Name: rs5930
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.

rs5930

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:11113589 (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>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.389372 (130182/334338, ALFA)
A=0.336832 (89156/264690, TOPMED)
A=0.367974 (92388/251072, GnomAD_exome) (+ 26 more)
A=0.341218 (47761/139972, GnomAD)
A=0.373392 (45235/121146, ExAC)
A=0.39765 (11236/28256, 14KJPN)
A=0.39845 (6678/16760, 8.3KJPN)
A=0.34338 (4466/13006, GO-ESP)
A=0.3420 (2190/6404, 1000G_30x)
A=0.3450 (1728/5008, 1000G)
A=0.4161 (1864/4480, Estonian)
A=0.3851 (1484/3854, ALSPAC)
A=0.3900 (1446/3708, TWINSUK)
A=0.3805 (1115/2930, KOREAN)
A=0.3565 (743/2084, HGDP_Stanford)
A=0.3466 (651/1878, HapMap)
A=0.3925 (719/1832, Korea1K)
A=0.3469 (358/1032, PharmGKB)
A=0.389 (388/998, GoNL)
A=0.375 (291/776, PRJEB37584)
A=0.412 (252/612, Vietnamese)
A=0.423 (254/600, NorthernSweden)
G=0.431 (230/534, MGP)
A=0.261 (121/464, SGDP_PRJ)
A=0.401 (122/304, FINRISK)
A=0.324 (70/216, Qatari)
G=0.45 (30/66, Ancient Sardinia)
G=0.47 (19/40, GENOME_DK)
A=0.29 (10/34, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: LDLR : Missense Variant
MIR6886 : 500B Downstream Variant
Publications: 13 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	355428	A=0.386908	G=0.613092
European	Sub	303416	A=0.396558	G=0.603442
African	Sub	17064	A=0.25985	G=0.74015
African Others	Sub	644	A=0.247	G=0.753
African American	Sub	16420	A=0.26035	G=0.73965
Asian	Sub	3918	A=0.3982	G=0.6018
East Asian	Sub	3154	A=0.3805	G=0.6195
Other Asian	Sub	764	A=0.471	G=0.529
Latin American 1	Sub	1476	A=0.3855	G=0.6145
Latin American 2	Sub	7218	A=0.2998	G=0.7002
South Asian	Sub	5214	A=0.3936	G=0.6064
Other	Sub	17122	A=0.37478	G=0.62522

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	334338	A=0.389372	G=0.610628
Allele Frequency Aggregator	European	Sub	290500	A=0.396661	G=0.603339
Allele Frequency Aggregator	Other	Sub	14902	A=0.37847	G=0.62153
Allele Frequency Aggregator	African	Sub	11110	A=0.26706	G=0.73294
Allele Frequency Aggregator	Latin American 2	Sub	7218	A=0.2998	G=0.7002
Allele Frequency Aggregator	South Asian	Sub	5214	A=0.3936	G=0.6064
Allele Frequency Aggregator	Asian	Sub	3918	A=0.3982	G=0.6018
Allele Frequency Aggregator	Latin American 1	Sub	1476	A=0.3855	G=0.6145
TopMed	Global	Study-wide	264690	A=0.336832	G=0.663168
gnomAD - Exomes	Global	Study-wide	251072	A=0.367974	G=0.632026
gnomAD - Exomes	European	Sub	135090	A=0.393264	G=0.606736
gnomAD - Exomes	Asian	Sub	48990	A=0.39026	G=0.60974
gnomAD - Exomes	American	Sub	34556	A=0.28776	G=0.71224
gnomAD - Exomes	African	Sub	16240	A=0.25259	G=0.74741
gnomAD - Exomes	Ashkenazi Jewish	Sub	10068	A=0.36949	G=0.63051
gnomAD - Exomes	Other	Sub	6128	A=0.3879	G=0.6121
gnomAD - Genomes	Global	Study-wide	139972	A=0.341218	G=0.658782
gnomAD - Genomes	European	Sub	75808	A=0.39243	G=0.60757
gnomAD - Genomes	African	Sub	41956	A=0.25284	G=0.74716
gnomAD - Genomes	American	Sub	13624	A=0.30593	G=0.69407
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	A=0.3844	G=0.6156
gnomAD - Genomes	East Asian	Sub	3118	A=0.3784	G=0.6216
gnomAD - Genomes	Other	Sub	2144	A=0.3633	G=0.6367
ExAC	Global	Study-wide	121146	A=0.373392	G=0.626608
ExAC	Europe	Sub	73176	A=0.39630	G=0.60370
ExAC	Asian	Sub	25128	A=0.39064	G=0.60936
ExAC	American	Sub	11548	A=0.29009	G=0.70991
ExAC	African	Sub	10390	A=0.26035	G=0.73965
ExAC	Other	Sub	904	A=0.403	G=0.597
14KJPN	JAPANESE	Study-wide	28256	A=0.39765	G=0.60235
8.3KJPN	JAPANESE	Study-wide	16760	A=0.39845	G=0.60155
GO Exome Sequencing Project	Global	Study-wide	13006	A=0.34338	G=0.65662
GO Exome Sequencing Project	European American	Sub	8600	A=0.3838	G=0.6162
GO Exome Sequencing Project	African American	Sub	4406	A=0.2644	G=0.7356
1000Genomes_30x	Global	Study-wide	6404	A=0.3420	G=0.6580
1000Genomes_30x	African	Sub	1786	A=0.2452	G=0.7548
1000Genomes_30x	Europe	Sub	1266	A=0.4218	G=0.5782
1000Genomes_30x	South Asian	Sub	1202	A=0.3794	G=0.6206
1000Genomes_30x	East Asian	Sub	1170	A=0.4000	G=0.6000
1000Genomes_30x	American	Sub	980	A=0.300	G=0.700
1000Genomes	Global	Study-wide	5008	A=0.3450	G=0.6550
1000Genomes	African	Sub	1322	A=0.2496	G=0.7504
1000Genomes	East Asian	Sub	1008	A=0.4048	G=0.5952
1000Genomes	Europe	Sub	1006	A=0.4215	G=0.5785
1000Genomes	South Asian	Sub	978	A=0.376	G=0.624
1000Genomes	American	Sub	694	A=0.285	G=0.715
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.4161	G=0.5839
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.3851	G=0.6149
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.3900	G=0.6100
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.3805	G=0.6195, T=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	A=0.3565	G=0.6435
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.400	G=0.600
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.384	G=0.616
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.354	G=0.646
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.384	G=0.616
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.194	G=0.806
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.296	G=0.704
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.53	G=0.47
HapMap	Global	Study-wide	1878	A=0.3466	G=0.6534
HapMap	American	Sub	766	A=0.347	G=0.653
HapMap	African	Sub	686	A=0.294	G=0.706
HapMap	Asian	Sub	252	A=0.425	G=0.575
HapMap	Europe	Sub	174	A=0.437	G=0.563
Korean Genome Project	KOREAN	Study-wide	1832	A=0.3925	G=0.6075
PharmGKB Aggregated	Global	Study-wide	1032	A=0.3469	G=0.6531
PharmGKB Aggregated	PA141343195	Sub	946	A=0.352	G=0.648
PharmGKB Aggregated	PA151891006	Sub	86	A=0.29	G=0.71
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.389	G=0.611
CNV burdens in cranial meningiomas	Global	Study-wide	776	A=0.375	G=0.625
CNV burdens in cranial meningiomas	CRM	Sub	776	A=0.375	G=0.625
A Vietnamese Genetic Variation Database	Global	Study-wide	612	A=0.412	G=0.588
Northern Sweden	ACPOP	Study-wide	600	A=0.423	G=0.577
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	A=0.569	G=0.431
SGDP_PRJ	Global	Study-wide	464	A=0.261	G=0.739
FINRISK	Finnish from FINRISK project	Study-wide	304	A=0.401	G=0.599
Qatari	Global	Study-wide	216	A=0.324	G=0.676
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	66	A=0.55	G=0.45
The Danish reference pan genome	Danish	Study-wide	40	A=0.53	G=0.47
Siberian	Global	Study-wide	34	A=0.29	G=0.71

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.11113589A>G
GRCh38.p14 chr 19	NC_000019.10:g.11113589A>T
GRCh37.p13 chr 19	NC_000019.9:g.11224265A>G
GRCh37.p13 chr 19	NC_000019.9:g.11224265A>T
LDLR RefSeqGene (LRG_274)	NG_009060.1:g.29209A>G
LDLR RefSeqGene (LRG_274)	NG_009060.1:g.29209A>T

Gene: LDLR, low density lipoprotein receptor (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LDLR transcript variant 4	NM_001195800.2:c.909A>G	R [AGA] > R [AGG]	Coding Sequence Variant
low-density lipoprotein receptor isoform 4 precursor	NP_001182729.1:p.Arg303=	R (Arg) > R (Arg)	Synonymous Variant
LDLR transcript variant 4	NM_001195800.2:c.909A>T	R [AGA] > S [AGT]	Coding Sequence Variant
low-density lipoprotein receptor isoform 4 precursor	NP_001182729.1:p.Arg303Ser	R (Arg) > S (Ser)	Missense Variant
LDLR transcript variant 6	NM_001195803.2:c.1032A>G	R [AGA] > R [AGG]	Coding Sequence Variant
low-density lipoprotein receptor isoform 6 precursor	NP_001182732.1:p.Arg344=	R (Arg) > R (Arg)	Synonymous Variant
LDLR transcript variant 6	NM_001195803.2:c.1032A>T	R [AGA] > S [AGT]	Coding Sequence Variant
low-density lipoprotein receptor isoform 6 precursor	NP_001182732.1:p.Arg344Ser	R (Arg) > S (Ser)	Missense Variant
LDLR transcript variant 2	NM_001195798.2:c.1413A>G	R [AGA] > R [AGG]	Coding Sequence Variant
low-density lipoprotein receptor isoform 2 precursor	NP_001182727.1:p.Arg471=	R (Arg) > R (Arg)	Synonymous Variant
LDLR transcript variant 2	NM_001195798.2:c.1413A>T	R [AGA] > S [AGT]	Coding Sequence Variant
low-density lipoprotein receptor isoform 2 precursor	NP_001182727.1:p.Arg471Ser	R (Arg) > S (Ser)	Missense Variant
LDLR transcript variant 3	NM_001195799.2:c.1290A>G	R [AGA] > R [AGG]	Coding Sequence Variant
low-density lipoprotein receptor isoform 3 precursor	NP_001182728.1:p.Arg430=	R (Arg) > R (Arg)	Synonymous Variant
LDLR transcript variant 3	NM_001195799.2:c.1290A>T	R [AGA] > S [AGT]	Coding Sequence Variant
low-density lipoprotein receptor isoform 3 precursor	NP_001182728.1:p.Arg430Ser	R (Arg) > S (Ser)	Missense Variant
LDLR transcript variant 1	NM_000527.5:c.1413A>G	R [AGA] > R [AGG]	Coding Sequence Variant
low-density lipoprotein receptor isoform 1 precursor	NP_000518.1:p.Arg471=	R (Arg) > R (Arg)	Synonymous Variant
LDLR transcript variant 1	NM_000527.5:c.1413A>T	R [AGA] > S [AGT]	Coding Sequence Variant
low-density lipoprotein receptor isoform 1 precursor	NP_000518.1:p.Arg471Ser	R (Arg) > S (Ser)	Missense Variant
LDLR transcript variant X1	XM_011528010.3:c.1413A>G	R [AGA] > R [AGG]	Coding Sequence Variant
low-density lipoprotein receptor isoform X1	XP_011526312.1:p.Arg471=	R (Arg) > R (Arg)	Synonymous Variant
LDLR transcript variant X1	XM_011528010.3:c.1413A>T	R [AGA] > S [AGT]	Coding Sequence Variant
low-density lipoprotein receptor isoform X1	XP_011526312.1:p.Arg471Ser	R (Arg) > S (Ser)	Missense Variant
LDLR transcript variant X2	XM_047438831.1:c.1413A>G	R [AGA] > R [AGG]	Coding Sequence Variant
low-density lipoprotein receptor isoform X2	XP_047294787.1:p.Arg471=	R (Arg) > R (Arg)	Synonymous Variant
LDLR transcript variant X2	XM_047438831.1:c.1413A>T	R [AGA] > S [AGT]	Coding Sequence Variant
low-density lipoprotein receptor isoform X2	XP_047294787.1:p.Arg471Ser	R (Arg) > S (Ser)	Missense Variant

Gene: MIR6886, microRNA 6886 (plus strand) : 500B Downstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
MIR6886 transcript	NR_106946.1:n.	N/A	Downstream 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.

Allele: G (allele ID: 198014 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000182337.10	not specified	Benign
RCV000237328.12	Hypercholesterolemia, familial, 1	Benign
RCV001275279.6	Familial hypercholesterolemia	Benign
RCV001812170.4	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	A=	G	T
GRCh38.p14 chr 19	NC_000019.10:g.11113589=	NC_000019.10:g.11113589A>G	NC_000019.10:g.11113589A>T
GRCh37.p13 chr 19	NC_000019.9:g.11224265=	NC_000019.9:g.11224265A>G	NC_000019.9:g.11224265A>T
LDLR RefSeqGene (LRG_274)	NG_009060.1:g.29209=	NG_009060.1:g.29209A>G	NG_009060.1:g.29209A>T
LDLR transcript variant 1	NM_000527.5:c.1413=	NM_000527.5:c.1413A>G	NM_000527.5:c.1413A>T
LDLR transcript variant 1	NM_000527.4:c.1413=	NM_000527.4:c.1413A>G	NM_000527.4:c.1413A>T
LDLR transcript variant 2	NM_001195798.2:c.1413=	NM_001195798.2:c.1413A>G	NM_001195798.2:c.1413A>T
LDLR transcript variant 2	NM_001195798.1:c.1413=	NM_001195798.1:c.1413A>G	NM_001195798.1:c.1413A>T
LDLR transcript variant 3	NM_001195799.2:c.1290=	NM_001195799.2:c.1290A>G	NM_001195799.2:c.1290A>T
LDLR transcript variant 3	NM_001195799.1:c.1290=	NM_001195799.1:c.1290A>G	NM_001195799.1:c.1290A>T
LDLR transcript variant 4	NM_001195800.2:c.909=	NM_001195800.2:c.909A>G	NM_001195800.2:c.909A>T
LDLR transcript variant 4	NM_001195800.1:c.909=	NM_001195800.1:c.909A>G	NM_001195800.1:c.909A>T
LDLR transcript variant 6	NM_001195803.2:c.1032=	NM_001195803.2:c.1032A>G	NM_001195803.2:c.1032A>T
LDLR transcript variant 6	NM_001195803.1:c.1032=	NM_001195803.1:c.1032A>G	NM_001195803.1:c.1032A>T
LDLR transcript variant X1	XM_011528010.3:c.1413=	XM_011528010.3:c.1413A>G	XM_011528010.3:c.1413A>T
LDLR transcript variant X1	XM_011528010.2:c.1413=	XM_011528010.2:c.1413A>G	XM_011528010.2:c.1413A>T
LDLR transcript variant X1	XM_011528010.1:c.1413=	XM_011528010.1:c.1413A>G	XM_011528010.1:c.1413A>T
LDLR transcript variant 5	NM_001195802.1:c.1050=	NM_001195802.1:c.1050A>G	NM_001195802.1:c.1050A>T
LDLR transcript variant X2	XM_047438831.1:c.1413=	XM_047438831.1:c.1413A>G	XM_047438831.1:c.1413A>T
low-density lipoprotein receptor isoform 1 precursor	NP_000518.1:p.Arg471=	NP_000518.1:p.Arg471=	NP_000518.1:p.Arg471Ser
low-density lipoprotein receptor isoform 2 precursor	NP_001182727.1:p.Arg471=	NP_001182727.1:p.Arg471=	NP_001182727.1:p.Arg471Ser
low-density lipoprotein receptor isoform 3 precursor	NP_001182728.1:p.Arg430=	NP_001182728.1:p.Arg430=	NP_001182728.1:p.Arg430Ser
low-density lipoprotein receptor isoform 4 precursor	NP_001182729.1:p.Arg303=	NP_001182729.1:p.Arg303=	NP_001182729.1:p.Arg303Ser
low-density lipoprotein receptor isoform 6 precursor	NP_001182732.1:p.Arg344=	NP_001182732.1:p.Arg344=	NP_001182732.1:p.Arg344Ser
low-density lipoprotein receptor isoform X1	XP_011526312.1:p.Arg471=	XP_011526312.1:p.Arg471=	XP_011526312.1:p.Arg471Ser
low-density lipoprotein receptor isoform X2	XP_047294787.1:p.Arg471=	XP_047294787.1:p.Arg471=	XP_047294787.1:p.Arg471Ser

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#.

182 SubSNP, 29 Frequency, 4 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	WIAF-CSNP	ss7535	Sep 19, 2000 (52)
2	TSC-CSHL	ss1466214	Oct 05, 2000 (92)
3	YUSUKE	ss3230225	Sep 28, 2001 (100)
4	SC_JCM	ss3608180	Sep 28, 2001 (100)
5	SC_JCM	ss5781718	Feb 20, 2003 (111)
6	SNP500CANCER	ss8819812	Jul 02, 2003 (116)
7	WI_SSAHASNP	ss12465277	Jul 11, 2003 (116)
8	CGAP-GAI	ss16246430	Feb 27, 2004 (120)
9	SSAHASNP	ss21519728	Apr 05, 2004 (121)
10	IMCJ-GDT	ss22887417	Apr 05, 2004 (121)
11	PARC	ss23144314	Sep 20, 2004 (126)
12	PERLEGEN	ss24191698	Sep 20, 2004 (123)
13	MGC_GENOME_DIFF	ss28505479	Sep 24, 2004 (126)
14	ABI	ss40963431	Mar 11, 2006 (126)
15	SI_EXO	ss61710113	Oct 16, 2006 (127)
16	ILLUMINA	ss66686406	Dec 01, 2006 (127)
17	ILLUMINA	ss67426675	Dec 01, 2006 (127)
18	ILLUMINA	ss67785000	Dec 01, 2006 (127)
19	PHARMGKB_PARC	ss69368059	May 17, 2007 (127)
20	ILLUMINA	ss70850235	May 23, 2008 (130)
21	ILLUMINA	ss71435433	May 17, 2007 (127)
22	ILLUMINA	ss75576109	Dec 06, 2007 (129)
23	CGM_KYOTO	ss76876891	Dec 06, 2007 (129)
24	ILLUMINA	ss79211736	Dec 14, 2007 (130)
25	HGSV	ss81737202	Dec 14, 2007 (130)
26	KRIBB_YJKIM	ss83346976	Dec 14, 2007 (130)
27	PHARMGKB_PARC	ss84140373	Dec 14, 2007 (130)
28	HUMANGENOME_JCVI	ss96253364	Feb 03, 2009 (130)
29	BGI	ss103423559	Dec 01, 2009 (131)
30	RSG_UW	ss107937041	Feb 03, 2009 (130)
31	1000GENOMES	ss111083019	Jan 25, 2009 (130)
32	1000GENOMES	ss114837911	Jan 25, 2009 (130)
33	ILLUMINA	ss122486095	Dec 01, 2009 (131)
34	ENSEMBL	ss136324883	Dec 01, 2009 (131)
35	ILLUMINA	ss154344440	Dec 01, 2009 (131)
36	GMI	ss155618571	Dec 01, 2009 (131)
37	ILLUMINA	ss159520941	Dec 01, 2009 (131)
38	SEATTLESEQ	ss159738592	Dec 01, 2009 (131)
39	ILLUMINA	ss160750784	Dec 01, 2009 (131)
40	COMPLETE_GENOMICS	ss169076907	Jul 04, 2010 (132)
41	COMPLETE_GENOMICS	ss171497488	Jul 04, 2010 (132)
42	ILLUMINA	ss172059639	Jul 04, 2010 (132)
43	ILLUMINA	ss173942060	Jul 04, 2010 (132)
44	BUSHMAN	ss203663559	Jul 04, 2010 (132)
45	BCM-HGSC-SUB	ss208503602	Jul 04, 2010 (132)
46	1000GENOMES	ss228042620	Jul 14, 2010 (132)
47	1000GENOMES	ss237603646	Jul 15, 2010 (132)
48	1000GENOMES	ss243825543	Jul 15, 2010 (132)
49	ILLUMINA	ss244303783	Jul 04, 2010 (132)
50	BL	ss255492403	May 09, 2011 (134)
51	GMI	ss283125579	May 04, 2012 (137)
52	GMI	ss287345827	Apr 25, 2013 (138)
53	PJP	ss292212625	May 09, 2011 (134)
54	NHLBI-ESP	ss342486205	May 09, 2011 (134)
55	ILLUMINA	ss410939364	Sep 17, 2011 (135)
56	ILLUMINA	ss481172105	May 04, 2012 (137)
57	ILLUMINA	ss481194807	May 04, 2012 (137)
58	ILLUMINA	ss482182237	Sep 08, 2015 (146)
59	ILLUMINA	ss485381277	May 04, 2012 (137)
60	1000GENOMES	ss491149932	May 04, 2012 (137)
61	CLINSEQ_SNP	ss491758583	May 04, 2012 (137)
62	ILLUMINA	ss537320759	Sep 08, 2015 (146)
63	TISHKOFF	ss565856169	Apr 25, 2013 (138)
64	SSMP	ss661712457	Apr 25, 2013 (138)
65	ILLUMINA	ss778560617	Aug 21, 2014 (142)
66	ILLUMINA	ss783136196	Aug 21, 2014 (142)
67	ILLUMINA	ss784092557	Aug 21, 2014 (142)
68	ILLUMINA	ss825542254	Jul 19, 2016 (147)
69	ILLUMINA	ss832395198	Apr 01, 2015 (144)
70	ILLUMINA	ss833032224	Aug 21, 2014 (142)
71	ILLUMINA	ss833623052	Aug 21, 2014 (142)
72	ILLUMINA	ss834017502	Aug 21, 2014 (142)
73	JMKIDD_LAB	ss974504327	Aug 21, 2014 (142)
74	EVA-GONL	ss994092201	Aug 21, 2014 (142)
75	JMKIDD_LAB	ss1067584714	Aug 21, 2014 (142)
76	JMKIDD_LAB	ss1081761206	Aug 21, 2014 (142)
77	1000GENOMES	ss1362372265	Aug 21, 2014 (142)
78	DDI	ss1428337362	Apr 01, 2015 (144)
79	EVA_GENOME_DK	ss1578557806	Apr 01, 2015 (144)
80	EVA_FINRISK	ss1584114521	Apr 01, 2015 (144)
81	EVA_UK10K_ALSPAC	ss1637574346	Apr 01, 2015 (144)
82	EVA_UK10K_TWINSUK	ss1680568379	Apr 01, 2015 (144)
83	EVA_EXAC	ss1693378319	Apr 01, 2015 (144)
84	EVA_DECODE	ss1698152458	Apr 01, 2015 (144)
85	EVA_MGP	ss1711499226	Apr 01, 2015 (144)
86	EVA_SVP	ss1713651050	Apr 01, 2015 (144)
87	ILLUMINA	ss1752272555	Sep 08, 2015 (146)
88	HAMMER_LAB	ss1809210128	Sep 08, 2015 (146)
89	WEILL_CORNELL_DGM	ss1937576553	Feb 12, 2016 (147)
90	ILLUMINA	ss1946527839	Feb 12, 2016 (147)
91	ILLUMINA	ss1959841090	Feb 12, 2016 (147)
92	GENOMED	ss1968605391	Jul 19, 2016 (147)
93	JJLAB	ss2029561218	Sep 14, 2016 (149)
94	ILLUMINA	ss2095083480	Dec 20, 2016 (150)
95	USC_VALOUEV	ss2158084345	Dec 20, 2016 (150)
96	HUMAN_LONGEVITY	ss2224329933	Dec 20, 2016 (150)
97	SYSTEMSBIOZJU	ss2629279752	Nov 08, 2017 (151)
98	ILLUMINA	ss2633518719	Nov 08, 2017 (151)
99	ILLUMINA	ss2635081456	Nov 08, 2017 (151)
100	GRF	ss2702688420	Nov 08, 2017 (151)
101	ILLUMINA	ss2710876368	Nov 08, 2017 (151)
102	GNOMAD	ss2743645114	Nov 08, 2017 (151)
103	GNOMAD	ss2750076145	Nov 08, 2017 (151)
104	GNOMAD	ss2960522642	Nov 08, 2017 (151)
105	SWEGEN	ss3017108343	Nov 08, 2017 (151)
106	ILLUMINA	ss3021881577	Nov 08, 2017 (151)
107	EVA_SAMSUNG_MC	ss3023071730	Nov 08, 2017 (151)
108	BIOINF_KMB_FNS_UNIBA	ss3028613633	Nov 08, 2017 (151)
109	CSHL	ss3352200682	Nov 08, 2017 (151)
110	ILLUMINA	ss3625736020	Oct 12, 2018 (152)
111	ILLUMINA	ss3627890617	Oct 12, 2018 (152)
112	ILLUMINA	ss3631491859	Oct 12, 2018 (152)
113	ILLUMINA	ss3633884404	Oct 12, 2018 (152)
114	ILLUMINA	ss3634724389	Oct 12, 2018 (152)
115	ILLUMINA	ss3635571387	Oct 12, 2018 (152)
116	ILLUMINA	ss3636413277	Oct 12, 2018 (152)
117	ILLUMINA	ss3637323083	Oct 12, 2018 (152)
118	ILLUMINA	ss3638216188	Oct 12, 2018 (152)
119	ILLUMINA	ss3639115945	Oct 12, 2018 (152)
120	ILLUMINA	ss3639568151	Oct 12, 2018 (152)
121	ILLUMINA	ss3640431697	Oct 12, 2018 (152)
122	ILLUMINA	ss3643190185	Oct 12, 2018 (152)
123	ILLUMINA	ss3644716428	Oct 12, 2018 (152)
124	OMUKHERJEE_ADBS	ss3646530214	Oct 12, 2018 (152)
125	URBANLAB	ss3650868992	Oct 12, 2018 (152)
126	ILLUMINA	ss3652306218	Oct 12, 2018 (152)
127	EGCUT_WGS	ss3683939739	Jul 13, 2019 (153)
128	EVA_DECODE	ss3702355421	Jul 13, 2019 (153)
129	ACPOP	ss3742859395	Jul 13, 2019 (153)
130	ILLUMINA	ss3744163854	Jul 13, 2019 (153)
131	ILLUMINA	ss3745024445	Jul 13, 2019 (153)
132	EVA	ss3755817614	Jul 13, 2019 (153)
133	ILLUMINA	ss3772521748	Jul 13, 2019 (153)
134	PACBIO	ss3788470050	Jul 13, 2019 (153)
135	PACBIO	ss3793389792	Jul 13, 2019 (153)
136	PACBIO	ss3798276451	Jul 13, 2019 (153)
137	KHV_HUMAN_GENOMES	ss3821072382	Jul 13, 2019 (153)
138	EVA	ss3825242256	Apr 27, 2020 (154)
139	EVA	ss3825532513	Apr 27, 2020 (154)
140	EVA	ss3825547078	Apr 27, 2020 (154)
141	EVA	ss3825926967	Apr 27, 2020 (154)
142	EVA	ss3835354256	Apr 27, 2020 (154)
143	EVA	ss3841298567	Apr 27, 2020 (154)
144	EVA	ss3846803066	Apr 27, 2020 (154)
145	HGDP	ss3847595036	Apr 27, 2020 (154)
146	SGDP_PRJ	ss3887777571	Apr 27, 2020 (154)
147	KRGDB	ss3937750314	Apr 27, 2020 (154)
148	KOGIC	ss3980850739	Apr 27, 2020 (154)
149	FSA-LAB	ss3984144806	Apr 27, 2021 (155)
150	EVA	ss3984738844	Apr 27, 2021 (155)
151	EVA	ss3985846165	Apr 27, 2021 (155)
152	EVA	ss3986079376	Apr 27, 2021 (155)
153	EVA	ss3986779722	Apr 27, 2021 (155)
154	EVA	ss4017815765	Apr 27, 2021 (155)
155	TOPMED	ss5068135669	Apr 27, 2021 (155)
156	TOMMO_GENOMICS	ss5226769913	Apr 27, 2021 (155)
157	EVA	ss5236956078	Apr 27, 2021 (155)
158	EVA	ss5237671750	Oct 16, 2022 (156)
159	1000G_HIGH_COVERAGE	ss5306514144	Oct 16, 2022 (156)
160	TRAN_CS_UWATERLOO	ss5314452078	Oct 16, 2022 (156)
161	EVA	ss5433601176	Oct 16, 2022 (156)
162	HUGCELL_USP	ss5499140321	Oct 16, 2022 (156)
163	EVA	ss5512040679	Oct 16, 2022 (156)
164	1000G_HIGH_COVERAGE	ss5611920650	Oct 16, 2022 (156)
165	EVA	ss5623976315	Oct 16, 2022 (156)
166	EVA	ss5624086041	Oct 16, 2022 (156)
167	SANFORD_IMAGENETICS	ss5661987070	Oct 16, 2022 (156)
168	TOMMO_GENOMICS	ss5785059702	Oct 16, 2022 (156)
169	EVA	ss5800004028	Oct 16, 2022 (156)
170	EVA	ss5800072943	Oct 16, 2022 (156)
171	EVA	ss5800219409	Oct 16, 2022 (156)
172	YY_MCH	ss5817412409	Oct 16, 2022 (156)
173	EVA	ss5840262104	Oct 16, 2022 (156)
174	EVA	ss5847835732	Oct 16, 2022 (156)
175	EVA	ss5848481983	Oct 16, 2022 (156)
176	EVA	ss5852206903	Oct 16, 2022 (156)
177	EVA	ss5927318354	Oct 16, 2022 (156)
178	EVA	ss5936572335	Oct 16, 2022 (156)
179	EVA	ss5953408910	Oct 16, 2022 (156)
180	EVA	ss5979539997	Oct 16, 2022 (156)
181	EVA	ss5981032526	Oct 16, 2022 (156)
182	EVA	ss5981309439	Oct 16, 2022 (156)
183	1000Genomes	NC_000019.9 - 11224265	Oct 12, 2018 (152)
184	1000Genomes_30x	NC_000019.10 - 11113589	Oct 16, 2022 (156)
185	The Avon Longitudinal Study of Parents and Children	NC_000019.9 - 11224265	Oct 12, 2018 (152)
186	Genetic variation in the Estonian population	NC_000019.9 - 11224265	Oct 12, 2018 (152)
187	ExAC	NC_000019.9 - 11224265	Oct 12, 2018 (152)
188	FINRISK	NC_000019.9 - 11224265	Apr 27, 2020 (154)
189	The Danish reference pan genome	NC_000019.9 - 11224265	Apr 27, 2020 (154)
190	gnomAD - Genomes	NC_000019.10 - 11113589	Apr 27, 2021 (155)
191	gnomAD - Exomes	NC_000019.9 - 11224265	Jul 13, 2019 (153)
192	GO Exome Sequencing Project	NC_000019.9 - 11224265	Oct 12, 2018 (152)
193	Genome of the Netherlands Release 5	NC_000019.9 - 11224265	Apr 27, 2020 (154)
194	HGDP-CEPH-db Supplement 1	NC_000019.8 - 11085265	Apr 27, 2020 (154)
195	HapMap	NC_000019.10 - 11113589	Apr 27, 2020 (154)
196	KOREAN population from KRGDB	NC_000019.9 - 11224265	Apr 27, 2020 (154)
197	Korean Genome Project	NC_000019.10 - 11113589	Apr 27, 2020 (154)
198	Medical Genome Project healthy controls from Spanish population	NC_000019.9 - 11224265	Apr 27, 2020 (154)
199	Northern Sweden	NC_000019.9 - 11224265	Jul 13, 2019 (153)
200	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000019.9 - 11224265	Apr 27, 2021 (155)
201	CNV burdens in cranial meningiomas	NC_000019.9 - 11224265	Apr 27, 2021 (155)
202	PharmGKB Aggregated	NC_000019.10 - 11113589	Apr 27, 2020 (154)
203	Qatari	NC_000019.9 - 11224265	Apr 27, 2020 (154)
204	SGDP_PRJ	NC_000019.9 - 11224265	Apr 27, 2020 (154)
205	Siberian	NC_000019.9 - 11224265	Apr 27, 2020 (154)
206	8.3KJPN	NC_000019.9 - 11224265	Apr 27, 2021 (155)
207	14KJPN	NC_000019.10 - 11113589	Oct 16, 2022 (156)
208	TopMed	NC_000019.10 - 11113589	Apr 27, 2021 (155)
209	UK 10K study - Twins	NC_000019.9 - 11224265	Oct 12, 2018 (152)
210	A Vietnamese Genetic Variation Database	NC_000019.9 - 11224265	Jul 13, 2019 (153)
211	ALFA	NC_000019.10 - 11113589	Apr 27, 2021 (155)
212	ClinVar	RCV000182337.10	Oct 16, 2022 (156)
213	ClinVar	RCV000237328.12	Oct 16, 2022 (156)
214	ClinVar	RCV001275279.6	Oct 16, 2022 (156)
215	ClinVar	RCV001812170.4	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)
rs1004681	Jan 18, 2001 (92)
rs17242465	Mar 11, 2006 (126)
rs17698665	Oct 08, 2004 (123)
rs17851177	Mar 11, 2006 (126)
rs56832646	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
272928, ss81737202, ss111083019, ss114837911, ss160750784, ss169076907, ss171497488, ss203663559, ss208503602, ss244303783, ss255492403, ss283125579, ss287345827, ss292212625, ss410939364, ss481172105, ss491758583, ss825542254, ss1698152458, ss1713651050, ss2635081456, ss3639115945, ss3639568151, ss3643190185, ss3847595036	NC_000019.8:11085264:A:G	NC_000019.10:11113588:A:G	(self)
75750467, 41971378, 29677987, 3866568, 110982, 4743544, 12959267, 1699242, 18697992, 44927708, 614986, 16144260, 1072092, 288397, 19618475, 39794551, 10600699, 84739220, 41971378, 9278193, ss228042620, ss237603646, ss243825543, ss342486205, ss481194807, ss482182237, ss485381277, ss491149932, ss537320759, ss565856169, ss661712457, ss778560617, ss783136196, ss784092557, ss832395198, ss833032224, ss833623052, ss834017502, ss974504327, ss994092201, ss1067584714, ss1081761206, ss1362372265, ss1428337362, ss1578557806, ss1584114521, ss1637574346, ss1680568379, ss1693378319, ss1711499226, ss1752272555, ss1809210128, ss1937576553, ss1946527839, ss1959841090, ss1968605391, ss2029561218, ss2095083480, ss2158084345, ss2629279752, ss2633518719, ss2702688420, ss2710876368, ss2743645114, ss2750076145, ss2960522642, ss3017108343, ss3021881577, ss3023071730, ss3352200682, ss3625736020, ss3627890617, ss3631491859, ss3633884404, ss3634724389, ss3635571387, ss3636413277, ss3637323083, ss3638216188, ss3640431697, ss3644716428, ss3646530214, ss3652306218, ss3683939739, ss3742859395, ss3744163854, ss3745024445, ss3755817614, ss3772521748, ss3788470050, ss3793389792, ss3798276451, ss3825242256, ss3825532513, ss3825547078, ss3825926967, ss3835354256, ss3841298567, ss3887777571, ss3937750314, ss3984144806, ss3984738844, ss3985846165, ss3986079376, ss3986779722, ss4017815765, ss5226769913, ss5433601176, ss5512040679, ss5623976315, ss5624086041, ss5661987070, ss5800004028, ss5800072943, ss5800219409, ss5840262104, ss5847835732, ss5848481983, ss5936572335, ss5953408910, ss5979539997, ss5981032526, ss5981309439	NC_000019.9:11224264:A:G	NC_000019.10:11113588:A:G	(self)
RCV000182337.10, RCV000237328.12, RCV001275279.6, RCV001812170.4, 99446585, 534220858, 1667861, 37228740, 5481, 118896806, 283681333, 1871359577, ss2224329933, ss3028613633, ss3650868992, ss3702355421, ss3821072382, ss3846803066, ss3980850739, ss5068135669, ss5236956078, ss5237671750, ss5306514144, ss5314452078, ss5499140321, ss5611920650, ss5785059702, ss5817412409, ss5852206903, ss5927318354	NC_000019.10:11113588:A:G	NC_000019.10:11113588:A:G	(self)
ss12465277, ss21519728, ss61710113	NT_011295.10:2487066:A:G	NC_000019.10:11113588:A:G	(self)
ss7535, ss1466214, ss3230225, ss3608180, ss5781718, ss8819812, ss16246430, ss22887417, ss23144314, ss24191698, ss28505479, ss40963431, ss66686406, ss67426675, ss67785000, ss69368059, ss70850235, ss71435433, ss75576109, ss76876891, ss79211736, ss83346976, ss84140373, ss96253364, ss103423559, ss107937041, ss122486095, ss136324883, ss154344440, ss155618571, ss159520941, ss159738592, ss172059639, ss173942060	NT_011295.11:2487066:A:G	NC_000019.10:11113588:A:G	(self)
44927708, ss3937750314	NC_000019.9:11224264:A:T	NC_000019.10:11113588:A:T	(self)

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

13 citations for rs5930

PMID	Title	Author	Year	Journal
11642133	[Four new mutations and polymorphic variants of the low density lipoprotein receptor in patients with familial hypercholesterolemia in Saint Petersburg].	Tatishcheva IuA et al.	2001	Genetika
15500681	Detecting imbalanced expression of SNP alleles by minisequencing on microarrays.	Liljedahl U et al.	2004	BMC biotechnology
18296645	Polymorphisms of genes in the lipid metabolism pathway and risk of biliary tract cancers and stones: a population-based case-control study in Shanghai, China.	Andreotti G et al.	2008	Cancer epidemiology, biomarkers & prevention
21547229	Neuroimaging measures as endophenotypes in Alzheimer's disease.	Braskie MN et al.	2011	International journal of Alzheimer's disease
21708280	Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis.	Srivastava K et al.	2011	Mutation research
24033266	A systematic approach to assessing the clinical significance of genetic variants.	Duzkale H et al.	2013	Clinical genetics
25741868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S et al.	2015	Genetics in medicine
28099631	Associations of cerebrovascular metabolism genotypes with neuropsychiatric symptoms and age at onset of Alzheimer's disease dementia.	Oliveira FF et al.	2017	Revista brasileira de psiquiatria (Sao Paulo, Brazil
28652652	Gallbladder cancer epidemiology, pathogenesis and molecular genetics: Recent update.	Sharma A et al.	2017	World journal of gastroenterology
30684189	Association between selected cholesterol-related gene polymorphisms and Alzheimer's disease in a Turkish cohort.	Guven G et al.	2019	Molecular biology reports
31719297	Pharmacogenetic analyses of variations of measures of cardiovascular risk in Alzheimer's dementia.	de Oliveira FF et al.	2019	The Indian journal of medical research
32474901	Selected LDLR and APOE Polymorphisms Affect Cognitive and Functional Response to Lipophilic Statins in Alzheimer's Disease.	de Oliveira FF et al.	2020	Journal of molecular neuroscience
34021444	Cholesterol-related gene variants are associated with diabetes in coronary artery disease patients.	Ozuynuk AS et al.	2021	Molecular biology reports

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
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs5930