Name: rs1801582
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.

rs1801582

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:161386823 (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 / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.166346 (44030/264690, TOPMED)
G=0.155368 (17304/111374, ALFA)
G=0.15457 (12164/78694, PAGE_STUDY) (+ 18 more)
G=0.17577 (2286/13006, GO-ESP)
G=0.1752 (1122/6404, 1000G_30x)
G=0.1721 (862/5008, 1000G)
G=0.1489 (667/4480, Estonian)
G=0.0444 (130/2930, KOREAN)
G=0.1739 (329/1892, HapMap)
G=0.0469 (86/1832, Korea1K)
G=0.155 (155/998, GoNL)
G=0.063 (50/790, PRJEB37584)
G=0.094 (58/616, Vietnamese)
G=0.133 (80/600, NorthernSweden)
G=0.208 (111/534, MGP)
G=0.145 (44/304, FINRISK)
G=0.148 (32/216, Qatari)
C=0.394 (67/170, SGDP_PRJ)
G=0.10 (4/40, GENOME_DK)
C=0.50 (8/16, Siberian)
G=0.50 (8/16, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: PRKN : Missense Variant
Publications: 8 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	111374	C=0.844632	A=0.000000, G=0.155368, T=0.000000
European	Sub	94808	C=0.83954	A=0.00000, G=0.16046, T=0.00000
African	Sub	3514	C=0.9240	A=0.0000, G=0.0760, T=0.0000
African Others	Sub	138	C=0.957	A=0.000, G=0.043, T=0.000
African American	Sub	3376	C=0.9227	A=0.0000, G=0.0773, T=0.0000
Asian	Sub	3312	C=0.9182	A=0.0000, G=0.0818, T=0.0000
East Asian	Sub	2662	C=0.9497	A=0.0000, G=0.0503, T=0.0000
Other Asian	Sub	650	C=0.789	A=0.000, G=0.211, T=0.000
Latin American 1	Sub	742	C=0.850	A=0.000, G=0.150, T=0.000
Latin American 2	Sub	834	C=0.944	A=0.000, G=0.056, T=0.000
South Asian	Sub	230	C=0.822	A=0.000, G=0.178, T=0.000
Other	Sub	7934	C=0.8293	A=0.0000, G=0.1707, T=0.0000

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	C=0.833654	G=0.166346
Allele Frequency Aggregator	Total	Global	111374	C=0.844632	A=0.000000, G=0.155368, T=0.000000
Allele Frequency Aggregator	European	Sub	94808	C=0.83954	A=0.00000, G=0.16046, T=0.00000
Allele Frequency Aggregator	Other	Sub	7934	C=0.8293	A=0.0000, G=0.1707, T=0.0000
Allele Frequency Aggregator	African	Sub	3514	C=0.9240	A=0.0000, G=0.0760, T=0.0000
Allele Frequency Aggregator	Asian	Sub	3312	C=0.9182	A=0.0000, G=0.0818, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	834	C=0.944	A=0.000, G=0.056, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	742	C=0.850	A=0.000, G=0.150, T=0.000
Allele Frequency Aggregator	South Asian	Sub	230	C=0.822	A=0.000, G=0.178, T=0.000
The PAGE Study	Global	Study-wide	78694	C=0.84543	G=0.15457
The PAGE Study	AfricanAmerican	Sub	32510	C=0.82599	G=0.17401
The PAGE Study	Mexican	Sub	10808	C=0.87370	G=0.12630
The PAGE Study	Asian	Sub	8318	C=0.9228	G=0.0772
The PAGE Study	PuertoRican	Sub	7918	C=0.8308	G=0.1692
The PAGE Study	NativeHawaiian	Sub	4534	C=0.8893	G=0.1107
The PAGE Study	Cuban	Sub	4230	C=0.8000	G=0.2000
The PAGE Study	Dominican	Sub	3828	C=0.8205	G=0.1795
The PAGE Study	CentralAmerican	Sub	2450	C=0.8359	G=0.1641
The PAGE Study	SouthAmerican	Sub	1982	C=0.8587	G=0.1413
The PAGE Study	NativeAmerican	Sub	1260	C=0.8365	G=0.1635
The PAGE Study	SouthAsian	Sub	856	C=0.723	G=0.277
GO Exome Sequencing Project	Global	Study-wide	13006	C=0.82423	G=0.17577
GO Exome Sequencing Project	European American	Sub	8600	C=0.8291	G=0.1709
GO Exome Sequencing Project	African American	Sub	4406	C=0.8148	G=0.1852
1000Genomes_30x	Global	Study-wide	6404	C=0.8246	G=0.1752, T=0.0002
1000Genomes_30x	African	Sub	1786	C=0.8208	G=0.1786, T=0.0006
1000Genomes_30x	Europe	Sub	1266	C=0.8215	G=0.1785, T=0.0000
1000Genomes_30x	South Asian	Sub	1202	C=0.7338	G=0.2662, T=0.0000
1000Genomes_30x	East Asian	Sub	1170	C=0.9128	G=0.0872, T=0.0000
1000Genomes_30x	American	Sub	980	C=0.842	G=0.158, T=0.000
1000Genomes	Global	Study-wide	5008	C=0.8279	G=0.1721
1000Genomes	African	Sub	1322	C=0.8230	G=0.1770
1000Genomes	East Asian	Sub	1008	C=0.9147	G=0.0853
1000Genomes	Europe	Sub	1006	C=0.8270	G=0.1730
1000Genomes	South Asian	Sub	978	C=0.740	G=0.260
1000Genomes	American	Sub	694	C=0.836	G=0.164
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.8511	G=0.1489
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.9556	G=0.0444
HapMap	Global	Study-wide	1892	C=0.8261	G=0.1739
HapMap	American	Sub	770	C=0.818	G=0.182
HapMap	African	Sub	692	C=0.790	G=0.210
HapMap	Asian	Sub	254	C=0.929	G=0.071
HapMap	Europe	Sub	176	C=0.852	G=0.148
Korean Genome Project	KOREAN	Study-wide	1832	C=0.9531	G=0.0469
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.845	G=0.155
CNV burdens in cranial meningiomas	Global	Study-wide	790	C=0.937	G=0.063
CNV burdens in cranial meningiomas	CRM	Sub	790	C=0.937	G=0.063
A Vietnamese Genetic Variation Database	Global	Study-wide	616	C=0.906	G=0.094
Northern Sweden	ACPOP	Study-wide	600	C=0.867	G=0.133
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.792	G=0.208
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.855	G=0.145
Qatari	Global	Study-wide	216	C=0.852	G=0.148
SGDP_PRJ	Global	Study-wide	170	C=0.394	G=0.606
The Danish reference pan genome	Danish	Study-wide	40	C=0.90	G=0.10
Siberian	Global	Study-wide	16	C=0.50	G=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 6	NC_000006.12:g.161386823C>A
GRCh38.p14 chr 6	NC_000006.12:g.161386823C>G
GRCh38.p14 chr 6	NC_000006.12:g.161386823C>T
GRCh37.p13 chr 6	NC_000006.11:g.161807855C>A
GRCh37.p13 chr 6	NC_000006.11:g.161807855C>G
GRCh37.p13 chr 6	NC_000006.11:g.161807855C>T
PRKN RefSeqGene	NG_008289.2:g.1345980G>T
PRKN RefSeqGene	NG_008289.2:g.1345980G>C
PRKN RefSeqGene	NG_008289.2:g.1345980G>A

Gene: PRKN, parkin RBR E3 ubiquitin protein ligase (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PRKN transcript variant 1	NM_004562.3:c.1138G>T	V [GTA] > L [TTA]	Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform 1	NP_004553.2:p.Val380Leu	V (Val) > L (Leu)	Missense Variant
PRKN transcript variant 1	NM_004562.3:c.1138G>C	V [GTA] > L [CTA]	Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform 1	NP_004553.2:p.Val380Leu	V (Val) > L (Leu)	Missense Variant
PRKN transcript variant 1	NM_004562.3:c.1138G>A	V [GTA] > I [ATA]	Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform 1	NP_004553.2:p.Val380Ile	V (Val) > I (Ile)	Missense Variant
PRKN transcript variant 2	NM_013987.3:c.1054G>T	V [GTA] > L [TTA]	Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform 2	NP_054642.2:p.Val352Leu	V (Val) > L (Leu)	Missense Variant
PRKN transcript variant 2	NM_013987.3:c.1054G>C	V [GTA] > L [CTA]	Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform 2	NP_054642.2:p.Val352Leu	V (Val) > L (Leu)	Missense Variant
PRKN transcript variant 2	NM_013987.3:c.1054G>A	V [GTA] > I [ATA]	Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform 2	NP_054642.2:p.Val352Ile	V (Val) > I (Ile)	Missense Variant
PRKN transcript variant 3	NM_013988.3:c.691G>T	V [GTA] > L [TTA]	Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform 3	NP_054643.2:p.Val231Leu	V (Val) > L (Leu)	Missense Variant
PRKN transcript variant 3	NM_013988.3:c.691G>C	V [GTA] > L [CTA]	Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform 3	NP_054643.2:p.Val231Leu	V (Val) > L (Leu)	Missense Variant
PRKN transcript variant 3	NM_013988.3:c.691G>A	V [GTA] > I [ATA]	Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform 3	NP_054643.2:p.Val231Ile	V (Val) > I (Ile)	Missense Variant
PRKN transcript variant X1	XM_017010908.2:c.1252G>T	V [GTA] > L [TTA]	Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform X1	XP_016866397.1:p.Val418Leu	V (Val) > L (Leu)	Missense Variant
PRKN transcript variant X1	XM_017010908.2:c.1252G>C	V [GTA] > L [CTA]	Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform X1	XP_016866397.1:p.Val418Leu	V (Val) > L (Leu)	Missense Variant
PRKN transcript variant X1	XM_017010908.2:c.1252G>A	V [GTA] > I [ATA]	Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform X1	XP_016866397.1:p.Val418Ile	V (Val) > I (Ile)	Missense Variant
PRKN transcript variant X2	XM_011535863.2:c.1135G>T	V [GTA] > L [TTA]	Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform X2	XP_011534165.1:p.Val379Leu	V (Val) > L (Leu)	Missense Variant
PRKN transcript variant X2	XM_011535863.2:c.1135G>C	V [GTA] > L [CTA]	Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform X2	XP_011534165.1:p.Val379Leu	V (Val) > L (Leu)	Missense Variant
PRKN transcript variant X2	XM_011535863.2:c.1135G>A	V [GTA] > I [ATA]	Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform X2	XP_011534165.1:p.Val379Ile	V (Val) > I (Ile)	Missense Variant
PRKN transcript variant X3	XM_024446449.2:c.901G>T	V [GTA] > L [TTA]	Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform X3	XP_024302217.1:p.Val301Leu	V (Val) > L (Leu)	Missense Variant
PRKN transcript variant X3	XM_024446449.2:c.901G>C	V [GTA] > L [CTA]	Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform X3	XP_024302217.1:p.Val301Leu	V (Val) > L (Leu)	Missense Variant
PRKN transcript variant X3	XM_024446449.2:c.901G>A	V [GTA] > I [ATA]	Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform X3	XP_024302217.1:p.Val301Ile	V (Val) > I (Ile)	Missense 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: 1561476 )

ClinVar Accession	Disease Names	Clinical Significance
RCV002108416.3	not provided	Benign

Allele: G (allele ID: 49645 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000034120.5	Autosomal recessive juvenile Parkinson disease 2	Benign
RCV000173805.8	not specified	Benign
RCV001513673.4	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	C=	A	G	T
GRCh38.p14 chr 6	NC_000006.12:g.161386823=	NC_000006.12:g.161386823C>A	NC_000006.12:g.161386823C>G	NC_000006.12:g.161386823C>T
GRCh37.p13 chr 6	NC_000006.11:g.161807855=	NC_000006.11:g.161807855C>A	NC_000006.11:g.161807855C>G	NC_000006.11:g.161807855C>T
PRKN RefSeqGene	NG_008289.2:g.1345980=	NG_008289.2:g.1345980G>T	NG_008289.2:g.1345980G>C	NG_008289.2:g.1345980G>A
PRKN transcript variant 1	NM_004562.3:c.1138=	NM_004562.3:c.1138G>T	NM_004562.3:c.1138G>C	NM_004562.3:c.1138G>A
PRKN transcript variant 1	NM_004562.2:c.1138=	NM_004562.2:c.1138G>T	NM_004562.2:c.1138G>C	NM_004562.2:c.1138G>A
PRKN transcript variant 2	NM_013987.3:c.1054=	NM_013987.3:c.1054G>T	NM_013987.3:c.1054G>C	NM_013987.3:c.1054G>A
PRKN transcript variant 2	NM_013987.2:c.1054=	NM_013987.2:c.1054G>T	NM_013987.2:c.1054G>C	NM_013987.2:c.1054G>A
PRKN transcript variant 3	NM_013988.3:c.691=	NM_013988.3:c.691G>T	NM_013988.3:c.691G>C	NM_013988.3:c.691G>A
PRKN transcript variant 3	NM_013988.2:c.691=	NM_013988.2:c.691G>T	NM_013988.2:c.691G>C	NM_013988.2:c.691G>A
PRKN transcript variant X1	XM_017010908.2:c.1252=	XM_017010908.2:c.1252G>T	XM_017010908.2:c.1252G>C	XM_017010908.2:c.1252G>A
PRKN transcript variant X1	XM_017010908.1:c.1252=	XM_017010908.1:c.1252G>T	XM_017010908.1:c.1252G>C	XM_017010908.1:c.1252G>A
PRKN transcript variant X2	XM_011535863.2:c.1135=	XM_011535863.2:c.1135G>T	XM_011535863.2:c.1135G>C	XM_011535863.2:c.1135G>A
PRKN transcript variant X2	XM_011535863.1:c.1135=	XM_011535863.1:c.1135G>T	XM_011535863.1:c.1135G>C	XM_011535863.1:c.1135G>A
PRKN transcript variant X3	XM_024446449.2:c.901=	XM_024446449.2:c.901G>T	XM_024446449.2:c.901G>C	XM_024446449.2:c.901G>A
PRKN transcript variant X3	XM_024446449.1:c.901=	XM_024446449.1:c.901G>T	XM_024446449.1:c.901G>C	XM_024446449.1:c.901G>A
E3 ubiquitin-protein ligase parkin isoform 1	NP_004553.2:p.Val380=	NP_004553.2:p.Val380Leu	NP_004553.2:p.Val380Leu	NP_004553.2:p.Val380Ile
E3 ubiquitin-protein ligase parkin isoform 2	NP_054642.2:p.Val352=	NP_054642.2:p.Val352Leu	NP_054642.2:p.Val352Leu	NP_054642.2:p.Val352Ile
E3 ubiquitin-protein ligase parkin isoform 3	NP_054643.2:p.Val231=	NP_054643.2:p.Val231Leu	NP_054643.2:p.Val231Leu	NP_054643.2:p.Val231Ile
E3 ubiquitin-protein ligase parkin isoform X1	XP_016866397.1:p.Val418=	XP_016866397.1:p.Val418Leu	XP_016866397.1:p.Val418Leu	XP_016866397.1:p.Val418Ile
E3 ubiquitin-protein ligase parkin isoform X2	XP_011534165.1:p.Val379=	XP_011534165.1:p.Val379Leu	XP_011534165.1:p.Val379Leu	XP_011534165.1:p.Val379Ile
E3 ubiquitin-protein ligase parkin isoform X3	XP_024302217.1:p.Val301=	XP_024302217.1:p.Val301Leu	XP_024302217.1:p.Val301Leu	XP_024302217.1:p.Val301Ile

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#.

140 SubSNP, 34 Frequency, 4 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	HGBASE	ss2421915	Nov 14, 2000 (89)
2	SEQUENOM	ss24796324	Sep 20, 2004 (123)
3	PERLEGEN	ss68998900	May 16, 2007 (127)
4	AFFY	ss74816337	Aug 16, 2007 (128)
5	AFFY	ss76766816	Dec 07, 2007 (129)
6	SI_EXO	ss76887980	Dec 07, 2007 (129)
7	HGSV	ss78454817	Dec 07, 2007 (129)
8	SHGC	ss99307784	Feb 06, 2009 (130)
9	BGI	ss104380829	Dec 01, 2009 (131)
10	KRIBB_YJKIM	ss104853756	Feb 06, 2009 (130)
11	1000GENOMES	ss111233802	Jan 25, 2009 (130)
12	SEATTLESEQ	ss159714003	Dec 01, 2009 (131)
13	COMPLETE_GENOMICS	ss165117576	Jul 04, 2010 (132)
14	COMPLETE_GENOMICS	ss167452395	Jul 04, 2010 (132)
15	ILLUMINA	ss168913702	Jul 04, 2010 (132)
16	GENEREVIEWS	ss184955882	Dec 29, 2009 (131)
17	BUSHMAN	ss202694295	Jul 04, 2010 (132)
18	1000GENOMES	ss211959127	Jul 14, 2010 (132)
19	1000GENOMES	ss222799847	Jul 14, 2010 (132)
20	1000GENOMES	ss233771581	Jul 15, 2010 (132)
21	1000GENOMES	ss240767931	Jul 15, 2010 (132)
22	GMI	ss279108262	May 04, 2012 (137)
23	GMI	ss285542089	Apr 25, 2013 (138)
24	NHLBI-ESP	ss342228243	May 09, 2011 (134)
25	ILLUMINA	ss484054236	May 04, 2012 (137)
26	ILLUMINA	ss485190956	May 04, 2012 (137)
27	1000GENOMES	ss490938611	May 04, 2012 (137)
28	EXOME_CHIP	ss491394631	May 04, 2012 (137)
29	CLINSEQ_SNP	ss491899998	May 04, 2012 (137)
30	ILLUMINA	ss536245417	Sep 08, 2015 (146)
31	TISHKOFF	ss559674192	Apr 25, 2013 (138)
32	SSMP	ss654017455	Apr 25, 2013 (138)
33	ILLUMINA	ss779524146	Aug 21, 2014 (142)
34	ILLUMINA	ss780856270	Aug 21, 2014 (142)
35	ILLUMINA	ss782471775	Aug 21, 2014 (142)
36	ILLUMINA	ss783540349	Aug 21, 2014 (142)
37	ILLUMINA	ss834994648	Aug 21, 2014 (142)
38	JMKIDD_LAB	ss974462798	Aug 21, 2014 (142)
39	EVA-GONL	ss983738490	Aug 21, 2014 (142)
40	JMKIDD_LAB	ss1067484740	Aug 21, 2014 (142)
41	JMKIDD_LAB	ss1074213969	Aug 21, 2014 (142)
42	1000GENOMES	ss1323178529	Aug 21, 2014 (142)
43	DDI	ss1430962359	Apr 01, 2015 (144)
44	EVA_GENOME_DK	ss1581987726	Apr 01, 2015 (144)
45	EVA_FINRISK	ss1584050295	Apr 01, 2015 (144)
46	EVA_DECODE	ss1593314869	Apr 01, 2015 (144)
47	EVA_UK10K_ALSPAC	ss1617186241	Apr 01, 2015 (144)
48	EVA_UK10K_ALSPAC	ss1617186242	Apr 01, 2015 (144)
49	EVA_UK10K_TWINSUK	ss1660180274	Apr 01, 2015 (144)
50	EVA_UK10K_TWINSUK	ss1660180275	Apr 01, 2015 (144)
51	EVA_EXAC	ss1688580831	Apr 01, 2015 (144)
52	EVA_EXAC	ss1688580832	Apr 01, 2015 (144)
53	EVA_MGP	ss1711149332	Apr 01, 2015 (144)
54	EVA_SVP	ss1712917576	Apr 01, 2015 (144)
55	ILLUMINA	ss1752613601	Sep 08, 2015 (146)
56	HAMMER_LAB	ss1804775676	Sep 08, 2015 (146)
57	ILLUMINA	ss1917813291	Feb 12, 2016 (147)
58	WEILL_CORNELL_DGM	ss1926980412	Feb 12, 2016 (147)
59	ILLUMINA	ss1946197552	Feb 12, 2016 (147)
60	ILLUMINA	ss1958969941	Feb 12, 2016 (147)
61	JJLAB	ss2024156804	Sep 14, 2016 (149)
62	ILLUMINA	ss2094830017	Dec 20, 2016 (150)
63	ILLUMINA	ss2095192971	Dec 20, 2016 (150)
64	USC_VALOUEV	ss2152350274	Dec 20, 2016 (150)
65	HUMAN_LONGEVITY	ss2290263672	Dec 20, 2016 (150)
66	ILLUMINA	ss2634540811	Nov 08, 2017 (151)
67	GRF	ss2707989611	Nov 08, 2017 (151)
68	GNOMAD	ss2736191358	Nov 08, 2017 (151)
69	GNOMAD	ss2747742500	Nov 08, 2017 (151)
70	GNOMAD	ss2847675331	Nov 08, 2017 (151)
71	AFFY	ss2985394528	Nov 08, 2017 (151)
72	AFFY	ss2986021744	Nov 08, 2017 (151)
73	SWEGEN	ss3000312465	Nov 08, 2017 (151)
74	ILLUMINA	ss3022688504	Nov 08, 2017 (151)
75	BIOINF_KMB_FNS_UNIBA	ss3025869598	Nov 08, 2017 (151)
76	CSHL	ss3347333224	Nov 08, 2017 (151)
77	ILLUMINA	ss3625918165	Oct 12, 2018 (152)
78	ILLUMINA	ss3629708288	Oct 12, 2018 (152)
79	ILLUMINA	ss3629708289	Oct 12, 2018 (152)
80	ILLUMINA	ss3632452345	Oct 12, 2018 (152)
81	ILLUMINA	ss3635099403	Oct 12, 2018 (152)
82	ILLUMINA	ss3638670217	Oct 12, 2018 (152)
83	ILLUMINA	ss3640806704	Oct 12, 2018 (152)
84	ILLUMINA	ss3644930685	Oct 12, 2018 (152)
85	OMUKHERJEE_ADBS	ss3646346558	Oct 12, 2018 (152)
86	ILLUMINA	ss3653214289	Oct 12, 2018 (152)
87	ILLUMINA	ss3653214290	Oct 12, 2018 (152)
88	ILLUMINA	ss3654154529	Oct 12, 2018 (152)
89	EGCUT_WGS	ss3668251051	Jul 13, 2019 (153)
90	EVA_DECODE	ss3718723405	Jul 13, 2019 (153)
91	ILLUMINA	ss3726404175	Jul 13, 2019 (153)
92	ACPOP	ss3734182876	Jul 13, 2019 (153)
93	ILLUMINA	ss3744563768	Jul 13, 2019 (153)
94	ILLUMINA	ss3745399315	Jul 13, 2019 (153)
95	EVA	ss3765949416	Jul 13, 2019 (153)
96	PAGE_CC	ss3771338563	Jul 13, 2019 (153)
97	ILLUMINA	ss3772892615	Jul 13, 2019 (153)
98	PACBIO	ss3785680508	Jul 13, 2019 (153)
99	PACBIO	ss3790998269	Jul 13, 2019 (153)
100	PACBIO	ss3795877740	Jul 13, 2019 (153)
101	KHV_HUMAN_GENOMES	ss3809113128	Jul 13, 2019 (153)
102	EVA	ss3824242823	Apr 26, 2020 (154)
103	EVA	ss3825517382	Apr 26, 2020 (154)
104	EVA	ss3825711211	Apr 26, 2020 (154)
105	EVA	ss3830309006	Apr 26, 2020 (154)
106	EVA	ss3838638830	Apr 26, 2020 (154)
107	EVA	ss3844089020	Apr 26, 2020 (154)
108	SGDP_PRJ	ss3866188877	Apr 26, 2020 (154)
109	KRGDB	ss3913181244	Apr 26, 2020 (154)
110	KOGIC	ss3960510961	Apr 26, 2020 (154)
111	FSA-LAB	ss3984354322	Apr 26, 2021 (155)
112	FSA-LAB	ss3984354323	Apr 26, 2021 (155)
113	EVA	ss3984580392	Apr 26, 2021 (155)
114	EVA	ss3986366307	Apr 26, 2021 (155)
115	TOPMED	ss4729548793	Apr 26, 2021 (155)
116	TOMMO_GENOMICS	ss5180943616	Apr 26, 2021 (155)
117	TOMMO_GENOMICS	ss5180943617	Apr 26, 2021 (155)
118	EVA	ss5237029669	Apr 26, 2021 (155)
119	EVA	ss5237194096	Apr 26, 2021 (155)
120	EVA	ss5237648268	Oct 13, 2022 (156)
121	1000G_HIGH_COVERAGE	ss5271146077	Oct 13, 2022 (156)
122	TRAN_CS_UWATERLOO	ss5314418587	Oct 13, 2022 (156)
123	EVA	ss5315207928	Oct 13, 2022 (156)
124	EVA	ss5370458131	Oct 13, 2022 (156)
125	HUGCELL_USP	ss5468518066	Oct 13, 2022 (156)
126	HUGCELL_USP	ss5468518067	Oct 13, 2022 (156)
127	1000G_HIGH_COVERAGE	ss5558480692	Oct 13, 2022 (156)
128	EVA	ss5624162368	Oct 13, 2022 (156)
129	SANFORD_IMAGENETICS	ss5641948661	Oct 13, 2022 (156)
130	TOMMO_GENOMICS	ss5720119597	Oct 13, 2022 (156)
131	TOMMO_GENOMICS	ss5720119598	Oct 13, 2022 (156)
132	YY_MCH	ss5808154907	Oct 13, 2022 (156)
133	EVA	ss5843301660	Oct 13, 2022 (156)
134	EVA	ss5848121828	Oct 13, 2022 (156)
135	EVA	ss5848672083	Oct 13, 2022 (156)
136	EVA	ss5855677672	Oct 13, 2022 (156)
137	EVA	ss5886872696	Oct 13, 2022 (156)
138	EVA	ss5935845476	Oct 13, 2022 (156)
139	EVA	ss5971021103	Oct 13, 2022 (156)
140	EVA	ss5971021104	Oct 13, 2022 (156)
141	1000Genomes	NC_000006.11 - 161807855	Oct 12, 2018 (152)
142	1000Genomes_30x	NC_000006.12 - 161386823	Oct 13, 2022 (156)
143	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 19566264 (NC_000006.11:161807854:C:C 3201/3854, NC_000006.11:161807854:C:G 653/3854) Row 19566265 (NC_000006.11:161807854:C:C 3854/3854, NC_000006.11:161807854:C:T 0/3854)	-	Oct 12, 2018 (152)
144	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 19566264 (NC_000006.11:161807854:C:C 3201/3854, NC_000006.11:161807854:C:G 653/3854) Row 19566265 (NC_000006.11:161807854:C:C 3854/3854, NC_000006.11:161807854:C:T 0/3854)	-	Oct 12, 2018 (152)
145	Genetic variation in the Estonian population	NC_000006.11 - 161807855	Oct 12, 2018 (152)
146	ExAC Submission ignored due to conflicting rows: Row 8634544 (NC_000006.11:161807854:C:C 101424/121402, NC_000006.11:161807854:C:G 19978/121402) Row 8634545 (NC_000006.11:161807854:C:C 121398/121402, NC_000006.11:161807854:C:T 4/121402)	-	Oct 12, 2018 (152)
147	ExAC Submission ignored due to conflicting rows: Row 8634544 (NC_000006.11:161807854:C:C 101424/121402, NC_000006.11:161807854:C:G 19978/121402) Row 8634545 (NC_000006.11:161807854:C:C 121398/121402, NC_000006.11:161807854:C:T 4/121402)	-	Oct 12, 2018 (152)
148	FINRISK	NC_000006.11 - 161807855	Apr 26, 2020 (154)
149	The Danish reference pan genome	NC_000006.11 - 161807855	Apr 26, 2020 (154)
150	gnomAD - Genomes Submission ignored due to conflicting rows: Row 247630620 (NC_000006.12:161386822:C:G 23366/140032) Row 247630621 (NC_000006.12:161386822:C:T 5/140086)	-	Apr 26, 2021 (155)
151	gnomAD - Genomes Submission ignored due to conflicting rows: Row 247630620 (NC_000006.12:161386822:C:G 23366/140032) Row 247630621 (NC_000006.12:161386822:C:T 5/140086)	-	Apr 26, 2021 (155)
152	gnomAD - Exomes Submission ignored due to conflicting rows: Row 5347449 (NC_000006.11:161807854:C:C 210183/251460, NC_000006.11:161807854:C:G 41277/251460) Row 5347450 (NC_000006.11:161807854:C:C 251452/251460, NC_000006.11:161807854:C:T 8/251460)	-	Jul 13, 2019 (153)
153	gnomAD - Exomes Submission ignored due to conflicting rows: Row 5347449 (NC_000006.11:161807854:C:C 210183/251460, NC_000006.11:161807854:C:G 41277/251460) Row 5347450 (NC_000006.11:161807854:C:C 251452/251460, NC_000006.11:161807854:C:T 8/251460)	-	Jul 13, 2019 (153)
154	GO Exome Sequencing Project	NC_000006.11 - 161807855	Oct 12, 2018 (152)
155	Genome of the Netherlands Release 5	NC_000006.11 - 161807855	Apr 26, 2020 (154)
156	HapMap	NC_000006.12 - 161386823	Apr 26, 2020 (154)
157	KOREAN population from KRGDB	NC_000006.11 - 161807855	Apr 26, 2020 (154)
158	Korean Genome Project	NC_000006.12 - 161386823	Apr 26, 2020 (154)
159	Medical Genome Project healthy controls from Spanish population	NC_000006.11 - 161807855	Apr 26, 2020 (154)
160	Northern Sweden	NC_000006.11 - 161807855	Jul 13, 2019 (153)
161	The PAGE Study	NC_000006.12 - 161386823	Jul 13, 2019 (153)
162	CNV burdens in cranial meningiomas	NC_000006.11 - 161807855	Apr 26, 2021 (155)
163	Qatari	NC_000006.11 - 161807855	Apr 26, 2020 (154)
164	SGDP_PRJ	NC_000006.11 - 161807855	Apr 26, 2020 (154)
165	Siberian	NC_000006.11 - 161807855	Apr 26, 2020 (154)
166	8.3KJPN Submission ignored due to conflicting rows: Row 38912923 (NC_000006.11:161807854:C:G 1339/16760) Row 38912924 (NC_000006.11:161807854:C:T 1/16760)	-	Apr 26, 2021 (155)
167	8.3KJPN Submission ignored due to conflicting rows: Row 38912923 (NC_000006.11:161807854:C:G 1339/16760) Row 38912924 (NC_000006.11:161807854:C:T 1/16760)	-	Apr 26, 2021 (155)
168	14KJPN Submission ignored due to conflicting rows: Row 53956701 (NC_000006.12:161386822:C:G 2221/28258) Row 53956702 (NC_000006.12:161386822:C:T 1/28258)	-	Oct 13, 2022 (156)
169	14KJPN Submission ignored due to conflicting rows: Row 53956701 (NC_000006.12:161386822:C:G 2221/28258) Row 53956702 (NC_000006.12:161386822:C:T 1/28258)	-	Oct 13, 2022 (156)
170	TopMed	NC_000006.12 - 161386823	Apr 26, 2021 (155)
171	UK 10K study - Twins Submission ignored due to conflicting rows: Row 19566264 (NC_000006.11:161807854:C:C 3092/3708, NC_000006.11:161807854:C:G 616/3708) Row 19566265 (NC_000006.11:161807854:C:C 3707/3708, NC_000006.11:161807854:C:T 1/3708)	-	Oct 12, 2018 (152)
172	UK 10K study - Twins Submission ignored due to conflicting rows: Row 19566264 (NC_000006.11:161807854:C:C 3092/3708, NC_000006.11:161807854:C:G 616/3708) Row 19566265 (NC_000006.11:161807854:C:C 3707/3708, NC_000006.11:161807854:C:T 1/3708)	-	Oct 12, 2018 (152)
173	A Vietnamese Genetic Variation Database	NC_000006.11 - 161807855	Jul 13, 2019 (153)
174	ALFA	NC_000006.12 - 161386823	Apr 26, 2021 (155)
175	ClinVar	RCV000034120.5	Oct 13, 2022 (156)
176	ClinVar	RCV000173805.8	Oct 13, 2022 (156)
177	ClinVar	RCV001513673.4	Oct 13, 2022 (156)
178	ClinVar	RCV002108416.3	Oct 13, 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)
rs52803601	Sep 21, 2007 (128)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
RCV002108416.3, 7260282005	NC_000006.12:161386822:C:A	NC_000006.12:161386822:C:A	(self)
ss78454817	NC_000006.9:161778265:C:G	NC_000006.12:161386822:C:G	(self)
ss76766816, ss111233802, ss165117576, ss167452395, ss202694295, ss211959127, ss279108262, ss285542089, ss485190956, ss491899998, ss1593314869, ss1712917576	NC_000006.10:161727844:C:G	NC_000006.12:161386822:C:G	(self)
35081998, 13989299, 46756, 8152665, 700806, 8707536, 20358638, 265092, 7467741, 129810, 9022342, 18205857, 4866628, 4353879, ss222799847, ss233771581, ss240767931, ss342228243, ss484054236, ss490938611, ss491394631, ss536245417, ss559674192, ss654017455, ss779524146, ss780856270, ss782471775, ss783540349, ss834994648, ss974462798, ss983738490, ss1067484740, ss1074213969, ss1323178529, ss1430962359, ss1581987726, ss1584050295, ss1617186241, ss1660180274, ss1688580831, ss1711149332, ss1752613601, ss1804775676, ss1917813291, ss1926980412, ss1946197552, ss1958969941, ss2024156804, ss2094830017, ss2095192971, ss2152350274, ss2634540811, ss2707989611, ss2736191358, ss2747742500, ss2847675331, ss2985394528, ss2986021744, ss3000312465, ss3022688504, ss3347333224, ss3625918165, ss3629708288, ss3629708289, ss3632452345, ss3635099403, ss3638670217, ss3640806704, ss3644930685, ss3646346558, ss3653214289, ss3653214290, ss3654154529, ss3668251051, ss3734182876, ss3744563768, ss3745399315, ss3765949416, ss3772892615, ss3785680508, ss3790998269, ss3795877740, ss3824242823, ss3825711211, ss3830309006, ss3838638830, ss3866188877, ss3913181244, ss3984354322, ss3984354323, ss3984580392, ss3986366307, ss5180943616, ss5315207928, ss5370458131, ss5624162368, ss5641948661, ss5843301660, ss5848121828, ss5848672083, ss5935845476, ss5971021103, ss5971021104	NC_000006.11:161807854:C:G	NC_000006.12:161386822:C:G	(self)
RCV000034120.5, RCV000173805.8, RCV001513673.4, 46006627, 3299271, 16888962, 560032, 566926351, 7260282005, ss184955882, ss2290263672, ss3025869598, ss3718723405, ss3726404175, ss3771338563, ss3809113128, ss3825517382, ss3844089020, ss3960510961, ss4729548793, ss5237029669, ss5237194096, ss5237648268, ss5271146077, ss5314418587, ss5468518066, ss5558480692, ss5720119597, ss5808154907, ss5855677672, ss5886872696	NC_000006.12:161386822:C:G	NC_000006.12:161386822:C:G	(self)
ss76887980	NT_007422.13:4095195:C:G	NC_000006.12:161386822:C:G	(self)
ss2421915, ss24796324, ss68998900, ss74816337, ss99307784, ss104380829, ss104853756, ss159714003, ss168913702	NT_025741.15:65977311:C:G	NC_000006.12:161386822:C:G	(self)
ss1617186242, ss1660180275, ss1688580832, ss2736191358, ss2747742500, ss2847675331, ss5180943617, ss5935845476	NC_000006.11:161807854:C:T	NC_000006.12:161386822:C:T	(self)
46006627, 7260282005, ss2290263672, ss5468518067, ss5558480692, ss5720119598	NC_000006.12:161386822:C:T	NC_000006.12:161386822:C:T	(self)

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

8 citations for rs1801582

PMID	Title	Author	Year	Journal
10319889	Polymorphism in the parkin gene in sporadic Parkinson's disease.	Wang M et al.	1999	Annals of neurology
12975291	Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease.	Lücking CB et al.	2003	Archives of neurology
14639672	Parkin variants in North American Parkinson's disease: cases and controls.	Lincoln SJ et al.	2003	Movement disorders
20301651	Parkin Type of Early-Onset Parkinson Disease.	Brüggemann N et al.	1993	GeneReviews(®)
21738487	Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.	Do CB et al.	2011	PLoS genetics
22361577	PARK2 variability in Polish Parkinson's disease patients--interaction with mitochondrial haplogroups.	Gaweda-Walerych K et al.	2012	Parkinsonism & related disorders
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
29992529	MTOR Pathway-Based Discovery of Genetic Susceptibility to L-DOPA-Induced Dyskinesia in Parkinson's Disease Patients.	Martín-Flores N et al.	2019	Molecular neurobiology

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).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1801582