Name: rs114881830
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.

rs114881830

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:3633432 (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>A / G>C
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.000103 (25/243110, GnomAD_exome)
A=0.000087 (10/114686, ExAC)
A=0.00003 (1/35426, ALFA) (+ 3 more)
A=0.00023 (3/12980, GO-ESP)
A=0.0002 (1/6404, 1000G_30x)
A=0.0002 (1/5008, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: WRAP73 : Synonymous 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	51782	G=0.99996	A=0.00004, C=0.00000
European	Sub	36674	G=0.99997	A=0.00003, C=0.00000
African	Sub	7750	G=0.9999	A=0.0001, C=0.0000
African Others	Sub	298	G=1.000	A=0.000, C=0.000
African American	Sub	7452	G=0.9999	A=0.0001, C=0.0000
Asian	Sub	112	G=1.000	A=0.000, C=0.000
East Asian	Sub	86	G=1.00	A=0.00, C=0.00
Other Asian	Sub	26	G=1.00	A=0.00, C=0.00
Latin American 1	Sub	500	G=1.000	A=0.000, C=0.000
Latin American 2	Sub	628	G=1.000	A=0.000, C=0.000
South Asian	Sub	98	G=1.00	A=0.00, C=0.00
Other	Sub	6020	G=1.0000	A=0.0000, C=0.0000

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
gnomAD - Exomes	Global	Study-wide	243110	G=0.999897	A=0.000103
gnomAD - Exomes	European	Sub	129202	G=0.999985	A=0.000015
gnomAD - Exomes	Asian	Sub	48746	G=0.99977	A=0.00023
gnomAD - Exomes	American	Sub	34364	G=0.99988	A=0.00012
gnomAD - Exomes	African	Sub	14936	G=0.99946	A=0.00054
gnomAD - Exomes	Ashkenazi Jewish	Sub	9856	G=1.0000	A=0.0000
gnomAD - Exomes	Other	Sub	6006	G=1.0000	A=0.0000
ExAC	Global	Study-wide	114686	G=0.999913	A=0.000087
ExAC	Europe	Sub	68418	G=1.00000	A=0.00000
ExAC	Asian	Sub	24988	G=0.99988	A=0.00012
ExAC	American	Sub	11452	G=1.00000	A=0.00000
ExAC	African	Sub	8956	G=0.9992	A=0.0008
ExAC	Other	Sub	872	G=1.000	A=0.000
Allele Frequency Aggregator	Total	Global	35426	G=0.99997	A=0.00003, C=0.00000
Allele Frequency Aggregator	European	Sub	26588	G=0.99996	A=0.00004, C=0.00000
Allele Frequency Aggregator	Other	Sub	4586	G=1.0000	A=0.0000, C=0.0000
Allele Frequency Aggregator	African	Sub	2914	G=1.0000	A=0.0000, C=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	628	G=1.000	A=0.000, C=0.000
Allele Frequency Aggregator	Latin American 1	Sub	500	G=1.000	A=0.000, C=0.000
Allele Frequency Aggregator	Asian	Sub	112	G=1.000	A=0.000, C=0.000
Allele Frequency Aggregator	South Asian	Sub	98	G=1.00	A=0.00, C=0.00
GO Exome Sequencing Project	Global	Study-wide	12980	G=0.99977	A=0.00023
GO Exome Sequencing Project	European American	Sub	8586	G=1.0000	A=0.0000
GO Exome Sequencing Project	African American	Sub	4394	G=0.9993	A=0.0007
1000Genomes_30x	Global	Study-wide	6404	G=0.9998	A=0.0002
1000Genomes_30x	African	Sub	1786	G=1.0000	A=0.0000
1000Genomes_30x	Europe	Sub	1266	G=1.0000	A=0.0000
1000Genomes_30x	South Asian	Sub	1202	G=1.0000	A=0.0000
1000Genomes_30x	East Asian	Sub	1170	G=0.9991	A=0.0009
1000Genomes_30x	American	Sub	980	G=1.000	A=0.000
1000Genomes	Global	Study-wide	5008	G=0.9998	A=0.0002
1000Genomes	African	Sub	1322	G=1.0000	A=0.0000
1000Genomes	East Asian	Sub	1008	G=0.9990	A=0.0010
1000Genomes	Europe	Sub	1006	G=1.0000	A=0.0000
1000Genomes	South Asian	Sub	978	G=1.000	A=0.000
1000Genomes	American	Sub	694	G=1.000	A=0.000

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 1	NC_000001.11:g.3633432G>A
GRCh38.p14 chr 1	NC_000001.11:g.3633432G>C
GRCh37.p13 chr 1	NC_000001.10:g.3549996G>A
GRCh37.p13 chr 1	NC_000001.10:g.3549996G>C
WRAP73 RefSeqGene	NG_033937.1:g.21676C>T
WRAP73 RefSeqGene	NG_033937.1:g.21676C>G

Gene: WRAP73, WD repeat containing, antisense to TP73 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
WRAP73 transcript	NM_017818.4:c.888C>T	A [GCC] > A [GCT]	Coding Sequence Variant
WD repeat-containing protein WRAP73	NP_060288.3:p.Ala296=	A (Ala) > A (Ala)	Synonymous Variant
WRAP73 transcript	NM_017818.4:c.888C>G	A [GCC] > A [GCG]	Coding Sequence Variant
WD repeat-containing protein WRAP73	NP_060288.3:p.Ala296=	A (Ala) > A (Ala)	Synonymous Variant
WRAP73 transcript variant X1	XM_017001387.3:c.888C>T	A [GCC] > A [GCT]	Coding Sequence Variant
WD repeat-containing protein WRAP73 isoform X1	XP_016856876.1:p.Ala296=	A (Ala) > A (Ala)	Synonymous Variant
WRAP73 transcript variant X1	XM_017001387.3:c.888C>G	A [GCC] > A [GCG]	Coding Sequence Variant
WD repeat-containing protein WRAP73 isoform X1	XP_016856876.1:p.Ala296=	A (Ala) > A (Ala)	Synonymous Variant
WRAP73 transcript variant X2	XM_005244754.3:c.753C>T	A [GCC] > A [GCT]	Coding Sequence Variant
WD repeat-containing protein WRAP73 isoform X2	XP_005244811.1:p.Ala251=	A (Ala) > A (Ala)	Synonymous Variant
WRAP73 transcript variant X2	XM_005244754.3:c.753C>G	A [GCC] > A [GCG]	Coding Sequence Variant
WD repeat-containing protein WRAP73 isoform X2	XP_005244811.1:p.Ala251=	A (Ala) > A (Ala)	Synonymous Variant
WRAP73 transcript variant X3	XM_047421661.1:c.753C>T	A [GCC] > A [GCT]	Coding Sequence Variant
WD repeat-containing protein WRAP73 isoform X3	XP_047277617.1:p.Ala251=	A (Ala) > A (Ala)	Synonymous Variant
WRAP73 transcript variant X3	XM_047421661.1:c.753C>G	A [GCC] > A [GCG]	Coding Sequence Variant
WD repeat-containing protein WRAP73 isoform X3	XP_047277617.1:p.Ala251=	A (Ala) > A (Ala)	Synonymous Variant
WRAP73 transcript variant X4	XM_047421663.1:c.888C>T	A [GCC] > A [GCT]	Coding Sequence Variant
WD repeat-containing protein WRAP73 isoform X4	XP_047277619.1:p.Ala296=	A (Ala) > A (Ala)	Synonymous Variant
WRAP73 transcript variant X4	XM_047421663.1:c.888C>G	A [GCC] > A [GCG]	Coding Sequence Variant
WD repeat-containing protein WRAP73 isoform X4	XP_047277619.1:p.Ala296=	A (Ala) > A (Ala)	Synonymous 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=	A	C
GRCh38.p14 chr 1	NC_000001.11:g.3633432=	NC_000001.11:g.3633432G>A	NC_000001.11:g.3633432G>C
GRCh37.p13 chr 1	NC_000001.10:g.3549996=	NC_000001.10:g.3549996G>A	NC_000001.10:g.3549996G>C
WRAP73 RefSeqGene	NG_033937.1:g.21676=	NG_033937.1:g.21676C>T	NG_033937.1:g.21676C>G
WRAP73 transcript	NM_017818.4:c.888=	NM_017818.4:c.888C>T	NM_017818.4:c.888C>G
WRAP73 transcript	NM_017818.3:c.888=	NM_017818.3:c.888C>T	NM_017818.3:c.888C>G
WRAP73 transcript variant X1	XM_017001387.3:c.888=	XM_017001387.3:c.888C>T	XM_017001387.3:c.888C>G
WRAP73 transcript variant X1	XM_017001387.2:c.888=	XM_017001387.2:c.888C>T	XM_017001387.2:c.888C>G
WRAP73 transcript variant X1	XM_017001387.1:c.888=	XM_017001387.1:c.888C>T	XM_017001387.1:c.888C>G
WRAP73 transcript variant X2	XM_005244754.3:c.753=	XM_005244754.3:c.753C>T	XM_005244754.3:c.753C>G
WRAP73 transcript variant X2	XM_005244754.2:c.753=	XM_005244754.2:c.753C>T	XM_005244754.2:c.753C>G
WRAP73 transcript variant X2	XM_005244754.1:c.753=	XM_005244754.1:c.753C>T	XM_005244754.1:c.753C>G
WRAP73 transcript variant X4	XM_047421663.1:c.888=	XM_047421663.1:c.888C>T	XM_047421663.1:c.888C>G
WRAP73 transcript variant X3	XM_047421661.1:c.753=	XM_047421661.1:c.753C>T	XM_047421661.1:c.753C>G
WD repeat-containing protein WRAP73	NP_060288.3:p.Ala296=	NP_060288.3:p.Ala296=	NP_060288.3:p.Ala296=
WD repeat-containing protein WRAP73 isoform X1	XP_016856876.1:p.Ala296=	XP_016856876.1:p.Ala296=	XP_016856876.1:p.Ala296=
WD repeat-containing protein WRAP73 isoform X2	XP_005244811.1:p.Ala251=	XP_005244811.1:p.Ala251=	XP_005244811.1:p.Ala251=
WD repeat-containing protein WRAP73 isoform X4	XP_047277619.1:p.Ala296=	XP_047277619.1:p.Ala296=	XP_047277619.1:p.Ala296=
WD repeat-containing protein WRAP73 isoform X3	XP_047277617.1:p.Ala251=	XP_047277617.1:p.Ala251=	XP_047277617.1:p.Ala251=

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#.

21 SubSNP, 10 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	1000GENOMES	ss217390834	Jul 14, 2010 (132)
2	1000GENOMES	ss217392068	Jul 14, 2010 (132)
3	NHLBI-ESP	ss341927364	May 09, 2011 (134)
4	1000GENOMES	ss488648893	May 04, 2012 (137)
5	SSMP	ss647535181	Apr 25, 2013 (138)
6	1000GENOMES	ss1289445024	Aug 21, 2014 (142)
7	EVA_EXAC	ss1685260282	Apr 01, 2015 (144)
8	HUMAN_LONGEVITY	ss2159561153	Dec 20, 2016 (150)
9	GNOMAD	ss2731054625	Nov 08, 2017 (151)
10	GNOMAD	ss2746194414	Nov 08, 2017 (151)
11	GNOMAD	ss2750954645	Nov 08, 2017 (151)
12	EVA_DECODE	ss3686044025	Jul 12, 2019 (153)
13	EVA	ss3745753118	Jul 12, 2019 (153)
14	EVA	ss3823550254	Apr 25, 2020 (154)
15	TOPMED	ss4437254508	Apr 25, 2021 (155)
16	TOPMED	ss4437254509	Apr 25, 2021 (155)
17	EVA	ss5236863344	Apr 25, 2021 (155)
18	EVA	ss5316363136	Oct 12, 2022 (156)
19	1000G_HIGH_COVERAGE	ss5512625681	Oct 12, 2022 (156)
20	EVA	ss5906804292	Oct 12, 2022 (156)
21	EVA	ss5936630077	Oct 12, 2022 (156)
22	1000Genomes	NC_000001.10 - 3549996	Oct 11, 2018 (152)
23	1000Genomes_30x	NC_000001.11 - 3633432	Oct 12, 2022 (156)
24	ExAC	NC_000001.10 - 3549996	Oct 11, 2018 (152)
25	gnomAD - Genomes Submission ignored due to conflicting rows: Row 821031 (NC_000001.11:3633431:G:A 33/140234) Row 821032 (NC_000001.11:3633431:G:C 1/140234)	-	Apr 25, 2021 (155)
26	gnomAD - Genomes Submission ignored due to conflicting rows: Row 821031 (NC_000001.11:3633431:G:A 33/140234) Row 821032 (NC_000001.11:3633431:G:C 1/140234)	-	Apr 25, 2021 (155)
27	gnomAD - Exomes	NC_000001.10 - 3549996	Jul 12, 2019 (153)
28	GO Exome Sequencing Project	NC_000001.10 - 3549996	Oct 11, 2018 (152)
29	TopMed Submission ignored due to conflicting rows: Row 860843 (NC_000001.11:3633431:G:A 44/264690) Row 860844 (NC_000001.11:3633431:G:C 1/264690)	-	Apr 25, 2021 (155)
30	TopMed Submission ignored due to conflicting rows: Row 860843 (NC_000001.11:3633431:G:A 44/264690) Row 860844 (NC_000001.11:3633431:G:C 1/264690)	-	Apr 25, 2021 (155)
31	ALFA	NC_000001.11 - 3633432	Apr 25, 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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss217390834, ss217392068	NC_000001.9:3539855:G:A	NC_000001.11:3633431:G:A	(self)
112851, 4436505, 69538, 8988, ss341927364, ss488648893, ss647535181, ss1289445024, ss1685260282, ss2731054625, ss2746194414, ss2750954645, ss3745753118, ss3823550254, ss5316363136, ss5936630077	NC_000001.10:3549995:G:A	NC_000001.11:3633431:G:A	(self)
151616, 14911379288, ss2159561153, ss3686044025, ss4437254508, ss5236863344, ss5512625681, ss5906804292	NC_000001.11:3633431:G:A	NC_000001.11:3633431:G:A	(self)
14911379288, ss4437254509	NC_000001.11:3633431:G:C	NC_000001.11:3633431:G: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 rs114881830

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

rs114881830