Name: rs66823261
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.

rs66823261

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr8:220692 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.241849 (64015/264690, TOPMED)
C=0.16965 (4790/28234, 14KJPN)
C=0.22610 (4271/18890, ALFA) (+ 17 more)
C=0.17345 (2907/16760, 8.3KJPN)
C=0.2509 (1607/6404, 1000G_30x)
C=0.2540 (1272/5008, 1000G)
C=0.2060 (923/4480, Estonian)
C=0.2097 (808/3854, ALSPAC)
C=0.2193 (813/3708, TWINSUK)
C=0.1839 (538/2926, KOREAN)
C=0.2003 (367/1832, Korea1K)
C=0.222 (222/998, GoNL)
C=0.205 (123/600, NorthernSweden)
T=0.398 (98/246, SGDP_PRJ)
C=0.333 (72/216, Qatari)
C=0.255 (54/212, Vietnamese)
C=0.16 (12/74, Ancient Sardinia)
C=0.35 (14/40, GENOME_DK)
T=0.5 (4/8, Siberian)
C=0.5 (4/8, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RPL23AP53 : 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	18890	T=0.77390	C=0.22610
European	Sub	14286	T=0.78937	C=0.21063
African	Sub	2946	T=0.7026	C=0.2974
African Others	Sub	114	T=0.632	C=0.368
African American	Sub	2832	T=0.7055	C=0.2945
Asian	Sub	112	T=0.786	C=0.214
East Asian	Sub	86	T=0.76	C=0.24
Other Asian	Sub	26	T=0.88	C=0.12
Latin American 1	Sub	146	T=0.781	C=0.219
Latin American 2	Sub	610	T=0.802	C=0.198
South Asian	Sub	98	T=0.77	C=0.23
Other	Sub	692	T=0.731	C=0.269

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=0.758151	C=0.241849
14KJPN	JAPANESE	Study-wide	28234	T=0.83035	C=0.16965
Allele Frequency Aggregator	Total	Global	18890	T=0.77390	C=0.22610
Allele Frequency Aggregator	European	Sub	14286	T=0.78937	C=0.21063
Allele Frequency Aggregator	African	Sub	2946	T=0.7026	C=0.2974
Allele Frequency Aggregator	Other	Sub	692	T=0.731	C=0.269
Allele Frequency Aggregator	Latin American 2	Sub	610	T=0.802	C=0.198
Allele Frequency Aggregator	Latin American 1	Sub	146	T=0.781	C=0.219
Allele Frequency Aggregator	Asian	Sub	112	T=0.786	C=0.214
Allele Frequency Aggregator	South Asian	Sub	98	T=0.77	C=0.23
8.3KJPN	JAPANESE	Study-wide	16760	T=0.82655	C=0.17345
1000Genomes_30x	Global	Study-wide	6404	T=0.7491	C=0.2509
1000Genomes_30x	African	Sub	1786	T=0.6646	C=0.3354
1000Genomes_30x	Europe	Sub	1266	T=0.7915	C=0.2085
1000Genomes_30x	South Asian	Sub	1202	T=0.7496	C=0.2504
1000Genomes_30x	East Asian	Sub	1170	T=0.7957	C=0.2043
1000Genomes_30x	American	Sub	980	T=0.792	C=0.208
1000Genomes	Global	Study-wide	5008	T=0.7460	C=0.2540
1000Genomes	African	Sub	1322	T=0.6483	C=0.3517
1000Genomes	East Asian	Sub	1008	T=0.7956	C=0.2044
1000Genomes	Europe	Sub	1006	T=0.7962	C=0.2038
1000Genomes	South Asian	Sub	978	T=0.748	C=0.252
1000Genomes	American	Sub	694	T=0.784	C=0.216
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.7940	C=0.2060
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.7903	C=0.2097
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.7807	C=0.2193
KOREAN population from KRGDB	KOREAN	Study-wide	2926	T=0.8161	C=0.1839
Korean Genome Project	KOREAN	Study-wide	1832	T=0.7997	C=0.2003
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.778	C=0.222
Northern Sweden	ACPOP	Study-wide	600	T=0.795	C=0.205
SGDP_PRJ	Global	Study-wide	246	T=0.398	C=0.602
Qatari	Global	Study-wide	216	T=0.667	C=0.333
A Vietnamese Genetic Variation Database	Global	Study-wide	212	T=0.745	C=0.255
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	74	T=0.84	C=0.16
The Danish reference pan genome	Danish	Study-wide	40	T=0.65	C=0.35
Siberian	Global	Study-wide	8	T=0.5	C=0.5

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 8	NC_000008.11:g.220692T>A
GRCh38.p14 chr 8	NC_000008.11:g.220692T>C
GRCh37.p13 chr 8	NC_000008.10:g.170692T>A
GRCh37.p13 chr 8	NC_000008.10:g.170692T>C

Gene: RPL23AP53, ribosomal protein L23a pseudogene 53 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RPL23AP53 transcript	NR_003572.2: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	T=	A	C
GRCh38.p14 chr 8	NC_000008.11:g.220692=	NC_000008.11:g.220692T>A	NC_000008.11:g.220692T>C
GRCh37.p13 chr 8	NC_000008.10:g.170692=	NC_000008.10:g.170692T>A	NC_000008.10:g.170692T>C

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#.

57 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	1000GENOMES	ss112697401	Feb 04, 2009 (130)
2	1000GENOMES	ss114756917	Feb 04, 2009 (130)
3	COMPLETE_GENOMICS	ss161998394	Jul 04, 2010 (132)
4	COMPLETE_GENOMICS	ss163647394	Jul 04, 2010 (132)
5	BUSHMAN	ss198590129	Jul 04, 2010 (132)
6	BCM-HGSC-SUB	ss206486763	Jul 04, 2010 (132)
7	1000GENOMES	ss223456036	Jul 14, 2010 (132)
8	1000GENOMES	ss234255507	Jul 15, 2010 (132)
9	1000GENOMES	ss241149607	Jul 15, 2010 (132)
10	TISHKOFF	ss560447232	Apr 25, 2013 (138)
11	SSMP	ss654868450	Apr 25, 2013 (138)
12	EVA-GONL	ss985033374	Aug 21, 2014 (142)
13	JMKIDD_LAB	ss1075153550	Aug 21, 2014 (142)
14	1000GENOMES	ss1328017857	Aug 21, 2014 (142)
15	DDI	ss1431355421	Apr 01, 2015 (144)
16	EVA_GENOME_DK	ss1582491931	Apr 01, 2015 (144)
17	EVA_UK10K_ALSPAC	ss1619671289	Apr 01, 2015 (144)
18	EVA_UK10K_TWINSUK	ss1662665322	Apr 01, 2015 (144)
19	HAMMER_LAB	ss1805329227	Sep 08, 2015 (146)
20	WEILL_CORNELL_DGM	ss1928305463	Feb 12, 2016 (147)
21	GENOMED	ss1970869477	Jul 19, 2016 (147)
22	JJLAB	ss2024840581	Sep 14, 2016 (149)
23	USC_VALOUEV	ss2153069487	Dec 20, 2016 (150)
24	HUMAN_LONGEVITY	ss2299580458	Dec 20, 2016 (150)
25	SYSTEMSBIOZJU	ss2626907900	Nov 08, 2017 (151)
26	GRF	ss2708807503	Nov 08, 2017 (151)
27	GNOMAD	ss2861624233	Nov 08, 2017 (151)
28	SWEGEN	ss3002418610	Nov 08, 2017 (151)
29	BIOINF_KMB_FNS_UNIBA	ss3026209451	Nov 08, 2017 (151)
30	CSHL	ss3347960084	Nov 08, 2017 (151)
31	EGCUT_WGS	ss3670139099	Jul 13, 2019 (153)
32	EVA_DECODE	ss3721135427	Jul 13, 2019 (153)
33	ACPOP	ss3735267442	Jul 13, 2019 (153)
34	EVA	ss3767432895	Jul 13, 2019 (153)
35	KHV_HUMAN_GENOMES	ss3810603379	Jul 13, 2019 (153)
36	EVA	ss3830933671	Apr 26, 2020 (154)
37	SGDP_PRJ	ss3868901121	Apr 26, 2020 (154)
38	KRGDB	ss3916313520	Apr 26, 2020 (154)
39	KOGIC	ss3963021549	Apr 26, 2020 (154)
40	EVA	ss3985334692	Apr 26, 2021 (155)
41	TOPMED	ss4771139739	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5186626443	Apr 26, 2021 (155)
43	EVA	ss5237433765	Apr 26, 2021 (155)
44	1000G_HIGH_COVERAGE	ss5275545381	Oct 13, 2022 (156)
45	EVA	ss5378216147	Oct 13, 2022 (156)
46	HUGCELL_USP	ss5472313002	Oct 13, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5565073439	Oct 13, 2022 (156)
48	SANFORD_IMAGENETICS	ss5624681679	Oct 13, 2022 (156)
49	SANFORD_IMAGENETICS	ss5644451074	Oct 13, 2022 (156)
50	TOMMO_GENOMICS	ss5727956928	Oct 13, 2022 (156)
51	YY_MCH	ss5809302432	Oct 13, 2022 (156)
52	EVA	ss5829911730	Oct 13, 2022 (156)
53	EVA	ss5847330677	Oct 13, 2022 (156)
54	EVA	ss5856189154	Oct 13, 2022 (156)
55	EVA	ss5887168390	Oct 13, 2022 (156)
56	EVA	ss5973644606	Oct 13, 2022 (156)
57	EVA	ss5979849301	Oct 13, 2022 (156)
58	1000Genomes	NC_000008.10 - 170692	Oct 12, 2018 (152)
59	1000Genomes_30x	NC_000008.11 - 220692	Oct 13, 2022 (156)
60	The Avon Longitudinal Study of Parents and Children	NC_000008.10 - 170692	Oct 12, 2018 (152)
61	Genetic variation in the Estonian population	NC_000008.10 - 170692	Oct 12, 2018 (152)
62	The Danish reference pan genome	NC_000008.10 - 170692	Apr 26, 2020 (154)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 283007075 (NC_000008.11:220691:T:A 1/139744) Row 283007076 (NC_000008.11:220691:T:C 33104/139668)	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 283007075 (NC_000008.11:220691:T:A 1/139744) Row 283007076 (NC_000008.11:220691:T:C 33104/139668)	-	Apr 26, 2021 (155)
65	Genome of the Netherlands Release 5	NC_000008.10 - 170692	Apr 26, 2020 (154)
66	KOREAN population from KRGDB	NC_000008.10 - 170692	Apr 26, 2020 (154)
67	Korean Genome Project	NC_000008.11 - 220692	Apr 26, 2020 (154)
68	Northern Sweden	NC_000008.10 - 170692	Jul 13, 2019 (153)
69	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000008.10 - 170692	Apr 26, 2021 (155)
70	Qatari	NC_000008.10 - 170692	Apr 26, 2020 (154)
71	SGDP_PRJ	NC_000008.10 - 170692	Apr 26, 2020 (154)
72	Siberian	NC_000008.10 - 170692	Apr 26, 2020 (154)
73	8.3KJPN	NC_000008.10 - 170692	Apr 26, 2021 (155)
74	14KJPN	NC_000008.11 - 220692	Oct 13, 2022 (156)
75	TopMed	NC_000008.11 - 220692	Apr 26, 2021 (155)
76	UK 10K study - Twins	NC_000008.10 - 170692	Oct 12, 2018 (152)
77	A Vietnamese Genetic Variation Database	NC_000008.10 - 170692	Jul 13, 2019 (153)
78	ALFA	NC_000008.11 - 220692	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)
rs66823262	Feb 26, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss2861624233	NC_000008.10:170691:T:A	NC_000008.11:220691:T:A	(self)
	NC_000008.11:220691:T:A	NC_000008.11:220691:T:A	(self)
ss112697401, ss114756917, ss161998394, ss163647394, ss198590129, ss206486763	NC_000008.9:160691:T:C	NC_000008.11:220691:T:C	(self)
40094074, 22303174, 15877347, 8656869, 9954893, 23490914, 8552307, 560619, 10347393, 20918101, 5585841, 44595750, 22303174, 4965078, ss223456036, ss234255507, ss241149607, ss560447232, ss654868450, ss985033374, ss1075153550, ss1328017857, ss1431355421, ss1582491931, ss1619671289, ss1662665322, ss1805329227, ss1928305463, ss1970869477, ss2024840581, ss2153069487, ss2626907900, ss2708807503, ss2861624233, ss3002418610, ss3347960084, ss3670139099, ss3735267442, ss3767432895, ss3830933671, ss3868901121, ss3916313520, ss3985334692, ss5186626443, ss5237433765, ss5378216147, ss5624681679, ss5644451074, ss5829911730, ss5847330677, ss5973644606, ss5979849301	NC_000008.10:170691:T:C	NC_000008.11:220691:T:C	(self)
52599374, 19399550, 61794032, 608517299, 10926403891, ss2299580458, ss3026209451, ss3721135427, ss3810603379, ss3963021549, ss4771139739, ss5275545381, ss5472313002, ss5565073439, ss5727956928, ss5809302432, ss5856189154, ss5887168390	NC_000008.11:220691:T:C	NC_000008.11:220691:T:C	(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 rs66823261

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

rs66823261