Name: rs114940958
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.

rs114940958

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:7965936 (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: C>A / C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.008595 (1205/140196, GnomAD)
T=0.00268 (50/18644, ALFA)
A=0.00012 (2/16760, 8.3KJPN) (+ 10 more)
T=0.0025 (16/6404, 1000G_30x)
T=0.0022 (11/5008, 1000G)
T=0.0105 (47/4480, Estonian)
T=0.0189 (73/3854, ALSPAC)
T=0.0146 (54/3708, TWINSUK)
T=0.014 (14/998, GoNL)
T=0.007 (4/600, NorthernSweden)
T=0.009 (2/216, Qatari)
C=0.5 (2/4, SGDP_PRJ)
T=0.5 (2/4, SGDP_PRJ)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PARK7 : 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	18644	C=0.99732	G=0.00000, T=0.00268
European	Sub	14066	C=0.99659	G=0.00000, T=0.00341
African	Sub	2938	C=1.0000	G=0.0000, T=0.0000
African Others	Sub	114	C=1.000	G=0.000, T=0.000
African American	Sub	2824	C=1.0000	G=0.0000, T=0.0000
Asian	Sub	112	C=1.000	G=0.000, T=0.000
East Asian	Sub	86	C=1.00	G=0.00, T=0.00
Other Asian	Sub	26	C=1.00	G=0.00, T=0.00
Latin American 1	Sub	146	C=1.000	G=0.000, T=0.000
Latin American 2	Sub	604	C=1.000	G=0.000, T=0.000
South Asian	Sub	98	C=1.00	G=0.00, T=0.00
Other	Sub	680	C=0.997	G=0.000, T=0.003

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 - Genomes	Global	Study-wide	140196	C=0.991405	T=0.008595
gnomAD - Genomes	European	Sub	75934	C=0.98634	T=0.01366
gnomAD - Genomes	African	Sub	42012	C=0.99743	T=0.00257
gnomAD - Genomes	American	Sub	13644	C=0.99685	T=0.00315
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=1.0000	T=0.0000
gnomAD - Genomes	East Asian	Sub	3134	C=1.0000	T=0.0000
gnomAD - Genomes	Other	Sub	2150	C=0.9921	T=0.0079
Allele Frequency Aggregator	Total	Global	18644	C=0.99732	G=0.00000, T=0.00268
Allele Frequency Aggregator	European	Sub	14066	C=0.99659	G=0.00000, T=0.00341
Allele Frequency Aggregator	African	Sub	2938	C=1.0000	G=0.0000, T=0.0000
Allele Frequency Aggregator	Other	Sub	680	C=0.997	G=0.000, T=0.003
Allele Frequency Aggregator	Latin American 2	Sub	604	C=1.000	G=0.000, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	C=1.000	G=0.000, T=0.000
Allele Frequency Aggregator	Asian	Sub	112	C=1.000	G=0.000, T=0.000
Allele Frequency Aggregator	South Asian	Sub	98	C=1.00	G=0.00, T=0.00
8.3KJPN	JAPANESE	Study-wide	16760	C=0.99988	A=0.00012
1000Genomes_30x	Global	Study-wide	6404	C=0.9975	T=0.0025
1000Genomes_30x	African	Sub	1786	C=0.9994	T=0.0006
1000Genomes_30x	Europe	Sub	1266	C=0.9937	T=0.0063
1000Genomes_30x	South Asian	Sub	1202	C=0.9967	T=0.0033
1000Genomes_30x	East Asian	Sub	1170	C=1.0000	T=0.0000
1000Genomes_30x	American	Sub	980	C=0.997	T=0.003
1000Genomes	Global	Study-wide	5008	C=0.9978	T=0.0022
1000Genomes	African	Sub	1322	C=0.9992	T=0.0008
1000Genomes	East Asian	Sub	1008	C=1.0000	T=0.0000
1000Genomes	Europe	Sub	1006	C=0.9940	T=0.0060
1000Genomes	South Asian	Sub	978	C=0.998	T=0.002
1000Genomes	American	Sub	694	C=0.997	T=0.003
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9895	T=0.0105
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9811	T=0.0189
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9854	T=0.0146
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.986	T=0.014
Northern Sweden	ACPOP	Study-wide	600	C=0.993	T=0.007
Qatari	Global	Study-wide	216	C=0.991	T=0.009
SGDP_PRJ	Global	Study-wide	4	C=0.5	T=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 1	NC_000001.11:g.7965936C>A
GRCh38.p14 chr 1	NC_000001.11:g.7965936C>G
GRCh38.p14 chr 1	NC_000001.11:g.7965936C>T
GRCh37.p13 chr 1	NC_000001.10:g.8025996C>A
GRCh37.p13 chr 1	NC_000001.10:g.8025996C>G
GRCh37.p13 chr 1	NC_000001.10:g.8025996C>T
PARK7 RefSeqGene	NG_008271.1:g.9283C>A
PARK7 RefSeqGene	NG_008271.1:g.9283C>G
PARK7 RefSeqGene	NG_008271.1:g.9283C>T

Gene: PARK7, Parkinsonism associated deglycase (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PARK7 transcript variant 2	NM_001123377.2:c.192+511C… NM_001123377.2:c.192+511C>A	N/A	Intron Variant
PARK7 transcript variant 1	NM_007262.5:c.192+511C>A	N/A	Intron Variant
PARK7 transcript variant X1	XM_005263424.4:c.192+511C… XM_005263424.4:c.192+511C>A	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	C=	A	G	T
GRCh38.p14 chr 1	NC_000001.11:g.7965936=	NC_000001.11:g.7965936C>A	NC_000001.11:g.7965936C>G	NC_000001.11:g.7965936C>T
GRCh37.p13 chr 1	NC_000001.10:g.8025996=	NC_000001.10:g.8025996C>A	NC_000001.10:g.8025996C>G	NC_000001.10:g.8025996C>T
PARK7 RefSeqGene	NG_008271.1:g.9283=	NG_008271.1:g.9283C>A	NG_008271.1:g.9283C>G	NG_008271.1:g.9283C>T
PARK7 transcript variant 2	NM_001123377.1:c.192+511=	NM_001123377.1:c.192+511C>A	NM_001123377.1:c.192+511C>G	NM_001123377.1:c.192+511C>T
PARK7 transcript variant 2	NM_001123377.2:c.192+511=	NM_001123377.2:c.192+511C>A	NM_001123377.2:c.192+511C>G	NM_001123377.2:c.192+511C>T
PARK7 transcript variant 1	NM_007262.4:c.192+511=	NM_007262.4:c.192+511C>A	NM_007262.4:c.192+511C>G	NM_007262.4:c.192+511C>T
PARK7 transcript variant 1	NM_007262.5:c.192+511=	NM_007262.5:c.192+511C>A	NM_007262.5:c.192+511C>G	NM_007262.5:c.192+511C>T
PARK7 transcript variant X1	XM_005263424.1:c.192+511=	XM_005263424.1:c.192+511C>A	XM_005263424.1:c.192+511C>G	XM_005263424.1:c.192+511C>T
PARK7 transcript variant X1	XM_005263424.4:c.192+511=	XM_005263424.4:c.192+511C>A	XM_005263424.4:c.192+511C>G	XM_005263424.4:c.192+511C>T
PARK7 transcript variant X2	XM_005263425.1:c.192+511=	XM_005263425.1:c.192+511C>A	XM_005263425.1:c.192+511C>G	XM_005263425.1:c.192+511C>T
PARK7 transcript variant X3	XM_005263426.1:c.192+511=	XM_005263426.1:c.192+511C>A	XM_005263426.1:c.192+511C>G	XM_005263426.1:c.192+511C>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#.

31 SubSNP, 16 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	1000GENOMES	ss230418722	Jul 14, 2010 (132)
2	EVA-GONL	ss974832223	Aug 21, 2014 (142)
3	JMKIDD_LAB	ss1067653477	Aug 21, 2014 (142)
4	1000GENOMES	ss1289588062	Aug 21, 2014 (142)
5	DDI	ss1425705361	Apr 01, 2015 (144)
6	EVA_DECODE	ss1584190300	Apr 01, 2015 (144)
7	EVA_UK10K_ALSPAC	ss1599499359	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1642493392	Apr 01, 2015 (144)
9	WEILL_CORNELL_DGM	ss1918030000	Feb 12, 2016 (147)
10	JJLAB	ss2019530649	Sep 14, 2016 (149)
11	HUMAN_LONGEVITY	ss2159848830	Dec 20, 2016 (150)
12	GNOMAD	ss2751344330	Nov 08, 2017 (151)
13	SWEGEN	ss2986257224	Nov 08, 2017 (151)
14	EGCUT_WGS	ss3654357263	Jul 12, 2019 (153)
15	EVA_DECODE	ss3686115472	Jul 12, 2019 (153)
16	ACPOP	ss3726770096	Jul 12, 2019 (153)
17	SGDP_PRJ	ss3848144122	Apr 25, 2020 (154)
18	TOPMED	ss4438408861	Apr 25, 2021 (155)
19	TOPMED	ss4438408862	Apr 25, 2021 (155)
20	TOMMO_GENOMICS	ss5142356867	Apr 25, 2021 (155)
21	1000G_HIGH_COVERAGE	ss5241088587	Oct 17, 2022 (156)
22	EVA	ss5316595271	Oct 17, 2022 (156)
23	HUGCELL_USP	ss5442301085	Oct 17, 2022 (156)
24	EVA	ss5505760957	Oct 17, 2022 (156)
25	1000G_HIGH_COVERAGE	ss5512809475	Oct 17, 2022 (156)
26	SANFORD_IMAGENETICS	ss5624877718	Oct 17, 2022 (156)
27	TOMMO_GENOMICS	ss5666619579	Oct 17, 2022 (156)
28	TOMMO_GENOMICS	ss5666619580	Oct 17, 2022 (156)
29	EVA	ss5831507732	Oct 17, 2022 (156)
30	EVA	ss5906948742	Oct 17, 2022 (156)
31	EVA	ss5936704239	Oct 17, 2022 (156)
32	1000Genomes	NC_000001.10 - 8025996	Oct 11, 2018 (152)
33	1000Genomes_30x	NC_000001.11 - 7965936	Oct 17, 2022 (156)
34	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 8025996	Oct 11, 2018 (152)
35	Genetic variation in the Estonian population	NC_000001.10 - 8025996	Oct 11, 2018 (152)
36	gnomAD - Genomes	NC_000001.11 - 7965936	Apr 25, 2021 (155)
37	Genome of the Netherlands Release 5	NC_000001.10 - 8025996	Apr 25, 2020 (154)
38	Northern Sweden	NC_000001.10 - 8025996	Jul 12, 2019 (153)
39	Qatari	NC_000001.10 - 8025996	Apr 25, 2020 (154)
40	SGDP_PRJ	NC_000001.10 - 8025996	Apr 25, 2020 (154)
41	8.3KJPN	NC_000001.10 - 8025996	Apr 25, 2021 (155)
42	14KJPN Submission ignored due to conflicting rows: Row 456683 (NC_000001.11:7965935:C:A 1/28258) Row 456684 (NC_000001.11:7965935:C:T 1/28258)	-	Oct 17, 2022 (156)
43	14KJPN Submission ignored due to conflicting rows: Row 456683 (NC_000001.11:7965935:C:A 1/28258) Row 456684 (NC_000001.11:7965935:C:T 1/28258)	-	Oct 17, 2022 (156)
44	TopMed Submission ignored due to conflicting rows: Row 2015196 (NC_000001.11:7965935:C:G 6/264690) Row 2015197 (NC_000001.11:7965935:C:T 2002/264690)	-	Apr 25, 2021 (155)
45	TopMed Submission ignored due to conflicting rows: Row 2015196 (NC_000001.11:7965935:C:G 6/264690) Row 2015197 (NC_000001.11:7965935:C:T 2002/264690)	-	Apr 25, 2021 (155)
46	UK 10K study - Twins	NC_000001.10 - 8025996	Oct 11, 2018 (152)
47	ALFA	NC_000001.11 - 7965936	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
326174, ss5142356867	NC_000001.10:8025995:C:A	NC_000001.11:7965935:C:A	(self)
ss5666619579	NC_000001.11:7965935:C:A	NC_000001.11:7965935:C:A
5098405329, ss4438408861	NC_000001.11:7965935:C:G	NC_000001.11:7965935:C:G	(self)
ss1584190300	NC_000001.9:7948582:C:T	NC_000001.11:7965935:C:T	(self)
260512, 132303, 95511, 57457, 54961, 71930, 161102, 132303, ss230418722, ss974832223, ss1067653477, ss1289588062, ss1425705361, ss1599499359, ss1642493392, ss1918030000, ss2019530649, ss2751344330, ss2986257224, ss3654357263, ss3726770096, ss3848144122, ss5316595271, ss5505760957, ss5624877718, ss5831507732, ss5936704239	NC_000001.10:8025995:C:T	NC_000001.11:7965935:C:T	(self)
335410, 1793609, 5098405329, ss2159848830, ss3686115472, ss4438408862, ss5241088587, ss5442301085, ss5512809475, ss5666619580, ss5906948742	NC_000001.11:7965935:C:T	NC_000001.11:7965935:C: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 rs114940958

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
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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

rs114940958