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dbSNP Short Genetic Variations

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.

rs150812083

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:7809893 (GRCh38.p13) 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>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.002671 (707/264690, TOPMED)
G=0.005624 (1406/249982, GnomAD_exome)
G=0.005111 (717/140280, GnomAD) (+ 15 more)
G=0.005886 (695/118078, ExAC)
G=0.004674 (536/114686, ALFA)
G=0.00053 (42/78696, PAGE_STUDY)
G=0.00284 (37/13006, GO-ESP)
G=0.0034 (17/5008, 1000G)
G=0.0170 (76/4480, Estonian)
G=0.0060 (23/3854, ALSPAC)
G=0.0054 (20/3708, TWINSUK)
G=0.005 (5/998, GoNL)
G=0.015 (9/600, NorthernSweden)
G=0.002 (1/534, MGP)
G=0.020 (6/302, FINRISK)
C=0.4 (3/8, Siberian)
C=0.5 (1/2, SGDP_PRJ)
G=0.5 (1/2, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
PER3 : Missense Variant
Publications
2 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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 114686 C=0.995326 G=0.004674
European Sub 96942 C=0.99479 G=0.00521
African Sub 4360 C=1.0000 G=0.0000
African Others Sub 174 C=1.000 G=0.000
African American Sub 4186 C=1.0000 G=0.0000
Asian Sub 3330 C=1.0000 G=0.0000
East Asian Sub 2674 C=1.0000 G=0.0000
Other Asian Sub 656 C=1.000 G=0.000
Latin American 1 Sub 790 C=0.997 G=0.003
Latin American 2 Sub 946 C=0.999 G=0.001
South Asian Sub 274 C=1.000 G=0.000
Other Sub 8044 C=0.9965 G=0.0035


Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 C=0.997329 G=0.002671
gnomAD - Exomes Global Study-wide 249982 C=0.994376 G=0.005624
gnomAD - Exomes European Sub 134326 C=0.990590 G=0.009410
gnomAD - Exomes Asian Sub 48904 C=0.99845 G=0.00155
gnomAD - Exomes American Sub 34452 C=0.99916 G=0.00084
gnomAD - Exomes African Sub 16178 C=0.99932 G=0.00068
gnomAD - Exomes Ashkenazi Jewish Sub 10034 C=1.00000 G=0.00000
gnomAD - Exomes Other Sub 6088 C=0.9957 G=0.0043
gnomAD - Genomes Global Study-wide 140280 C=0.994889 G=0.005111
gnomAD - Genomes European Sub 75968 C=0.99110 G=0.00890
gnomAD - Genomes African Sub 42054 C=0.99941 G=0.00059
gnomAD - Genomes American Sub 13654 C=0.99897 G=0.00103
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3130 C=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2152 C=0.9991 G=0.0009
ExAC Global Study-wide 118078 C=0.994114 G=0.005886
ExAC Europe Sub 71170 C=0.99113 G=0.00887
ExAC Asian Sub 24656 C=0.99813 G=0.00187
ExAC American Sub 11322 C=0.99912 G=0.00088
ExAC African Sub 10068 C=0.99950 G=0.00050
ExAC Other Sub 862 C=0.997 G=0.003
Allele Frequency Aggregator Total Global 114686 C=0.995326 G=0.004674
Allele Frequency Aggregator European Sub 96942 C=0.99479 G=0.00521
Allele Frequency Aggregator Other Sub 8044 C=0.9965 G=0.0035
Allele Frequency Aggregator African Sub 4360 C=1.0000 G=0.0000
Allele Frequency Aggregator Asian Sub 3330 C=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 946 C=0.999 G=0.001
Allele Frequency Aggregator Latin American 1 Sub 790 C=0.997 G=0.003
Allele Frequency Aggregator South Asian Sub 274 C=1.000 G=0.000
The PAGE Study Global Study-wide 78696 C=0.99947 G=0.00053
The PAGE Study AfricanAmerican Sub 32514 C=0.99951 G=0.00049
The PAGE Study Mexican Sub 10810 C=0.99935 G=0.00065
The PAGE Study Asian Sub 8318 C=1.0000 G=0.0000
The PAGE Study PuertoRican Sub 7918 C=0.9992 G=0.0008
The PAGE Study NativeHawaiian Sub 4532 C=0.9996 G=0.0004
The PAGE Study Cuban Sub 4228 C=0.9991 G=0.0009
The PAGE Study Dominican Sub 3828 C=0.9990 G=0.0010
The PAGE Study CentralAmerican Sub 2450 C=1.0000 G=0.0000
The PAGE Study SouthAmerican Sub 1982 C=1.0000 G=0.0000
The PAGE Study NativeAmerican Sub 1260 C=0.9976 G=0.0024
The PAGE Study SouthAsian Sub 856 C=1.000 G=0.000
GO Exome Sequencing Project Global Study-wide 13006 C=0.99716 G=0.00284
GO Exome Sequencing Project European American Sub 8600 C=0.9959 G=0.0041
GO Exome Sequencing Project African American Sub 4406 C=0.9995 G=0.0005
1000Genomes Global Study-wide 5008 C=0.9966 G=0.0034
1000Genomes African Sub 1322 C=0.9992 G=0.0008
1000Genomes East Asian Sub 1008 C=1.0000 G=0.0000
1000Genomes Europe Sub 1006 C=0.9891 G=0.0109
1000Genomes South Asian Sub 978 C=0.997 G=0.003
1000Genomes American Sub 694 C=0.997 G=0.003
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9830 G=0.0170
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9940 G=0.0060
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9946 G=0.0054
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.995 G=0.005
Northern Sweden ACPOP Study-wide 600 C=0.985 G=0.015
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.998 G=0.002
FINRISK Finnish from FINRISK project Study-wide 302 C=0.980 G=0.020
Siberian Global Study-wide 8 C=0.4 G=0.6
SGDP_PRJ Global Study-wide 2 C=0.5 G=0.5
Help

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.p13 chr 1 NC_000001.11:g.7809893C>G
GRCh37.p13 chr 1 NC_000001.10:g.7869953C>G
PER3 RefSeqGene NG_046850.1:g.30514C>G
Gene: PER3, period circadian regulator 3 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PER3 transcript variant 7 NM_001377275.1:c.1243C>G P [CCA] > A [GCA] Coding Sequence Variant
period circadian protein homolog 3 isoform 1 NP_001364204.1:p.Pro415Ala P (Pro) > A (Ala) Missense Variant
PER3 transcript variant 6 NM_001377276.1:c.1243C>G P [CCA] > A [GCA] Coding Sequence Variant
period circadian protein homolog 3 isoform 6 NP_001364205.1:p.Pro415Ala P (Pro) > A (Ala) Missense Variant
PER3 transcript variant 4 NM_016831.4:c.1240C>G P [CCA] > A [GCA] Coding Sequence Variant
period circadian protein homolog 3 isoform 4 NP_058515.1:p.Pro414Ala P (Pro) > A (Ala) Missense Variant
PER3 transcript variant 5 NM_001289864.3:c.286C>G P [CCA] > A [GCA] Coding Sequence Variant
period circadian protein homolog 3 isoform 5 NP_001276793.1:p.Pro96Ala P (Pro) > A (Ala) Missense Variant
PER3 transcript variant 1 NM_001289862.2:c.1243C>G P [CCA] > A [GCA] Coding Sequence Variant
period circadian protein homolog 3 isoform 1 NP_001276791.1:p.Pro415Ala P (Pro) > A (Ala) Missense Variant
PER3 transcript variant 2 NM_001289861.2:c.1243C>G P [CCA] > A [GCA] Coding Sequence Variant
period circadian protein homolog 3 isoform 2 NP_001276790.1:p.Pro415Ala P (Pro) > A (Ala) Missense Variant
PER3 transcript variant 3 NM_001289863.3:c.1243C>G P [CCA] > A [GCA] Coding Sequence Variant
period circadian protein homolog 3 isoform 3 NP_001276792.1:p.Pro415Ala P (Pro) > A (Ala) Missense Variant
PER3 transcript variant X21 XM_017002737.1:c.-129= N/A 5 Prime UTR Variant
PER3 transcript variant X22 XM_017002738.2:c.-129= N/A 5 Prime UTR Variant
PER3 transcript variant X10 XM_017002727.1:c.1075C>G P [CCA] > A [GCA] Coding Sequence Variant
period circadian protein homolog 3 isoform X10 XP_016858216.1:p.Pro359Ala P (Pro) > A (Ala) Missense Variant
PER3 transcript variant X11 XM_017002728.1:c.895C>G P [CCA] > A [GCA] Coding Sequence Variant
period circadian protein homolog 3 isoform X11 XP_016858217.1:p.Pro299Ala P (Pro) > A (Ala) Missense Variant
PER3 transcript variant X12 XM_017002729.1:c.880C>G P [CCA] > A [GCA] Coding Sequence Variant
period circadian protein homolog 3 isoform X12 XP_016858218.1:p.Pro294Ala P (Pro) > A (Ala) Missense Variant
PER3 transcript variant X15 XM_017002732.1:c.895C>G P [CCA] > A [GCA] Coding Sequence Variant
period circadian protein homolog 3 isoform X15 XP_016858221.1:p.Pro299Ala P (Pro) > A (Ala) Missense Variant
PER3 transcript variant X17 XM_017002734.1:c.718C>G P [CCA] > A [GCA] Coding Sequence Variant
period circadian protein homolog 3 isoform X16 XP_016858223.1:p.Pro240Ala P (Pro) > A (Ala) Missense Variant
PER3 transcript variant X2 XM_024450586.1:c.1243C>G P [CCA] > A [GCA] Coding Sequence Variant
period circadian protein homolog 3 isoform X2 XP_024306354.1:p.Pro415Ala P (Pro) > A (Ala) Missense Variant
PER3 transcript variant X3 XM_017002723.2:c.1240C>G P [CCA] > A [GCA] Coding Sequence Variant
period circadian protein homolog 3 isoform X3 XP_016858212.1:p.Pro414Ala P (Pro) > A (Ala) Missense Variant
PER3 transcript variant X4 XM_017002724.2:c.1240C>G P [CCA] > A [GCA] Coding Sequence Variant
period circadian protein homolog 3 isoform X4 XP_016858213.1:p.Pro414Ala P (Pro) > A (Ala) Missense Variant
PER3 transcript variant X5 XM_024450587.1:c.1243C>G P [CCA] > A [GCA] Coding Sequence Variant
period circadian protein homolog 3 isoform X5 XP_024306355.1:p.Pro415Ala P (Pro) > A (Ala) Missense Variant
PER3 transcript variant X6 XM_005263524.4:c.1243C>G P [CCA] > A [GCA] Coding Sequence Variant
period circadian protein homolog 3 isoform X6 XP_005263581.1:p.Pro415Ala P (Pro) > A (Ala) Missense Variant
PER3 transcript variant X8 XM_017002726.2:c.1240C>G P [CCA] > A [GCA] Coding Sequence Variant
period circadian protein homolog 3 isoform X9 XP_016858215.1:p.Pro414Ala P (Pro) > A (Ala) Missense Variant
PER3 transcript variant X9 XM_024450590.1:c.1240C>G P [CCA] > A [GCA] Coding Sequence Variant
period circadian protein homolog 3 isoform X11 XP_024306358.1:p.Pro414Ala P (Pro) > A (Ala) Missense Variant
PER3 transcript variant X13 XM_017002730.2:c.895C>G P [CCA] > A [GCA] Coding Sequence Variant
period circadian protein homolog 3 isoform X13 XP_016858219.1:p.Pro299Ala P (Pro) > A (Ala) Missense Variant
PER3 transcript variant X14 XM_017002731.2:c.895C>G P [CCA] > A [GCA] Coding Sequence Variant
period circadian protein homolog 3 isoform X14 XP_016858220.1:p.Pro299Ala P (Pro) > A (Ala) Missense Variant
PER3 transcript variant X16 XM_017002733.2:c.718C>G P [CCA] > A [GCA] Coding Sequence Variant
period circadian protein homolog 3 isoform X16 XP_016858222.1:p.Pro240Ala P (Pro) > A (Ala) Missense Variant
PER3 transcript variant X18 XM_017002735.2:c.718C>G P [CCA] > A [GCA] Coding Sequence Variant
period circadian protein homolog 3 isoform X17 XP_016858224.1:p.Pro240Ala P (Pro) > A (Ala) Missense Variant
PER3 transcript variant X19 XM_024450611.1:c.718C>G P [CCA] > A [GCA] Coding Sequence Variant
period circadian protein homolog 3 isoform X18 XP_024306379.1:p.Pro240Ala P (Pro) > A (Ala) Missense Variant
PER3 transcript variant X20 XM_024450612.1:c.718C>G P [CCA] > A [GCA] Coding Sequence Variant
period circadian protein homolog 3 isoform X19 XP_024306380.1:p.Pro240Ala P (Pro) > A (Ala) Missense Variant
Help

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: 226735 )
ClinVar Accession Disease Names Clinical Significance
RCV000210468.3 Advanced sleep phase syndrome, familial, 3 Pathogenic
RCV000495971.1 Advanced sleep phase syndrome, familial, 3 Pathogenic
Help

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= G
GRCh38.p13 chr 1 NC_000001.11:g.7809893= NC_000001.11:g.7809893C>G
GRCh37.p13 chr 1 NC_000001.10:g.7869953= NC_000001.10:g.7869953C>G
PER3 RefSeqGene NG_046850.1:g.30514= NG_046850.1:g.30514C>G
PER3 transcript variant 4 NM_016831.4:c.1240= NM_016831.4:c.1240C>G
PER3 transcript variant 4 NM_016831.3:c.1240= NM_016831.3:c.1240C>G
PER3 transcript variant 4 NM_016831.2:c.1240= NM_016831.2:c.1240C>G
PER3 transcript NM_016831.1:c.1240= NM_016831.1:c.1240C>G
PER3 transcript variant 5 NM_001289864.3:c.286= NM_001289864.3:c.286C>G
PER3 transcript variant 5 NM_001289864.2:c.286= NM_001289864.2:c.286C>G
PER3 transcript variant 5 NM_001289864.1:c.286= NM_001289864.1:c.286C>G
PER3 transcript variant 3 NM_001289863.3:c.1243= NM_001289863.3:c.1243C>G
PER3 transcript variant 3 NM_001289863.2:c.1243= NM_001289863.2:c.1243C>G
PER3 transcript variant 3 NM_001289863.1:c.1243= NM_001289863.1:c.1243C>G
PER3 transcript variant 2 NM_001289861.2:c.1243= NM_001289861.2:c.1243C>G
PER3 transcript variant 2 NM_001289861.1:c.1243= NM_001289861.1:c.1243C>G
PER3 transcript variant 1 NM_001289862.2:c.1243= NM_001289862.2:c.1243C>G
PER3 transcript variant 1 NM_001289862.1:c.1243= NM_001289862.1:c.1243C>G
PER3 transcript variant 7 NM_001377275.1:c.1243= NM_001377275.1:c.1243C>G
PER3 transcript variant 6 NM_001377276.1:c.1243= NM_001377276.1:c.1243C>G
PER3 transcript variant X6 XM_005263524.4:c.1243= XM_005263524.4:c.1243C>G
PER3 transcript variant X5 XM_005263524.1:c.1243= XM_005263524.1:c.1243C>G
PER3 transcript variant X16 XM_017002733.2:c.718= XM_017002733.2:c.718C>G
PER3 transcript variant X18 XM_017002735.2:c.718= XM_017002735.2:c.718C>G
PER3 transcript variant X3 XM_017002723.2:c.1240= XM_017002723.2:c.1240C>G
PER3 transcript variant X4 XM_017002724.2:c.1240= XM_017002724.2:c.1240C>G
PER3 transcript variant X8 XM_017002726.2:c.1240= XM_017002726.2:c.1240C>G
PER3 transcript variant X13 XM_017002730.2:c.895= XM_017002730.2:c.895C>G
PER3 transcript variant X14 XM_017002731.2:c.895= XM_017002731.2:c.895C>G
PER3 transcript variant X22 XM_017002738.2:c.-129= XM_017002738.2:c.-129C>G
PER3 transcript variant X20 XM_024450612.1:c.718= XM_024450612.1:c.718C>G
PER3 transcript variant X17 XM_017002734.1:c.718= XM_017002734.1:c.718C>G
PER3 transcript variant X10 XM_017002727.1:c.1075= XM_017002727.1:c.1075C>G
PER3 transcript variant X19 XM_024450611.1:c.718= XM_024450611.1:c.718C>G
PER3 transcript variant X15 XM_017002732.1:c.895= XM_017002732.1:c.895C>G
PER3 transcript variant X2 XM_024450586.1:c.1243= XM_024450586.1:c.1243C>G
PER3 transcript variant X5 XM_024450587.1:c.1243= XM_024450587.1:c.1243C>G
PER3 transcript variant X9 XM_024450590.1:c.1240= XM_024450590.1:c.1240C>G
PER3 transcript variant X11 XM_017002728.1:c.895= XM_017002728.1:c.895C>G
PER3 transcript variant X12 XM_017002729.1:c.880= XM_017002729.1:c.880C>G
PER3 transcript variant X21 XM_017002737.1:c.-129= XM_017002737.1:c.-129C>G
period circadian protein homolog 3 isoform 4 NP_058515.1:p.Pro414= NP_058515.1:p.Pro414Ala
period circadian protein homolog 3 isoform 5 NP_001276793.1:p.Pro96= NP_001276793.1:p.Pro96Ala
period circadian protein homolog 3 isoform 3 NP_001276792.1:p.Pro415= NP_001276792.1:p.Pro415Ala
period circadian protein homolog 3 isoform 2 NP_001276790.1:p.Pro415= NP_001276790.1:p.Pro415Ala
period circadian protein homolog 3 isoform 1 NP_001276791.1:p.Pro415= NP_001276791.1:p.Pro415Ala
period circadian protein homolog 3 isoform 1 NP_001364204.1:p.Pro415= NP_001364204.1:p.Pro415Ala
period circadian protein homolog 3 isoform 6 NP_001364205.1:p.Pro415= NP_001364205.1:p.Pro415Ala
period circadian protein homolog 3 isoform X6 XP_005263581.1:p.Pro415= XP_005263581.1:p.Pro415Ala
period circadian protein homolog 3 isoform X16 XP_016858222.1:p.Pro240= XP_016858222.1:p.Pro240Ala
period circadian protein homolog 3 isoform X17 XP_016858224.1:p.Pro240= XP_016858224.1:p.Pro240Ala
period circadian protein homolog 3 isoform X3 XP_016858212.1:p.Pro414= XP_016858212.1:p.Pro414Ala
period circadian protein homolog 3 isoform X4 XP_016858213.1:p.Pro414= XP_016858213.1:p.Pro414Ala
period circadian protein homolog 3 isoform X9 XP_016858215.1:p.Pro414= XP_016858215.1:p.Pro414Ala
period circadian protein homolog 3 isoform X13 XP_016858219.1:p.Pro299= XP_016858219.1:p.Pro299Ala
period circadian protein homolog 3 isoform X14 XP_016858220.1:p.Pro299= XP_016858220.1:p.Pro299Ala
period circadian protein homolog 3 isoform X19 XP_024306380.1:p.Pro240= XP_024306380.1:p.Pro240Ala
period circadian protein homolog 3 isoform X16 XP_016858223.1:p.Pro240= XP_016858223.1:p.Pro240Ala
period circadian protein homolog 3 isoform X10 XP_016858216.1:p.Pro359= XP_016858216.1:p.Pro359Ala
period circadian protein homolog 3 isoform X18 XP_024306379.1:p.Pro240= XP_024306379.1:p.Pro240Ala
period circadian protein homolog 3 isoform X15 XP_016858221.1:p.Pro299= XP_016858221.1:p.Pro299Ala
period circadian protein homolog 3 isoform X2 XP_024306354.1:p.Pro415= XP_024306354.1:p.Pro415Ala
period circadian protein homolog 3 isoform X5 XP_024306355.1:p.Pro415= XP_024306355.1:p.Pro415Ala
period circadian protein homolog 3 isoform X11 XP_024306358.1:p.Pro414= XP_024306358.1:p.Pro414Ala
period circadian protein homolog 3 isoform X11 XP_016858217.1:p.Pro299= XP_016858217.1:p.Pro299Ala
period circadian protein homolog 3 isoform X12 XP_016858218.1:p.Pro294= XP_016858218.1:p.Pro294Ala
Help

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#.

50 SubSNP, 17 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss328397963 May 09, 2011 (134)
2 NHLBI-ESP ss341929633 May 09, 2011 (134)
3 1000GENOMES ss489718357 May 04, 2012 (137)
4 EXOME_CHIP ss491285524 May 04, 2012 (137)
5 CLINSEQ_SNP ss491583491 May 04, 2012 (137)
6 ILLUMINA ss533768397 Sep 08, 2015 (146)
7 ILLUMINA ss780696897 Aug 21, 2014 (142)
8 ILLUMINA ss783370926 Aug 21, 2014 (142)
9 EVA-GONL ss974830937 Aug 21, 2014 (142)
10 1000GENOMES ss1289583554 Aug 21, 2014 (142)
11 EVA_FINRISK ss1584004279 Apr 01, 2015 (144)
12 EVA_DECODE ss1584189098 Apr 01, 2015 (144)
13 EVA_UK10K_ALSPAC ss1599496889 Apr 01, 2015 (144)
14 EVA_UK10K_TWINSUK ss1642490922 Apr 01, 2015 (144)
15 EVA_EXAC ss1685278630 Apr 01, 2015 (144)
16 EVA_MGP ss1710886722 Apr 01, 2015 (144)
17 ILLUMINA ss1751933742 Sep 08, 2015 (146)
18 ILLUMINA ss1917722105 Feb 12, 2016 (147)
19 ILLUMINA ss1945983763 Feb 12, 2016 (147)
20 ILLUMINA ss1958238544 Feb 12, 2016 (147)
21 USC_VALOUEV ss2147524052 Dec 20, 2016 (150)
22 HUMAN_LONGEVITY ss2159839474 Dec 20, 2016 (150)
23 TOPMED ss2321997476 Dec 20, 2016 (150)
24 GNOMAD ss2731083079 Nov 08, 2017 (151)
25 GNOMAD ss2746203556 Nov 08, 2017 (151)
26 GNOMAD ss2751331186 Nov 08, 2017 (151)
27 AFFY ss2984843774 Nov 08, 2017 (151)
28 SWEGEN ss2986255206 Nov 08, 2017 (151)
29 ILLUMINA ss3021051459 Nov 08, 2017 (151)
30 TOPMED ss3067930459 Nov 08, 2017 (151)
31 ILLUMINA ss3626020410 Oct 11, 2018 (152)
32 ILLUMINA ss3626020411 Oct 11, 2018 (152)
33 ILLUMINA ss3634305429 Oct 11, 2018 (152)
34 ILLUMINA ss3640012793 Oct 11, 2018 (152)
35 ILLUMINA ss3644479615 Oct 11, 2018 (152)
36 ILLUMINA ss3651374621 Oct 11, 2018 (152)
37 ILLUMINA ss3653617667 Oct 11, 2018 (152)
38 EGCUT_WGS ss3654355203 Jul 12, 2019 (153)
39 EVA_DECODE ss3686113001 Jul 12, 2019 (153)
40 ILLUMINA ss3724993986 Jul 12, 2019 (153)
41 ACPOP ss3726768979 Jul 12, 2019 (153)
42 ILLUMINA ss3744338553 Jul 12, 2019 (153)
43 ILLUMINA ss3744606404 Jul 12, 2019 (153)
44 PAGE_CC ss3770783489 Jul 12, 2019 (153)
45 ILLUMINA ss3772108046 Jul 12, 2019 (153)
46 EVA ss3823554621 Apr 25, 2020 (154)
47 EVA ss3825552183 Apr 25, 2020 (154)
48 SGDP_PRJ ss3848141556 Apr 25, 2020 (154)
49 EVA ss3986096910 Apr 27, 2021 (155)
50 TOPMED ss4438370475 Apr 27, 2021 (155)
51 1000Genomes NC_000001.10 - 7869953 Oct 11, 2018 (152)
52 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 7869953 Oct 11, 2018 (152)
53 Genetic variation in the Estonian population NC_000001.10 - 7869953 Oct 11, 2018 (152)
54 ExAC NC_000001.10 - 7869953 Oct 11, 2018 (152)
55 FINRISK NC_000001.10 - 7869953 Apr 25, 2020 (154)
56 gnomAD - Genomes NC_000001.11 - 7809893 Apr 27, 2021 (155)
57 gnomAD - Exomes NC_000001.10 - 7869953 Jul 12, 2019 (153)
58 GO Exome Sequencing Project NC_000001.10 - 7869953 Oct 11, 2018 (152)
59 Genome of the Netherlands Release 5 NC_000001.10 - 7869953 Apr 25, 2020 (154)
60 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 7869953 Apr 25, 2020 (154)
61 Northern Sweden NC_000001.10 - 7869953 Jul 12, 2019 (153)
62 The PAGE Study NC_000001.11 - 7809893 Jul 12, 2019 (153)
63 SGDP_PRJ NC_000001.10 - 7869953 Apr 25, 2020 (154)
64 Siberian NC_000001.10 - 7869953 Apr 25, 2020 (154)
65 TopMed NC_000001.11 - 7809893 Apr 27, 2021 (155)
66 UK 10K study - Twins NC_000001.10 - 7869953 Oct 11, 2018 (152)
67 ALFA NC_000001.11 - 7809893 Apr 27, 2021 (155)
68 ClinVar RCV000210468.3 Apr 25, 2020 (154)
69 ClinVar RCV000495971.1 Oct 11, 2018 (152)
Help

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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss491583491, ss1584189098 NC_000001.9:7792539:C:G NC_000001.11:7809892:C:G (self)
255805, 129521, 93451, 4456155, 740, 97652, 13352, 56223, 3474, 53844, 158536, 40406, 129521, ss328397963, ss341929633, ss489718357, ss491285524, ss533768397, ss780696897, ss783370926, ss974830937, ss1289583554, ss1584004279, ss1599496889, ss1642490922, ss1685278630, ss1710886722, ss1751933742, ss1917722105, ss1945983763, ss1958238544, ss2147524052, ss2321997476, ss2731083079, ss2746203556, ss2751331186, ss2984843774, ss2986255206, ss3021051459, ss3626020410, ss3626020411, ss3634305429, ss3640012793, ss3644479615, ss3651374621, ss3653617667, ss3654355203, ss3726768979, ss3744338553, ss3744606404, ss3772108046, ss3823554621, ss3825552183, ss3848141556, ss3986096910 NC_000001.10:7869952:C:G NC_000001.11:7809892:C:G (self)
RCV000210468.3, RCV000495971.1, 1760015, 4958, 1240347, 1976810, 9095981604, ss2159839474, ss3067930459, ss3686113001, ss3724993986, ss3770783489, ss4438370475 NC_000001.11:7809892:C:G NC_000001.11:7809892:C:G (self)
Help

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

2 citations for rs150812083
PMID Title Author Year Journal
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
26903630 A PERIOD3 variant causes a circadian phenotype and is associated with a seasonal mood trait. Zhang L et al. 2016 Proceedings of the National Academy of Sciences of the United States of America
Help

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.

Software version is: 2.0.1.post676+237644a