Name: rs4455567
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.

rs4455567

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:46079391 (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>A / T>C / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.049938 (13218/264690, TOPMED)
T=0.01177 (332/28210, 14KJPN)
T=0.01110 (186/16760, 8.3KJPN) (+ 13 more)
T=0.0132 (94/7098, ALFA)
T=0.0503 (322/6404, 1000G_30x)
T=0.0445 (223/5008, 1000G)
T=0.0005 (2/3854, ALSPAC)
T=0.0003 (1/3708, TWINSUK)
T=0.0089 (26/2930, KOREAN)
T=0.0082 (15/1832, Korea1K)
T=0.000 (0/600, NorthernSweden)
T=0.024 (13/552, SGDP_PRJ)
T=0.028 (6/216, Qatari)
T=0.005 (1/214, Vietnamese)
T=0.00 (0/56, Siberian)
T=0.00 (0/40, GENOME_DK)

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	7098	T=0.0132	A=0.0000, C=0.9868, G=0.0000
European	Sub	6668	T=0.0003	A=0.0000, C=0.9997, G=0.0000
African	Sub	198	T=0.434	A=0.000, C=0.566, G=0.000
African Others	Sub	8	T=0.4	A=0.0, C=0.6, G=0.0
African American	Sub	190	T=0.437	A=0.000, C=0.563, G=0.000
Asian	Sub	4	T=0.0	A=0.0, C=1.0, G=0.0
East Asian	Sub	2	T=0.0	A=0.0, C=1.0, G=0.0
Other Asian	Sub	2	T=0.0	A=0.0, C=1.0, G=0.0
Latin American 1	Sub	0	T=0	A=0, C=0, G=0
Latin American 2	Sub	0	T=0	A=0, C=0, G=0
South Asian	Sub	4	T=0.0	A=0.0, C=1.0, G=0.0
Other	Sub	224	T=0.027	A=0.000, C=0.973, G=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	T=0.049938	C=0.950062
14KJPN	JAPANESE	Study-wide	28210	T=0.01177	C=0.98823
8.3KJPN	JAPANESE	Study-wide	16760	T=0.01110	C=0.98890
Allele Frequency Aggregator	Total	Global	7098	T=0.0132	A=0.0000, C=0.9868, G=0.0000
Allele Frequency Aggregator	European	Sub	6668	T=0.0003	A=0.0000, C=0.9997, G=0.0000
Allele Frequency Aggregator	Other	Sub	224	T=0.027	A=0.000, C=0.973, G=0.000
Allele Frequency Aggregator	African	Sub	198	T=0.434	A=0.000, C=0.566, G=0.000
Allele Frequency Aggregator	South Asian	Sub	4	T=0.0	A=0.0, C=1.0, G=0.0
Allele Frequency Aggregator	Asian	Sub	4	T=0.0	A=0.0, C=1.0, G=0.0
Allele Frequency Aggregator	Latin American 1	Sub	0	T=0	A=0, C=0, G=0
Allele Frequency Aggregator	Latin American 2	Sub	0	T=0	A=0, C=0, G=0
1000Genomes_30x	Global	Study-wide	6404	T=0.0503	C=0.9497
1000Genomes_30x	African	Sub	1786	T=0.1641	C=0.8359
1000Genomes_30x	Europe	Sub	1266	T=0.0000	C=1.0000
1000Genomes_30x	South Asian	Sub	1202	T=0.0033	C=0.9967
1000Genomes_30x	East Asian	Sub	1170	T=0.0103	C=0.9897
1000Genomes_30x	American	Sub	980	T=0.013	C=0.987
1000Genomes	Global	Study-wide	5008	T=0.0445	C=0.9555
1000Genomes	African	Sub	1322	T=0.1528	C=0.8472
1000Genomes	East Asian	Sub	1008	T=0.0089	C=0.9911
1000Genomes	Europe	Sub	1006	T=0.0000	C=1.0000
1000Genomes	South Asian	Sub	978	T=0.004	C=0.996
1000Genomes	American	Sub	694	T=0.012	C=0.988
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.0005	C=0.9995
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.0003	C=0.9997
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.0089	C=0.9911
Korean Genome Project	KOREAN	Study-wide	1832	T=0.0082	C=0.9918
Northern Sweden	ACPOP	Study-wide	600	T=0.000	C=1.000
SGDP_PRJ	Global	Study-wide	552	T=0.024	C=0.976
Qatari	Global	Study-wide	216	T=0.028	C=0.972
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.005	C=0.995
Siberian	Global	Study-wide	56	T=0.00	C=1.00
The Danish reference pan genome	Danish	Study-wide	40	T=0.00	C=1.00

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 5	NC_000005.10:g.46079391T>A
GRCh38.p14 chr 5	NC_000005.10:g.46079391T>C
GRCh38.p14 chr 5	NC_000005.10:g.46079391T>G
GRCh37.p13 chr 5	NC_000005.9:g.46079493T>A
GRCh37.p13 chr 5	NC_000005.9:g.46079493T>C
GRCh37.p13 chr 5	NC_000005.9:g.46079493T>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=	A	C	G
GRCh38.p14 chr 5	NC_000005.10:g.46079391=	NC_000005.10:g.46079391T>A	NC_000005.10:g.46079391T>C	NC_000005.10:g.46079391T>G
GRCh37.p13 chr 5	NC_000005.9:g.46079493=	NC_000005.9:g.46079493T>A	NC_000005.9:g.46079493T>C	NC_000005.9:g.46079493T>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#.

74 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss5980071	Feb 20, 2003 (111)
2	WI_SSAHASNP	ss6887605	Feb 20, 2003 (126)
3	SC_JCM	ss12576775	Aug 26, 2003 (126)
4	WI_SSAHASNP	ss12580828	Aug 26, 2003 (126)
5	WI_SSAHASNP	ss13488354	Dec 05, 2003 (126)
6	SC_JCM	ss13525163	Dec 05, 2003 (126)
7	SC_SNP	ss16281753	Feb 28, 2004 (126)
8	SC_SNP	ss18340020	Feb 27, 2004 (126)
9	SC_SNP	ss18561290	Feb 27, 2004 (126)
10	SSAHASNP	ss22336963	Apr 05, 2004 (126)
11	HGSV	ss78893245	Dec 07, 2007 (129)
12	HUMANGENOME_JCVI	ss98616070	Feb 04, 2009 (130)
13	BGI	ss105922386	Feb 04, 2009 (130)
14	1000GENOMES	ss109010939	Jan 23, 2009 (130)
15	ILLUMINA-UK	ss116596929	Dec 01, 2009 (131)
16	ENSEMBL	ss142659442	Dec 01, 2009 (131)
17	GMI	ss155375923	Dec 01, 2009 (131)
18	COMPLETE_GENOMICS	ss162225191	Jul 04, 2010 (132)
19	COMPLETE_GENOMICS	ss166494570	Jul 04, 2010 (132)
20	BUSHMAN	ss200199083	Jul 04, 2010 (132)
21	1000GENOMES	ss211626157	Jul 14, 2010 (132)
22	1000GENOMES	ss221659739	Jul 14, 2010 (132)
23	1000GENOMES	ss232930470	Jul 14, 2010 (132)
24	1000GENOMES	ss240107198	Jul 15, 2010 (132)
25	BL	ss253417525	May 09, 2011 (134)
26	GMI	ss278271363	May 04, 2012 (137)
27	GMI	ss285168072	Apr 25, 2013 (138)
28	PJP	ss293348885	May 09, 2011 (134)
29	TISHKOFF	ss558369244	Apr 25, 2013 (138)
30	SSMP	ss652229023	Apr 25, 2013 (138)
31	JMKIDD_LAB	ss1072599297	Aug 21, 2014 (142)
32	1000GENOMES	ss1314937126	Aug 21, 2014 (142)
33	DDI	ss1430328932	Apr 01, 2015 (144)
34	EVA_GENOME_DK	ss1581121265	Apr 01, 2015 (144)
35	EVA_UK10K_ALSPAC	ss1612807955	Apr 01, 2015 (144)
36	EVA_UK10K_TWINSUK	ss1655801988	Apr 01, 2015 (144)
37	HAMMER_LAB	ss1803455906	Sep 08, 2015 (146)
38	WEILL_CORNELL_DGM	ss1924781960	Feb 12, 2016 (147)
39	JJLAB	ss2022994054	Sep 14, 2016 (149)
40	USC_VALOUEV	ss2151146291	Dec 20, 2016 (150)
41	HUMAN_LONGEVITY	ss2273482681	Dec 20, 2016 (150)
42	SYSTEMSBIOZJU	ss2625994518	Nov 08, 2017 (151)
43	GRF	ss2706685097	Nov 08, 2017 (151)
44	GNOMAD	ss2824107841	Nov 08, 2017 (151)
45	SWEGEN	ss2996857138	Nov 08, 2017 (151)
46	BIOINF_KMB_FNS_UNIBA	ss3025281035	Nov 08, 2017 (151)
47	CSHL	ss3346366742	Nov 08, 2017 (151)
48	URBANLAB	ss3648047066	Oct 12, 2018 (152)
49	EVA_DECODE	ss3714605991	Jul 13, 2019 (153)
50	ACPOP	ss3732320096	Jul 13, 2019 (153)
51	EVA	ss3763382619	Jul 13, 2019 (153)
52	PACBIO	ss3785098594	Jul 13, 2019 (153)
53	PACBIO	ss3790506325	Jul 13, 2019 (153)
54	PACBIO	ss3795382798	Jul 13, 2019 (153)
55	KHV_HUMAN_GENOMES	ss3806556007	Jul 13, 2019 (153)
56	EVA	ss3829224489	Apr 26, 2020 (154)
57	EVA	ss3838082748	Apr 26, 2020 (154)
58	EVA	ss3843522388	Apr 26, 2020 (154)
59	SGDP_PRJ	ss3861766885	Apr 26, 2020 (154)
60	KRGDB	ss3908263988	Apr 26, 2020 (154)
61	KOGIC	ss3956563559	Apr 26, 2020 (154)
62	TOPMED	ss4658534942	Apr 26, 2021 (155)
63	TOMMO_GENOMICS	ss5171547429	Apr 26, 2021 (155)
64	1000G_HIGH_COVERAGE	ss5263796738	Oct 13, 2022 (156)
65	EVA	ss5357302339	Oct 13, 2022 (156)
66	HUGCELL_USP	ss5462032936	Oct 13, 2022 (156)
67	1000G_HIGH_COVERAGE	ss5547341463	Oct 13, 2022 (156)
68	SANFORD_IMAGENETICS	ss5637720837	Oct 13, 2022 (156)
69	TOMMO_GENOMICS	ss5707544147	Oct 13, 2022 (156)
70	YY_MCH	ss5806248131	Oct 13, 2022 (156)
71	EVA	ss5834874403	Oct 13, 2022 (156)
72	EVA	ss5854797002	Oct 13, 2022 (156)
73	EVA	ss5894024745	Oct 13, 2022 (156)
74	EVA	ss5966145403	Oct 13, 2022 (156)
75	1000Genomes	NC_000005.9 - 46079493	Oct 12, 2018 (152)
76	1000Genomes_30x	NC_000005.10 - 46079391	Oct 13, 2022 (156)
77	The Avon Longitudinal Study of Parents and Children	NC_000005.9 - 46079493	Oct 12, 2018 (152)
78	The Danish reference pan genome	NC_000005.9 - 46079493	Apr 26, 2020 (154)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 187444300 (NC_000005.10:46079390:T:A 1/137540) Row 187444301 (NC_000005.10:46079390:T:C 130863/137524)	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 187444300 (NC_000005.10:46079390:T:A 1/137540) Row 187444301 (NC_000005.10:46079390:T:C 130863/137524)	-	Apr 26, 2021 (155)
81	KOREAN population from KRGDB	NC_000005.9 - 46079493	Apr 26, 2020 (154)
82	Korean Genome Project	NC_000005.10 - 46079391	Apr 26, 2020 (154)
83	Northern Sweden	NC_000005.9 - 46079493	Jul 13, 2019 (153)
84	Qatari	NC_000005.9 - 46079493	Apr 26, 2020 (154)
85	SGDP_PRJ	NC_000005.9 - 46079493	Apr 26, 2020 (154)
86	Siberian	NC_000005.9 - 46079493	Apr 26, 2020 (154)
87	8.3KJPN	NC_000005.9 - 46079493	Apr 26, 2021 (155)
88	14KJPN	NC_000005.10 - 46079391	Oct 13, 2022 (156)
89	TopMed	NC_000005.10 - 46079391	Apr 26, 2021 (155)
90	UK 10K study - Twins	NC_000005.9 - 46079493	Oct 12, 2018 (152)
91	A Vietnamese Genetic Variation Database	NC_000005.9 - 46079493	Jul 13, 2019 (153)
92	ALFA	NC_000005.10 - 46079391	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)
rs4975879	Mar 11, 2006 (126)
rs8175374	Mar 11, 2006 (126)
rs9688128	Mar 11, 2006 (126)
rs9717109	Mar 11, 2006 (126)
rs10941730	Mar 11, 2006 (126)
rs11560182	Mar 11, 2006 (126)
rs13182978	Oct 08, 2004 (123)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
6358525270, ss2273482681	NC_000005.10:46079390:T:A	NC_000005.10:46079390:T:A	(self)
ss78893245, ss109010939, ss116596929, ss162225191, ss166494570, ss200199083, ss211626157, ss253417525, ss278271363, ss285168072, ss293348885	NC_000005.8:46115249:T:C	NC_000005.10:46079390:T:C	(self)
26531305, 14752148, 7286204, 15441382, 5604961, 6823890, 13783865, 3662645, 29516736, 14752148, 3278000, ss221659739, ss232930470, ss240107198, ss558369244, ss652229023, ss1072599297, ss1314937126, ss1430328932, ss1581121265, ss1612807955, ss1655801988, ss1803455906, ss1924781960, ss2022994054, ss2151146291, ss2625994518, ss2706685097, ss2824107841, ss2996857138, ss3346366742, ss3732320096, ss3763382619, ss3785098594, ss3790506325, ss3795382798, ss3829224489, ss3838082748, ss3861766885, ss3908263988, ss5171547429, ss5357302339, ss5637720837, ss5834874403, ss5966145403	NC_000005.9:46079492:T:C	NC_000005.10:46079390:T:C	(self)
34867398, 12941560, 41381251, 495912499, 6358525270, ss2273482681, ss3025281035, ss3648047066, ss3714605991, ss3806556007, ss3843522388, ss3956563559, ss4658534942, ss5263796738, ss5462032936, ss5547341463, ss5707544147, ss5806248131, ss5854797002, ss5894024745	NC_000005.10:46079390:T:C	NC_000005.10:46079390:T:C	(self)
ss12576775, ss12580828	NT_006576.13:28506238:T:C	NC_000005.10:46079390:T:C	(self)
ss13488354, ss13525163, ss16281753, ss18561290, ss22336963	NT_006576.14:28531598:T:C	NC_000005.10:46079390:T:C	(self)
ss5980071, ss6887605, ss18340020, ss98616070, ss105922386, ss142659442, ss155375923	NT_006576.16:46069492:T:C	NC_000005.10:46079390:T:C	(self)
6358525270	NC_000005.10:46079390:T:G	NC_000005.10:46079390: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 rs4455567

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

rs4455567