Name: rs2877
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.

rs2877

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:83135109 (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: C=0.281756 (74578/264690, TOPMED)
C=0.244311 (60894/249248, GnomAD_exome)
C=0.293405 (41052/139916, GnomAD) (+ 23 more)
C=0.245359 (29631/120766, ExAC)
C=0.314033 (32991/105056, ALFA)
C=0.22697 (17852/78654, PAGE_STUDY)
C=0.00028 (8/28258, 14KJPN)
C=0.00024 (4/16758, 8.3KJPN)
C=0.31048 (3696/11904, GO-ESP)
C=0.1986 (1272/6404, 1000G_30x)
C=0.1917 (960/5008, 1000G)
C=0.3158 (1415/4480, Estonian)
C=0.3127 (1205/3854, ALSPAC)
C=0.3004 (1114/3708, TWINSUK)
C=0.0020 (6/2930, KOREAN)
C=0.0011 (2/1832, Korea1K)
C=0.291 (290/998, GoNL)
C=0.020 (16/792, PRJEB37584)
C=0.010 (6/614, Vietnamese)
C=0.297 (178/600, NorthernSweden)
C=0.341 (182/534, MGP)
C=0.110 (59/534, SGDP_PRJ)
C=0.258 (84/326, HapMap)
C=0.273 (59/216, Qatari)
C=0.11 (6/54, Siberian)
C=0.28 (11/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: PCLO : Missense Variant
Publications: 1 citation
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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	105056	C=0.314033	G=0.685967, T=0.000000	0.109408	0.481343	0.409248	32
European	Sub	90734	C=0.32430	G=0.67570, T=0.00000	0.111667	0.463068	0.425265	22
African	Sub	2298	C=0.3664	G=0.6336, T=0.0000	0.179286	0.446475	0.374238	23
African Others	Sub	104	C=0.365	G=0.635, T=0.000	0.192308	0.461538	0.346154	2
African American	Sub	2194	C=0.3665	G=0.6335, T=0.0000	0.178669	0.445761	0.37557	22
Asian	Sub	3216	C=0.0012	G=0.9988, T=0.0000	0.0	0.997512	0.002488	0
East Asian	Sub	2584	C=0.0008	G=0.9992, T=0.0000	0.0	0.998452	0.001548	0
Other Asian	Sub	632	C=0.003	G=0.997, T=0.000	0.0	0.993671	0.006329	0
Latin American 1	Sub	654	C=0.294	G=0.706, T=0.000	0.11315	0.525994	0.360856	3
Latin American 2	Sub	362	C=0.276	G=0.724, T=0.000	0.116022	0.563536	0.320442	4
South Asian	Sub	182	C=0.099	G=0.901, T=0.000	0.010989	0.813187	0.175824	0
Other	Sub	7610	C=0.3167	G=0.6833, T=0.0000	0.10933	0.475953	0.414717	4

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=0.281756	G=0.718244
gnomAD - Exomes	Global	Study-wide	249248	C=0.244311	G=0.755689
gnomAD - Exomes	European	Sub	134550	C=0.309090	G=0.690910
gnomAD - Exomes	Asian	Sub	48578	C=0.07030	G=0.92970
gnomAD - Exomes	American	Sub	34526	C=0.16124	G=0.83876
gnomAD - Exomes	African	Sub	15480	C=0.28895	G=0.71105
gnomAD - Exomes	Ashkenazi Jewish	Sub	10062	C=0.41970	G=0.58030
gnomAD - Exomes	Other	Sub	6052	C=0.2690	G=0.7310
gnomAD - Genomes	Global	Study-wide	139916	C=0.293405	G=0.706595
gnomAD - Genomes	European	Sub	75824	C=0.31225	G=0.68775
gnomAD - Genomes	African	Sub	41858	C=0.29239	G=0.70761
gnomAD - Genomes	American	Sub	13634	C=0.22781	G=0.77219
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.4202	G=0.5798
gnomAD - Genomes	East Asian	Sub	3130	C=0.0089	G=0.9911
gnomAD - Genomes	Other	Sub	2150	C=0.2828	G=0.7172
ExAC	Global	Study-wide	120766	C=0.245359	G=0.754641
ExAC	Europe	Sub	73354	C=0.31409	G=0.68591
ExAC	Asian	Sub	25138	C=0.07212	G=0.92788
ExAC	American	Sub	11576	C=0.14668	G=0.85332
ExAC	African	Sub	9800	C=0.2926	G=0.7074
ExAC	Other	Sub	898	C=0.237	G=0.763
Allele Frequency Aggregator	Total	Global	105056	C=0.314033	G=0.685967, T=0.000000
Allele Frequency Aggregator	European	Sub	90734	C=0.32430	G=0.67570, T=0.00000
Allele Frequency Aggregator	Other	Sub	7610	C=0.3167	G=0.6833, T=0.0000
Allele Frequency Aggregator	Asian	Sub	3216	C=0.0012	G=0.9988, T=0.0000
Allele Frequency Aggregator	African	Sub	2298	C=0.3664	G=0.6336, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	654	C=0.294	G=0.706, T=0.000
Allele Frequency Aggregator	Latin American 2	Sub	362	C=0.276	G=0.724, T=0.000
Allele Frequency Aggregator	South Asian	Sub	182	C=0.099	G=0.901, T=0.000
The PAGE Study	Global	Study-wide	78654	C=0.22697	G=0.77303
The PAGE Study	AfricanAmerican	Sub	32486	C=0.29413	G=0.70587
The PAGE Study	Mexican	Sub	10808	C=0.18033	G=0.81967
The PAGE Study	Asian	Sub	8318	C=0.0046	G=0.9954
The PAGE Study	PuertoRican	Sub	7914	C=0.2679	G=0.7321
The PAGE Study	NativeHawaiian	Sub	4532	C=0.0812	G=0.9188
The PAGE Study	Cuban	Sub	4230	C=0.3111	G=0.6889
The PAGE Study	Dominican	Sub	3824	C=0.3266	G=0.6734
The PAGE Study	CentralAmerican	Sub	2450	C=0.2053	G=0.7947
The PAGE Study	SouthAmerican	Sub	1978	C=0.1830	G=0.8170
The PAGE Study	NativeAmerican	Sub	1258	C=0.2536	G=0.7464
The PAGE Study	SouthAsian	Sub	856	C=0.085	G=0.915
14KJPN	JAPANESE	Study-wide	28258	C=0.00028	G=0.99972
8.3KJPN	JAPANESE	Study-wide	16758	C=0.00024	G=0.99976
GO Exome Sequencing Project	Global	Study-wide	11904	C=0.31048	G=0.68952
GO Exome Sequencing Project	European American	Sub	8192	C=0.3193	G=0.6807
GO Exome Sequencing Project	African American	Sub	3712	C=0.2909	G=0.7091
1000Genomes_30x	Global	Study-wide	6404	C=0.1986	G=0.8014
1000Genomes_30x	African	Sub	1786	C=0.3063	G=0.6937
1000Genomes_30x	Europe	Sub	1266	C=0.3144	G=0.6856
1000Genomes_30x	South Asian	Sub	1202	C=0.0890	G=0.9110
1000Genomes_30x	East Asian	Sub	1170	C=0.0077	G=0.9923
1000Genomes_30x	American	Sub	980	C=0.215	G=0.785
1000Genomes	Global	Study-wide	5008	C=0.1917	G=0.8083
1000Genomes	African	Sub	1322	C=0.3064	G=0.6936
1000Genomes	East Asian	Sub	1008	C=0.0069	G=0.9931
1000Genomes	Europe	Sub	1006	C=0.3161	G=0.6839
1000Genomes	South Asian	Sub	978	C=0.080	G=0.920
1000Genomes	American	Sub	694	C=0.219	G=0.781
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.3158	G=0.6842
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.3127	G=0.6873
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.3004	G=0.6996
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.0020	A=0.0000, G=0.9980, T=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	C=0.0011	G=0.9989
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.291	G=0.709
CNV burdens in cranial meningiomas	Global	Study-wide	792	C=0.020	G=0.980
CNV burdens in cranial meningiomas	CRM	Sub	792	C=0.020	G=0.980
A Vietnamese Genetic Variation Database	Global	Study-wide	614	C=0.010	G=0.990
Northern Sweden	ACPOP	Study-wide	600	C=0.297	G=0.703
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.341	G=0.659
SGDP_PRJ	Global	Study-wide	534	C=0.110	G=0.890
HapMap	Global	Study-wide	326	C=0.258	G=0.742
HapMap	African	Sub	120	C=0.417	G=0.583
HapMap	American	Sub	118	C=0.288	G=0.712
HapMap	Asian	Sub	88	C=0.00	G=1.00
Qatari	Global	Study-wide	216	C=0.273	G=0.727
Siberian	Global	Study-wide	54	C=0.11	G=0.89
The Danish reference pan genome	Danish	Study-wide	40	C=0.28	G=0.72

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 7	NC_000007.14:g.83135109C>A
GRCh38.p14 chr 7	NC_000007.14:g.83135109C>G
GRCh38.p14 chr 7	NC_000007.14:g.83135109C>T
GRCh37.p13 chr 7	NC_000007.13:g.82764425C>A
GRCh37.p13 chr 7	NC_000007.13:g.82764425C>G
GRCh37.p13 chr 7	NC_000007.13:g.82764425C>T
PCLO RefSeqGene	NG_047145.1:g.32773G>T
PCLO RefSeqGene	NG_047145.1:g.32773G>C
PCLO RefSeqGene	NG_047145.1:g.32773G>A

Gene: PCLO, piccolo presynaptic cytomatrix protein (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PCLO transcript variant 1	NM_033026.6:c.2441G>T	S [AGC] > I [ATC]	Coding Sequence Variant
protein piccolo isoform 1	NP_149015.2:p.Ser814Ile	S (Ser) > I (Ile)	Missense Variant
PCLO transcript variant 1	NM_033026.6:c.2441G>C	S [AGC] > T [ACC]	Coding Sequence Variant
protein piccolo isoform 1	NP_149015.2:p.Ser814Thr	S (Ser) > T (Thr)	Missense Variant
PCLO transcript variant 1	NM_033026.6:c.2441G>A	S [AGC] > N [AAC]	Coding Sequence Variant
protein piccolo isoform 1	NP_149015.2:p.Ser814Asn	S (Ser) > N (Asn)	Missense Variant
PCLO transcript variant 2	NM_014510.3:c.2441G>T	S [AGC] > I [ATC]	Coding Sequence Variant
protein piccolo isoform 2	NP_055325.2:p.Ser814Ile	S (Ser) > I (Ile)	Missense Variant
PCLO transcript variant 2	NM_014510.3:c.2441G>C	S [AGC] > T [ACC]	Coding Sequence Variant
protein piccolo isoform 2	NP_055325.2:p.Ser814Thr	S (Ser) > T (Thr)	Missense Variant
PCLO transcript variant 2	NM_014510.3:c.2441G>A	S [AGC] > N [AAC]	Coding Sequence Variant
protein piccolo isoform 2	NP_055325.2:p.Ser814Asn	S (Ser) > N (Asn)	Missense Variant
PCLO transcript variant X1	XM_047420210.1:c.2441G>T	S [AGC] > I [ATC]	Coding Sequence Variant
protein piccolo isoform X1	XP_047276166.1:p.Ser814Ile	S (Ser) > I (Ile)	Missense Variant
PCLO transcript variant X1	XM_047420210.1:c.2441G>C	S [AGC] > T [ACC]	Coding Sequence Variant
protein piccolo isoform X1	XP_047276166.1:p.Ser814Thr	S (Ser) > T (Thr)	Missense Variant
PCLO transcript variant X1	XM_047420210.1:c.2441G>A	S [AGC] > N [AAC]	Coding Sequence Variant
protein piccolo isoform X1	XP_047276166.1:p.Ser814Asn	S (Ser) > N (Asn)	Missense Variant
PCLO transcript variant X2	XM_047420211.1:c.2441G>T	S [AGC] > I [ATC]	Coding Sequence Variant
protein piccolo isoform X2	XP_047276167.1:p.Ser814Ile	S (Ser) > I (Ile)	Missense Variant
PCLO transcript variant X2	XM_047420211.1:c.2441G>C	S [AGC] > T [ACC]	Coding Sequence Variant
protein piccolo isoform X2	XP_047276167.1:p.Ser814Thr	S (Ser) > T (Thr)	Missense Variant
PCLO transcript variant X2	XM_047420211.1:c.2441G>A	S [AGC] > N [AAC]	Coding Sequence Variant
protein piccolo isoform X2	XP_047276167.1:p.Ser814Asn	S (Ser) > N (Asn)	Missense Variant
PCLO transcript variant X3	XM_047420212.1:c.2441G>T	S [AGC] > I [ATC]	Coding Sequence Variant
protein piccolo isoform X3	XP_047276168.1:p.Ser814Ile	S (Ser) > I (Ile)	Missense Variant
PCLO transcript variant X3	XM_047420212.1:c.2441G>C	S [AGC] > T [ACC]	Coding Sequence Variant
protein piccolo isoform X3	XP_047276168.1:p.Ser814Thr	S (Ser) > T (Thr)	Missense Variant
PCLO transcript variant X3	XM_047420212.1:c.2441G>A	S [AGC] > N [AAC]	Coding Sequence Variant
protein piccolo isoform X3	XP_047276168.1:p.Ser814Asn	S (Ser) > N (Asn)	Missense Variant
PCLO transcript variant X4	XM_047420213.1:c.2441G>T	S [AGC] > I [ATC]	Coding Sequence Variant
protein piccolo isoform X4	XP_047276169.1:p.Ser814Ile	S (Ser) > I (Ile)	Missense Variant
PCLO transcript variant X4	XM_047420213.1:c.2441G>C	S [AGC] > T [ACC]	Coding Sequence Variant
protein piccolo isoform X4	XP_047276169.1:p.Ser814Thr	S (Ser) > T (Thr)	Missense Variant
PCLO transcript variant X4	XM_047420213.1:c.2441G>A	S [AGC] > N [AAC]	Coding Sequence Variant
protein piccolo isoform X4	XP_047276169.1:p.Ser814Asn	S (Ser) > N (Asn)	Missense Variant
PCLO transcript variant X5	XM_017012006.3:c.2441G>T	S [AGC] > I [ATC]	Coding Sequence Variant
protein piccolo isoform X5	XP_016867495.1:p.Ser814Ile	S (Ser) > I (Ile)	Missense Variant
PCLO transcript variant X5	XM_017012006.3:c.2441G>C	S [AGC] > T [ACC]	Coding Sequence Variant
protein piccolo isoform X5	XP_016867495.1:p.Ser814Thr	S (Ser) > T (Thr)	Missense Variant
PCLO transcript variant X5	XM_017012006.3:c.2441G>A	S [AGC] > N [AAC]	Coding Sequence Variant
protein piccolo isoform X5	XP_016867495.1:p.Ser814Asn	S (Ser) > N (Asn)	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: G (allele ID: 1260815 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001680484.4	not provided	Benign
RCV001699595.3	not specified	Benign
RCV001788758.2	Pontocerebellar hypoplasia type 3	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 7	NC_000007.14:g.83135109=	NC_000007.14:g.83135109C>A	NC_000007.14:g.83135109C>G	NC_000007.14:g.83135109C>T
GRCh37.p13 chr 7	NC_000007.13:g.82764425=	NC_000007.13:g.82764425C>A	NC_000007.13:g.82764425C>G	NC_000007.13:g.82764425C>T
PCLO RefSeqGene	NG_047145.1:g.32773=	NG_047145.1:g.32773G>T	NG_047145.1:g.32773G>C	NG_047145.1:g.32773G>A
PCLO transcript variant 1	NM_033026.6:c.2441=	NM_033026.6:c.2441G>T	NM_033026.6:c.2441G>C	NM_033026.6:c.2441G>A
PCLO transcript variant 1	NM_033026.5:c.2441=	NM_033026.5:c.2441G>T	NM_033026.5:c.2441G>C	NM_033026.5:c.2441G>A
PCLO transcript variant 2	NM_014510.3:c.2441=	NM_014510.3:c.2441G>T	NM_014510.3:c.2441G>C	NM_014510.3:c.2441G>A
PCLO transcript variant 2	NM_014510.2:c.2441=	NM_014510.2:c.2441G>T	NM_014510.2:c.2441G>C	NM_014510.2:c.2441G>A
PCLO transcript variant X5	XM_017012006.3:c.2441=	XM_017012006.3:c.2441G>T	XM_017012006.3:c.2441G>C	XM_017012006.3:c.2441G>A
PCLO transcript variant X2	XM_017012006.2:c.2441=	XM_017012006.2:c.2441G>T	XM_017012006.2:c.2441G>C	XM_017012006.2:c.2441G>A
PCLO transcript variant X2	XM_017012006.1:c.2441=	XM_017012006.1:c.2441G>T	XM_017012006.1:c.2441G>C	XM_017012006.1:c.2441G>A
PCLO transcript variant X1	XM_047420210.1:c.2441=	XM_047420210.1:c.2441G>T	XM_047420210.1:c.2441G>C	XM_047420210.1:c.2441G>A
PCLO transcript variant X2	XM_047420211.1:c.2441=	XM_047420211.1:c.2441G>T	XM_047420211.1:c.2441G>C	XM_047420211.1:c.2441G>A
PCLO transcript variant X3	XM_047420212.1:c.2441=	XM_047420212.1:c.2441G>T	XM_047420212.1:c.2441G>C	XM_047420212.1:c.2441G>A
PCLO transcript variant X4	XM_047420213.1:c.2441=	XM_047420213.1:c.2441G>T	XM_047420213.1:c.2441G>C	XM_047420213.1:c.2441G>A
protein piccolo isoform 1	NP_149015.2:p.Ser814=	NP_149015.2:p.Ser814Ile	NP_149015.2:p.Ser814Thr	NP_149015.2:p.Ser814Asn
protein piccolo isoform 2	NP_055325.2:p.Ser814=	NP_055325.2:p.Ser814Ile	NP_055325.2:p.Ser814Thr	NP_055325.2:p.Ser814Asn
protein piccolo isoform X5	XP_016867495.1:p.Ser814=	XP_016867495.1:p.Ser814Ile	XP_016867495.1:p.Ser814Thr	XP_016867495.1:p.Ser814Asn
protein piccolo isoform X1	XP_047276166.1:p.Ser814=	XP_047276166.1:p.Ser814Ile	XP_047276166.1:p.Ser814Thr	XP_047276166.1:p.Ser814Asn
protein piccolo isoform X2	XP_047276167.1:p.Ser814=	XP_047276167.1:p.Ser814Ile	XP_047276167.1:p.Ser814Thr	XP_047276167.1:p.Ser814Asn
protein piccolo isoform X3	XP_047276168.1:p.Ser814=	XP_047276168.1:p.Ser814Ile	XP_047276168.1:p.Ser814Thr	XP_047276168.1:p.Ser814Asn
protein piccolo isoform X4	XP_047276169.1:p.Ser814=	XP_047276169.1:p.Ser814Ile	XP_047276169.1:p.Ser814Thr	XP_047276169.1:p.Ser814Asn

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#.

132 SubSNP, 26 Frequency, 3 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	WIAF	ss2908	Sep 19, 2000 (36)
2	BCM_SSAHASNP	ss10397802	Jul 11, 2003 (116)
3	CSHL-HAPMAP	ss17918763	Feb 27, 2004 (120)
4	SSAHASNP	ss22549735	Apr 05, 2004 (121)
5	SSAHASNP	ss22927303	Apr 05, 2004 (121)
6	ILLUMINA	ss65727238	Oct 15, 2006 (127)
7	PERLEGEN	ss69020644	May 17, 2007 (127)
8	AFFY	ss74810070	Aug 16, 2007 (128)
9	HGSV	ss79911540	Dec 14, 2007 (130)
10	HGSV	ss83301091	Dec 14, 2007 (130)
11	CORNELL	ss86237785	Mar 23, 2008 (129)
12	BCMHGSC_JDW	ss93717099	Mar 24, 2008 (129)
13	HUMANGENOME_JCVI	ss98165992	Feb 04, 2009 (130)
14	BGI	ss105553326	Feb 04, 2009 (130)
15	1000GENOMES	ss112270782	Jan 25, 2009 (130)
16	1000GENOMES	ss114012945	Jan 25, 2009 (130)
17	ILLUMINA-UK	ss116164936	Feb 14, 2009 (130)
18	ENSEMBL	ss142621725	Dec 01, 2009 (131)
19	ENSEMBL	ss144176169	Dec 01, 2009 (131)
20	GMI	ss155116936	Dec 01, 2009 (131)
21	COMPLETE_GENOMICS	ss162485300	Jul 04, 2010 (132)
22	COMPLETE_GENOMICS	ss164706228	Jul 04, 2010 (132)
23	COMPLETE_GENOMICS	ss166798290	Jul 04, 2010 (132)
24	BUSHMAN	ss203568996	Jul 04, 2010 (132)
25	BCM-HGSC-SUB	ss208147035	Jul 04, 2010 (132)
26	1000GENOMES	ss223170587	Jul 14, 2010 (132)
27	1000GENOMES	ss234052113	Jul 15, 2010 (132)
28	BL	ss254475375	May 09, 2011 (134)
29	GMI	ss279414067	May 04, 2012 (137)
30	GMI	ss285667290	Apr 25, 2013 (138)
31	PJP	ss293905057	May 09, 2011 (134)
32	1000GENOMES	ss490947730	May 04, 2012 (137)
33	EXOME_CHIP	ss491401018	May 04, 2012 (137)
34	CLINSEQ_SNP	ss491908869	May 04, 2012 (137)
35	TISHKOFF	ss560116080	Apr 25, 2013 (138)
36	SSMP	ss654513262	Apr 25, 2013 (138)
37	NHLBI-ESP	ss712780047	Apr 25, 2013 (138)
38	ILLUMINA	ss780860642	Aug 21, 2014 (142)
39	ILLUMINA	ss783545081	Aug 21, 2014 (142)
40	EVA-GONL	ss984475135	Aug 21, 2014 (142)
41	JMKIDD_LAB	ss1067489279	Aug 21, 2014 (142)
42	JMKIDD_LAB	ss1074746815	Aug 21, 2014 (142)
43	1000GENOMES	ss1325893794	Aug 21, 2014 (142)
44	DDI	ss1431191299	Apr 01, 2015 (144)
45	EVA_GENOME_DK	ss1582280841	Apr 01, 2015 (144)
46	EVA_DECODE	ss1594049677	Apr 01, 2015 (144)
47	EVA_UK10K_ALSPAC	ss1618568485	Apr 01, 2015 (144)
48	EVA_UK10K_TWINSUK	ss1661562518	Apr 01, 2015 (144)
49	EVA_EXAC	ss1688796980	Apr 01, 2015 (144)
50	EVA_MGP	ss1711170140	Apr 01, 2015 (144)
51	ILLUMINA	ss1752696892	Sep 08, 2015 (146)
52	HAMMER_LAB	ss1805085775	Sep 08, 2015 (146)
53	ILLUMINA	ss1917818349	Feb 12, 2016 (147)
54	WEILL_CORNELL_DGM	ss1927736858	Feb 12, 2016 (147)
55	ILLUMINA	ss1946212561	Feb 12, 2016 (147)
56	ILLUMINA	ss1959027275	Feb 12, 2016 (147)
57	GENOMED	ss1970744954	Jul 19, 2016 (147)
58	JJLAB	ss2024551127	Sep 14, 2016 (149)
59	USC_VALOUEV	ss2152771652	Dec 20, 2016 (150)
60	HUMAN_LONGEVITY	ss2295275604	Dec 20, 2016 (150)
61	SYSTEMSBIOZJU	ss2626766909	Nov 08, 2017 (151)
62	GRF	ss2708474344	Nov 08, 2017 (151)
63	GNOMAD	ss2736529544	Nov 08, 2017 (151)
64	GNOMAD	ss2747851407	Nov 08, 2017 (151)
65	GNOMAD	ss2855465179	Nov 08, 2017 (151)
66	AFFY	ss2985411040	Nov 08, 2017 (151)
67	SWEGEN	ss3001528445	Nov 08, 2017 (151)
68	ILLUMINA	ss3022751789	Nov 08, 2017 (151)
69	BIOINF_KMB_FNS_UNIBA	ss3026068590	Nov 08, 2017 (151)
70	CSHL	ss3347703475	Nov 08, 2017 (151)
71	ILLUMINA	ss3629850856	Oct 12, 2018 (152)
72	ILLUMINA	ss3635127891	Oct 12, 2018 (152)
73	ILLUMINA	ss3640835183	Oct 12, 2018 (152)
74	ILLUMINA	ss3644945664	Oct 12, 2018 (152)
75	OMUKHERJEE_ADBS	ss3646358715	Oct 12, 2018 (152)
76	URBANLAB	ss3648686837	Oct 12, 2018 (152)
77	ILLUMINA	ss3653285325	Oct 12, 2018 (152)
78	ILLUMINA	ss3654172277	Oct 12, 2018 (152)
79	EGCUT_WGS	ss3669280301	Jul 13, 2019 (153)
80	EVA_DECODE	ss3720088536	Jul 13, 2019 (153)
81	ILLUMINA	ss3726457226	Jul 13, 2019 (153)
82	ACPOP	ss3734807682	Jul 13, 2019 (153)
83	ILLUMINA	ss3744569275	Jul 13, 2019 (153)
84	ILLUMINA	ss3745427905	Jul 13, 2019 (153)
85	EVA	ss3766793317	Jul 13, 2019 (153)
86	PAGE_CC	ss3771379775	Jul 13, 2019 (153)
87	ILLUMINA	ss3772920812	Jul 13, 2019 (153)
88	PACBIO	ss3785875931	Jul 13, 2019 (153)
89	PACBIO	ss3791169386	Jul 13, 2019 (153)
90	PACBIO	ss3796049294	Jul 13, 2019 (153)
91	KHV_HUMAN_GENOMES	ss3809963736	Jul 13, 2019 (153)
92	EVA	ss3824287011	Apr 26, 2020 (154)
93	EVA	ss3825722323	Apr 26, 2020 (154)
94	EVA	ss3830670774	Apr 26, 2020 (154)
95	EVA	ss3838832127	Apr 26, 2020 (154)
96	EVA	ss3844286660	Apr 26, 2020 (154)
97	SGDP_PRJ	ss3867750185	Apr 26, 2020 (154)
98	KRGDB	ss3915007749	Apr 26, 2020 (154)
99	KOGIC	ss3961974091	Apr 26, 2020 (154)
100	FSA-LAB	ss3984371299	Apr 26, 2021 (155)
101	FSA-LAB	ss3984371300	Apr 26, 2021 (155)
102	EVA	ss3984590818	Apr 26, 2021 (155)
103	EVA	ss3986040276	Apr 26, 2021 (155)
104	EVA	ss3986387395	Apr 26, 2021 (155)
105	TOPMED	ss4752550334	Apr 26, 2021 (155)
106	TOMMO_GENOMICS	ss5184150086	Apr 26, 2021 (155)
107	EVA	ss5237034414	Apr 26, 2021 (155)
108	EVA	ss5237196811	Apr 26, 2021 (155)
109	1000G_HIGH_COVERAGE	ss5273641042	Oct 13, 2022 (156)
110	TRAN_CS_UWATERLOO	ss5314420260	Oct 13, 2022 (156)
111	EVA	ss5315259758	Oct 13, 2022 (156)
112	EVA	ss5374786869	Oct 13, 2022 (156)
113	HUGCELL_USP	ss5470650656	Oct 13, 2022 (156)
114	EVA	ss5509023149	Oct 13, 2022 (156)
115	1000G_HIGH_COVERAGE	ss5562208192	Oct 13, 2022 (156)
116	EVA	ss5623940576	Oct 13, 2022 (156)
117	EVA	ss5624168171	Oct 13, 2022 (156)
118	SANFORD_IMAGENETICS	ss5643365950	Oct 13, 2022 (156)
119	TOMMO_GENOMICS	ss5724709780	Oct 13, 2022 (156)
120	EVA	ss5799432027	Oct 13, 2022 (156)
121	EVA	ss5800058018	Oct 13, 2022 (156)
122	EVA	ss5800140060	Oct 13, 2022 (156)
123	YY_MCH	ss5808830157	Oct 13, 2022 (156)
124	EVA	ss5823107535	Oct 13, 2022 (156)
125	EVA	ss5848143098	Oct 13, 2022 (156)
126	EVA	ss5848685423	Oct 13, 2022 (156)
127	EVA	ss5855978569	Oct 13, 2022 (156)
128	EVA	ss5859643361	Oct 13, 2022 (156)
129	EVA	ss5936535553	Oct 13, 2022 (156)
130	EVA	ss5972541826	Oct 13, 2022 (156)
131	EVA	ss5980446631	Oct 13, 2022 (156)
132	EVA	ss5981243808	Oct 13, 2022 (156)
133	1000Genomes	NC_000007.13 - 82764425	Oct 12, 2018 (152)
134	1000Genomes_30x	NC_000007.14 - 83135109	Oct 13, 2022 (156)
135	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 82764425	Oct 12, 2018 (152)
136	Genetic variation in the Estonian population	NC_000007.13 - 82764425	Oct 12, 2018 (152)
137	ExAC	NC_000007.13 - 82764425	Oct 12, 2018 (152)
138	The Danish reference pan genome	NC_000007.13 - 82764425	Apr 26, 2020 (154)
139	gnomAD - Genomes	NC_000007.14 - 83135109	Apr 26, 2021 (155)
140	gnomAD - Exomes	NC_000007.13 - 82764425	Jul 13, 2019 (153)
141	GO Exome Sequencing Project	NC_000007.13 - 82764425	Oct 12, 2018 (152)
142	Genome of the Netherlands Release 5	NC_000007.13 - 82764425	Apr 26, 2020 (154)
143	HapMap	NC_000007.14 - 83135109	Apr 26, 2020 (154)
144	KOREAN population from KRGDB	NC_000007.13 - 82764425	Apr 26, 2020 (154)
145	Korean Genome Project	NC_000007.14 - 83135109	Apr 26, 2020 (154)
146	Medical Genome Project healthy controls from Spanish population	NC_000007.13 - 82764425	Apr 26, 2020 (154)
147	Northern Sweden	NC_000007.13 - 82764425	Jul 13, 2019 (153)
148	The PAGE Study	NC_000007.14 - 83135109	Jul 13, 2019 (153)
149	CNV burdens in cranial meningiomas	NC_000007.13 - 82764425	Apr 26, 2021 (155)
150	Qatari	NC_000007.13 - 82764425	Apr 26, 2020 (154)
151	SGDP_PRJ	NC_000007.13 - 82764425	Apr 26, 2020 (154)
152	Siberian	NC_000007.13 - 82764425	Apr 26, 2020 (154)
153	8.3KJPN	NC_000007.13 - 82764425	Apr 26, 2021 (155)
154	14KJPN	NC_000007.14 - 83135109	Oct 13, 2022 (156)
155	TopMed	NC_000007.14 - 83135109	Apr 26, 2021 (155)
156	UK 10K study - Twins	NC_000007.13 - 82764425	Oct 12, 2018 (152)
157	A Vietnamese Genetic Variation Database	NC_000007.13 - 82764425	Jul 13, 2019 (153)
158	ALFA	NC_000007.14 - 83135109	Apr 26, 2021 (155)
159	ClinVar	RCV001680484.4	Oct 13, 2022 (156)
160	ClinVar	RCV001699595.3	Oct 13, 2022 (156)
161	ClinVar	RCV001788758.2	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)
rs57270789	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
22185143, ss3915007749	NC_000007.13:82764424:C:A	NC_000007.14:83135108:C:A	(self)
ss79911540, ss83301091	NC_000007.11:82409075:C:G	NC_000007.14:83135108:C:G	(self)
ss93717099, ss112270782, ss114012945, ss116164936, ss162485300, ss164706228, ss166798290, ss203568996, ss208147035, ss254475375, ss279414067, ss285667290, ss293905057, ss491908869, ss1594049677	NC_000007.12:82602360:C:G	NC_000007.14:83135108:C:G	(self)
37891045, 21086275, 15018549, 8867219, 8445780, 5691609, 744970, 9415296, 22185143, 285900, 8092547, 140243, 9778788, 19767165, 5288006, 42119393, 21086275, 4701804, ss223170587, ss234052113, ss490947730, ss491401018, ss560116080, ss654513262, ss712780047, ss780860642, ss783545081, ss984475135, ss1067489279, ss1074746815, ss1325893794, ss1431191299, ss1582280841, ss1618568485, ss1661562518, ss1688796980, ss1711170140, ss1752696892, ss1805085775, ss1917818349, ss1927736858, ss1946212561, ss1959027275, ss1970744954, ss2024551127, ss2152771652, ss2626766909, ss2708474344, ss2736529544, ss2747851407, ss2855465179, ss2985411040, ss3001528445, ss3022751789, ss3347703475, ss3629850856, ss3635127891, ss3640835183, ss3644945664, ss3646358715, ss3653285325, ss3654172277, ss3669280301, ss3734807682, ss3744569275, ss3745427905, ss3766793317, ss3772920812, ss3785875931, ss3791169386, ss3796049294, ss3824287011, ss3825722323, ss3830670774, ss3838832127, ss3867750185, ss3915007749, ss3984371299, ss3984371300, ss3984590818, ss3986040276, ss3986387395, ss5184150086, ss5315259758, ss5374786869, ss5509023149, ss5623940576, ss5624168171, ss5643365950, ss5799432027, ss5800058018, ss5800140060, ss5823107535, ss5848143098, ss5848685423, ss5936535553, ss5972541826, ss5980446631, ss5981243808	NC_000007.13:82764424:C:G	NC_000007.14:83135108:C:G	(self)
RCV001680484.4, RCV001699595.3, RCV001788758.2, 49734127, 267302332, 3432164, 18352092, 601244, 58546884, 589927893, 4488444547, ss2295275604, ss3026068590, ss3648686837, ss3720088536, ss3726457226, ss3771379775, ss3809963736, ss3844286660, ss3961974091, ss4752550334, ss5237034414, ss5237196811, ss5273641042, ss5314420260, ss5470650656, ss5562208192, ss5724709780, ss5808830157, ss5855978569, ss5859643361	NC_000007.14:83135108:C:G	NC_000007.14:83135108:C:G	(self)
ss10397802	NT_007933.12:7998662:C:G	NC_000007.14:83135108:C:G	(self)
ss17918763, ss22549735, ss22927303	NT_007933.13:7998662:C:G	NC_000007.14:83135108:C:G	(self)
ss2908, ss65727238, ss69020644, ss74810070, ss86237785, ss98165992, ss105553326, ss142621725, ss144176169, ss155116936	NT_007933.15:20797267:C:G	NC_000007.14:83135108:C:G	(self)
22185143, ss3915007749	NC_000007.13:82764424:C:T	NC_000007.14:83135108:C:T	(self)
4488444547	NC_000007.14:83135108:C:T	NC_000007.14:83135108:C:T	(self)

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

1 citation for rs2877

PMID	Title	Author	Year	Journal
35328053	Characterization of PCLO Gene in Amazonian Native American Populations.	Cohen-Paes AN et al.	2022	Genes

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs2877