Name: rs271
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.

rs271

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr8:19956191 (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>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.21566 (6094/28258, 14KJPN)
A=0.08595 (2213/25748, ALFA)
A=0.21808 (3655/16760, 8.3KJPN) (+ 18 more)
A=0.1427 (914/6404, 1000G_30x)
A=0.1420 (711/5008, 1000G)
A=0.1404 (629/4480, Estonian)
A=0.1515 (584/3854, ALSPAC)
A=0.1497 (555/3708, TWINSUK)
A=0.2075 (608/2930, KOREAN)
A=0.1221 (231/1892, HapMap)
A=0.1949 (357/1832, Korea1K)
A=0.154 (154/998, GoNL)
A=0.165 (103/626, Chileans)
A=0.122 (73/600, NorthernSweden)
A=0.167 (89/534, MGP)
A=0.106 (23/216, Qatari)
A=0.215 (46/214, Vietnamese)
G=0.412 (61/148, SGDP_PRJ)
A=0.15 (6/40, GENOME_DK)
G=0.50 (8/16, Siberian)
A=0.50 (8/16, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: LPL : Intron Variant
Publications: 3 citations
Genomic View: See rs on genome

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
14KJPN	JAPANESE	Study-wide	28258	G=0.78434	A=0.21566
Allele Frequency Aggregator	Total	Global	25748	G=0.91405	A=0.08595, T=0.00000
Allele Frequency Aggregator	European	Sub	15464	G=0.90423	A=0.09577, T=0.00000
Allele Frequency Aggregator	African	Sub	5928	G=0.9678	A=0.0322, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	2604	G=0.8594	A=0.1406, T=0.0000
Allele Frequency Aggregator	Other	Sub	1300	G=0.8831	A=0.1169, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	266	G=0.955	A=0.045, T=0.000
Allele Frequency Aggregator	Asian	Sub	98	G=0.93	A=0.07, T=0.00
Allele Frequency Aggregator	South Asian	Sub	88	G=0.95	A=0.05, T=0.00
8.3KJPN	JAPANESE	Study-wide	16760	G=0.78192	A=0.21808
1000Genomes_30x	Global	Study-wide	6404	G=0.8573	A=0.1427
1000Genomes_30x	African	Sub	1786	G=0.9608	A=0.0392
1000Genomes_30x	Europe	Sub	1266	G=0.8318	A=0.1682
1000Genomes_30x	South Asian	Sub	1202	G=0.8428	A=0.1572
1000Genomes_30x	East Asian	Sub	1170	G=0.7521	A=0.2479
1000Genomes_30x	American	Sub	980	G=0.845	A=0.155
1000Genomes	Global	Study-wide	5008	G=0.8580	A=0.1420
1000Genomes	African	Sub	1322	G=0.9607	A=0.0393
1000Genomes	East Asian	Sub	1008	G=0.7560	A=0.2440
1000Genomes	Europe	Sub	1006	G=0.8469	A=0.1531
1000Genomes	South Asian	Sub	978	G=0.839	A=0.161
1000Genomes	American	Sub	694	G=0.853	A=0.147
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.8596	A=0.1404
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.8485	A=0.1515
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.8503	A=0.1497
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.7925	A=0.2075
HapMap	Global	Study-wide	1892	G=0.8779	A=0.1221
HapMap	American	Sub	770	G=0.842	A=0.158
HapMap	African	Sub	692	G=0.965	A=0.035
HapMap	Asian	Sub	254	G=0.780	A=0.220
HapMap	Europe	Sub	176	G=0.835	A=0.165
Korean Genome Project	KOREAN	Study-wide	1832	G=0.8051	A=0.1949
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.846	A=0.154
Chileans	Chilean	Study-wide	626	G=0.835	A=0.165
Northern Sweden	ACPOP	Study-wide	600	G=0.878	A=0.122
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.833	A=0.167
Qatari	Global	Study-wide	216	G=0.894	A=0.106
A Vietnamese Genetic Variation Database	Global	Study-wide	214	G=0.785	A=0.215
SGDP_PRJ	Global	Study-wide	148	G=0.412	A=0.588
The Danish reference pan genome	Danish	Study-wide	40	G=0.85	A=0.15
Siberian	Global	Study-wide	16	G=0.50	A=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 8	NC_000008.11:g.19956191G>A
GRCh38.p14 chr 8	NC_000008.11:g.19956191G>T
GRCh37.p13 chr 8	NC_000008.10:g.19813702G>A
GRCh37.p13 chr 8	NC_000008.10:g.19813702G>T
LPL RefSeqGene (LRG_1298)	NG_008855.2:g.59475G>A
LPL RefSeqGene (LRG_1298)	NG_008855.2:g.59475G>T

Gene: LPL, lipoprotein lipase (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LPL transcript	NM_000237.3:c.1018+108G>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.

Allele: A (allele ID: 1278906 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001716265.1	not provided	Benign

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	T
GRCh38.p14 chr 8	NC_000008.11:g.19956191=	NC_000008.11:g.19956191G>A	NC_000008.11:g.19956191G>T
GRCh37.p13 chr 8	NC_000008.10:g.19813702=	NC_000008.10:g.19813702G>A	NC_000008.10:g.19813702G>T
LPL RefSeqGene (LRG_1298)	NG_008855.2:g.59475=	NG_008855.2:g.59475G>A	NG_008855.2:g.59475G>T
LPL transcript	NM_000237.2:c.1018+108=	NM_000237.2:c.1018+108G>A	NM_000237.2:c.1018+108G>T
LPL transcript	NM_000237.3:c.1018+108=	NM_000237.3:c.1018+108G>A	NM_000237.3:c.1018+108G>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#.

68 SubSNP, 24 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	DEBNICK	ss271	Sep 19, 2000 (36)
2	YUSUKE	ss2990802	Jun 15, 2001 (96)
3	PERLEGEN	ss24648885	Sep 20, 2004 (123)
4	AFFY	ss66208358	Nov 30, 2006 (127)
5	PERLEGEN	ss69043149	May 17, 2007 (127)
6	AFFY	ss76303695	Dec 08, 2007 (130)
7	KRIBB_YJKIM	ss81403830	Dec 14, 2007 (130)
8	BGI	ss104512510	Dec 01, 2009 (131)
9	COMPLETE_GENOMICS	ss162224035	Jul 04, 2010 (132)
10	AFFY	ss173191519	Jul 04, 2010 (132)
11	1000GENOMES	ss223585636	Jul 14, 2010 (132)
12	1000GENOMES	ss234352472	Jul 15, 2010 (132)
13	1000GENOMES	ss241227296	Jul 15, 2010 (132)
14	ILLUMINA	ss244291598	Jul 04, 2010 (132)
15	BL	ss254171426	May 09, 2011 (134)
16	GMI	ss279724016	May 04, 2012 (137)
17	ILLUMINA	ss410878539	Sep 17, 2011 (135)
18	SSMP	ss655035554	Apr 25, 2013 (138)
19	EVA-GONL	ss985272621	Aug 21, 2014 (142)
20	JMKIDD_LAB	ss1075340008	Aug 21, 2014 (142)
21	1000GENOMES	ss1328915156	Aug 21, 2014 (142)
22	EVA_GENOME_DK	ss1582593755	Apr 01, 2015 (144)
23	EVA_DECODE	ss1594862275	Apr 01, 2015 (144)
24	EVA_UK10K_ALSPAC	ss1620133706	Apr 01, 2015 (144)
25	EVA_UK10K_TWINSUK	ss1663127739	Apr 01, 2015 (144)
26	EVA_MGP	ss1711194710	Apr 01, 2015 (144)
27	EVA_SVP	ss1713021093	Apr 01, 2015 (144)
28	WEILL_CORNELL_DGM	ss1928562372	Feb 12, 2016 (147)
29	GENOMED	ss1970929936	Jul 19, 2016 (147)
30	JJLAB	ss2024980552	Sep 14, 2016 (149)
31	USC_VALOUEV	ss2153202015	Dec 20, 2016 (150)
32	HUMAN_LONGEVITY	ss2301287955	Dec 20, 2016 (150)
33	SYSTEMSBIOZJU	ss2626975147	Nov 08, 2017 (151)
34	GRF	ss2708962523	Nov 08, 2017 (151)
35	GNOMAD	ss2864092868	Nov 08, 2017 (151)
36	SWEGEN	ss3002804436	Nov 08, 2017 (151)
37	BIOINF_KMB_FNS_UNIBA	ss3026281102	Nov 08, 2017 (151)
38	CSHL	ss3348082027	Nov 08, 2017 (151)
39	OMUKHERJEE_ADBS	ss3646373022	Oct 12, 2018 (152)
40	EGCUT_WGS	ss3670484472	Jul 13, 2019 (153)
41	EVA_DECODE	ss3721555445	Jul 13, 2019 (153)
42	ACPOP	ss3735467037	Jul 13, 2019 (153)
43	EVA	ss3767717758	Jul 13, 2019 (153)
44	PACBIO	ss3786087364	Jul 13, 2019 (153)
45	PACBIO	ss3791353772	Jul 13, 2019 (153)
46	PACBIO	ss3796234939	Jul 13, 2019 (153)
47	KHV_HUMAN_GENOMES	ss3810881223	Jul 13, 2019 (153)
48	EVA	ss3831054902	Apr 26, 2020 (154)
49	SGDP_PRJ	ss3869436723	Apr 26, 2020 (154)
50	KRGDB	ss3916862544	Apr 26, 2020 (154)
51	KOGIC	ss3963402177	Apr 26, 2020 (154)
52	FSA-LAB	ss3984393698	Apr 27, 2021 (155)
53	FSA-LAB	ss3984393699	Apr 27, 2021 (155)
54	TOPMED	ss4778093076	Apr 27, 2021 (155)
55	TOPMED	ss4778093077	Apr 27, 2021 (155)
56	TOMMO_GENOMICS	ss5187654424	Apr 27, 2021 (155)
57	1000G_HIGH_COVERAGE	ss5276330182	Oct 14, 2022 (156)
58	EVA	ss5379642213	Oct 14, 2022 (156)
59	HUGCELL_USP	ss5472980796	Oct 14, 2022 (156)
60	EVA	ss5509275469	Oct 14, 2022 (156)
61	1000G_HIGH_COVERAGE	ss5566254052	Oct 14, 2022 (156)
62	EVA	ss5624176082	Oct 14, 2022 (156)
63	SANFORD_IMAGENETICS	ss5644923850	Oct 14, 2022 (156)
64	TOMMO_GENOMICS	ss5729271028	Oct 14, 2022 (156)
65	YY_MCH	ss5809516738	Oct 14, 2022 (156)
66	EVA	ss5830224470	Oct 14, 2022 (156)
67	EVA	ss5888021529	Oct 14, 2022 (156)
68	EVA	ss5974104347	Oct 14, 2022 (156)
69	1000Genomes	NC_000008.10 - 19813702	Oct 12, 2018 (152)
70	1000Genomes_30x	NC_000008.11 - 19956191	Oct 14, 2022 (156)
71	The Avon Longitudinal Study of Parents and Children	NC_000008.10 - 19813702	Oct 12, 2018 (152)
72	Chileans	NC_000008.10 - 19813702	Apr 26, 2020 (154)
73	Genetic variation in the Estonian population	NC_000008.10 - 19813702	Oct 12, 2018 (152)
74	The Danish reference pan genome	NC_000008.10 - 19813702	Apr 26, 2020 (154)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 289194919 (NC_000008.11:19956190:G:A 17219/140162) Row 289194920 (NC_000008.11:19956190:G:T 1/140202)	-	Apr 27, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 289194919 (NC_000008.11:19956190:G:A 17219/140162) Row 289194920 (NC_000008.11:19956190:G:T 1/140202)	-	Apr 27, 2021 (155)
77	Genome of the Netherlands Release 5	NC_000008.10 - 19813702	Apr 26, 2020 (154)
78	HapMap	NC_000008.11 - 19956191	Apr 26, 2020 (154)
79	KOREAN population from KRGDB	NC_000008.10 - 19813702	Apr 26, 2020 (154)
80	Korean Genome Project	NC_000008.11 - 19956191	Apr 26, 2020 (154)
81	Medical Genome Project healthy controls from Spanish population	NC_000008.10 - 19813702	Apr 26, 2020 (154)
82	Northern Sweden	NC_000008.10 - 19813702	Jul 13, 2019 (153)
83	Qatari	NC_000008.10 - 19813702	Apr 26, 2020 (154)
84	SGDP_PRJ	NC_000008.10 - 19813702	Apr 26, 2020 (154)
85	Siberian	NC_000008.10 - 19813702	Apr 26, 2020 (154)
86	8.3KJPN	NC_000008.10 - 19813702	Apr 27, 2021 (155)
87	14KJPN	NC_000008.11 - 19956191	Oct 14, 2022 (156)
88	TopMed Submission ignored due to conflicting rows: Row 615470636 (NC_000008.11:19956190:G:A 33190/264690) Row 615470637 (NC_000008.11:19956190:G:T 1/264690)	-	Apr 27, 2021 (155)
89	TopMed Submission ignored due to conflicting rows: Row 615470636 (NC_000008.11:19956190:G:A 33190/264690) Row 615470637 (NC_000008.11:19956190:G:T 1/264690)	-	Apr 27, 2021 (155)
90	UK 10K study - Twins	NC_000008.10 - 19813702	Oct 12, 2018 (152)
91	A Vietnamese Genetic Variation Database	NC_000008.10 - 19813702	Jul 13, 2019 (153)
92	ALFA	NC_000008.11 - 19956191	Apr 27, 2021 (155)
93	ClinVar	RCV001716265.1	Oct 14, 2022 (156)

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)
rs17410604	Oct 08, 2004 (123)
rs56491265	May 25, 2008 (130)
rs58038625	Feb 26, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss162224035, ss254171426, ss279724016, ss1594862275, ss1713021093	NC_000008.9:19857981:G:A	NC_000008.11:19956190:G:A	(self)
41009899, 22797099, 429640, 16222720, 8758693, 10186937, 24039938, 310470, 8751902, 10604302, 21453703, 5718369, 45623731, 22797099, 5083470, ss223585636, ss234352472, ss241227296, ss655035554, ss985272621, ss1075340008, ss1328915156, ss1582593755, ss1620133706, ss1663127739, ss1711194710, ss1928562372, ss1970929936, ss2024980552, ss2153202015, ss2626975147, ss2708962523, ss2864092868, ss3002804436, ss3348082027, ss3646373022, ss3670484472, ss3735467037, ss3767717758, ss3786087364, ss3791353772, ss3796234939, ss3831054902, ss3869436723, ss3916862544, ss3984393698, ss3984393699, ss5187654424, ss5379642213, ss5509275469, ss5624176082, ss5644923850, ss5830224470, ss5974104347	NC_000008.10:19813701:G:A	NC_000008.11:19956190:G:A	(self)
RCV001716265.1, 53779987, 3580984, 19780178, 63108132, 2966549320, ss2301287955, ss3026281102, ss3721555445, ss3810881223, ss3963402177, ss4778093076, ss5276330182, ss5472980796, ss5566254052, ss5729271028, ss5809516738, ss5888021529	NC_000008.11:19956190:G:A	NC_000008.11:19956190:G:A	(self)
ss271, ss2990802, ss24648885, ss66208358, ss69043149, ss76303695, ss81403830, ss104512510, ss173191519, ss244291598, ss410878539	NT_167187.1:7671847:G:A	NC_000008.11:19956190:G:A	(self)
2966549320, ss4778093077	NC_000008.11:19956190:G:T	NC_000008.11:19956190:G:T	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

3 citations for rs271

PMID	Title	Author	Year	Journal
20018072	Different models and single-nucleotide polymorphisms signal the simulated weak gene-gene interaction for a quantitative trait using haplotype-based and mixed models testing.	Kovac IP et al.	2009	BMC proceedings
23105935	Interaction Effects of Lipoprotein Lipase Polymorphisms with Lifestyle on Lipid Levels in a Korean Population: A Cross-sectional Study.	Pyun JA et al.	2012	Genomics & informatics
25464127	On the analysis of a repeated measure design in genome-wide association analysis.	Lee Y et al.	2014	International journal of environmental research and public health

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

rs271