Name: rs9900673
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.

rs9900673

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:17645319 (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>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.334659 (88581/264690, TOPMED)
T=0.342060 (47874/139958, GnomAD)
T=0.08755 (2474/28258, 14KJPN) (+ 16 more)
T=0.37046 (6998/18890, ALFA)
T=0.08634 (1447/16760, 8.3KJPN)
T=0.2406 (1541/6404, 1000G_30x)
T=0.2374 (1189/5008, 1000G)
T=0.3578 (1603/4480, Estonian)
T=0.4351 (1677/3854, ALSPAC)
T=0.4239 (1572/3708, TWINSUK)
T=0.0681 (199/2922, KOREAN)
T=0.403 (402/998, GoNL)
C=0.482 (289/600, NorthernSweden)
T=0.301 (97/322, HapMap)
T=0.324 (70/216, Qatari)
C=0.440 (95/216, SGDP_PRJ)
T=0.090 (19/212, Vietnamese)
T=0.40 (16/40, GENOME_DK)
C=0.39 (11/28, 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	18890	C=0.62954	T=0.37046
European	Sub	14286	C=0.59674	T=0.40326
African	Sub	2946	C=0.7458	T=0.2542
African Others	Sub	114	C=0.728	T=0.272
African American	Sub	2832	C=0.7465	T=0.2535
Asian	Sub	112	C=0.902	T=0.098
East Asian	Sub	86	C=0.92	T=0.08
Other Asian	Sub	26	C=0.85	T=0.15
Latin American 1	Sub	146	C=0.726	T=0.274
Latin American 2	Sub	610	C=0.679	T=0.321
South Asian	Sub	98	C=0.81	T=0.19
Other	Sub	692	C=0.679	T=0.321

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=0.665341	T=0.334659
gnomAD - Genomes	Global	Study-wide	139958	C=0.657940	T=0.342060
gnomAD - Genomes	European	Sub	75788	C=0.59988	T=0.40012
gnomAD - Genomes	African	Sub	41938	C=0.74710	T=0.25290
gnomAD - Genomes	American	Sub	13636	C=0.66603	T=0.33397
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.5771	T=0.4229
gnomAD - Genomes	East Asian	Sub	3126	C=0.9088	T=0.0912
gnomAD - Genomes	Other	Sub	2148	C=0.6741	T=0.3259
14KJPN	JAPANESE	Study-wide	28258	C=0.91245	T=0.08755
Allele Frequency Aggregator	Total	Global	18890	C=0.62954	T=0.37046
Allele Frequency Aggregator	European	Sub	14286	C=0.59674	T=0.40326
Allele Frequency Aggregator	African	Sub	2946	C=0.7458	T=0.2542
Allele Frequency Aggregator	Other	Sub	692	C=0.679	T=0.321
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.679	T=0.321
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.726	T=0.274
Allele Frequency Aggregator	Asian	Sub	112	C=0.902	T=0.098
Allele Frequency Aggregator	South Asian	Sub	98	C=0.81	T=0.19
8.3KJPN	JAPANESE	Study-wide	16760	C=0.91366	T=0.08634
1000Genomes_30x	Global	Study-wide	6404	C=0.7594	T=0.2406
1000Genomes_30x	African	Sub	1786	C=0.7598	T=0.2402
1000Genomes_30x	Europe	Sub	1266	C=0.5900	T=0.4100
1000Genomes_30x	South Asian	Sub	1202	C=0.8236	T=0.1764
1000Genomes_30x	East Asian	Sub	1170	C=0.9145	T=0.0855
1000Genomes_30x	American	Sub	980	C=0.713	T=0.287
1000Genomes	Global	Study-wide	5008	C=0.7626	T=0.2374
1000Genomes	African	Sub	1322	C=0.7685	T=0.2315
1000Genomes	East Asian	Sub	1008	C=0.9137	T=0.0863
1000Genomes	Europe	Sub	1006	C=0.5924	T=0.4076
1000Genomes	South Asian	Sub	978	C=0.819	T=0.181
1000Genomes	American	Sub	694	C=0.699	T=0.301
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.6422	T=0.3578
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.5649	T=0.4351
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.5761	T=0.4239
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=0.9319	T=0.0681
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.597	T=0.403
Northern Sweden	ACPOP	Study-wide	600	C=0.482	T=0.518
HapMap	Global	Study-wide	322	C=0.699	T=0.301
HapMap	African	Sub	120	C=0.683	T=0.317
HapMap	American	Sub	112	C=0.518	T=0.482
HapMap	Asian	Sub	90	C=0.94	T=0.06
Qatari	Global	Study-wide	216	C=0.676	T=0.324
SGDP_PRJ	Global	Study-wide	216	C=0.440	T=0.560
A Vietnamese Genetic Variation Database	Global	Study-wide	212	C=0.910	T=0.090
The Danish reference pan genome	Danish	Study-wide	40	C=0.60	T=0.40
Siberian	Global	Study-wide	28	C=0.39	T=0.61

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.17645319C>T
GRCh37.p13 chr 17	NC_000017.10:g.17548633C>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=	T
GRCh38.p14 chr 17	NC_000017.11:g.17645319=	NC_000017.11:g.17645319C>T
GRCh37.p13 chr 17	NC_000017.10:g.17548633=	NC_000017.10:g.17548633C>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#.

66 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss13738360	Dec 05, 2003 (119)
2	CSHL-HAPMAP	ss17587107	Feb 27, 2004 (120)
3	SSAHASNP	ss21424588	Apr 05, 2004 (121)
4	ABI	ss40767574	Mar 14, 2006 (126)
5	HGSV	ss84710522	Dec 15, 2007 (130)
6	HUMANGENOME_JCVI	ss96539139	Feb 05, 2009 (130)
7	1000GENOMES	ss109686574	Jan 24, 2009 (130)
8	1000GENOMES	ss113371253	Jan 25, 2009 (130)
9	ILLUMINA-UK	ss118017457	Dec 01, 2009 (131)
10	ENSEMBL	ss136609664	Dec 01, 2009 (131)
11	COMPLETE_GENOMICS	ss167908601	Jul 04, 2010 (132)
12	COMPLETE_GENOMICS	ss169243366	Jul 04, 2010 (132)
13	COMPLETE_GENOMICS	ss171252897	Jul 04, 2010 (132)
14	BUSHMAN	ss202308218	Jul 04, 2010 (132)
15	BCM-HGSC-SUB	ss207873935	Jul 04, 2010 (132)
16	1000GENOMES	ss227491191	Jul 14, 2010 (132)
17	1000GENOMES	ss237202881	Jul 15, 2010 (132)
18	1000GENOMES	ss243510346	Jul 15, 2010 (132)
19	BL	ss255531402	May 09, 2011 (134)
20	GMI	ss282713214	May 04, 2012 (137)
21	PJP	ss292024893	May 09, 2011 (134)
22	TISHKOFF	ss565201956	Apr 25, 2013 (138)
23	SSMP	ss660993676	Apr 25, 2013 (138)
24	EVA-GONL	ss992978794	Aug 21, 2014 (142)
25	JMKIDD_LAB	ss1080974361	Aug 21, 2014 (142)
26	1000GENOMES	ss1358114336	Aug 21, 2014 (142)
27	DDI	ss1427994379	Apr 01, 2015 (144)
28	EVA_GENOME_DK	ss1578112095	Apr 01, 2015 (144)
29	EVA_UK10K_ALSPAC	ss1635394576	Apr 01, 2015 (144)
30	EVA_UK10K_TWINSUK	ss1678388609	Apr 01, 2015 (144)
31	EVA_DECODE	ss1697020727	Apr 01, 2015 (144)
32	HAMMER_LAB	ss1808729580	Sep 08, 2015 (146)
33	WEILL_CORNELL_DGM	ss1936431062	Feb 12, 2016 (147)
34	GENOMED	ss1968364865	Jul 19, 2016 (147)
35	JJLAB	ss2029002117	Sep 14, 2016 (149)
36	USC_VALOUEV	ss2157453862	Dec 20, 2016 (150)
37	HUMAN_LONGEVITY	ss2215900237	Dec 20, 2016 (150)
38	GRF	ss2702002224	Nov 08, 2017 (151)
39	GNOMAD	ss2948279060	Nov 08, 2017 (151)
40	SWEGEN	ss3015285476	Nov 08, 2017 (151)
41	BIOINF_KMB_FNS_UNIBA	ss3028321278	Nov 08, 2017 (151)
42	CSHL	ss3351678431	Nov 08, 2017 (151)
43	URBANLAB	ss3650615998	Oct 12, 2018 (152)
44	EGCUT_WGS	ss3682242662	Jul 13, 2019 (153)
45	EVA_DECODE	ss3700190117	Jul 13, 2019 (153)
46	ACPOP	ss3741920548	Jul 13, 2019 (153)
47	EVA	ss3754515549	Jul 13, 2019 (153)
48	KHV_HUMAN_GENOMES	ss3819789477	Jul 13, 2019 (153)
49	EVA	ss3834808327	Apr 27, 2020 (154)
50	EVA	ss3841013120	Apr 27, 2020 (154)
51	EVA	ss3846507961	Apr 27, 2020 (154)
52	SGDP_PRJ	ss3885455639	Apr 27, 2020 (154)
53	KRGDB	ss3935064818	Apr 27, 2020 (154)
54	TOPMED	ss5031170188	Apr 26, 2021 (155)
55	TOMMO_GENOMICS	ss5221737990	Apr 26, 2021 (155)
56	1000G_HIGH_COVERAGE	ss5302615837	Oct 16, 2022 (156)
57	EVA	ss5426717598	Oct 16, 2022 (156)
58	HUGCELL_USP	ss5495765636	Oct 16, 2022 (156)
59	EVA	ss5511737473	Oct 16, 2022 (156)
60	1000G_HIGH_COVERAGE	ss5606050968	Oct 16, 2022 (156)
61	SANFORD_IMAGENETICS	ss5659832215	Oct 16, 2022 (156)
62	TOMMO_GENOMICS	ss5777404196	Oct 16, 2022 (156)
63	YY_MCH	ss5816384439	Oct 16, 2022 (156)
64	EVA	ss5833796112	Oct 16, 2022 (156)
65	EVA	ss5913429763	Oct 16, 2022 (156)
66	EVA	ss5951242689	Oct 16, 2022 (156)
67	1000Genomes	NC_000017.10 - 17548633	Oct 12, 2018 (152)
68	1000Genomes_30x	NC_000017.11 - 17645319	Oct 16, 2022 (156)
69	The Avon Longitudinal Study of Parents and Children	NC_000017.10 - 17548633	Oct 12, 2018 (152)
70	Genetic variation in the Estonian population	NC_000017.10 - 17548633	Oct 12, 2018 (152)
71	The Danish reference pan genome	NC_000017.10 - 17548633	Apr 27, 2020 (154)
72	gnomAD - Genomes	NC_000017.11 - 17645319	Apr 26, 2021 (155)
73	Genome of the Netherlands Release 5	NC_000017.10 - 17548633	Apr 27, 2020 (154)
74	HapMap	NC_000017.11 - 17645319	Apr 27, 2020 (154)
75	KOREAN population from KRGDB	NC_000017.10 - 17548633	Apr 27, 2020 (154)
76	Northern Sweden	NC_000017.10 - 17548633	Jul 13, 2019 (153)
77	Qatari	NC_000017.10 - 17548633	Apr 27, 2020 (154)
78	SGDP_PRJ	NC_000017.10 - 17548633	Apr 27, 2020 (154)
79	Siberian	NC_000017.10 - 17548633	Apr 27, 2020 (154)
80	8.3KJPN	NC_000017.10 - 17548633	Apr 26, 2021 (155)
81	14KJPN	NC_000017.11 - 17645319	Oct 16, 2022 (156)
82	TopMed	NC_000017.11 - 17645319	Apr 26, 2021 (155)
83	UK 10K study - Twins	NC_000017.10 - 17548633	Oct 12, 2018 (152)
84	A Vietnamese Genetic Variation Database	NC_000017.10 - 17548633	Jul 13, 2019 (153)
85	ALFA	NC_000017.11 - 17645319	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).

Associated ID	History Updated (Build)
rs59370990	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss84710522, ss109686574, ss113371253, ss118017457, ss167908601, ss169243366, ss171252897, ss202308218, ss207873935, ss255531402, ss282713214, ss292024893, ss1697020727	NC_000017.9:17489357:C:T	NC_000017.11:17645318:C:T	(self)
71336602, 39562409, 27980910, 4316086, 17637640, 42242212, 15205413, 18472984, 37472619, 9970216, 79707297, 39562409, 8764324, ss227491191, ss237202881, ss243510346, ss565201956, ss660993676, ss992978794, ss1080974361, ss1358114336, ss1427994379, ss1578112095, ss1635394576, ss1678388609, ss1808729580, ss1936431062, ss1968364865, ss2029002117, ss2157453862, ss2702002224, ss2948279060, ss3015285476, ss3351678431, ss3682242662, ss3741920548, ss3754515549, ss3834808327, ss3841013120, ss3885455639, ss3935064818, ss5221737990, ss5426717598, ss5511737473, ss5659832215, ss5833796112, ss5951242689	NC_000017.10:17548632:C:T	NC_000017.11:17645318:C:T	(self)
93576903, 502931077, 1468342, 111241300, 246715850, 4927339092, ss2215900237, ss3028321278, ss3650615998, ss3700190117, ss3819789477, ss3846507961, ss5031170188, ss5302615837, ss5495765636, ss5606050968, ss5777404196, ss5816384439, ss5913429763	NC_000017.11:17645318:C:T	NC_000017.11:17645318:C:T	(self)
ss13738360, ss17587107, ss21424588	NT_010718.14:16389638:C:T	NC_000017.11:17645318:C:T	(self)
ss40767574, ss96539139, ss136609664	NT_010718.16:17152006:C:T	NC_000017.11:17645318: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 rs9900673

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

rs9900673