Name: rs6010819
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.

rs6010819

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:63044354 (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: A>C / A>G
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.047701 (6301/132094, GnomAD)
A=0.00430 (121/28150, 14KJPN)
A=0.00906 (150/16558, 8.3KJPN) (+ 12 more)
A=0.02726 (451/16542, ALFA)
A=0.0698 (447/6404, 1000G_30x)
A=0.0469 (235/5008, 1000G)
A=0.0000 (0/3854, ALSPAC)
A=0.0000 (0/3708, TWINSUK)
A=0.0000 (0/2926, KOREAN)
C=0.0000 (0/2926, KOREAN)
A=0.0118 (21/1778, Korea1K)
A=0.013 (7/548, SGDP_PRJ)
A=0.023 (5/216, Qatari)
A=0.00 (0/54, Siberian)
A=0.00 (0/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LINC01056 : Intron Variant
LINC01749 : 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	16542	A=0.02726	G=0.97274
European	Sub	12054	A=0.00332	G=0.99668
African	Sub	2864	A=0.1355	G=0.8645
African Others	Sub	108	A=0.120	G=0.880
African American	Sub	2756	A=0.1361	G=0.8639
Asian	Sub	108	A=0.000	G=1.000
East Asian	Sub	84	A=0.00	G=1.00
Other Asian	Sub	24	A=0.00	G=1.00
Latin American 1	Sub	146	A=0.027	G=0.973
Latin American 2	Sub	610	A=0.003	G=0.997
South Asian	Sub	94	A=0.00	G=1.00
Other	Sub	666	A=0.026	G=0.974

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	132094	A=0.047701	G=0.952299
gnomAD - Genomes	European	Sub	72700	A=0.01043	G=0.98957
gnomAD - Genomes	African	Sub	38104	A=0.13482	G=0.86518
gnomAD - Genomes	American	Sub	13008	A=0.02168	G=0.97832
gnomAD - Genomes	Ashkenazi Jewish	Sub	3218	A=0.0071	G=0.9929
gnomAD - Genomes	East Asian	Sub	3026	A=0.0076	G=0.9924
gnomAD - Genomes	Other	Sub	2038	A=0.0383	G=0.9617
14KJPN	JAPANESE	Study-wide	28150	A=0.00430	G=0.99570
8.3KJPN	JAPANESE	Study-wide	16558	A=0.00906	G=0.99094
Allele Frequency Aggregator	Total	Global	16542	A=0.02726	G=0.97274
Allele Frequency Aggregator	European	Sub	12054	A=0.00332	G=0.99668
Allele Frequency Aggregator	African	Sub	2864	A=0.1355	G=0.8645
Allele Frequency Aggregator	Other	Sub	666	A=0.026	G=0.974
Allele Frequency Aggregator	Latin American 2	Sub	610	A=0.003	G=0.997
Allele Frequency Aggregator	Latin American 1	Sub	146	A=0.027	G=0.973
Allele Frequency Aggregator	Asian	Sub	108	A=0.000	G=1.000
Allele Frequency Aggregator	South Asian	Sub	94	A=0.00	G=1.00
1000Genomes_30x	Global	Study-wide	6404	A=0.0698	G=0.9302
1000Genomes_30x	African	Sub	1786	A=0.1932	G=0.8068
1000Genomes_30x	Europe	Sub	1266	A=0.0253	G=0.9747
1000Genomes_30x	South Asian	Sub	1202	A=0.0150	G=0.9850
1000Genomes_30x	East Asian	Sub	1170	A=0.0179	G=0.9821
1000Genomes_30x	American	Sub	980	A=0.032	G=0.968
1000Genomes	Global	Study-wide	5008	A=0.0469	G=0.9531
1000Genomes	African	Sub	1322	A=0.1694	G=0.8306
1000Genomes	East Asian	Sub	1008	A=0.0000	G=1.0000
1000Genomes	Europe	Sub	1006	A=0.0010	G=0.9990
1000Genomes	South Asian	Sub	978	A=0.000	G=1.000
1000Genomes	American	Sub	694	A=0.014	G=0.986
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.0000	G=1.0000
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.0000	G=1.0000
KOREAN population from KRGDB	KOREAN	Study-wide	2926	A=0.0000	C=0.0000, G=1.0000
Korean Genome Project	KOREAN	Study-wide	1778	A=0.0118	G=0.9882
SGDP_PRJ	Global	Study-wide	548	A=0.013	G=0.987
Qatari	Global	Study-wide	216	A=0.023	G=0.977
Siberian	Global	Study-wide	54	A=0.00	G=1.00
The Danish reference pan genome	Danish	Study-wide	40	A=0.00	G=1.00

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 20	NC_000020.11:g.63044354A>C
GRCh38.p14 chr 20	NC_000020.11:g.63044354A>G
GRCh37.p13 chr 20	NC_000020.10:g.61675706A>C
GRCh37.p13 chr 20	NC_000020.10:g.61675706A>G

Gene: LINC01056, long intergenic non-protein coding RNA 1056 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LINC01056 transcript	NR_033369.1:n.	N/A	Intron Variant

Gene: LINC01749, long intergenic non-protein coding RNA 1749 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LINC01749 transcript	NR_033370.1: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	A=	C	G
GRCh38.p14 chr 20	NC_000020.11:g.63044354=	NC_000020.11:g.63044354A>C	NC_000020.11:g.63044354A>G
GRCh37.p13 chr 20	NC_000020.10:g.61675706=	NC_000020.10:g.61675706A>C	NC_000020.10:g.61675706A>G

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#.

60 SubSNP, 14 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss8309619	Apr 21, 2003 (114)
2	CSHL-HAPMAP	ss16885774	Feb 27, 2004 (120)
3	CSHL-HAPMAP	ss19470659	Feb 27, 2004 (120)
4	CSHL-HAPMAP	ss20120771	Feb 27, 2004 (120)
5	SSAHASNP	ss21785606	Apr 05, 2004 (121)
6	HGSV	ss77155558	Dec 07, 2007 (129)
7	HGSV	ss81190082	Dec 14, 2007 (130)
8	BCMHGSC_JDW	ss91754835	Mar 24, 2008 (129)
9	HUMANGENOME_JCVI	ss96206782	Feb 03, 2009 (130)
10	BGI	ss106199149	Feb 03, 2009 (130)
11	IGMI-SNU	ss115485298	Feb 03, 2009 (130)
12	ILLUMINA-UK	ss117609237	Feb 14, 2009 (130)
13	ENSEMBL	ss135676680	Dec 01, 2009 (131)
14	COMPLETE_GENOMICS	ss168421742	Jul 04, 2010 (132)
15	BUSHMAN	ss203944838	Jul 04, 2010 (132)
16	BCM-HGSC-SUB	ss208763551	Jul 04, 2010 (132)
17	BL	ss255769358	May 09, 2011 (134)
18	GMI	ss283444520	May 04, 2012 (137)
19	PJP	ss292598457	May 09, 2011 (134)
20	1000GENOMES	ss340865722	May 09, 2011 (134)
21	TISHKOFF	ss566365240	Apr 25, 2013 (138)
22	SSMP	ss662245639	Apr 25, 2013 (138)
23	JMKIDD_LAB	ss1082336525	Aug 21, 2014 (142)
24	1000GENOMES	ss1365473362	Aug 21, 2014 (142)
25	DDI	ss1429105046	Apr 01, 2015 (144)
26	EVA_GENOME_DK	ss1579576113	Apr 01, 2015 (144)
27	EVA_UK10K_ALSPAC	ss1639157033	Apr 01, 2015 (144)
28	EVA_UK10K_TWINSUK	ss1682151066	Apr 01, 2015 (144)
29	HAMMER_LAB	ss1809583756	Sep 08, 2015 (146)
30	WEILL_CORNELL_DGM	ss1938426465	Feb 12, 2016 (147)
31	JJLAB	ss2029993738	Sep 14, 2016 (149)
32	USC_VALOUEV	ss2158565029	Dec 20, 2016 (150)
33	GRF	ss2704262578	Nov 08, 2017 (151)
34	SWEGEN	ss3018468354	Nov 08, 2017 (151)
35	CSHL	ss3352593878	Nov 08, 2017 (151)
36	URBANLAB	ss3651054958	Oct 12, 2018 (152)
37	EVA_DECODE	ss3707304737	Jul 13, 2019 (153)
38	EVA	ss3758863693	Jul 13, 2019 (153)
39	PACBIO	ss3788694430	Jul 13, 2019 (153)
40	PACBIO	ss3793578345	Jul 13, 2019 (153)
41	PACBIO	ss3798465760	Jul 13, 2019 (153)
42	KHV_HUMAN_GENOMES	ss3822017915	Jul 13, 2019 (153)
43	EVA	ss3835763008	Apr 27, 2020 (154)
44	EVA	ss3841506344	Apr 27, 2020 (154)
45	EVA	ss3847020130	Apr 27, 2020 (154)
46	SGDP_PRJ	ss3889477208	Apr 27, 2020 (154)
47	KRGDB	ss3939801945	Apr 27, 2020 (154)
48	KOGIC	ss3982634712	Apr 27, 2020 (154)
49	TOMMO_GENOMICS	ss5230447587	Apr 27, 2021 (155)
50	1000G_HIGH_COVERAGE	ss5309422885	Oct 16, 2022 (156)
51	EVA	ss5438547099	Oct 16, 2022 (156)
52	1000G_HIGH_COVERAGE	ss5616173144	Oct 16, 2022 (156)
53	SANFORD_IMAGENETICS	ss5663561365	Oct 16, 2022 (156)
54	TOMMO_GENOMICS	ss5790503526	Oct 16, 2022 (156)
55	YY_MCH	ss5818196123	Oct 16, 2022 (156)
56	EVA	ss5845938656	Oct 16, 2022 (156)
57	EVA	ss5853215506	Oct 16, 2022 (156)
58	EVA	ss5924145010	Oct 16, 2022 (156)
59	EVA	ss5958495133	Oct 16, 2022 (156)
60	EVA	ss5981099272	Oct 16, 2022 (156)
61	1000Genomes	NC_000020.10 - 61675706	Oct 12, 2018 (152)
62	1000Genomes_30x	NC_000020.11 - 63044354	Oct 16, 2022 (156)
63	The Avon Longitudinal Study of Parents and Children	NC_000020.10 - 61675706	Oct 12, 2018 (152)
64	The Danish reference pan genome	NC_000020.10 - 61675706	Apr 27, 2020 (154)
65	gnomAD - Genomes	NC_000020.11 - 63044354	Apr 27, 2021 (155)
66	KOREAN population from KRGDB	NC_000020.10 - 61675706	Apr 27, 2020 (154)
67	Korean Genome Project	NC_000020.11 - 63044354	Apr 27, 2020 (154)
68	Qatari	NC_000020.10 - 61675706	Apr 27, 2020 (154)
69	SGDP_PRJ	NC_000020.10 - 61675706	Apr 27, 2020 (154)
70	Siberian	NC_000020.10 - 61675706	Apr 27, 2020 (154)
71	8.3KJPN	NC_000020.10 - 61675706	Apr 27, 2021 (155)
72	14KJPN	NC_000020.11 - 63044354	Oct 16, 2022 (156)
73	UK 10K study - Twins	NC_000020.10 - 61675706	Oct 12, 2018 (152)
74	ALFA	NC_000020.11 - 63044354	Apr 27, 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)
rs56901694	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
46979339, ss3939801945	NC_000020.10:61675705:A:C	NC_000020.11:63044353:A:C	(self)
ss77155558, ss81190082, ss91754835, ss117609237, ss168421742, ss203944838, ss208763551, ss255769358, ss283444520, ss292598457	NC_000020.9:61146150:A:G	NC_000020.11:63044353:A:G	(self)
78960982, 43721601, 5741052, 46979339, 20468387, 41494188, 11081383, 88416894, 43721601, ss340865722, ss566365240, ss662245639, ss1082336525, ss1365473362, ss1429105046, ss1579576113, ss1639157033, ss1682151066, ss1809583756, ss1938426465, ss2029993738, ss2158565029, ss2704262578, ss3018468354, ss3352593878, ss3758863693, ss3788694430, ss3793578345, ss3798465760, ss3835763008, ss3841506344, ss3889477208, ss3939801945, ss5230447587, ss5438547099, ss5663561365, ss5845938656, ss5958495133, ss5981099272	NC_000020.10:61675705:A:G	NC_000020.11:63044353:A:G	(self)
103699079, 556850189, 39012713, 124340630, 5874264070, ss3651054958, ss3707304737, ss3822017915, ss3847020130, ss3982634712, ss5309422885, ss5616173144, ss5790503526, ss5818196123, ss5853215506, ss5924145010	NC_000020.11:63044353:A:G	NC_000020.11:63044353:A:G	(self)
ss8309619, ss16885774, ss19470659, ss20120771, ss21785606	NT_011333.5:412336:A:G	NC_000020.11:63044353:A:G	(self)
ss96206782, ss106199149, ss115485298, ss135676680	NT_011333.6:412336:A:G	NC_000020.11:63044353:A:G	(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 rs6010819

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

rs6010819