss833903396, ss992105781, ss1080357659, ss1354701070, ss1633659137, ss1676653170, ss1752178883, ss1808340376, ss1935508699, ss2633270678, ss2938436030, ss3627436450, ss3631260761, ss3633108212, ss3633813354, ss3634622557, ss3635502019, ss3636313204, ss3637253348, ss3638103959, ss3640329877, ss3744923073, ss3772421551, ss3834388422, ss3883571763, ss4017718170, ss5421226850, ss5658124181, ss5949549919	NC_000015.9:94768228:T:G	NC_000015.10:94224999:T:G	(self)
89002480, 1320883, 217718170, 3124730919, ss2209279909, ss3698504269, ss3818775308, ss5002172510, ss5299533636, ss5493136771, ss5601476545, ss5877121803	NC_000015.10:94224999:T:G	NC_000015.10:94224999:T:G	(self)
ss66274514	NT_010194.18:70948125:T:G	NC_000015.10:94224999:T:G	(self)
ss23744877, ss75273967, ss83118323, ss160401319, ss172675072	NT_010274.17:9733755:T:G	NC_000015.10:94224999:T: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 rs16948812

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

rs16948812