Name: rs113967228
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.

rs113967228

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:21123509 (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>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.077895 (10901/139944, GnomAD)
T=0.00018 (5/28258, 14KJPN)
T=0.04300 (744/17302, ALFA) (+ 12 more)
T=0.00012 (2/16760, 8.3KJPN)
T=0.0523 (335/6404, 1000G_30x)
T=0.0523 (262/5008, 1000G)
T=0.1003 (449/4478, Estonian)
T=0.0916 (353/3854, ALSPAC)
T=0.0833 (309/3708, TWINSUK)
T=0.145 (87/600, NorthernSweden)
T=0.079 (17/216, Qatari)
C=0.48 (25/52, SGDP_PRJ)
T=0.05 (2/40, GENOME_DK)
C=0.50 (7/14, Siberian)
T=0.50 (7/14, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ZNF714 : 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	17302	C=0.95700	A=0.00000, T=0.04300
European	Sub	13142	C=0.94765	A=0.00000, T=0.05235
African	Sub	2696	C=0.9852	A=0.0000, T=0.0148
African Others	Sub	108	C=0.954	A=0.000, T=0.046
African American	Sub	2588	C=0.9865	A=0.0000, T=0.0135
Asian	Sub	112	C=1.000	A=0.000, T=0.000
East Asian	Sub	86	C=1.00	A=0.00, T=0.00
Other Asian	Sub	26	C=1.00	A=0.00, T=0.00
Latin American 1	Sub	124	C=1.000	A=0.000, T=0.000
Latin American 2	Sub	546	C=1.000	A=0.000, T=0.000
South Asian	Sub	88	C=1.00	A=0.00, T=0.00
Other	Sub	594	C=0.973	A=0.000, T=0.027

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	139944	C=0.922105	T=0.077895
gnomAD - Genomes	European	Sub	75802	C=0.90124	T=0.09876
gnomAD - Genomes	African	Sub	41924	C=0.94490	T=0.05510
gnomAD - Genomes	American	Sub	13630	C=0.94710	T=0.05290
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	C=0.9322	T=0.0678
gnomAD - Genomes	East Asian	Sub	3128	C=0.9984	T=0.0016
gnomAD - Genomes	Other	Sub	2142	C=0.9281	T=0.0719
14KJPN	JAPANESE	Study-wide	28258	C=0.99982	T=0.00018
Allele Frequency Aggregator	Total	Global	17302	C=0.95700	A=0.00000, T=0.04300
Allele Frequency Aggregator	European	Sub	13142	C=0.94765	A=0.00000, T=0.05235
Allele Frequency Aggregator	African	Sub	2696	C=0.9852	A=0.0000, T=0.0148
Allele Frequency Aggregator	Other	Sub	594	C=0.973	A=0.000, T=0.027
Allele Frequency Aggregator	Latin American 2	Sub	546	C=1.000	A=0.000, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	124	C=1.000	A=0.000, T=0.000
Allele Frequency Aggregator	Asian	Sub	112	C=1.000	A=0.000, T=0.000
Allele Frequency Aggregator	South Asian	Sub	88	C=1.00	A=0.00, T=0.00
8.3KJPN	JAPANESE	Study-wide	16760	C=0.99988	T=0.00012
1000Genomes_30x	Global	Study-wide	6404	C=0.9477	T=0.0523
1000Genomes_30x	African	Sub	1786	C=0.9451	T=0.0549
1000Genomes_30x	Europe	Sub	1266	C=0.8870	T=0.1130
1000Genomes_30x	South Asian	Sub	1202	C=0.9559	T=0.0441
1000Genomes_30x	East Asian	Sub	1170	C=0.9991	T=0.0009
1000Genomes_30x	American	Sub	980	C=0.959	T=0.041
1000Genomes	Global	Study-wide	5008	C=0.9477	T=0.0523
1000Genomes	African	Sub	1322	C=0.9425	T=0.0575
1000Genomes	East Asian	Sub	1008	C=0.9990	T=0.0010
1000Genomes	Europe	Sub	1006	C=0.8867	T=0.1133
1000Genomes	South Asian	Sub	978	C=0.955	T=0.045
1000Genomes	American	Sub	694	C=0.961	T=0.039
Genetic variation in the Estonian population	Estonian	Study-wide	4478	C=0.8997	T=0.1003
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9084	T=0.0916
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9167	T=0.0833
Northern Sweden	ACPOP	Study-wide	600	C=0.855	T=0.145
Qatari	Global	Study-wide	216	C=0.921	T=0.079
SGDP_PRJ	Global	Study-wide	52	C=0.48	T=0.52
The Danish reference pan genome	Danish	Study-wide	40	C=0.95	T=0.05
Siberian	Global	Study-wide	14	C=0.50	T=0.50

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 19	NC_000019.10:g.21123509C>A
GRCh38.p14 chr 19	NC_000019.10:g.21123509C>T
GRCh37.p13 chr 19	NC_000019.9:g.21306312C>A
GRCh37.p13 chr 19	NC_000019.9:g.21306312C>T

Gene: ZNF714, zinc finger protein 714 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ZNF714 transcript variant 1	NM_182515.4:c.*5177=	N/A	3 Prime UTR Variant
ZNF714 transcript variant 2	NR_117086.2:n.	N/A	Intron Variant
ZNF714 transcript variant 3	NR_117087.2:n.	N/A	Intron Variant
ZNF714 transcript variant 4	NR_117088.2: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	C=	A	T
GRCh38.p14 chr 19	NC_000019.10:g.21123509=	NC_000019.10:g.21123509C>A	NC_000019.10:g.21123509C>T
GRCh37.p13 chr 19	NC_000019.9:g.21306312=	NC_000019.9:g.21306312C>A	NC_000019.9:g.21306312C>T
ZNF714 transcript variant 1	NM_182515.4:c.*5177=	NM_182515.4:c.*5177C>A	NM_182515.4:c.*5177C>T
ZNF714 transcript variant 1	NM_182515.3:c.*5177=	NM_182515.3:c.*5177C>A	NM_182515.3:c.*5177C>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#.

40 SubSNP, 16 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	COMPLETE_GENOMICS	ss167948110	Jul 04, 2010 (132)
2	GMI	ss287358663	Apr 25, 2013 (138)
3	1000GENOMES	ss340375797	May 09, 2011 (134)
4	TISHKOFF	ss565904628	Apr 25, 2013 (138)
5	SSMP	ss661762534	Apr 25, 2013 (138)
6	EVA-GONL	ss994172780	Aug 21, 2014 (142)
7	1000GENOMES	ss1362675258	Aug 21, 2014 (142)
8	DDI	ss1428361702	Apr 01, 2015 (144)
9	EVA_GENOME_DK	ss1578590113	Apr 01, 2015 (144)
10	EVA_UK10K_ALSPAC	ss1637719937	Apr 01, 2015 (144)
11	EVA_UK10K_TWINSUK	ss1680713970	Apr 01, 2015 (144)
12	EVA_DECODE	ss1698230803	Apr 01, 2015 (144)
13	WEILL_CORNELL_DGM	ss1937660167	Feb 12, 2016 (147)
14	JJLAB	ss2029604510	Sep 14, 2016 (149)
15	USC_VALOUEV	ss2158135092	Dec 20, 2016 (150)
16	HUMAN_LONGEVITY	ss2224930087	Dec 20, 2016 (150)
17	GNOMAD	ss2961416707	Nov 08, 2017 (151)
18	SWEGEN	ss3017246175	Nov 08, 2017 (151)
19	CSHL	ss3352238490	Nov 08, 2017 (151)
20	EGCUT_WGS	ss3684061002	Jul 13, 2019 (153)
21	EVA_DECODE	ss3702518133	Jul 13, 2019 (153)
22	ACPOP	ss3742930111	Jul 13, 2019 (153)
23	EVA	ss3755910070	Jul 13, 2019 (153)
24	KHV_HUMAN_GENOMES	ss3821164028	Jul 13, 2019 (153)
25	EVA	ss3835397385	Apr 27, 2020 (154)
26	SGDP_PRJ	ss3887946497	Apr 27, 2020 (154)
27	TOPMED	ss5070710791	Apr 26, 2021 (155)
28	TOPMED	ss5070710792	Apr 26, 2021 (155)
29	TOMMO_GENOMICS	ss5227158019	Apr 26, 2021 (155)
30	1000G_HIGH_COVERAGE	ss5306802070	Oct 16, 2022 (156)
31	EVA	ss5434070589	Oct 16, 2022 (156)
32	HUGCELL_USP	ss5499389505	Oct 16, 2022 (156)
33	EVA	ss5512060031	Oct 16, 2022 (156)
34	1000G_HIGH_COVERAGE	ss5612323821	Oct 16, 2022 (156)
35	SANFORD_IMAGENETICS	ss5662143953	Oct 16, 2022 (156)
36	TOMMO_GENOMICS	ss5785583477	Oct 16, 2022 (156)
37	YY_MCH	ss5817482704	Oct 16, 2022 (156)
38	EVA	ss5840375192	Oct 16, 2022 (156)
39	EVA	ss5927620641	Oct 16, 2022 (156)
40	EVA	ss5953560403	Oct 16, 2022 (156)
41	1000Genomes	NC_000019.9 - 21306312	Oct 12, 2018 (152)
42	1000Genomes_30x	NC_000019.10 - 21123509	Oct 16, 2022 (156)
43	The Avon Longitudinal Study of Parents and Children	NC_000019.9 - 21306312	Oct 12, 2018 (152)
44	Genetic variation in the Estonian population	NC_000019.9 - 21306312	Oct 12, 2018 (152)
45	The Danish reference pan genome	NC_000019.9 - 21306312	Apr 27, 2020 (154)
46	gnomAD - Genomes	NC_000019.10 - 21123509	Apr 26, 2021 (155)
47	Northern Sweden	NC_000019.9 - 21306312	Jul 13, 2019 (153)
48	Qatari	NC_000019.9 - 21306312	Apr 27, 2020 (154)
49	SGDP_PRJ	NC_000019.9 - 21306312	Apr 27, 2020 (154)
50	Siberian	NC_000019.9 - 21306312	Apr 27, 2020 (154)
51	8.3KJPN	NC_000019.9 - 21306312	Apr 26, 2021 (155)
52	14KJPN	NC_000019.10 - 21123509	Oct 16, 2022 (156)
53	TopMed Submission ignored due to conflicting rows: Row 286256455 (NC_000019.10:21123508:C:A 1/264690) Row 286256456 (NC_000019.10:21123508:C:T 17767/264690)	-	Apr 26, 2021 (155)
54	TopMed Submission ignored due to conflicting rows: Row 286256455 (NC_000019.10:21123508:C:A 1/264690) Row 286256456 (NC_000019.10:21123508:C:T 17767/264690)	-	Apr 26, 2021 (155)
55	UK 10K study - Twins	NC_000019.9 - 21306312	Oct 12, 2018 (152)
56	ALFA	NC_000019.10 - 21123509	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
6960375099, ss5070710791	NC_000019.10:21123508:C:A	NC_000019.10:21123508:C:A	(self)
ss167948110, ss287358663, ss1698230803	NC_000019.8:21098151:C:T	NC_000019.10:21123508:C:T	(self)
76065294, 42135214, 29799250, 4774443, 16214976, 19702089, 39963477, 10651446, 85127326, 42135214, ss340375797, ss565904628, ss661762534, ss994172780, ss1362675258, ss1428361702, ss1578590113, ss1637719937, ss1680713970, ss1937660167, ss2029604510, ss2158135092, ss2961416707, ss3017246175, ss3352238490, ss3684061002, ss3742930111, ss3755910070, ss3835397385, ss3887946497, ss5227158019, ss5434070589, ss5512060031, ss5662143953, ss5840375192, ss5953560403	NC_000019.9:21306311:C:T	NC_000019.10:21123508:C:T	(self)
99849756, 536480053, 119420581, 6960375099, ss2224930087, ss3702518133, ss3821164028, ss5070710792, ss5306802070, ss5499389505, ss5612323821, ss5785583477, ss5817482704, ss5927620641	NC_000019.10:21123508:C:T	NC_000019.10:21123508: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 rs113967228

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

rs113967228