Name: rs923484
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.

rs923484

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:62466495 (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: G>C / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.202728 (53660/264690, TOPMED)
G=0.49579 (14010/28258, 14KJPN)
G=0.17752 (3664/20640, ALFA) (+ 16 more)
T=0.49803 (8347/16760, 8.3KJPN)
G=0.2274 (1456/6404, 1000G_30x)
G=0.2268 (1136/5008, 1000G)
G=0.1143 (512/4480, Estonian)
G=0.1580 (609/3854, ALSPAC)
G=0.1405 (521/3708, TWINSUK)
G=0.4191 (1228/2930, KOREAN)
G=0.4329 (793/1832, Korea1K)
G=0.146 (146/998, GoNL)
G=0.115 (69/600, NorthernSweden)
G=0.180 (94/522, SGDP_PRJ)
G=0.282 (92/326, HapMap)
G=0.130 (28/216, Qatari)
G=0.283 (60/212, Vietnamese)
G=0.27 (14/52, Siberian)
G=0.25 (10/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LOC105370529 : Intron Variant
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	20640	G=0.17752	C=0.00000, T=0.82248
European	Sub	17970	G=0.15787	C=0.00000, T=0.84213
African	Sub	1066	G=0.4099	C=0.0000, T=0.5901
African Others	Sub	48	G=0.44	C=0.00, T=0.56
African American	Sub	1018	G=0.4086	C=0.0000, T=0.5914
Asian	Sub	30	G=0.50	C=0.00, T=0.50
East Asian	Sub	24	G=0.46	C=0.00, T=0.54
Other Asian	Sub	6	G=0.7	C=0.0, T=0.3
Latin American 1	Sub	32	G=0.47	C=0.00, T=0.53
Latin American 2	Sub	114	G=0.333	C=0.000, T=0.667
South Asian	Sub	22	G=0.27	C=0.00, T=0.73
Other	Sub	1406	G=0.2248	C=0.0000, T=0.7752

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	G=0.202728	T=0.797272
14KJPN	JAPANESE	Study-wide	28258	G=0.49579	T=0.50421
Allele Frequency Aggregator	Total	Global	20640	G=0.17752	C=0.00000, T=0.82248
Allele Frequency Aggregator	European	Sub	17970	G=0.15787	C=0.00000, T=0.84213
Allele Frequency Aggregator	Other	Sub	1406	G=0.2248	C=0.0000, T=0.7752
Allele Frequency Aggregator	African	Sub	1066	G=0.4099	C=0.0000, T=0.5901
Allele Frequency Aggregator	Latin American 2	Sub	114	G=0.333	C=0.000, T=0.667
Allele Frequency Aggregator	Latin American 1	Sub	32	G=0.47	C=0.00, T=0.53
Allele Frequency Aggregator	Asian	Sub	30	G=0.50	C=0.00, T=0.50
Allele Frequency Aggregator	South Asian	Sub	22	G=0.27	C=0.00, T=0.73
8.3KJPN	JAPANESE	Study-wide	16760	G=0.50197	T=0.49803
1000Genomes_30x	Global	Study-wide	6404	G=0.2274	T=0.7726
1000Genomes_30x	African	Sub	1786	G=0.2738	T=0.7262
1000Genomes_30x	Europe	Sub	1266	G=0.1896	T=0.8104
1000Genomes_30x	South Asian	Sub	1202	G=0.1140	T=0.8860
1000Genomes_30x	East Asian	Sub	1170	G=0.3615	T=0.6385
1000Genomes_30x	American	Sub	980	G=0.170	T=0.830
1000Genomes	Global	Study-wide	5008	G=0.2268	T=0.7732
1000Genomes	African	Sub	1322	G=0.2693	T=0.7307
1000Genomes	East Asian	Sub	1008	G=0.3631	T=0.6369
1000Genomes	Europe	Sub	1006	G=0.1948	T=0.8052
1000Genomes	South Asian	Sub	978	G=0.105	T=0.895
1000Genomes	American	Sub	694	G=0.166	T=0.834
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.1143	T=0.8857
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.1580	T=0.8420
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.1405	T=0.8595
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.4191	T=0.5809
Korean Genome Project	KOREAN	Study-wide	1832	G=0.4329	T=0.5671
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.146	T=0.854
Northern Sweden	ACPOP	Study-wide	600	G=0.115	T=0.885
SGDP_PRJ	Global	Study-wide	522	G=0.180	T=0.820
HapMap	Global	Study-wide	326	G=0.282	T=0.718
HapMap	American	Sub	120	G=0.167	T=0.833
HapMap	African	Sub	116	G=0.207	T=0.793
HapMap	Asian	Sub	90	G=0.53	T=0.47
Qatari	Global	Study-wide	216	G=0.130	T=0.870
A Vietnamese Genetic Variation Database	Global	Study-wide	212	G=0.283	T=0.717
Siberian	Global	Study-wide	52	G=0.27	T=0.73
The Danish reference pan genome	Danish	Study-wide	40	G=0.25	T=0.75

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 14	NC_000014.9:g.62466495G>C
GRCh38.p14 chr 14	NC_000014.9:g.62466495G>T
GRCh37.p13 chr 14	NC_000014.8:g.62933213G>C
GRCh37.p13 chr 14	NC_000014.8:g.62933213G>T

Gene: LOC105370529, uncharacterized LOC105370529 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105370529 transcript	XR_943932.3:n.	N/A	Intron Variant

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	G=	C	T
GRCh38.p14 chr 14	NC_000014.9:g.62466495=	NC_000014.9:g.62466495G>C	NC_000014.9:g.62466495G>T
GRCh37.p13 chr 14	NC_000014.8:g.62933213=	NC_000014.8:g.62933213G>C	NC_000014.8:g.62933213G>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#.

89 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss1360527	Oct 05, 2000 (86)
2	TSC-CSHL	ss5480927	Oct 08, 2002 (108)
3	BCM_SSAHASNP	ss10743244	Jul 11, 2003 (116)
4	CSHL-HAPMAP	ss19983790	Feb 27, 2004 (120)
5	SSAHASNP	ss21192863	Apr 05, 2004 (121)
6	ABI	ss40511344	Mar 15, 2006 (126)
7	HGSV	ss82882282	Dec 14, 2007 (130)
8	BCMHGSC_JDW	ss89972477	Mar 24, 2008 (129)
9	HUMANGENOME_JCVI	ss96864202	Feb 03, 2009 (130)
10	BGI	ss106393598	Feb 03, 2009 (130)
11	1000GENOMES	ss108396235	Jan 23, 2009 (130)
12	1000GENOMES	ss113418648	Jan 25, 2009 (130)
13	ILLUMINA-UK	ss118526204	Feb 14, 2009 (130)
14	ENSEMBL	ss134012568	Dec 01, 2009 (131)
15	ENSEMBL	ss137017653	Dec 01, 2009 (131)
16	GMI	ss155890755	Dec 01, 2009 (131)
17	COMPLETE_GENOMICS	ss168189285	Jul 04, 2010 (132)
18	COMPLETE_GENOMICS	ss169721651	Jul 04, 2010 (132)
19	COMPLETE_GENOMICS	ss171231550	Jul 04, 2010 (132)
20	BUSHMAN	ss200166936	Jul 04, 2010 (132)
21	BCM-HGSC-SUB	ss206834703	Jul 04, 2010 (132)
22	1000GENOMES	ss226608436	Jul 14, 2010 (132)
23	1000GENOMES	ss236570795	Jul 15, 2010 (132)
24	1000GENOMES	ss242999239	Jul 15, 2010 (132)
25	BL	ss255044078	May 09, 2011 (134)
26	GMI	ss282032824	May 04, 2012 (137)
27	GMI	ss286855447	Apr 25, 2013 (138)
28	PJP	ss291615679	May 09, 2011 (134)
29	ILLUMINA	ss482785253	May 04, 2012 (137)
30	ILLUMINA	ss483316303	May 04, 2012 (137)
31	ILLUMINA	ss534774372	Sep 08, 2015 (146)
32	TISHKOFF	ss564138431	Apr 25, 2013 (138)
33	SSMP	ss659821911	Apr 25, 2013 (138)
34	ILLUMINA	ss780071110	Sep 08, 2015 (146)
35	ILLUMINA	ss781876828	Sep 08, 2015 (146)
36	ILLUMINA	ss835552854	Sep 08, 2015 (146)
37	EVA-GONL	ss991224655	Aug 21, 2014 (142)
38	JMKIDD_LAB	ss1079715437	Aug 21, 2014 (142)
39	1000GENOMES	ss1351305906	Aug 21, 2014 (142)
40	DDI	ss1427447890	Apr 01, 2015 (144)
41	EVA_GENOME_DK	ss1577302254	Apr 01, 2015 (144)
42	EVA_UK10K_ALSPAC	ss1631894540	Apr 01, 2015 (144)
43	EVA_UK10K_TWINSUK	ss1674888573	Apr 01, 2015 (144)
44	EVA_DECODE	ss1695227478	Apr 01, 2015 (144)
45	HAMMER_LAB	ss1807956656	Sep 08, 2015 (146)
46	WEILL_CORNELL_DGM	ss1934599242	Feb 12, 2016 (147)
47	GENOMED	ss1967980293	Jul 19, 2016 (147)
48	JJLAB	ss2028078647	Sep 14, 2016 (149)
49	USC_VALOUEV	ss2156454814	Dec 20, 2016 (150)
50	HUMAN_LONGEVITY	ss2202604648	Dec 20, 2016 (150)
51	ILLUMINA	ss2633160501	Nov 08, 2017 (151)
52	GRF	ss2700881759	Nov 08, 2017 (151)
53	GNOMAD	ss2928552656	Nov 08, 2017 (151)
54	SWEGEN	ss3012322296	Nov 08, 2017 (151)
55	BIOINF_KMB_FNS_UNIBA	ss3027865211	Nov 08, 2017 (151)
56	CSHL	ss3350841779	Nov 08, 2017 (151)
57	ILLUMINA	ss3627235981	Oct 12, 2018 (152)
58	ILLUMINA	ss3631158128	Oct 12, 2018 (152)
59	ILLUMINA	ss3641881987	Oct 12, 2018 (152)
60	URBANLAB	ss3650224425	Oct 12, 2018 (152)
61	EGCUT_WGS	ss3679575882	Jul 13, 2019 (153)
62	EVA_DECODE	ss3696826774	Jul 13, 2019 (153)
63	ACPOP	ss3740447193	Jul 13, 2019 (153)
64	EVA	ss3752413941	Jul 13, 2019 (153)
65	PACBIO	ss3787686342	Jul 13, 2019 (153)
66	PACBIO	ss3792721834	Jul 13, 2019 (153)
67	PACBIO	ss3797606085	Jul 13, 2019 (153)
68	KHV_HUMAN_GENOMES	ss3817746365	Jul 13, 2019 (153)
69	EVA	ss3833958141	Apr 27, 2020 (154)
70	EVA	ss3840573361	Apr 27, 2020 (154)
71	EVA	ss3846062649	Apr 27, 2020 (154)
72	SGDP_PRJ	ss3881665434	Apr 27, 2020 (154)
73	KRGDB	ss3930693417	Apr 27, 2020 (154)
74	KOGIC	ss3975073778	Apr 27, 2020 (154)
75	TOPMED	ss4973272215	Apr 26, 2021 (155)
76	TOMMO_GENOMICS	ss5213569843	Apr 26, 2021 (155)
77	1000G_HIGH_COVERAGE	ss5296486181	Oct 16, 2022 (156)
78	EVA	ss5315742623	Oct 16, 2022 (156)
79	EVA	ss5415745863	Oct 16, 2022 (156)
80	HUGCELL_USP	ss5490502944	Oct 16, 2022 (156)
81	EVA	ss5511269139	Oct 16, 2022 (156)
82	1000G_HIGH_COVERAGE	ss5596903777	Oct 16, 2022 (156)
83	SANFORD_IMAGENETICS	ss5656371136	Oct 16, 2022 (156)
84	TOMMO_GENOMICS	ss5766469171	Oct 16, 2022 (156)
85	YY_MCH	ss5814817872	Oct 16, 2022 (156)
86	EVA	ss5841210992	Oct 16, 2022 (156)
87	EVA	ss5851064714	Oct 16, 2022 (156)
88	EVA	ss5901643395	Oct 16, 2022 (156)
89	EVA	ss5947808812	Oct 16, 2022 (156)
90	1000Genomes	NC_000014.8 - 62933213	Oct 12, 2018 (152)
91	1000Genomes_30x	NC_000014.9 - 62466495	Oct 16, 2022 (156)
92	The Avon Longitudinal Study of Parents and Children	NC_000014.8 - 62933213	Oct 12, 2018 (152)
93	Genetic variation in the Estonian population	NC_000014.8 - 62933213	Oct 12, 2018 (152)
94	The Danish reference pan genome	NC_000014.8 - 62933213	Apr 27, 2020 (154)
95	gnomAD - Genomes Submission ignored due to conflicting rows: Row 453361184 (NC_000014.9:62466494:G:C 1/139868) Row 453361185 (NC_000014.9:62466494:G:T 112951/139816)	-	Apr 26, 2021 (155)
96	gnomAD - Genomes Submission ignored due to conflicting rows: Row 453361184 (NC_000014.9:62466494:G:C 1/139868) Row 453361185 (NC_000014.9:62466494:G:T 112951/139816)	-	Apr 26, 2021 (155)
97	Genome of the Netherlands Release 5	NC_000014.8 - 62933213	Apr 27, 2020 (154)
98	HapMap	NC_000014.9 - 62466495	Apr 27, 2020 (154)
99	KOREAN population from KRGDB	NC_000014.8 - 62933213	Apr 27, 2020 (154)
100	Korean Genome Project	NC_000014.9 - 62466495	Apr 27, 2020 (154)
101	Northern Sweden	NC_000014.8 - 62933213	Jul 13, 2019 (153)
102	Qatari	NC_000014.8 - 62933213	Apr 27, 2020 (154)
103	SGDP_PRJ	NC_000014.8 - 62933213	Apr 27, 2020 (154)
104	Siberian	NC_000014.8 - 62933213	Apr 27, 2020 (154)
105	8.3KJPN	NC_000014.8 - 62933213	Apr 26, 2021 (155)
106	14KJPN	NC_000014.9 - 62466495	Oct 16, 2022 (156)
107	TopMed	NC_000014.9 - 62466495	Apr 26, 2021 (155)
108	UK 10K study - Twins	NC_000014.8 - 62933213	Oct 12, 2018 (152)
109	A Vietnamese Genetic Variation Database	NC_000014.8 - 62933213	Jul 13, 2019 (153)
110	ALFA	NC_000014.9 - 62466495	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)
rs56772923	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss2928552656	NC_000014.8:62933212:G:C	NC_000014.9:62466494:G:C	(self)
7050853651	NC_000014.9:62466494:G:C	NC_000014.9:62466494:G:C	(self)
ss82882282, ss89972477, ss108396235, ss113418648, ss118526204, ss168189285, ss169721651, ss171231550, ss200166936, ss206834703, ss255044078, ss282032824, ss286855447, ss291615679, ss483316303, ss1695227478	NC_000014.7:62002965:G:T	NC_000014.9:62466494:G:T	(self)
64297861, 35719271, 25314130, 3634807, 15953769, 37870811, 13732058, 16641172, 33682414, 8971168, 71539150, 35719271, 7947404, ss226608436, ss236570795, ss242999239, ss482785253, ss534774372, ss564138431, ss659821911, ss780071110, ss781876828, ss835552854, ss991224655, ss1079715437, ss1351305906, ss1427447890, ss1577302254, ss1631894540, ss1674888573, ss1807956656, ss1934599242, ss1967980293, ss2028078647, ss2156454814, ss2633160501, ss2700881759, ss2928552656, ss3012322296, ss3350841779, ss3627235981, ss3631158128, ss3641881987, ss3679575882, ss3740447193, ss3752413941, ss3787686342, ss3792721834, ss3797606085, ss3833958141, ss3840573361, ss3881665434, ss3930693417, ss5213569843, ss5315742623, ss5415745863, ss5511269139, ss5656371136, ss5841210992, ss5947808812	NC_000014.8:62933212:G:T	NC_000014.9:62466494:G:T	(self)
84429712, 1160431, 31451779, 100306275, 188817874, 7050853651, ss2202604648, ss3027865211, ss3650224425, ss3696826774, ss3817746365, ss3846062649, ss3975073778, ss4973272215, ss5296486181, ss5490502944, ss5596903777, ss5766469171, ss5814817872, ss5851064714, ss5901643395	NC_000014.9:62466494:G:T	NC_000014.9:62466494:G:T	(self)
ss10743244, ss19983790, ss21192863	NT_026437.10:42853253:G:T	NC_000014.9:62466494:G:T	(self)
ss1360527, ss5480927, ss40511344, ss96864202, ss106393598, ss134012568, ss137017653, ss155890755	NT_026437.12:43933212:G:T	NC_000014.9:62466494:G: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 rs923484

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

rs923484