Name: rs114394864
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.

rs114394864

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:18518603 (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=0.036424 (9641/264690, TOPMED)
T=0.036085 (5041/139698, GnomAD)
T=0.02351 (441/18754, ALFA) (+ 10 more)
T=0.0295 (189/6404, 1000G_30x)
T=0.0282 (141/5008, 1000G)
T=0.0132 (59/4480, Estonian)
T=0.0130 (50/3854, ALSPAC)
T=0.0148 (55/3708, TWINSUK)
T=0.018 (18/998, GoNL)
T=0.012 (7/600, NorthernSweden)
T=0.032 (7/216, Qatari)
C=0.50 (6/12, SGDP_PRJ)
T=0.50 (6/12, SGDP_PRJ)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ELL : 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	18754	C=0.97649	A=0.00000, T=0.02351
European	Sub	14252	C=0.98562	A=0.00000, T=0.01438
African	Sub	2846	C=0.9301	A=0.0000, T=0.0699
African Others	Sub	108	C=0.898	A=0.000, T=0.102
African American	Sub	2738	C=0.9313	A=0.0000, T=0.0687
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	146	C=0.938	A=0.000, T=0.062
Latin American 2	Sub	610	C=0.985	A=0.000, T=0.015
South Asian	Sub	98	C=1.00	A=0.00, T=0.00
Other	Sub	690	C=0.972	A=0.000, T=0.028

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	C=0.963576	T=0.036424
gnomAD - Genomes	Global	Study-wide	139698	C=0.963915	T=0.036085
gnomAD - Genomes	European	Sub	75718	C=0.98623	T=0.01377
gnomAD - Genomes	African	Sub	41820	C=0.91798	T=0.08202
gnomAD - Genomes	American	Sub	13588	C=0.97984	T=0.02016
gnomAD - Genomes	Ashkenazi Jewish	Sub	3310	C=0.9326	T=0.0674
gnomAD - Genomes	East Asian	Sub	3128	C=1.0000	T=0.0000
gnomAD - Genomes	Other	Sub	2134	C=0.9667	T=0.0333
Allele Frequency Aggregator	Total	Global	18754	C=0.97649	A=0.00000, T=0.02351
Allele Frequency Aggregator	European	Sub	14252	C=0.98562	A=0.00000, T=0.01438
Allele Frequency Aggregator	African	Sub	2846	C=0.9301	A=0.0000, T=0.0699
Allele Frequency Aggregator	Other	Sub	690	C=0.972	A=0.000, T=0.028
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.985	A=0.000, T=0.015
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.938	A=0.000, T=0.062
Allele Frequency Aggregator	Asian	Sub	112	C=1.000	A=0.000, T=0.000
Allele Frequency Aggregator	South Asian	Sub	98	C=1.00	A=0.00, T=0.00
1000Genomes_30x	Global	Study-wide	6404	C=0.9705	T=0.0295
1000Genomes_30x	African	Sub	1786	C=0.9110	T=0.0890
1000Genomes_30x	Europe	Sub	1266	C=0.9818	T=0.0182
1000Genomes_30x	South Asian	Sub	1202	C=1.0000	T=0.0000
1000Genomes_30x	East Asian	Sub	1170	C=1.0000	T=0.0000
1000Genomes_30x	American	Sub	980	C=0.993	T=0.007
1000Genomes	Global	Study-wide	5008	C=0.9718	T=0.0282
1000Genomes	African	Sub	1322	C=0.9130	T=0.0870
1000Genomes	East Asian	Sub	1008	C=1.0000	T=0.0000
1000Genomes	Europe	Sub	1006	C=0.9791	T=0.0209
1000Genomes	South Asian	Sub	978	C=1.000	T=0.000
1000Genomes	American	Sub	694	C=0.993	T=0.007
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9868	T=0.0132
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9870	T=0.0130
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9852	T=0.0148
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.982	T=0.018
Northern Sweden	ACPOP	Study-wide	600	C=0.988	T=0.012
Qatari	Global	Study-wide	216	C=0.968	T=0.032
SGDP_PRJ	Global	Study-wide	12	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.18518603C>A
GRCh38.p14 chr 19	NC_000019.10:g.18518603C>T
GRCh37.p13 chr 19	NC_000019.9:g.18629413C>A
GRCh37.p13 chr 19	NC_000019.9:g.18629413C>T

Gene: ELL, elongation factor for RNA polymerase II (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ELL transcript	NM_006532.4:c.135+3318G>T	N/A	Intron Variant
ELL transcript variant X1	XM_017027335.2:c.-385+331… XM_017027335.2:c.-385+3318G>T	N/A	Intron Variant
ELL transcript variant X3	XM_017027336.2:c.	N/A	Genic Upstream Transcript Variant
ELL transcript variant X4	XM_017027337.3:c.	N/A	Genic Upstream Transcript Variant
ELL transcript variant X2	XM_047439479.1:c.	N/A	Genic Upstream Transcript 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.18518603=	NC_000019.10:g.18518603C>A	NC_000019.10:g.18518603C>T
GRCh37.p13 chr 19	NC_000019.9:g.18629413=	NC_000019.9:g.18629413C>A	NC_000019.9:g.18629413C>T
ELL transcript	NM_006532.3:c.135+3318=	NM_006532.3:c.135+3318G>T	NM_006532.3:c.135+3318G>A
ELL transcript	NM_006532.4:c.135+3318=	NM_006532.4:c.135+3318G>T	NM_006532.4:c.135+3318G>A
ELL transcript variant X1	XM_017027335.2:c.-385+3318=	XM_017027335.2:c.-385+3318G>T	XM_017027335.2:c.-385+3318G>A

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#.

30 SubSNP, 12 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	1000GENOMES	ss228068064	Jul 14, 2010 (132)
2	TISHKOFF	ss565891981	Apr 25, 2013 (138)
3	EVA-GONL	ss994150488	Aug 21, 2014 (142)
4	JMKIDD_LAB	ss1081798868	Aug 21, 2014 (142)
5	1000GENOMES	ss1362596032	Aug 21, 2014 (142)
6	EVA_UK10K_ALSPAC	ss1637680290	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1680674323	Apr 01, 2015 (144)
8	EVA_DECODE	ss1698210010	Apr 01, 2015 (144)
9	WEILL_CORNELL_DGM	ss1937637827	Feb 12, 2016 (147)
10	JJLAB	ss2029592431	Sep 14, 2016 (149)
11	HUMAN_LONGEVITY	ss2224778227	Dec 20, 2016 (150)
12	GNOMAD	ss2961182127	Nov 08, 2017 (151)
13	AFFY	ss2985768959	Nov 08, 2017 (151)
14	SWEGEN	ss3017208772	Nov 08, 2017 (151)
15	CSHL	ss3352228782	Nov 08, 2017 (151)
16	EGCUT_WGS	ss3684029166	Jul 13, 2019 (153)
17	EVA_DECODE	ss3702477065	Jul 13, 2019 (153)
18	ACPOP	ss3742910971	Jul 13, 2019 (153)
19	KHV_HUMAN_GENOMES	ss3821139460	Jul 13, 2019 (153)
20	EVA	ss3835386226	Apr 27, 2020 (154)
21	SGDP_PRJ	ss3887902004	Apr 27, 2020 (154)
22	TOPMED	ss5070026838	Apr 26, 2021 (155)
23	1000G_HIGH_COVERAGE	ss5306728195	Oct 16, 2022 (156)
24	EVA	ss5433954577	Oct 16, 2022 (156)
25	HUGCELL_USP	ss5499325003	Oct 16, 2022 (156)
26	1000G_HIGH_COVERAGE	ss5612217435	Oct 16, 2022 (156)
27	SANFORD_IMAGENETICS	ss5662102938	Oct 16, 2022 (156)
28	EVA	ss5840345421	Oct 16, 2022 (156)
29	EVA	ss5927541926	Oct 16, 2022 (156)
30	EVA	ss5953519851	Oct 16, 2022 (156)
31	1000Genomes	NC_000019.9 - 18629413	Oct 12, 2018 (152)
32	1000Genomes_30x	NC_000019.10 - 18518603	Oct 16, 2022 (156)
33	The Avon Longitudinal Study of Parents and Children	NC_000019.9 - 18629413	Oct 12, 2018 (152)
34	Genetic variation in the Estonian population	NC_000019.9 - 18629413	Oct 12, 2018 (152)
35	gnomAD - Genomes	NC_000019.10 - 18518603	Apr 26, 2021 (155)
36	Genome of the Netherlands Release 5	NC_000019.9 - 18629413	Apr 27, 2020 (154)
37	Northern Sweden	NC_000019.9 - 18629413	Jul 13, 2019 (153)
38	Qatari	NC_000019.9 - 18629413	Apr 27, 2020 (154)
39	SGDP_PRJ	NC_000019.9 - 18629413	Apr 27, 2020 (154)
40	TopMed	NC_000019.10 - 18518603	Apr 26, 2021 (155)
41	UK 10K study - Twins	NC_000019.9 - 18629413	Oct 12, 2018 (152)
42	ALFA	NC_000019.10 - 18518603	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
11934000804	NC_000019.10:18518602:C:A	NC_000019.10:18518602:C:A	(self)
ss1698210010	NC_000019.8:18490412:C:T	NC_000019.10:18518602:C:T	(self)
75983116, 42090941, 29767414, 18751016, 16195836, 19679749, 39918984, 42090941, ss228068064, ss565891981, ss994150488, ss1081798868, ss1362596032, ss1637680290, ss1680674323, ss1937637827, ss2029592431, ss2961182127, ss2985768959, ss3017208772, ss3352228782, ss3684029166, ss3742910971, ss3835386226, ss3887902004, ss5433954577, ss5662102938, ss5840345421, ss5953519851	NC_000019.9:18629412:C:T	NC_000019.10:18518602:C:T	(self)
99743370, 535894084, 285572502, 11934000804, ss2224778227, ss3702477065, ss3821139460, ss5070026838, ss5306728195, ss5499325003, ss5612217435, ss5927541926	NC_000019.10:18518602:C:T	NC_000019.10:18518602: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 rs114394864

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

rs114394864