Name: rs7966550
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.

rs7966550

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:40294893 (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: T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.093967 (24872/264690, TOPMED)
C=0.104331 (26057/249754, GnomAD_exome)
C=0.120076 (27503/229046, ALFA) (+ 27 more)
C=0.089935 (12594/140034, GnomAD)
C=0.106022 (12684/119636, ExAC)
C=0.07231 (5691/78698, PAGE_STUDY)
C=0.13462 (3804/28258, 14KJPN)
C=0.13592 (2278/16760, 8.3KJPN)
C=0.09488 (1231/12974, GO-ESP)
C=0.0898 (575/6404, 1000G_30x)
C=0.0901 (451/5008, 1000G)
C=0.1000 (448/4480, Estonian)
C=0.1367 (527/3854, ALSPAC)
C=0.1232 (457/3708, TWINSUK)
C=0.1939 (568/2930, KOREAN)
C=0.1114 (232/2082, HGDP_Stanford)
C=0.1910 (350/1832, Korea1K)
C=0.0823 (147/1786, HapMap)
C=0.147 (147/998, GoNL)
C=0.212 (168/792, PRJEB37584)
C=0.141 (87/616, Vietnamese)
C=0.095 (57/600, NorthernSweden)
C=0.137 (73/534, MGP)
C=0.089 (27/304, FINRISK)
C=0.111 (24/216, Qatari)
T=0.471 (65/138, SGDP_PRJ)
C=0.12 (5/40, GENOME_DK)
T=0.50 (9/18, Siberian)
C=0.50 (9/18, Siberian)
C=0.0 (0/4, Ancient Sardinia)

Clinical Significance: Reported in ClinVar
Gene : Consequence: LRRK2 : Synonymous Variant
Publications: 5 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	244848	T=0.882078	C=0.117922
European	Sub	203424	T=0.873766	C=0.126234
African	Sub	12856	T=0.97379	C=0.02621
African Others	Sub	450	T=0.991	C=0.009
African American	Sub	12406	T=0.97316	C=0.02684
Asian	Sub	790	T=0.848	C=0.152
East Asian	Sub	616	T=0.836	C=0.164
Other Asian	Sub	174	T=0.891	C=0.109
Latin American 1	Sub	1198	T=0.8873	C=0.1127
Latin American 2	Sub	6914	T=0.9080	C=0.0920
South Asian	Sub	5048	T=0.9376	C=0.0624
Other	Sub	14618	T=0.88706	C=0.11294

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	T=0.906033	C=0.093967
gnomAD - Exomes	Global	Study-wide	249754	T=0.895669	C=0.104331
gnomAD - Exomes	European	Sub	134658	T=0.882725	C=0.117275
gnomAD - Exomes	Asian	Sub	48648	T=0.89297	C=0.10703
gnomAD - Exomes	American	Sub	34330	T=0.91684	C=0.08316
gnomAD - Exomes	African	Sub	16022	T=0.97872	C=0.02128
gnomAD - Exomes	Ashkenazi Jewish	Sub	10028	T=0.88672	C=0.11328
gnomAD - Exomes	Other	Sub	6068	T=0.8804	C=0.1196
Allele Frequency Aggregator	Total	Global	229046	T=0.879924	C=0.120076
Allele Frequency Aggregator	European	Sub	193704	T=0.873080	C=0.126920
Allele Frequency Aggregator	Other	Sub	13244	T=0.88712	C=0.11288
Allele Frequency Aggregator	African	Sub	8148	T=0.9734	C=0.0266
Allele Frequency Aggregator	Latin American 2	Sub	6914	T=0.9080	C=0.0920
Allele Frequency Aggregator	South Asian	Sub	5048	T=0.9376	C=0.0624
Allele Frequency Aggregator	Latin American 1	Sub	1198	T=0.8873	C=0.1127
Allele Frequency Aggregator	Asian	Sub	790	T=0.848	C=0.152
gnomAD - Genomes	Global	Study-wide	140034	T=0.910065	C=0.089935
gnomAD - Genomes	European	Sub	75808	T=0.88302	C=0.11698
gnomAD - Genomes	African	Sub	42026	T=0.97366	C=0.02634
gnomAD - Genomes	American	Sub	13606	T=0.88777	C=0.11223
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	T=0.8886	C=0.1114
gnomAD - Genomes	East Asian	Sub	3124	T=0.8390	C=0.1610
gnomAD - Genomes	Other	Sub	2150	T=0.8981	C=0.1019
ExAC	Global	Study-wide	119636	T=0.893978	C=0.106022
ExAC	Europe	Sub	72356	T=0.87888	C=0.12112
ExAC	Asian	Sub	25038	T=0.89468	C=0.10532
ExAC	American	Sub	11350	T=0.91568	C=0.08432
ExAC	African	Sub	9998	T=0.9767	C=0.0233
ExAC	Other	Sub	894	T=0.896	C=0.104
The PAGE Study	Global	Study-wide	78698	T=0.92769	C=0.07231
The PAGE Study	AfricanAmerican	Sub	32512	T=0.97186	C=0.02814
The PAGE Study	Mexican	Sub	10810	T=0.91610	C=0.08390
The PAGE Study	Asian	Sub	8318	T=0.8566	C=0.1434
The PAGE Study	PuertoRican	Sub	7918	T=0.8789	C=0.1211
The PAGE Study	NativeHawaiian	Sub	4534	T=0.9213	C=0.0787
The PAGE Study	Cuban	Sub	4230	T=0.8865	C=0.1135
The PAGE Study	Dominican	Sub	3828	T=0.9208	C=0.0792
The PAGE Study	CentralAmerican	Sub	2450	T=0.9200	C=0.0800
The PAGE Study	SouthAmerican	Sub	1982	T=0.8981	C=0.1019
The PAGE Study	NativeAmerican	Sub	1260	T=0.9143	C=0.0857
The PAGE Study	SouthAsian	Sub	856	T=0.917	C=0.083
14KJPN	JAPANESE	Study-wide	28258	T=0.86538	C=0.13462
8.3KJPN	JAPANESE	Study-wide	16760	T=0.86408	C=0.13592
GO Exome Sequencing Project	Global	Study-wide	12974	T=0.90512	C=0.09488
GO Exome Sequencing Project	European American	Sub	8568	T=0.8685	C=0.1315
GO Exome Sequencing Project	African American	Sub	4406	T=0.9764	C=0.0236
1000Genomes_30x	Global	Study-wide	6404	T=0.9102	C=0.0898
1000Genomes_30x	African	Sub	1786	T=0.9871	C=0.0129
1000Genomes_30x	Europe	Sub	1266	T=0.8657	C=0.1343
1000Genomes_30x	South Asian	Sub	1202	T=0.9334	C=0.0666
1000Genomes_30x	East Asian	Sub	1170	T=0.8462	C=0.1538
1000Genomes_30x	American	Sub	980	T=0.876	C=0.124
1000Genomes	Global	Study-wide	5008	T=0.9099	C=0.0901
1000Genomes	African	Sub	1322	T=0.9841	C=0.0159
1000Genomes	East Asian	Sub	1008	T=0.8542	C=0.1458
1000Genomes	Europe	Sub	1006	T=0.8708	C=0.1292
1000Genomes	South Asian	Sub	978	T=0.935	C=0.065
1000Genomes	American	Sub	694	T=0.872	C=0.128
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.9000	C=0.1000
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.8633	C=0.1367
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.8768	C=0.1232
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.8061	C=0.1939
HGDP-CEPH-db Supplement 1	Global	Study-wide	2082	T=0.8886	C=0.1114
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=0.826	C=0.174
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.918	C=0.082
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	348	T=0.868	C=0.132
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.872	C=0.128
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.992	C=0.008
HGDP-CEPH-db Supplement 1	America	Sub	216	T=0.991	C=0.009
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.65	C=0.35
Korean Genome Project	KOREAN	Study-wide	1832	T=0.8090	C=0.1910
HapMap	Global	Study-wide	1786	T=0.9177	C=0.0823
HapMap	American	Sub	770	T=0.903	C=0.097
HapMap	African	Sub	586	T=0.961	C=0.039
HapMap	Asian	Sub	254	T=0.882	C=0.118
HapMap	Europe	Sub	176	T=0.892	C=0.108
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.853	C=0.147
CNV burdens in cranial meningiomas	Global	Study-wide	792	T=0.788	C=0.212
CNV burdens in cranial meningiomas	CRM	Sub	792	T=0.788	C=0.212
A Vietnamese Genetic Variation Database	Global	Study-wide	616	T=0.859	C=0.141
Northern Sweden	ACPOP	Study-wide	600	T=0.905	C=0.095
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.863	C=0.137
FINRISK	Finnish from FINRISK project	Study-wide	304	T=0.911	C=0.089
Qatari	Global	Study-wide	216	T=0.889	C=0.111
SGDP_PRJ	Global	Study-wide	138	T=0.471	C=0.529
The Danish reference pan genome	Danish	Study-wide	40	T=0.88	C=0.12
Siberian	Global	Study-wide	18	T=0.50	C=0.50
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	4	T=1.0	C=0.0

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 12	NC_000012.12:g.40294893T>C
GRCh37.p13 chr 12	NC_000012.11:g.40688695T>C
LRRK2 RefSeqGene	NG_011709.1:g.74883T>C

Gene: LRRK2, leucine rich repeat kinase 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LRRK2 transcript	NM_198578.4:c.2857T>C	L [TTA] > L [CTA]	Coding Sequence Variant
leucine-rich repeat serine/threonine-protein kinase 2	NP_940980.4:p.Leu953=	L (Leu) > L (Leu)	Synonymous Variant
LRRK2 transcript variant X10	XM_017018787.2:c.-10=	N/A	5 Prime UTR Variant
LRRK2 transcript variant X1	XM_005268629.5:c.2857T>C	L [TTA] > L [CTA]	Coding Sequence Variant
leucine-rich repeat serine/threonine-protein kinase 2 isoform X1	XP_005268686.1:p.Leu953=	L (Leu) > L (Leu)	Synonymous Variant
LRRK2 transcript variant X2	XM_011537877.4:c.2857T>C	L [TTA] > L [CTA]	Coding Sequence Variant
leucine-rich repeat serine/threonine-protein kinase 2 isoform X2	XP_011536179.1:p.Leu953=	L (Leu) > L (Leu)	Synonymous Variant
LRRK2 transcript variant X3	XM_047428277.1:c.2857T>C	L [TTA] > L [CTA]	Coding Sequence Variant
leucine-rich repeat serine/threonine-protein kinase 2 isoform X3	XP_047284233.1:p.Leu953=	L (Leu) > L (Leu)	Synonymous Variant
LRRK2 transcript variant X5	XM_047428278.1:c.2857T>C	L [TTA] > L [CTA]	Coding Sequence Variant
leucine-rich repeat serine/threonine-protein kinase 2 isoform X4	XP_047284234.1:p.Leu953=	L (Leu) > L (Leu)	Synonymous Variant
LRRK2 transcript variant X6	XM_024448833.2:c.1654T>C	L [TTA] > L [CTA]	Coding Sequence Variant
leucine-rich repeat serine/threonine-protein kinase 2 isoform X5	XP_024304601.1:p.Leu552=	L (Leu) > L (Leu)	Synonymous Variant
LRRK2 transcript variant X7	XM_047428279.1:c.2857T>C	L [TTA] > L [CTA]	Coding Sequence Variant
leucine-rich repeat serine/threonine-protein kinase 2 isoform X6	XP_047284235.1:p.Leu953=	L (Leu) > L (Leu)	Synonymous Variant
LRRK2 transcript variant X8	XM_011537881.4:c.2857T>C	L [TTA] > L [CTA]	Coding Sequence Variant
leucine-rich repeat serine/threonine-protein kinase 2 isoform X7	XP_011536183.1:p.Leu953=	L (Leu) > L (Leu)	Synonymous Variant
LRRK2 transcript variant X9	XM_017018786.3:c.2857T>C	L [TTA] > L [CTA]	Coding Sequence Variant
leucine-rich repeat serine/threonine-protein kinase 2 isoform X8	XP_016874275.1:p.Leu953=	L (Leu) > L (Leu)	Synonymous Variant
LRRK2 transcript variant X11	XM_011537882.4:c.2857T>C	L [TTA] > L [CTA]	Coding Sequence Variant
leucine-rich repeat serine/threonine-protein kinase 2 isoform X10	XP_011536184.1:p.Leu953=	L (Leu) > L (Leu)	Synonymous Variant
LRRK2 transcript variant X4	XR_007063041.1:n.2992T>C	N/A	Non Coding 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: C (allele ID: 47762 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000032430.9	Autosomal dominant Parkinson disease 8	Benign
RCV000712238.2	not provided	Benign
RCV001579630.2	not specified	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	T=	C
GRCh38.p14 chr 12	NC_000012.12:g.40294893=	NC_000012.12:g.40294893T>C
GRCh37.p13 chr 12	NC_000012.11:g.40688695=	NC_000012.11:g.40688695T>C
LRRK2 RefSeqGene	NG_011709.1:g.74883=	NG_011709.1:g.74883T>C
LRRK2 transcript	NM_198578.4:c.2857=	NM_198578.4:c.2857T>C
LRRK2 transcript	NM_198578.3:c.2857=	NM_198578.3:c.2857T>C
LRRK2 transcript variant X1	XM_005268629.5:c.2857=	XM_005268629.5:c.2857T>C
LRRK2 transcript variant X1	XM_005268629.4:c.2857=	XM_005268629.4:c.2857T>C
LRRK2 transcript variant X1	XM_005268629.3:c.2857=	XM_005268629.3:c.2857T>C
LRRK2 transcript variant X1	XM_005268629.2:c.2857=	XM_005268629.2:c.2857T>C
LRRK2 transcript variant X1	XM_005268629.1:c.2857=	XM_005268629.1:c.2857T>C
LRRK2 transcript variant X2	XM_011537877.4:c.2857=	XM_011537877.4:c.2857T>C
LRRK2 transcript variant X2	XM_011537877.3:c.2857=	XM_011537877.3:c.2857T>C
LRRK2 transcript variant X2	XM_011537877.2:c.2857=	XM_011537877.2:c.2857T>C
LRRK2 transcript variant X2	XM_011537877.1:c.2857=	XM_011537877.1:c.2857T>C
LRRK2 transcript variant X8	XM_011537881.4:c.2857=	XM_011537881.4:c.2857T>C
LRRK2 transcript variant X5	XM_011537881.3:c.2857=	XM_011537881.3:c.2857T>C
LRRK2 transcript variant X4	XM_011537881.2:c.2857=	XM_011537881.2:c.2857T>C
LRRK2 transcript variant X6	XM_011537881.1:c.2857=	XM_011537881.1:c.2857T>C
LRRK2 transcript variant X11	XM_011537882.4:c.2857=	XM_011537882.4:c.2857T>C
LRRK2 transcript variant X9	XM_011537882.3:c.2857=	XM_011537882.3:c.2857T>C
LRRK2 transcript variant X8	XM_011537882.2:c.2857=	XM_011537882.2:c.2857T>C
LRRK2 transcript variant X7	XM_011537882.1:c.2857=	XM_011537882.1:c.2857T>C
LRRK2 transcript variant X9	XM_017018786.3:c.2857=	XM_017018786.3:c.2857T>C
LRRK2 transcript variant X6	XM_017018786.2:c.2857=	XM_017018786.2:c.2857T>C
LRRK2 transcript variant X5	XM_017018786.1:c.2857=	XM_017018786.1:c.2857T>C
LRRK2 transcript variant X6	XM_024448833.2:c.1654=	XM_024448833.2:c.1654T>C
LRRK2 transcript variant X3	XM_024448833.1:c.1654=	XM_024448833.1:c.1654T>C
LRRK2 transcript variant X10	XM_017018787.2:c.-10=	XM_017018787.2:c.-10T>C
LRRK2 transcript variant X7	XM_017018787.1:c.-10=	XM_017018787.1:c.-10T>C
LRRK2 transcript variant X4	XR_007063041.1:n.2992=	XR_007063041.1:n.2992T>C
LRRK2 transcript variant X3	XM_047428277.1:c.2857=	XM_047428277.1:c.2857T>C
LRRK2 transcript variant X5	XM_047428278.1:c.2857=	XM_047428278.1:c.2857T>C
LRRK2 transcript variant X7	XM_047428279.1:c.2857=	XM_047428279.1:c.2857T>C
leucine-rich repeat serine/threonine-protein kinase 2	NP_940980.4:p.Leu953=	NP_940980.4:p.Leu953=
leucine-rich repeat serine/threonine-protein kinase 2 isoform X1	XP_005268686.1:p.Leu953=	XP_005268686.1:p.Leu953=
leucine-rich repeat serine/threonine-protein kinase 2 isoform X2	XP_011536179.1:p.Leu953=	XP_011536179.1:p.Leu953=
leucine-rich repeat serine/threonine-protein kinase 2 isoform X7	XP_011536183.1:p.Leu953=	XP_011536183.1:p.Leu953=
leucine-rich repeat serine/threonine-protein kinase 2 isoform X10	XP_011536184.1:p.Leu953=	XP_011536184.1:p.Leu953=
leucine-rich repeat serine/threonine-protein kinase 2 isoform X8	XP_016874275.1:p.Leu953=	XP_016874275.1:p.Leu953=
leucine-rich repeat serine/threonine-protein kinase 2 isoform X5	XP_024304601.1:p.Leu552=	XP_024304601.1:p.Leu552=
leucine-rich repeat serine/threonine-protein kinase 2 isoform X3	XP_047284233.1:p.Leu953=	XP_047284233.1:p.Leu953=
leucine-rich repeat serine/threonine-protein kinase 2 isoform X4	XP_047284234.1:p.Leu953=	XP_047284234.1:p.Leu953=
leucine-rich repeat serine/threonine-protein kinase 2 isoform X6	XP_047284235.1:p.Leu953=	XP_047284235.1:p.Leu953=
leucine-rich repeat serine/threonine-protein kinase 2	NP_940980.3:p.Leu953=	NP_940980.3:p.Leu953=

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#.

146 SubSNP, 29 Frequency, 3 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss12200829	Jul 11, 2003 (116)
2	SC_SNP	ss16299278	Feb 27, 2004 (120)
3	CSHL-HAPMAP	ss16591635	Feb 27, 2004 (120)
4	BCM-HGSC	ss28465288	Sep 20, 2004 (126)
5	BCM-HGSC	ss28468621	Sep 20, 2004 (126)
6	BCM-HGSC	ss32471769	May 24, 2005 (125)
7	ZABETIAN-UW-NGEN	ss52049491	Mar 16, 2006 (126)
8	ILLUMINA	ss67853888	Nov 29, 2006 (127)
9	ILLUMINA	ss68005561	Nov 29, 2006 (127)
10	ILLUMINA	ss68291663	Dec 12, 2006 (127)
11	ILLUMINA	ss70961498	May 25, 2008 (130)
12	ILLUMINA	ss71570132	May 16, 2007 (127)
13	CANCER-GENOME	ss74801428	Dec 06, 2007 (129)
14	AFFY	ss74844290	Aug 16, 2007 (128)
15	ILLUMINA	ss75675768	Dec 06, 2007 (129)
16	HGSV	ss83887287	Dec 15, 2007 (130)
17	KRIBB_YJKIM	ss84759753	Dec 15, 2007 (130)
18	BCMHGSC_JDW	ss89104546	Mar 24, 2008 (129)
19	SHGC	ss99307858	Feb 05, 2009 (130)
20	ENSEMBL	ss133126212	Dec 01, 2009 (131)
21	ILLUMINA	ss154459581	Dec 01, 2009 (131)
22	ILLUMINA	ss159634191	Dec 01, 2009 (131)
23	SEATTLESEQ	ss159726050	Dec 01, 2009 (131)
24	ILLUMINA	ss160934263	Dec 01, 2009 (131)
25	ENSEMBL	ss161523902	Dec 01, 2009 (131)
26	ILLUMINA	ss174643941	Jul 04, 2010 (132)
27	BCM-HGSC-SUB	ss208205299	Jul 04, 2010 (132)
28	1000GENOMES	ss235905668	Jul 15, 2010 (132)
29	1000GENOMES	ss242468702	Jul 15, 2010 (132)
30	BL	ss255058585	May 09, 2011 (134)
31	GMI	ss281363876	May 04, 2012 (137)
32	PJP	ss291425526	May 09, 2011 (134)
33	NHLBI-ESP	ss342353194	May 09, 2011 (134)
34	GSK-GENETICS	ss475884125	May 04, 2012 (137)
35	ILLUMINA	ss481734731	May 04, 2012 (137)
36	ILLUMINA	ss481766370	May 04, 2012 (137)
37	ILLUMINA	ss482731364	Sep 08, 2015 (146)
38	ILLUMINA	ss485662116	May 04, 2012 (137)
39	1000GENOMES	ss491039972	May 04, 2012 (137)
40	CLINSEQ_SNP	ss491663112	May 04, 2012 (137)
41	ILLUMINA	ss537537245	Sep 08, 2015 (146)
42	GENEREVIEWS	ss550896554	Nov 02, 2012 (137)
43	SSMP	ss658665414	Apr 25, 2013 (138)
44	ILLUMINA	ss778621458	Aug 21, 2014 (142)
45	ILLUMINA	ss783276621	Aug 21, 2014 (142)
46	ILLUMINA	ss784229696	Aug 21, 2014 (142)
47	ILLUMINA	ss832537715	Apr 01, 2015 (144)
48	ILLUMINA	ss833145065	Aug 21, 2014 (142)
49	ILLUMINA	ss833735893	Aug 21, 2014 (142)
50	ILLUMINA	ss834078965	Aug 21, 2014 (142)
51	EVA-GONL	ss989451801	Aug 21, 2014 (142)
52	JMKIDD_LAB	ss1067532910	Aug 21, 2014 (142)
53	JMKIDD_LAB	ss1078402460	Aug 21, 2014 (142)
54	1000GENOMES	ss1344700574	Aug 21, 2014 (142)
55	DDI	ss1426910074	Apr 01, 2015 (144)
56	EVA_GENOME_DK	ss1576235132	Apr 01, 2015 (144)
57	EVA_FINRISK	ss1584081217	Apr 01, 2015 (144)
58	EVA_DECODE	ss1599119105	Apr 01, 2015 (144)
59	EVA_UK10K_ALSPAC	ss1628428160	Apr 01, 2015 (144)
60	EVA_UK10K_TWINSUK	ss1671422193	Apr 01, 2015 (144)
61	EVA_EXAC	ss1690854317	Apr 01, 2015 (144)
62	EVA_MGP	ss1711326478	Apr 01, 2015 (144)
63	EVA_SVP	ss1713321756	Apr 01, 2015 (144)
64	ILLUMINA	ss1752066443	Sep 08, 2015 (146)
65	WEILL_CORNELL_DGM	ss1932815649	Feb 12, 2016 (147)
66	ILLUMINA	ss1959428500	Feb 12, 2016 (147)
67	JJLAB	ss2027158319	Sep 14, 2016 (149)
68	ILLUMINA	ss2094873045	Dec 20, 2016 (150)
69	ILLUMINA	ss2095033897	Dec 20, 2016 (150)
70	ILLUMINA	ss2095033898	Dec 20, 2016 (150)
71	USC_VALOUEV	ss2155491387	Dec 20, 2016 (150)
72	HUMAN_LONGEVITY	ss2189136961	Dec 20, 2016 (150)
73	ILLUMINA	ss2632949759	Nov 08, 2017 (151)
74	GRF	ss2699830642	Nov 08, 2017 (151)
75	GNOMAD	ss2739730790	Nov 08, 2017 (151)
76	GNOMAD	ss2748841968	Nov 08, 2017 (151)
77	GNOMAD	ss2909598457	Nov 08, 2017 (151)
78	AFFY	ss2985614994	Nov 08, 2017 (151)
79	SWEGEN	ss3009554726	Nov 08, 2017 (151)
80	ILLUMINA	ss3021423218	Nov 08, 2017 (151)
81	BIOINF_KMB_FNS_UNIBA	ss3027387258	Nov 08, 2017 (151)
82	CSHL	ss3350027493	Nov 08, 2017 (151)
83	ILLUMINA	ss3626859410	Oct 12, 2018 (152)
84	ILLUMINA	ss3630959682	Oct 12, 2018 (152)
85	ILLUMINA	ss3633017747	Oct 12, 2018 (152)
86	ILLUMINA	ss3633718556	Oct 12, 2018 (152)
87	ILLUMINA	ss3634500379	Oct 12, 2018 (152)
88	ILLUMINA	ss3635409393	Oct 12, 2018 (152)
89	ILLUMINA	ss3636185815	Oct 12, 2018 (152)
90	ILLUMINA	ss3637160369	Oct 12, 2018 (152)
91	ILLUMINA	ss3637958331	Oct 12, 2018 (152)
92	ILLUMINA	ss3638993266	Oct 12, 2018 (152)
93	ILLUMINA	ss3639807306	Oct 12, 2018 (152)
94	ILLUMINA	ss3640207712	Oct 12, 2018 (152)
95	ILLUMINA	ss3642952344	Oct 12, 2018 (152)
96	ILLUMINA	ss3643858896	Oct 12, 2018 (152)
97	OMUKHERJEE_ADBS	ss3646440758	Oct 12, 2018 (152)
98	ILLUMINA	ss3651798915	Oct 12, 2018 (152)
99	ILLUMINA	ss3651798916	Oct 12, 2018 (152)
100	EGCUT_WGS	ss3676830322	Jul 13, 2019 (153)
101	EVA_DECODE	ss3693516113	Jul 13, 2019 (153)
102	ILLUMINA	ss3725318221	Jul 13, 2019 (153)
103	ACPOP	ss3738951199	Jul 13, 2019 (153)
104	ILLUMINA	ss3744801079	Jul 13, 2019 (153)
105	EVA	ss3750382881	Jul 13, 2019 (153)
106	PAGE_CC	ss3771685735	Jul 13, 2019 (153)
107	ILLUMINA	ss3772300582	Jul 13, 2019 (153)
108	PACBIO	ss3787204811	Jul 13, 2019 (153)
109	PACBIO	ss3792310335	Jul 13, 2019 (153)
110	PACBIO	ss3797193072	Jul 13, 2019 (153)
111	KHV_HUMAN_GENOMES	ss3815711951	Jul 13, 2019 (153)
112	EVA	ss3824718473	Apr 27, 2020 (154)
113	EVA	ss3825819127	Apr 27, 2020 (154)
114	EVA	ss3833082313	Apr 27, 2020 (154)
115	HGDP	ss3847448326	Apr 27, 2020 (154)
116	SGDP_PRJ	ss3878110402	Apr 27, 2020 (154)
117	KRGDB	ss3926715375	Apr 27, 2020 (154)
118	KOGIC	ss3971769415	Apr 27, 2020 (154)
119	FSA-LAB	ss3984025516	Apr 25, 2021 (155)
120	EVA	ss3984665549	Apr 25, 2021 (155)
121	EVA	ss3985586464	Apr 25, 2021 (155)
122	EVA	ss3986565273	Apr 25, 2021 (155)
123	EVA	ss4017584560	Apr 25, 2021 (155)
124	TOPMED	ss4915522327	Apr 25, 2021 (155)
125	TOMMO_GENOMICS	ss5205956105	Apr 25, 2021 (155)
126	EVA	ss5236904242	Apr 25, 2021 (155)
127	EVA	ss5237659764	Oct 16, 2022 (156)
128	1000G_HIGH_COVERAGE	ss5290530074	Oct 16, 2022 (156)
129	TRAN_CS_UWATERLOO	ss5314435122	Oct 16, 2022 (156)
130	EVA	ss5315615220	Oct 16, 2022 (156)
131	EVA	ss5405139506	Oct 16, 2022 (156)
132	HUGCELL_USP	ss5485318187	Oct 16, 2022 (156)
133	EVA	ss5510671227	Oct 16, 2022 (156)
134	1000G_HIGH_COVERAGE	ss5587880609	Oct 16, 2022 (156)
135	EVA	ss5624031144	Oct 16, 2022 (156)
136	SANFORD_IMAGENETICS	ss5652995925	Oct 16, 2022 (156)
137	TOMMO_GENOMICS	ss5755639191	Oct 16, 2022 (156)
138	EVA	ss5799446993	Oct 16, 2022 (156)
139	EVA	ss5799870011	Oct 16, 2022 (156)
140	EVA	ss5800176246	Oct 16, 2022 (156)
141	YY_MCH	ss5813227349	Oct 16, 2022 (156)
142	EVA	ss5837861420	Oct 16, 2022 (156)
143	EVA	ss5848349683	Oct 16, 2022 (156)
144	EVA	ss5850346233	Oct 16, 2022 (156)
145	EVA	ss5904076816	Oct 16, 2022 (156)
146	EVA	ss5944353519	Oct 16, 2022 (156)
147	1000Genomes	NC_000012.11 - 40688695	Oct 12, 2018 (152)
148	1000Genomes_30x	NC_000012.12 - 40294893	Oct 16, 2022 (156)
149	The Avon Longitudinal Study of Parents and Children	NC_000012.11 - 40688695	Oct 12, 2018 (152)
150	Genetic variation in the Estonian population	NC_000012.11 - 40688695	Oct 12, 2018 (152)
151	ExAC	NC_000012.11 - 40688695	Oct 12, 2018 (152)
152	FINRISK	NC_000012.11 - 40688695	Apr 27, 2020 (154)
153	The Danish reference pan genome	NC_000012.11 - 40688695	Apr 27, 2020 (154)
154	gnomAD - Genomes	NC_000012.12 - 40294893	Apr 25, 2021 (155)
155	gnomAD - Exomes	NC_000012.11 - 40688695	Jul 13, 2019 (153)
156	GO Exome Sequencing Project	NC_000012.11 - 40688695	Oct 12, 2018 (152)
157	Genome of the Netherlands Release 5	NC_000012.11 - 40688695	Apr 27, 2020 (154)
158	HGDP-CEPH-db Supplement 1	NC_000012.10 - 38974962	Apr 27, 2020 (154)
159	HapMap	NC_000012.12 - 40294893	Apr 27, 2020 (154)
160	KOREAN population from KRGDB	NC_000012.11 - 40688695	Apr 27, 2020 (154)
161	Korean Genome Project	NC_000012.12 - 40294893	Apr 27, 2020 (154)
162	Medical Genome Project healthy controls from Spanish population	NC_000012.11 - 40688695	Apr 27, 2020 (154)
163	Northern Sweden	NC_000012.11 - 40688695	Jul 13, 2019 (153)
164	The PAGE Study	NC_000012.12 - 40294893	Jul 13, 2019 (153)
165	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000012.11 - 40688695	Apr 25, 2021 (155)
166	CNV burdens in cranial meningiomas	NC_000012.11 - 40688695	Apr 25, 2021 (155)
167	Qatari	NC_000012.11 - 40688695	Apr 27, 2020 (154)
168	SGDP_PRJ	NC_000012.11 - 40688695	Apr 27, 2020 (154)
169	Siberian	NC_000012.11 - 40688695	Apr 27, 2020 (154)
170	8.3KJPN	NC_000012.11 - 40688695	Apr 25, 2021 (155)
171	14KJPN	NC_000012.12 - 40294893	Oct 16, 2022 (156)
172	TopMed	NC_000012.12 - 40294893	Apr 25, 2021 (155)
173	UK 10K study - Twins	NC_000012.11 - 40688695	Oct 12, 2018 (152)
174	A Vietnamese Genetic Variation Database	NC_000012.11 - 40688695	Jul 13, 2019 (153)
175	ALFA	NC_000012.12 - 40294893	Apr 25, 2021 (155)
176	ClinVar	RCV000032430.9	Oct 16, 2022 (156)
177	ClinVar	RCV000712238.2	Oct 16, 2022 (156)
178	ClinVar	RCV001579630.2	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)
rs17443808	Mar 10, 2006 (126)
rs17484279	Mar 10, 2006 (126)
rs36220741	Oct 25, 2006 (127)
rs52795354	Sep 21, 2007 (128)
rs59472097	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss83887287, ss3638993266, ss3639807306, ss3643858896	NC_000012.9:38974961:T:C	NC_000012.12:40294892:T:C	(self)
126218, ss89104546, ss160934263, ss208205299, ss255058585, ss281363876, ss291425526, ss475884125, ss481734731, ss491663112, ss1599119105, ss1713321756, ss2094873045, ss3642952344, ss3847448326	NC_000012.10:38974961:T:C	NC_000012.12:40294892:T:C	(self)
57437615, 31895410, 22568570, 1147673, 77678, 2931846, 8959827, 1175959, 14234537, 33892769, 442238, 12236064, 812391, 215041, 14857579, 30127382, 8007741, 63925412, 31895410, 7078303, ss235905668, ss242468702, ss342353194, ss481766370, ss482731364, ss485662116, ss491039972, ss537537245, ss658665414, ss778621458, ss783276621, ss784229696, ss832537715, ss833145065, ss833735893, ss834078965, ss989451801, ss1067532910, ss1078402460, ss1344700574, ss1426910074, ss1576235132, ss1584081217, ss1628428160, ss1671422193, ss1690854317, ss1711326478, ss1752066443, ss1932815649, ss1959428500, ss2027158319, ss2095033897, ss2095033898, ss2155491387, ss2632949759, ss2699830642, ss2739730790, ss2748841968, ss2909598457, ss2985614994, ss3009554726, ss3021423218, ss3350027493, ss3626859410, ss3630959682, ss3633017747, ss3633718556, ss3634500379, ss3635409393, ss3636185815, ss3637160369, ss3637958331, ss3640207712, ss3646440758, ss3651798915, ss3651798916, ss3676830322, ss3738951199, ss3744801079, ss3750382881, ss3772300582, ss3787204811, ss3792310335, ss3797193072, ss3824718473, ss3825819127, ss3833082313, ss3878110402, ss3926715375, ss3984025516, ss3984665549, ss3985586464, ss3986565273, ss4017584560, ss5205956105, ss5315615220, ss5405139506, ss5510671227, ss5624031144, ss5652995925, ss5799446993, ss5799870011, ss5800176246, ss5837861420, ss5848349683, ss5944353519	NC_000012.11:40688694:T:C	NC_000012.12:40294892:T:C	(self)
RCV000032430.9, RCV000712238.2, RCV001579630.2, 75406544, 405032782, 798600, 28147416, 907204, 89476295, 131067984, 17205232353, ss550896554, ss2189136961, ss3027387258, ss3693516113, ss3725318221, ss3771685735, ss3815711951, ss3971769415, ss4915522327, ss5236904242, ss5237659764, ss5290530074, ss5314435122, ss5485318187, ss5587880609, ss5755639191, ss5813227349, ss5850346233, ss5904076816	NC_000012.12:40294892:T:C	NC_000012.12:40294892:T:C	(self)
ss12200829, ss16299278, ss16591635	NT_029419.10:2832000:T:C	NC_000012.12:40294892:T:C	(self)
ss28465288, ss28468621, ss32471769, ss52049491, ss67853888, ss68005561, ss68291663, ss70961498, ss71570132, ss74801428, ss74844290, ss75675768, ss84759753, ss99307858, ss133126212, ss154459581, ss159634191, ss159726050, ss161523902, ss174643941	NT_029419.12:2832000:T:C	NC_000012.12:40294892:T:C	(self)

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

5 citations for rs7966550

PMID	Title	Author	Year	Journal
15726496	Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations.	Kachergus J et al.	2005	American journal of human genetics
16960813	LRRK2 G2019S in families with Parkinson disease who originated from Europe and the Middle East: evidence of two distinct founding events beginning two millennia ago.	Zabetian CP et al.	2006	American journal of human genetics
20301387	LRRK2 Parkinson Disease.	Saunders-Pullman R et al.	1993	GeneReviews(®)
20669299	LRRK2 variation and Parkinson's disease in African Americans.	Ross OA et al.	2010	Movement disorders
21885347	Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.	Ross OA et al.	2011	The Lancet. Neurology

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs7966550