Name: rs9831754
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.

rs9831754

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr3:78304441 (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>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.195402 (51721/264690, TOPMED)
G=0.219173 (37501/171102, ALFA)
G=0.192957 (27017/140016, GnomAD) (+ 20 more)
G=0.21576 (16980/78698, PAGE_STUDY)
G=0.41645 (11768/28258, 14KJPN)
G=0.42058 (7049/16760, 8.3KJPN)
G=0.2341 (1499/6404, 1000G_30x)
G=0.2432 (1218/5008, 1000G)
G=0.2190 (981/4480, Estonian)
G=0.2221 (856/3854, ALSPAC)
G=0.2317 (859/3708, TWINSUK)
G=0.4611 (1350/2928, KOREAN)
G=0.1926 (362/1880, HapMap)
G=0.4580 (839/1832, Korea1K)
G=0.260 (259/998, GoNL)
G=0.457 (360/788, PRJEB37584)
G=0.355 (222/626, Chileans)
G=0.292 (175/600, NorthernSweden)
T=0.357 (92/258, SGDP_PRJ)
G=0.106 (23/216, Qatari)
G=0.13 (8/60, Ancient Sardinia)
G=0.17 (7/40, GENOME_DK)
T=0.36 (10/28, 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	171224	T=0.780872	G=0.219128
European	Sub	148800	T=0.790276	G=0.209724
African	Sub	4354	T=0.8955	G=0.1045
African Others	Sub	168	T=0.952	G=0.048
African American	Sub	4186	T=0.8932	G=0.1068
Asian	Sub	6292	T=0.5435	G=0.4565
East Asian	Sub	4474	T=0.5340	G=0.4660
Other Asian	Sub	1818	T=0.5671	G=0.4329
Latin American 1	Sub	442	T=0.830	G=0.170
Latin American 2	Sub	950	T=0.664	G=0.336
South Asian	Sub	280	T=0.779	G=0.221
Other	Sub	10106	T=0.74965	G=0.25035

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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	T=0.804598	G=0.195402
Allele Frequency Aggregator	Total	Global	171102	T=0.780827	G=0.219173
Allele Frequency Aggregator	European	Sub	148696	T=0.790257	G=0.209743
Allele Frequency Aggregator	Other	Sub	10102	T=0.74955	G=0.25045
Allele Frequency Aggregator	Asian	Sub	6292	T=0.5435	G=0.4565
Allele Frequency Aggregator	African	Sub	4340	T=0.8952	G=0.1048
Allele Frequency Aggregator	Latin American 2	Sub	950	T=0.664	G=0.336
Allele Frequency Aggregator	Latin American 1	Sub	442	T=0.830	G=0.170
Allele Frequency Aggregator	South Asian	Sub	280	T=0.779	G=0.221
gnomAD - Genomes	Global	Study-wide	140016	T=0.807043	G=0.192957
gnomAD - Genomes	European	Sub	75816	T=0.77610	G=0.22390
gnomAD - Genomes	African	Sub	41998	T=0.90516	G=0.09484
gnomAD - Genomes	American	Sub	13624	T=0.71814	G=0.28186
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	T=0.8605	G=0.1395
gnomAD - Genomes	East Asian	Sub	3110	T=0.5585	G=0.4415
gnomAD - Genomes	Other	Sub	2150	T=0.8219	G=0.1781
The PAGE Study	Global	Study-wide	78698	T=0.78424	G=0.21576
The PAGE Study	AfricanAmerican	Sub	32516	T=0.90657	G=0.09343
The PAGE Study	Mexican	Sub	10810	T=0.64792	G=0.35208
The PAGE Study	Asian	Sub	8316	T=0.5780	G=0.4220
The PAGE Study	PuertoRican	Sub	7918	T=0.8234	G=0.1766
The PAGE Study	NativeHawaiian	Sub	4534	T=0.6028	G=0.3972
The PAGE Study	Cuban	Sub	4230	T=0.8215	G=0.1785
The PAGE Study	Dominican	Sub	3828	T=0.8498	G=0.1502
The PAGE Study	CentralAmerican	Sub	2450	T=0.6616	G=0.3384
The PAGE Study	SouthAmerican	Sub	1980	T=0.6616	G=0.3384
The PAGE Study	NativeAmerican	Sub	1260	T=0.7095	G=0.2905
The PAGE Study	SouthAsian	Sub	856	T=0.728	G=0.272
14KJPN	JAPANESE	Study-wide	28258	T=0.58355	G=0.41645
8.3KJPN	JAPANESE	Study-wide	16760	T=0.57942	G=0.42058
1000Genomes_30x	Global	Study-wide	6404	T=0.7659	G=0.2341
1000Genomes_30x	African	Sub	1786	T=0.9474	G=0.0526
1000Genomes_30x	Europe	Sub	1266	T=0.7962	G=0.2038
1000Genomes_30x	South Asian	Sub	1202	T=0.7188	G=0.2812
1000Genomes_30x	East Asian	Sub	1170	T=0.5821	G=0.4179
1000Genomes_30x	American	Sub	980	T=0.673	G=0.327
1000Genomes	Global	Study-wide	5008	T=0.7568	G=0.2432
1000Genomes	African	Sub	1322	T=0.9448	G=0.0552
1000Genomes	East Asian	Sub	1008	T=0.5744	G=0.4256
1000Genomes	Europe	Sub	1006	T=0.7982	G=0.2018
1000Genomes	South Asian	Sub	978	T=0.704	G=0.296
1000Genomes	American	Sub	694	T=0.677	G=0.323
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.7810	G=0.2190
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.7779	G=0.2221
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.7683	G=0.2317
KOREAN population from KRGDB	KOREAN	Study-wide	2928	T=0.5389	G=0.4611
HapMap	Global	Study-wide	1880	T=0.8074	G=0.1926
HapMap	American	Sub	760	T=0.733	G=0.267
HapMap	African	Sub	690	T=0.959	G=0.041
HapMap	Asian	Sub	254	T=0.571	G=0.429
HapMap	Europe	Sub	176	T=0.875	G=0.125
Korean Genome Project	KOREAN	Study-wide	1832	T=0.5420	G=0.4580
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.740	G=0.260
CNV burdens in cranial meningiomas	Global	Study-wide	788	T=0.543	G=0.457
CNV burdens in cranial meningiomas	CRM	Sub	788	T=0.543	G=0.457
Chileans	Chilean	Study-wide	626	T=0.645	G=0.355
Northern Sweden	ACPOP	Study-wide	600	T=0.708	G=0.292
SGDP_PRJ	Global	Study-wide	258	T=0.357	G=0.643
Qatari	Global	Study-wide	216	T=0.894	G=0.106
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	60	T=0.87	G=0.13
The Danish reference pan genome	Danish	Study-wide	40	T=0.82	G=0.17
Siberian	Global	Study-wide	28	T=0.36	G=0.64

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.78304441T>G
GRCh37.p13 chr 3	NC_000003.11:g.78353591T>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=	G
GRCh38.p14 chr 3	NC_000003.12:g.78304441=	NC_000003.12:g.78304441T>G
GRCh37.p13 chr 3	NC_000003.11:g.78353591=	NC_000003.11:g.78353591T>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#.

85 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss13664800	Dec 05, 2003 (119)
2	PERLEGEN	ss23892126	Sep 20, 2004 (123)
3	ABI	ss44446644	Mar 14, 2006 (126)
4	KRIBB_YJKIM	ss82616227	Dec 16, 2007 (130)
5	HGSV	ss82950625	Dec 15, 2007 (130)
6	HUMANGENOME_JCVI	ss96026334	Feb 05, 2009 (130)
7	BGI	ss103954376	Dec 01, 2009 (131)
8	1000GENOMES	ss112009616	Jan 25, 2009 (130)
9	ENSEMBL	ss143422304	Dec 01, 2009 (131)
10	COMPLETE_GENOMICS	ss166799509	Jul 04, 2010 (132)
11	BCM-HGSC-SUB	ss206068992	Jul 04, 2010 (132)
12	1000GENOMES	ss220239420	Jul 14, 2010 (132)
13	1000GENOMES	ss231895269	Jul 14, 2010 (132)
14	1000GENOMES	ss239294842	Jul 15, 2010 (132)
15	GMI	ss277209247	May 04, 2012 (137)
16	GMI	ss284684302	Apr 25, 2013 (138)
17	PJP	ss292836200	May 09, 2011 (134)
18	EXOME_CHIP	ss491342609	May 04, 2012 (137)
19	SSMP	ss650422871	Apr 25, 2013 (138)
20	ILLUMINA	ss780687623	Sep 08, 2015 (146)
21	ILLUMINA	ss783361187	Sep 08, 2015 (146)
22	EVA-GONL	ss978789142	Aug 21, 2014 (142)
23	JMKIDD_LAB	ss1070556758	Aug 21, 2014 (142)
24	1000GENOMES	ss1304749768	Aug 21, 2014 (142)
25	DDI	ss1429478812	Apr 01, 2015 (144)
26	EVA_GENOME_DK	ss1580038706	Apr 01, 2015 (144)
27	EVA_UK10K_ALSPAC	ss1607470041	Apr 01, 2015 (144)
28	EVA_UK10K_TWINSUK	ss1650464074	Apr 01, 2015 (144)
29	EVA_SVP	ss1712590402	Apr 01, 2015 (144)
30	ILLUMINA	ss1752484589	Sep 08, 2015 (146)
31	HAMMER_LAB	ss1799557523	Sep 08, 2015 (146)
32	ILLUMINA	ss1917769563	Feb 12, 2016 (147)
33	WEILL_CORNELL_DGM	ss1922025392	Feb 12, 2016 (147)
34	ILLUMINA	ss1946088109	Feb 12, 2016 (147)
35	ILLUMINA	ss1958581288	Feb 12, 2016 (147)
36	GENOMED	ss1969437859	Jul 19, 2016 (147)
37	JJLAB	ss2021574564	Sep 14, 2016 (149)
38	USC_VALOUEV	ss2149662494	Dec 20, 2016 (150)
39	HUMAN_LONGEVITY	ss2253094388	Dec 20, 2016 (150)
40	SYSTEMSBIOZJU	ss2625289334	Nov 08, 2017 (151)
41	GRF	ss2705052520	Nov 08, 2017 (151)
42	GNOMAD	ss2795070866	Nov 08, 2017 (151)
43	SWEGEN	ss2992622556	Nov 08, 2017 (151)
44	ILLUMINA	ss3022258930	Nov 08, 2017 (151)
45	BIOINF_KMB_FNS_UNIBA	ss3024551931	Nov 08, 2017 (151)
46	CSHL	ss3345105488	Nov 08, 2017 (151)
47	ILLUMINA	ss3628704832	Oct 12, 2018 (152)
48	ILLUMINA	ss3634904018	Oct 12, 2018 (152)
49	ILLUMINA	ss3640611319	Oct 12, 2018 (152)
50	ILLUMINA	ss3644820721	Oct 12, 2018 (152)
51	URBANLAB	ss3647446644	Oct 12, 2018 (152)
52	ILLUMINA	ss3652735705	Oct 12, 2018 (152)
53	EGCUT_WGS	ss3660536550	Jul 13, 2019 (153)
54	EVA_DECODE	ss3709597362	Jul 13, 2019 (153)
55	ILLUMINA	ss3726031971	Jul 13, 2019 (153)
56	ACPOP	ss3730045392	Jul 13, 2019 (153)
57	ILLUMINA	ss3744512794	Jul 13, 2019 (153)
58	ILLUMINA	ss3745203986	Jul 13, 2019 (153)
59	EVA	ss3760265135	Jul 13, 2019 (153)
60	PAGE_CC	ss3771044771	Jul 13, 2019 (153)
61	ILLUMINA	ss3772699373	Jul 13, 2019 (153)
62	KHV_HUMAN_GENOMES	ss3803396607	Jul 13, 2019 (153)
63	EVA	ss3827900707	Apr 25, 2020 (154)
64	SGDP_PRJ	ss3856237916	Apr 25, 2020 (154)
65	KRGDB	ss3902155879	Apr 25, 2020 (154)
66	KOGIC	ss3951635962	Apr 25, 2020 (154)
67	EVA	ss3984510622	Apr 26, 2021 (155)
68	EVA	ss3985003425	Apr 26, 2021 (155)
69	TOPMED	ss4571151935	Apr 26, 2021 (155)
70	TOMMO_GENOMICS	ss5159995072	Apr 26, 2021 (155)
71	1000G_HIGH_COVERAGE	ss5254738311	Oct 12, 2022 (156)
72	EVA	ss5314871462	Oct 12, 2022 (156)
73	EVA	ss5341023752	Oct 12, 2022 (156)
74	HUGCELL_USP	ss5454056134	Oct 12, 2022 (156)
75	EVA	ss5507050526	Oct 12, 2022 (156)
76	1000G_HIGH_COVERAGE	ss5533452139	Oct 12, 2022 (156)
77	SANFORD_IMAGENETICS	ss5624523526	Oct 12, 2022 (156)
78	SANFORD_IMAGENETICS	ss5632499123	Oct 12, 2022 (156)
79	TOMMO_GENOMICS	ss5691916225	Oct 12, 2022 (156)
80	YY_MCH	ss5803904688	Oct 12, 2022 (156)
81	EVA	ss5826009514	Oct 12, 2022 (156)
82	EVA	ss5847971854	Oct 12, 2022 (156)
83	EVA	ss5853689706	Oct 12, 2022 (156)
84	EVA	ss5869586256	Oct 12, 2022 (156)
85	EVA	ss5960808530	Oct 12, 2022 (156)
86	1000Genomes	NC_000003.11 - 78353591	Oct 12, 2018 (152)
87	1000Genomes_30x	NC_000003.12 - 78304441	Oct 12, 2022 (156)
88	The Avon Longitudinal Study of Parents and Children	NC_000003.11 - 78353591	Oct 12, 2018 (152)
89	Chileans	NC_000003.11 - 78353591	Apr 25, 2020 (154)
90	Genetic variation in the Estonian population	NC_000003.11 - 78353591	Oct 12, 2018 (152)
91	The Danish reference pan genome	NC_000003.11 - 78353591	Apr 25, 2020 (154)
92	gnomAD - Genomes	NC_000003.12 - 78304441	Apr 26, 2021 (155)
93	Genome of the Netherlands Release 5	NC_000003.11 - 78353591	Apr 25, 2020 (154)
94	HapMap	NC_000003.12 - 78304441	Apr 25, 2020 (154)
95	KOREAN population from KRGDB	NC_000003.11 - 78353591	Apr 25, 2020 (154)
96	Korean Genome Project	NC_000003.12 - 78304441	Apr 25, 2020 (154)
97	Northern Sweden	NC_000003.11 - 78353591	Jul 13, 2019 (153)
98	The PAGE Study	NC_000003.12 - 78304441	Jul 13, 2019 (153)
99	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000003.11 - 78353591	Apr 26, 2021 (155)
100	CNV burdens in cranial meningiomas	NC_000003.11 - 78353591	Apr 26, 2021 (155)
101	Qatari	NC_000003.11 - 78353591	Apr 25, 2020 (154)
102	SGDP_PRJ	NC_000003.11 - 78353591	Apr 25, 2020 (154)
103	Siberian	NC_000003.11 - 78353591	Apr 25, 2020 (154)
104	8.3KJPN	NC_000003.11 - 78353591	Apr 26, 2021 (155)
105	14KJPN	NC_000003.12 - 78304441	Oct 12, 2022 (156)
106	TopMed	NC_000003.12 - 78304441	Apr 26, 2021 (155)
107	UK 10K study - Twins	NC_000003.11 - 78353591	Oct 12, 2018 (152)
108	ALFA	NC_000003.12 - 78304441	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)
rs59265223	May 25, 2008 (130)
rs61324737	Feb 27, 2009 (130)
rs111169755	Sep 17, 2011 (135)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss82950625	NC_000003.9:78436280:T:G	NC_000003.12:78304440:T:G	(self)
ss112009616, ss166799509, ss206068992, ss277209247, ss284684302, ss292836200, ss1712590402	NC_000003.10:78436280:T:G	NC_000003.12:78304440:T:G	(self)
15962085, 8886633, 289600, 6274798, 6203645, 3899792, 9333273, 3330257, 229352, 59970, 4067322, 8254896, 2178848, 17964379, 8886633, ss220239420, ss231895269, ss239294842, ss491342609, ss650422871, ss780687623, ss783361187, ss978789142, ss1070556758, ss1304749768, ss1429478812, ss1580038706, ss1607470041, ss1650464074, ss1752484589, ss1799557523, ss1917769563, ss1922025392, ss1946088109, ss1958581288, ss1969437859, ss2021574564, ss2149662494, ss2625289334, ss2705052520, ss2795070866, ss2992622556, ss3022258930, ss3345105488, ss3628704832, ss3634904018, ss3640611319, ss3644820721, ss3652735705, ss3660536550, ss3730045392, ss3744512794, ss3745203986, ss3760265135, ss3772699373, ss3827900707, ss3856237916, ss3902155879, ss3984510622, ss3985003425, ss5159995072, ss5314871462, ss5341023752, ss5507050526, ss5624523526, ss5632499123, ss5826009514, ss5847971854, ss5960808530	NC_000003.11:78353590:T:G	NC_000003.12:78304440:T:G	(self)
20978074, 113253283, 2396025, 8013963, 266240, 25753329, 408529490, 14302869325, ss2253094388, ss3024551931, ss3647446644, ss3709597362, ss3726031971, ss3771044771, ss3803396607, ss3951635962, ss4571151935, ss5254738311, ss5454056134, ss5533452139, ss5691916225, ss5803904688, ss5853689706, ss5869586256	NC_000003.12:78304440:T:G	NC_000003.12:78304440:T:G	(self)
ss13664800	NT_022459.13:12048278:T:G	NC_000003.12:78304440:T:G	(self)
ss23892126, ss44446644, ss82616227, ss96026334, ss103954376, ss143422304	NT_022459.15:12083320:T:G	NC_000003.12:78304440: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 rs9831754

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs9831754