Name: rs6074
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.

rs6074

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:58568764 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.134169 (37836/282002, ALFA)
A=0.135868 (35963/264690, TOPMED)
A=0.15288 (12031/78694, PAGE_STUDY) (+ 21 more)
A=0.30384 (8586/28258, 14KJPN)
A=0.30352 (5087/16760, 8.3KJPN)
A=0.12739 (1652/12968, GO-ESP)
A=0.1988 (1273/6404, 1000G_30x)
A=0.2015 (1009/5008, 1000G)
A=0.1768 (792/4480, Estonian)
A=0.1404 (541/3854, ALSPAC)
A=0.1489 (552/3708, TWINSUK)
A=0.2877 (843/2930, KOREAN)
A=0.1640 (310/1890, HapMap)
A=0.2751 (504/1832, Korea1K)
A=0.164 (164/998, GoNL)
A=0.275 (217/788, PRJEB37584)
A=0.210 (129/614, Vietnamese)
A=0.165 (99/600, NorthernSweden)
A=0.079 (42/534, MGP)
A=0.247 (74/300, FINRISK)
C=0.424 (95/224, SGDP_PRJ)
A=0.088 (19/216, Qatari)
A=0.15 (6/40, GENOME_DK)
C=0.45 (9/20, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: LIPC : Synonymous Variant
Publications: 4 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	282096	C=0.865854	A=0.134146, G=0.000000
European	Sub	247138	C=0.868681	A=0.131319, G=0.000000
African	Sub	8076	C=0.9328	A=0.0672, G=0.0000
African Others	Sub	288	C=0.958	A=0.042, G=0.000
African American	Sub	7788	C=0.9318	A=0.0682, G=0.0000
Asian	Sub	3828	C=0.7437	A=0.2563, G=0.0000
East Asian	Sub	3072	C=0.7340	A=0.2660, G=0.0000
Other Asian	Sub	756	C=0.783	A=0.217, G=0.000
Latin American 1	Sub	1364	C=0.8937	A=0.1063, G=0.0000
Latin American 2	Sub	6396	C=0.7738	A=0.2262, G=0.0000
South Asian	Sub	308	C=0.672	A=0.328, G=0.000
Other	Sub	14986	C=0.85513	A=0.14487, G=0.00000

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
Allele Frequency Aggregator	Total	Global	282002	C=0.865831	A=0.134169, G=0.000000
Allele Frequency Aggregator	European	Sub	247062	C=0.868660	A=0.131340, G=0.000000
Allele Frequency Aggregator	Other	Sub	14968	C=0.85502	A=0.14498, G=0.00000
Allele Frequency Aggregator	African	Sub	8076	C=0.9328	A=0.0672, G=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	6396	C=0.7738	A=0.2262, G=0.0000
Allele Frequency Aggregator	Asian	Sub	3828	C=0.7437	A=0.2563, G=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	1364	C=0.8937	A=0.1063, G=0.0000
Allele Frequency Aggregator	South Asian	Sub	308	C=0.672	A=0.328, G=0.000
TopMed	Global	Study-wide	264690	C=0.864132	A=0.135868
The PAGE Study	Global	Study-wide	78694	C=0.84712	A=0.15288
The PAGE Study	AfricanAmerican	Sub	32516	C=0.90165	A=0.09835
The PAGE Study	Mexican	Sub	10810	C=0.75541	A=0.24459
The PAGE Study	Asian	Sub	8316	C=0.7195	A=0.2805
The PAGE Study	PuertoRican	Sub	7918	C=0.8788	A=0.1212
The PAGE Study	NativeHawaiian	Sub	4534	C=0.8963	A=0.1037
The PAGE Study	Cuban	Sub	4228	C=0.8952	A=0.1048
The PAGE Study	Dominican	Sub	3826	C=0.8813	A=0.1187
The PAGE Study	CentralAmerican	Sub	2448	C=0.7908	A=0.2092
The PAGE Study	SouthAmerican	Sub	1982	C=0.7548	A=0.2452
The PAGE Study	NativeAmerican	Sub	1260	C=0.8238	A=0.1762
The PAGE Study	SouthAsian	Sub	856	C=0.639	A=0.361
14KJPN	JAPANESE	Study-wide	28258	C=0.69616	A=0.30384
8.3KJPN	JAPANESE	Study-wide	16760	C=0.69648	A=0.30352
GO Exome Sequencing Project	Global	Study-wide	12968	C=0.87261	A=0.12739
GO Exome Sequencing Project	European American	Sub	8584	C=0.8579	A=0.1421
GO Exome Sequencing Project	African American	Sub	4384	C=0.9015	A=0.0985
1000Genomes_30x	Global	Study-wide	6404	C=0.8004	A=0.1988, G=0.0008
1000Genomes_30x	African	Sub	1786	C=0.9188	A=0.0795, G=0.0017
1000Genomes_30x	Europe	Sub	1266	C=0.8436	A=0.1564, G=0.0000
1000Genomes_30x	South Asian	Sub	1202	C=0.6331	A=0.3669, G=0.0000
1000Genomes_30x	East Asian	Sub	1170	C=0.7487	A=0.2513, G=0.0000
1000Genomes_30x	American	Sub	980	C=0.796	A=0.202, G=0.002
1000Genomes	Global	Study-wide	5008	C=0.7979	A=0.2015, G=0.0006
1000Genomes	African	Sub	1322	C=0.9168	A=0.0817, G=0.0015
1000Genomes	East Asian	Sub	1008	C=0.7510	A=0.2490, G=0.0000
1000Genomes	Europe	Sub	1006	C=0.8439	A=0.1561, G=0.0000
1000Genomes	South Asian	Sub	978	C=0.635	A=0.365, G=0.000
1000Genomes	American	Sub	694	C=0.803	A=0.196, G=0.001
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.8232	A=0.1768
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.8596	A=0.1404
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8511	A=0.1489
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.7123	A=0.2877
HapMap	Global	Study-wide	1890	C=0.8360	A=0.1640
HapMap	American	Sub	768	C=0.792	A=0.208
HapMap	African	Sub	692	C=0.905	A=0.095
HapMap	Asian	Sub	254	C=0.720	A=0.280
HapMap	Europe	Sub	176	C=0.926	A=0.074
Korean Genome Project	KOREAN	Study-wide	1832	C=0.7249	A=0.2751
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.836	A=0.164
CNV burdens in cranial meningiomas	Global	Study-wide	788	C=0.725	A=0.275
CNV burdens in cranial meningiomas	CRM	Sub	788	C=0.725	A=0.275
A Vietnamese Genetic Variation Database	Global	Study-wide	614	C=0.790	A=0.210
Northern Sweden	ACPOP	Study-wide	600	C=0.835	A=0.165
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.921	A=0.079
FINRISK	Finnish from FINRISK project	Study-wide	300	C=0.753	A=0.247
SGDP_PRJ	Global	Study-wide	224	C=0.424	A=0.576
Qatari	Global	Study-wide	216	C=0.912	A=0.088
The Danish reference pan genome	Danish	Study-wide	40	C=0.85	A=0.15
Siberian	Global	Study-wide	20	C=0.45	A=0.55

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 15	NC_000015.10:g.58568764C>A
GRCh38.p14 chr 15	NC_000015.10:g.58568764C>G
GRCh37.p13 chr 15	NC_000015.9:g.58860963C>A
GRCh37.p13 chr 15	NC_000015.9:g.58860963C>G
LIPC RefSeqGene	NG_011465.2:g.141789C>A
LIPC RefSeqGene	NG_011465.2:g.141789C>G

Gene: LIPC, lipase C, hepatic type (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LIPC transcript	NM_000236.3:c.1437C>A	T [ACC] > T [ACA]	Coding Sequence Variant
hepatic triacylglycerol lipase precursor	NP_000227.2:p.Thr479=	T (Thr) > T (Thr)	Synonymous Variant
LIPC transcript	NM_000236.3:c.1437C>G	T [ACC] > T [ACG]	Coding Sequence Variant
hepatic triacylglycerol lipase precursor	NP_000227.2:p.Thr479=	T (Thr) > T (Thr)	Synonymous Variant
LIPC transcript variant X7	XM_017022176.2:c.	N/A	Genic Downstream Transcript Variant
LIPC transcript variant X1	XM_005254374.5:c.1473C>A	T [ACC] > T [ACA]	Coding Sequence Variant
hepatic triacylglycerol lipase isoform X1	XP_005254431.2:p.Thr491=	T (Thr) > T (Thr)	Synonymous Variant
LIPC transcript variant X1	XM_005254374.5:c.1473C>G	T [ACC] > T [ACG]	Coding Sequence Variant
hepatic triacylglycerol lipase isoform X1	XP_005254431.2:p.Thr491=	T (Thr) > T (Thr)	Synonymous Variant
LIPC transcript variant X2	XM_005254372.2:c.1437C>A	T [ACC] > T [ACA]	Coding Sequence Variant
hepatic triacylglycerol lipase isoform X2	XP_005254429.1:p.Thr479=	T (Thr) > T (Thr)	Synonymous Variant
LIPC transcript variant X2	XM_005254372.2:c.1437C>G	T [ACC] > T [ACG]	Coding Sequence Variant
hepatic triacylglycerol lipase isoform X2	XP_005254429.1:p.Thr479=	T (Thr) > T (Thr)	Synonymous Variant
LIPC transcript variant X3	XM_024449916.2:c.1437C>A	T [ACC] > T [ACA]	Coding Sequence Variant
hepatic triacylglycerol lipase isoform X2	XP_024305684.1:p.Thr479=	T (Thr) > T (Thr)	Synonymous Variant
LIPC transcript variant X3	XM_024449916.2:c.1437C>G	T [ACC] > T [ACG]	Coding Sequence Variant
hepatic triacylglycerol lipase isoform X2	XP_024305684.1:p.Thr479=	T (Thr) > T (Thr)	Synonymous Variant
LIPC transcript variant X4	XM_024449917.2:c.1437C>A	T [ACC] > T [ACA]	Coding Sequence Variant
hepatic triacylglycerol lipase isoform X2	XP_024305685.1:p.Thr479=	T (Thr) > T (Thr)	Synonymous Variant
LIPC transcript variant X4	XM_024449917.2:c.1437C>G	T [ACC] > T [ACG]	Coding Sequence Variant
hepatic triacylglycerol lipase isoform X2	XP_024305685.1:p.Thr479=	T (Thr) > T (Thr)	Synonymous Variant
LIPC transcript variant X5	XM_006720502.5:c.1296C>A	T [ACC] > T [ACA]	Coding Sequence Variant
hepatic triacylglycerol lipase isoform X3	XP_006720565.1:p.Thr432=	T (Thr) > T (Thr)	Synonymous Variant
LIPC transcript variant X5	XM_006720502.5:c.1296C>G	T [ACC] > T [ACG]	Coding Sequence Variant
hepatic triacylglycerol lipase isoform X3	XP_006720565.1:p.Thr432=	T (Thr) > T (Thr)	Synonymous Variant
LIPC transcript variant X6	XM_047432491.1:c.1296C>A	T [ACC] > T [ACA]	Coding Sequence Variant
hepatic triacylglycerol lipase isoform X3	XP_047288447.1:p.Thr432=	T (Thr) > T (Thr)	Synonymous Variant
LIPC transcript variant X6	XM_047432491.1:c.1296C>G	T [ACC] > T [ACG]	Coding Sequence Variant
hepatic triacylglycerol lipase isoform X3	XP_047288447.1:p.Thr432=	T (Thr) > T (Thr)	Synonymous 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: 340970 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000354550.3	Hyperlipidemia due to hepatic triglyceride lipase deficiency	Benign
RCV001672514.5	not provided	Benign

Allele: G (allele ID: 739704 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000901560.3	not provided	Likely-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	C=	A	G
GRCh38.p14 chr 15	NC_000015.10:g.58568764=	NC_000015.10:g.58568764C>A	NC_000015.10:g.58568764C>G
GRCh37.p13 chr 15	NC_000015.9:g.58860963=	NC_000015.9:g.58860963C>A	NC_000015.9:g.58860963C>G
LIPC RefSeqGene	NG_011465.2:g.141789=	NG_011465.2:g.141789C>A	NG_011465.2:g.141789C>G
LIPC transcript	NM_000236.3:c.1437=	NM_000236.3:c.1437C>A	NM_000236.3:c.1437C>G
LIPC transcript	NM_000236.2:c.1437=	NM_000236.2:c.1437C>A	NM_000236.2:c.1437C>G
LIPC transcript variant X1	XM_005254374.5:c.1473=	XM_005254374.5:c.1473C>A	XM_005254374.5:c.1473C>G
LIPC transcript variant X1	XM_005254374.4:c.1473=	XM_005254374.4:c.1473C>A	XM_005254374.4:c.1473C>G
LIPC transcript variant X2	XM_005254374.3:c.1374=	XM_005254374.3:c.1374C>A	XM_005254374.3:c.1374C>G
LIPC transcript variant X3	XM_005254374.2:c.1374=	XM_005254374.2:c.1374C>A	XM_005254374.2:c.1374C>G
LIPC transcript variant X3	XM_005254374.1:c.1374=	XM_005254374.1:c.1374C>A	XM_005254374.1:c.1374C>G
LIPC transcript variant X5	XM_006720502.5:c.1296=	XM_006720502.5:c.1296C>A	XM_006720502.5:c.1296C>G
LIPC transcript variant X5	XM_006720502.4:c.1296=	XM_006720502.4:c.1296C>A	XM_006720502.4:c.1296C>G
LIPC transcript variant X3	XM_006720502.3:c.1296=	XM_006720502.3:c.1296C>A	XM_006720502.3:c.1296C>G
LIPC transcript variant X3	XM_006720502.2:c.1296=	XM_006720502.2:c.1296C>A	XM_006720502.2:c.1296C>G
LIPC transcript variant X5	XM_006720502.1:c.1296=	XM_006720502.1:c.1296C>A	XM_006720502.1:c.1296C>G
LIPC transcript variant X3	XM_024449916.2:c.1437=	XM_024449916.2:c.1437C>A	XM_024449916.2:c.1437C>G
LIPC transcript variant X2	XM_024449916.1:c.1437=	XM_024449916.1:c.1437C>A	XM_024449916.1:c.1437C>G
LIPC transcript variant X2	XM_005254372.2:c.1437=	XM_005254372.2:c.1437C>A	XM_005254372.2:c.1437C>G
LIPC transcript variant X3	XM_005254372.1:c.1437=	XM_005254372.1:c.1437C>A	XM_005254372.1:c.1437C>G
LIPC transcript variant X4	XM_024449917.2:c.1437=	XM_024449917.2:c.1437C>A	XM_024449917.2:c.1437C>G
LIPC transcript variant X4	XM_024449917.1:c.1437=	XM_024449917.1:c.1437C>A	XM_024449917.1:c.1437C>G
LIPC transcript variant X6	XM_047432491.1:c.1296=	XM_047432491.1:c.1296C>A	XM_047432491.1:c.1296C>G
hepatic triacylglycerol lipase precursor	NP_000227.2:p.Thr479=	NP_000227.2:p.Thr479=	NP_000227.2:p.Thr479=
hepatic triacylglycerol lipase isoform X1	XP_005254431.2:p.Thr491=	XP_005254431.2:p.Thr491=	XP_005254431.2:p.Thr491=
hepatic triacylglycerol lipase isoform X3	XP_006720565.1:p.Thr432=	XP_006720565.1:p.Thr432=	XP_006720565.1:p.Thr432=
hepatic triacylglycerol lipase isoform X2	XP_024305684.1:p.Thr479=	XP_024305684.1:p.Thr479=	XP_024305684.1:p.Thr479=
hepatic triacylglycerol lipase isoform X2	XP_005254429.1:p.Thr479=	XP_005254429.1:p.Thr479=	XP_005254429.1:p.Thr479=
hepatic triacylglycerol lipase isoform X2	XP_024305685.1:p.Thr479=	XP_024305685.1:p.Thr479=	XP_024305685.1:p.Thr479=
hepatic triacylglycerol lipase isoform X3	XP_047288447.1:p.Thr432=	XP_047288447.1:p.Thr432=	XP_047288447.1:p.Thr432=
hepatic triacylglycerol lipase isoform X2	XP_005254431.1:p.Thr458=	XP_005254431.1:p.Thr458=	XP_005254431.1:p.Thr458=

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#.

139 SubSNP, 30 Frequency, 3 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	WIAF-CSNP	ss7691	Sep 19, 2000 (52)
2	LEE	ss1513360	Oct 04, 2000 (86)
3	YUSUKE	ss3250139	Sep 28, 2001 (100)
4	LEE	ss4406609	May 29, 2002 (108)
5	CGAP-GAI	ss16232782	Feb 27, 2004 (120)
6	PERLEGEN	ss24224746	Sep 20, 2004 (123)
7	ABI	ss43724224	Mar 13, 2006 (126)
8	SNP500CANCER	ss48295381	Mar 13, 2006 (126)
9	ILLUMINA	ss65735037	Oct 16, 2006 (127)
10	ILLUMINA	ss74992680	Dec 06, 2007 (129)
11	HGSV	ss84451111	Dec 14, 2007 (130)
12	CORNELL	ss86241216	Mar 23, 2008 (129)
13	BCMHGSC_JDW	ss90174156	Mar 24, 2008 (129)
14	HUMANGENOME_JCVI	ss96815031	Feb 03, 2009 (130)
15	BGI	ss103243711	Dec 01, 2009 (131)
16	1000GENOMES	ss108858698	Jan 23, 2009 (130)
17	KRIBB_YJKIM	ss119337759	Dec 01, 2009 (131)
18	ENSEMBL	ss136370902	Dec 01, 2009 (131)
19	ENSEMBL	ss144159735	Dec 01, 2009 (131)
20	GMI	ss156603813	Dec 01, 2009 (131)
21	SEATTLESEQ	ss159730813	Dec 01, 2009 (131)
22	ILLUMINA	ss160762767	Dec 01, 2009 (131)
23	COMPLETE_GENOMICS	ss168107143	Jul 04, 2010 (132)
24	ILLUMINA	ss173975341	Jul 04, 2010 (132)
25	BUSHMAN	ss200904354	Jul 04, 2010 (132)
26	BCM-HGSC-SUB	ss207238295	Jul 04, 2010 (132)
27	1000GENOMES	ss226919534	Jul 14, 2010 (132)
28	1000GENOMES	ss236798034	Jul 15, 2010 (132)
29	1000GENOMES	ss243181860	Jul 15, 2010 (132)
30	GMI	ss282277173	May 04, 2012 (137)
31	PJP	ss291730827	May 09, 2011 (134)
32	NHLBI-ESP	ss342404823	May 09, 2011 (134)
33	ILLUMINA	ss481207728	May 04, 2012 (137)
34	ILLUMINA	ss481230977	May 04, 2012 (137)
35	ILLUMINA	ss482218067	Sep 08, 2015 (146)
36	ILLUMINA	ss485399159	May 04, 2012 (137)
37	1000GENOMES	ss491084619	May 04, 2012 (137)
38	CLINSEQ_SNP	ss491701652	May 04, 2012 (137)
39	ILLUMINA	ss537336257	Sep 08, 2015 (146)
40	TISHKOFF	ss564511692	Apr 25, 2013 (138)
41	SSMP	ss660241880	Apr 25, 2013 (138)
42	ILLUMINA	ss778564409	Sep 08, 2015 (146)
43	ILLUMINA	ss783145078	Sep 08, 2015 (146)
44	ILLUMINA	ss784101187	Sep 08, 2015 (146)
45	ILLUMINA	ss832404203	Sep 08, 2015 (146)
46	ILLUMINA	ss834021359	Sep 08, 2015 (146)
47	JMKIDD_LAB	ss974491517	Aug 21, 2014 (142)
48	EVA-GONL	ss991839368	Aug 21, 2014 (142)
49	JMKIDD_LAB	ss1067553035	Aug 21, 2014 (142)
50	JMKIDD_LAB	ss1080167538	Aug 21, 2014 (142)
51	1000GENOMES	ss1353668371	Aug 21, 2014 (142)
52	1000GENOMES	ss1353668372	Aug 21, 2014 (142)
53	EVA_GENOME_DK	ss1577648508	Apr 01, 2015 (144)
54	EVA_FINRISK	ss1584094369	Apr 01, 2015 (144)
55	EVA_UK10K_ALSPAC	ss1633106409	Apr 01, 2015 (144)
56	EVA_UK10K_TWINSUK	ss1676100442	Apr 01, 2015 (144)
57	EVA_EXAC	ss1691855340	Apr 01, 2015 (144)
58	EVA_EXAC	ss1691855341	Apr 01, 2015 (144)
59	EVA_DECODE	ss1695859251	Apr 01, 2015 (144)
60	EVA_MGP	ss1711399272	Apr 01, 2015 (144)
61	EVA_SVP	ss1713493895	Apr 01, 2015 (144)
62	ILLUMINA	ss1752165652	Sep 08, 2015 (146)
63	WEILL_CORNELL_DGM	ss1935245544	Feb 12, 2016 (147)
64	ILLUMINA	ss1946395201	Feb 12, 2016 (147)
65	ILLUMINA	ss1959616671	Feb 12, 2016 (147)
66	GENOMED	ss1968121367	Jul 19, 2016 (147)
67	JJLAB	ss2028403226	Sep 14, 2016 (149)
68	USC_VALOUEV	ss2156807101	Dec 20, 2016 (150)
69	HUMAN_LONGEVITY	ss2207200767	Dec 20, 2016 (150)
70	SYSTEMSBIOZJU	ss2628696335	Nov 08, 2017 (151)
71	ILLUMINA	ss2633236179	Nov 08, 2017 (151)
72	ILLUMINA	ss2635058476	Nov 08, 2017 (151)
73	GRF	ss2701279945	Nov 08, 2017 (151)
74	ILLUMINA	ss2710817880	Nov 08, 2017 (151)
75	GNOMAD	ss2741286692	Nov 08, 2017 (151)
76	GNOMAD	ss2749316947	Nov 08, 2017 (151)
77	GNOMAD	ss2935481006	Nov 08, 2017 (151)
78	AFFY	ss2985043002	Nov 08, 2017 (151)
79	AFFY	ss2985675391	Nov 08, 2017 (151)
80	SWEGEN	ss3013365841	Nov 08, 2017 (151)
81	ILLUMINA	ss3021637821	Nov 08, 2017 (151)
82	BIOINF_KMB_FNS_UNIBA	ss3028025500	Nov 08, 2017 (151)
83	CSHL	ss3351139689	Nov 08, 2017 (151)
84	ILLUMINA	ss3625674317	Oct 12, 2018 (152)
85	ILLUMINA	ss3627373057	Oct 12, 2018 (152)
86	ILLUMINA	ss3631228474	Oct 12, 2018 (152)
87	ILLUMINA	ss3633099214	Oct 12, 2018 (152)
88	ILLUMINA	ss3633803888	Oct 12, 2018 (152)
89	ILLUMINA	ss3634609218	Oct 12, 2018 (152)
90	ILLUMINA	ss3635492759	Oct 12, 2018 (152)
91	ILLUMINA	ss3636299150	Oct 12, 2018 (152)
92	ILLUMINA	ss3637244041	Oct 12, 2018 (152)
93	ILLUMINA	ss3638088626	Oct 12, 2018 (152)
94	ILLUMINA	ss3640316539	Oct 12, 2018 (152)
95	ILLUMINA	ss3643072654	Oct 12, 2018 (152)
96	ILLUMINA	ss3644648300	Oct 12, 2018 (152)
97	OMUKHERJEE_ADBS	ss3646475282	Oct 12, 2018 (152)
98	URBANLAB	ss3650365362	Oct 12, 2018 (152)
99	ILLUMINA	ss3652038816	Oct 12, 2018 (152)
100	ILLUMINA	ss3653814851	Oct 12, 2018 (152)
101	EGCUT_WGS	ss3680510129	Jul 13, 2019 (153)
102	EVA_DECODE	ss3697991356	Jul 13, 2019 (153)
103	ILLUMINA	ss3725504006	Jul 13, 2019 (153)
104	ACPOP	ss3740968916	Jul 13, 2019 (153)
105	ILLUMINA	ss3744131854	Jul 13, 2019 (153)
106	ILLUMINA	ss3744909735	Jul 13, 2019 (153)
107	EVA	ss3753150051	Jul 13, 2019 (153)
108	PAGE_CC	ss3771833441	Jul 13, 2019 (153)
109	ILLUMINA	ss3772408389	Jul 13, 2019 (153)
110	KHV_HUMAN_GENOMES	ss3818467098	Jul 13, 2019 (153)
111	KHV_HUMAN_GENOMES	ss3818467099	Jul 13, 2019 (153)
112	EVA	ss3824924994	Apr 27, 2020 (154)
113	EVA	ss3825860253	Apr 27, 2020 (154)
114	EVA	ss3834261670	Apr 27, 2020 (154)
115	SGDP_PRJ	ss3883024576	Apr 27, 2020 (154)
116	KRGDB	ss3932202764	Apr 27, 2020 (154)
117	KOGIC	ss3976241528	Apr 27, 2020 (154)
118	FSA-LAB	ss3984074385	Apr 26, 2021 (155)
119	EVA	ss3984702176	Apr 26, 2021 (155)
120	EVA	ss3986650537	Apr 26, 2021 (155)
121	TOPMED	ss4993164241	Apr 26, 2021 (155)
122	TOMMO_GENOMICS	ss5216427211	Apr 26, 2021 (155)
123	EVA	ss5236924270	Apr 26, 2021 (155)
124	EVA	ss5237230245	Apr 26, 2021 (155)
125	EVA	ss5237664243	Oct 16, 2022 (156)
126	1000G_HIGH_COVERAGE	ss5298620180	Oct 16, 2022 (156)
127	1000G_HIGH_COVERAGE	ss5298620181	Oct 16, 2022 (156)
128	TRAN_CS_UWATERLOO	ss5314441383	Oct 16, 2022 (156)
129	EVA	ss5315788191	Oct 16, 2022 (156)
130	HUGCELL_USP	ss5492329312	Oct 16, 2022 (156)
131	1000G_HIGH_COVERAGE	ss5600113080	Oct 16, 2022 (156)
132	SANFORD_IMAGENETICS	ss5657613877	Oct 16, 2022 (156)
133	TOMMO_GENOMICS	ss5770299837	Oct 16, 2022 (156)
134	YY_MCH	ss5815380907	Oct 16, 2022 (156)
135	EVA	ss5828270987	Oct 16, 2022 (156)
136	EVA	ss5847745039	Oct 16, 2022 (156)
137	EVA	ss5848403588	Oct 16, 2022 (156)
138	EVA	ss5851315843	Oct 16, 2022 (156)
139	EVA	ss5949018463	Oct 16, 2022 (156)
140	1000Genomes	NC_000015.9 - 58860963	Oct 12, 2018 (152)
141	1000Genomes_30x	NC_000015.10 - 58568764	Oct 16, 2022 (156)
142	The Avon Longitudinal Study of Parents and Children	NC_000015.9 - 58860963	Oct 12, 2018 (152)
143	Genetic variation in the Estonian population	NC_000015.9 - 58860963	Oct 12, 2018 (152)
144	ExAC Submission ignored due to conflicting rows: Row 2231203 (NC_000015.9:58860962:C:C 95281/118030, NC_000015.9:58860962:C:A 22749/118030) Row 2231204 (NC_000015.9:58860962:C:C 118027/118030, NC_000015.9:58860962:C:G 3/118030)	-	Oct 12, 2018 (152)
145	ExAC Submission ignored due to conflicting rows: Row 2231203 (NC_000015.9:58860962:C:C 95281/118030, NC_000015.9:58860962:C:A 22749/118030) Row 2231204 (NC_000015.9:58860962:C:C 118027/118030, NC_000015.9:58860962:C:G 3/118030)	-	Oct 12, 2018 (152)
146	FINRISK	NC_000015.9 - 58860963	Apr 27, 2020 (154)
147	The Danish reference pan genome	NC_000015.9 - 58860963	Apr 27, 2020 (154)
148	gnomAD - Genomes Submission ignored due to conflicting rows: Row 470542316 (NC_000015.10:58568763:C:A 19322/140022) Row 470542317 (NC_000015.10:58568763:C:G 14/140052)	-	Apr 26, 2021 (155)
149	gnomAD - Genomes Submission ignored due to conflicting rows: Row 470542316 (NC_000015.10:58568763:C:A 19322/140022) Row 470542317 (NC_000015.10:58568763:C:G 14/140052)	-	Apr 26, 2021 (155)
150	gnomAD - Exomes Submission ignored due to conflicting rows: Row 10553897 (NC_000015.9:58860962:C:C 201785/250016, NC_000015.9:58860962:C:A 48231/250016) Row 10553898 (NC_000015.9:58860962:C:C 250009/250016, NC_000015.9:58860962:C:G 7/250016)	-	Jul 13, 2019 (153)
151	gnomAD - Exomes Submission ignored due to conflicting rows: Row 10553897 (NC_000015.9:58860962:C:C 201785/250016, NC_000015.9:58860962:C:A 48231/250016) Row 10553898 (NC_000015.9:58860962:C:C 250009/250016, NC_000015.9:58860962:C:G 7/250016)	-	Jul 13, 2019 (153)
152	GO Exome Sequencing Project	NC_000015.9 - 58860963	Oct 12, 2018 (152)
153	Genome of the Netherlands Release 5	NC_000015.9 - 58860963	Apr 27, 2020 (154)
154	HapMap	NC_000015.10 - 58568764	Apr 27, 2020 (154)
155	KOREAN population from KRGDB	NC_000015.9 - 58860963	Apr 27, 2020 (154)
156	Korean Genome Project	NC_000015.10 - 58568764	Apr 27, 2020 (154)
157	Medical Genome Project healthy controls from Spanish population	NC_000015.9 - 58860963	Apr 27, 2020 (154)
158	Northern Sweden	NC_000015.9 - 58860963	Jul 13, 2019 (153)
159	The PAGE Study	NC_000015.10 - 58568764	Jul 13, 2019 (153)
160	CNV burdens in cranial meningiomas	NC_000015.9 - 58860963	Apr 26, 2021 (155)
161	Qatari	NC_000015.9 - 58860963	Apr 27, 2020 (154)
162	SGDP_PRJ	NC_000015.9 - 58860963	Apr 27, 2020 (154)
163	Siberian	NC_000015.9 - 58860963	Apr 27, 2020 (154)
164	8.3KJPN	NC_000015.9 - 58860963	Apr 26, 2021 (155)
165	14KJPN	NC_000015.10 - 58568764	Oct 16, 2022 (156)
166	TopMed	NC_000015.10 - 58568764	Apr 26, 2021 (155)
167	UK 10K study - Twins	NC_000015.9 - 58860963	Oct 12, 2018 (152)
168	A Vietnamese Genetic Variation Database	NC_000015.9 - 58860963	Jul 13, 2019 (153)
169	ALFA	NC_000015.10 - 58568764	Apr 26, 2021 (155)
170	ClinVar	RCV000354550.3	Oct 16, 2022 (156)
171	ClinVar	RCV000901560.3	Oct 16, 2022 (156)
172	ClinVar	RCV001672514.5	Oct 16, 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)
rs11878	Jan 04, 2002 (102)
rs3184048	Oct 08, 2002 (108)
rs17236104	Oct 08, 2004 (123)
rs57015707	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss84451111, ss90174156, ss108858698, ss168107143, ss200904354, ss207238295, ss282277173, ss291730827, ss481207728, ss491701652, ss1695859251, ss1713493895, ss2635058476, ss3643072654	NC_000015.8:56648254:C:A	NC_000015.10:58568763:C:A	(self)
66747416, 37055369, 26248377, 90830, 3878837, 1382264, 16546484, 39380158, 515032, 14253781, 251698, 17287474, 35041556, 9323455, 74396518, 37055369, 8245788, ss226919534, ss236798034, ss243181860, ss342404823, ss481230977, ss482218067, ss485399159, ss491084619, ss537336257, ss564511692, ss660241880, ss778564409, ss783145078, ss784101187, ss832404203, ss834021359, ss974491517, ss991839368, ss1067553035, ss1080167538, ss1353668371, ss1577648508, ss1584094369, ss1633106409, ss1676100442, ss1691855340, ss1711399272, ss1752165652, ss1935245544, ss1946395201, ss1959616671, ss1968121367, ss2028403226, ss2156807101, ss2628696335, ss2633236179, ss2701279945, ss2710817880, ss2741286692, ss2749316947, ss2935481006, ss2985043002, ss2985675391, ss3013365841, ss3021637821, ss3351139689, ss3625674317, ss3627373057, ss3631228474, ss3633099214, ss3633803888, ss3634609218, ss3635492759, ss3636299150, ss3637244041, ss3638088626, ss3640316539, ss3644648300, ss3646475282, ss3652038816, ss3653814851, ss3680510129, ss3740968916, ss3744131854, ss3744909735, ss3753150051, ss3772408389, ss3824924994, ss3825860253, ss3834261670, ss3883024576, ss3932202764, ss3984074385, ss3984702176, ss3986650537, ss5216427211, ss5315788191, ss5657613877, ss5828270987, ss5847745039, ss5848403588, ss5949018463	NC_000015.9:58860962:C:A	NC_000015.10:58568763:C:A	(self)
RCV000354550.3, RCV001672514.5, 87639015, 1274512, 32619529, 1054910, 104136941, 208709901, 11757332639, ss2207200767, ss3028025500, ss3650365362, ss3697991356, ss3725504006, ss3771833441, ss3818467098, ss3976241528, ss4993164241, ss5236924270, ss5237230245, ss5237664243, ss5298620180, ss5314441383, ss5492329312, ss5600113080, ss5770299837, ss5815380907, ss5851315843	NC_000015.10:58568763:C:A	NC_000015.10:58568763:C:A	(self)
ss7691, ss1513360, ss3250139, ss4406609, ss16232782, ss24224746, ss43724224, ss48295381, ss65735037, ss74992680, ss86241216, ss96815031, ss103243711, ss119337759, ss136370902, ss144159735, ss156603813, ss159730813, ss160762767, ss173975341	NT_010194.17:29651519:C:A	NC_000015.10:58568763:C:A	(self)
66747416, ss1353668372, ss1691855341, ss2741286692, ss2749316947, ss2935481006	NC_000015.9:58860962:C:G	NC_000015.10:58568763:C:G	(self)
RCV000901560.3, 87639015, 11757332639, ss2207200767, ss3818467099, ss5298620181, ss5600113080	NC_000015.10:58568763:C:G	NC_000015.10:58568763:C:G	(self)

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

4 citations for rs6074

PMID	Title	Author	Year	Journal
19734193	Polymorphisms in the hepatic lipase gene affect plasma HDL-cholesterol levels in a Turkish population.	Hodoglugil U et al.	2010	Journal of lipid research
22229114	Common Variants in 6 Lipid-Related Genes Discovered by High-Resolution DNA Melting Analysis and Their Association with Plasma Lipids.	Carlquist JF et al.	2011	Journal of clinical & experimental cardiology
23550552	Association of hepatic lipase gene polymorphisms with hypertriglyceridemia and low high-density lipoprotein-cholesterol levels among South Indian subjects without diabetes.	Ayyappa KA et al.	2013	Diabetes technology & therapeutics
33326441	Hepatic lipase (LIPC) sequencing in individuals with extremely high and low high-density lipoprotein cholesterol levels.	Pirim D et al.	2020	PloS one

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

rs6074