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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.

rs1032726

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr3:112967228 (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
T>A / T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.461789 (122231/264690, TOPMED)
C=0.458421 (64112/139854, GnomAD)
C=0.46944 (27221/57986, ALFA) (+ 15 more)
T=0.48210 (8080/16760, 8.3KJPN)
C=0.4826 (2417/5008, 1000G)
T=0.4922 (2205/4480, Estonian)
C=0.4787 (1845/3854, ALSPAC)
C=0.4668 (1731/3708, TWINSUK)
C=0.4788 (1403/2930, KOREAN)
C=0.4694 (860/1832, Korea1K)
T=0.492 (491/998, GoNL)
C=0.465 (279/600, NorthernSweden)
T=0.331 (123/372, SGDP_PRJ)
C=0.466 (153/328, HapMap)
C=0.315 (68/216, Qatari)
C=0.486 (104/214, Vietnamese)
C=0.47 (19/40, GENOME_DK)
T=0.35 (12/34, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CD200R1 : Intron Variant
Publications
0 citations
Genomic View
See rs on genome
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 3 NC_000003.12:g.112967228T>A
GRCh38.p13 chr 3 NC_000003.12:g.112967228T>C
GRCh38.p13 chr 3 NC_000003.12:g.112967228T>G
GRCh37.p13 chr 3 NC_000003.11:g.112686075T>A
GRCh37.p13 chr 3 NC_000003.11:g.112686075T>C
GRCh37.p13 chr 3 NC_000003.11:g.112686075T>G
Gene: CD200R1, CD200 receptor 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CD200R1 transcript variant 1 NM_138806.4:c.67+7563A>T N/A Intron Variant
CD200R1 transcript variant 2 NM_138939.3:c.67+7563A>T N/A Intron Variant
CD200R1 transcript variant 3 NM_138940.3:c.67+7563A>T N/A Intron Variant
CD200R1 transcript variant 4 NM_170780.3:c.67+7563A>T N/A Intron 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.

Not Reported in ClinVar

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 57986 T=0.53056 A=0.00000, C=0.46944
European Sub 42592 T=0.52970 A=0.00000, C=0.47030
African Sub 4786 T=0.5836 A=0.0000, C=0.4164
African Others Sub 172 T=0.570 A=0.000, C=0.430
African American Sub 4614 T=0.5841 A=0.0000, C=0.4159
Asian Sub 454 T=0.469 A=0.000, C=0.531
East Asian Sub 386 T=0.464 A=0.000, C=0.536
Other Asian Sub 68 T=0.50 A=0.00, C=0.50
Latin American 1 Sub 596 T=0.549 A=0.000, C=0.451
Latin American 2 Sub 4974 T=0.4827 A=0.0000, C=0.5173
South Asian Sub 178 T=0.500 A=0.000, C=0.500
Other Sub 4406 T=0.5404 A=0.0000, C=0.4596


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 T=0.538211 C=0.461789
gnomAD - Genomes Global Study-wide 139854 T=0.541579 C=0.458421
gnomAD - Genomes European Sub 75766 T=0.53251 C=0.46749
gnomAD - Genomes African Sub 41882 T=0.56253 C=0.43747
gnomAD - Genomes American Sub 13608 T=0.52109 C=0.47891
gnomAD - Genomes Ashkenazi Jewish Sub 3320 T=0.6054 C=0.3946
gnomAD - Genomes East Asian Sub 3130 T=0.5064 C=0.4936
gnomAD - Genomes Other Sub 2148 T=0.5354 C=0.4646
8.3KJPN JAPANESE Study-wide 16760 T=0.48210 C=0.51790
1000Genomes Global Study-wide 5008 T=0.5174 C=0.4826
1000Genomes African Sub 1322 T=0.5772 C=0.4228
1000Genomes East Asian Sub 1008 T=0.4891 C=0.5109
1000Genomes Europe Sub 1006 T=0.5388 C=0.4612
1000Genomes South Asian Sub 978 T=0.478 C=0.522
1000Genomes American Sub 694 T=0.470 C=0.530
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.4922 C=0.5078
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.5213 C=0.4787
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.5332 C=0.4668
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.5212 A=0.0000, C=0.4788, G=0.0000
Korean Genome Project KOREAN Study-wide 1832 T=0.5306 C=0.4694
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.492 C=0.508
Northern Sweden ACPOP Study-wide 600 T=0.535 C=0.465
SGDP_PRJ Global Study-wide 372 T=0.331 C=0.669
HapMap Global Study-wide 328 T=0.534 C=0.466
HapMap African Sub 120 T=0.617 C=0.383
HapMap American Sub 120 T=0.483 C=0.517
HapMap Asian Sub 88 T=0.49 C=0.51
Qatari Global Study-wide 216 T=0.685 C=0.315
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.514 C=0.486
The Danish reference pan genome Danish Study-wide 40 T=0.53 C=0.47
Siberian Global Study-wide 34 T=0.35 C=0.65
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 T= A C G
GRCh38.p13 chr 3 NC_000003.12:g.112967228= NC_000003.12:g.112967228T>A NC_000003.12:g.112967228T>C NC_000003.12:g.112967228T>G
GRCh37.p13 chr 3 NC_000003.11:g.112686075= NC_000003.11:g.112686075T>A NC_000003.11:g.112686075T>C NC_000003.11:g.112686075T>G
CD200R1 transcript variant 1 NM_138806.3:c.67+7563= NM_138806.3:c.67+7563A>T NM_138806.3:c.67+7563A>G NM_138806.3:c.67+7563A>C
CD200R1 transcript variant 1 NM_138806.4:c.67+7563= NM_138806.4:c.67+7563A>T NM_138806.4:c.67+7563A>G NM_138806.4:c.67+7563A>C
CD200R1 transcript variant 2 NM_138939.2:c.67+7563= NM_138939.2:c.67+7563A>T NM_138939.2:c.67+7563A>G NM_138939.2:c.67+7563A>C
CD200R1 transcript variant 2 NM_138939.3:c.67+7563= NM_138939.3:c.67+7563A>T NM_138939.3:c.67+7563A>G NM_138939.3:c.67+7563A>C
CD200R1 transcript variant 3 NM_138940.2:c.67+7563= NM_138940.2:c.67+7563A>T NM_138940.2:c.67+7563A>G NM_138940.2:c.67+7563A>C
CD200R1 transcript variant 3 NM_138940.3:c.67+7563= NM_138940.3:c.67+7563A>T NM_138940.3:c.67+7563A>G NM_138940.3:c.67+7563A>C
CD200R1 transcript variant 4 NM_170780.2:c.67+7563= NM_170780.2:c.67+7563A>T NM_170780.2:c.67+7563A>G NM_170780.2:c.67+7563A>C
CD200R1 transcript variant 4 NM_170780.3:c.67+7563= NM_170780.3:c.67+7563A>T NM_170780.3:c.67+7563A>G NM_170780.3:c.67+7563A>C
CD200R1 transcript variant X1 XM_005247116.1:c.67+7563= XM_005247116.1:c.67+7563A>T XM_005247116.1:c.67+7563A>G XM_005247116.1:c.67+7563A>C
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#.

72 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss1498312 Oct 05, 2000 (86)
2 TSC-CSHL ss5472838 Oct 08, 2002 (108)
3 BCM_SSAHASNP ss14183219 Dec 05, 2003 (119)
4 PERLEGEN ss23932333 Sep 20, 2004 (123)
5 ABI ss44436875 Mar 13, 2006 (126)
6 BGI ss103973454 Dec 01, 2009 (131)
7 1000GENOMES ss112367825 Jan 25, 2009 (130)
8 ILLUMINA-UK ss117232149 Feb 14, 2009 (130)
9 ENSEMBL ss142495543 Dec 01, 2009 (131)
10 ILLUMINA ss159887722 Dec 01, 2009 (131)
11 COMPLETE_GENOMICS ss162505402 Jul 04, 2010 (132)
12 COMPLETE_GENOMICS ss167053962 Jul 04, 2010 (132)
13 BUSHMAN ss203030418 Jul 04, 2010 (132)
14 BCM-HGSC-SUB ss205993726 Jul 04, 2010 (132)
15 1000GENOMES ss211249931 Jul 14, 2010 (132)
16 1000GENOMES ss220360455 Jul 14, 2010 (132)
17 1000GENOMES ss231982850 Jul 14, 2010 (132)
18 1000GENOMES ss239364544 Jul 15, 2010 (132)
19 GMI ss277299501 May 04, 2012 (137)
20 GMI ss284725910 Apr 25, 2013 (138)
21 ILLUMINA ss479616780 Sep 08, 2015 (146)
22 ILLUMINA ss484275107 May 04, 2012 (137)
23 ILLUMINA ss484433448 May 04, 2012 (137)
24 ILLUMINA ss536459830 Sep 08, 2015 (146)
25 TISHKOFF ss556866781 Apr 25, 2013 (138)
26 SSMP ss650576505 Apr 25, 2013 (138)
27 ILLUMINA ss780592510 Aug 21, 2014 (142)
28 ILLUMINA ss782583596 Aug 21, 2014 (142)
29 ILLUMINA ss836085441 Aug 21, 2014 (142)
30 EVA-GONL ss979029175 Aug 21, 2014 (142)
31 JMKIDD_LAB ss1070736026 Aug 21, 2014 (142)
32 1000GENOMES ss1305651316 Aug 21, 2014 (142)
33 DDI ss1429547215 Apr 01, 2015 (144)
34 EVA_GENOME_DK ss1580130139 Apr 01, 2015 (144)
35 EVA_DECODE ss1588508594 Apr 01, 2015 (144)
36 EVA_UK10K_ALSPAC ss1607944479 Apr 01, 2015 (144)
37 EVA_UK10K_TWINSUK ss1650938512 Apr 01, 2015 (144)
38 HAMMER_LAB ss1799866634 Sep 08, 2015 (146)
39 WEILL_CORNELL_DGM ss1922257197 Feb 12, 2016 (147)
40 GENOMED ss1969493396 Jul 19, 2016 (147)
41 JJLAB ss2021694278 Sep 14, 2016 (149)
42 ILLUMINA ss2095136246 Dec 20, 2016 (150)
43 USC_VALOUEV ss2149785848 Dec 20, 2016 (150)
44 HUMAN_LONGEVITY ss2254813388 Dec 20, 2016 (150)
45 TOPMED ss2422140800 Dec 20, 2016 (150)
46 SYSTEMSBIOZJU ss2625350036 Nov 08, 2017 (151)
47 ILLUMINA ss2633995843 Nov 08, 2017 (151)
48 GRF ss2705187620 Nov 08, 2017 (151)
49 GNOMAD ss2797688600 Nov 08, 2017 (151)
50 SWEGEN ss2992991305 Nov 08, 2017 (151)
51 BIOINF_KMB_FNS_UNIBA ss3024614048 Nov 08, 2017 (151)
52 CSHL ss3345207413 Nov 08, 2017 (151)
53 TOPMED ss3402231061 Nov 08, 2017 (151)
54 ILLUMINA ss3628746334 Oct 12, 2018 (152)
55 ILLUMINA ss3631939589 Oct 12, 2018 (152)
56 ILLUMINA ss3636607241 Oct 12, 2018 (152)
57 ILLUMINA ss3642274536 Oct 12, 2018 (152)
58 URBANLAB ss3647499800 Oct 12, 2018 (152)
59 ILLUMINA ss3652751459 Oct 12, 2018 (152)
60 EGCUT_WGS ss3660914100 Jul 13, 2019 (153)
61 EVA_DECODE ss3710043549 Jul 13, 2019 (153)
62 ACPOP ss3730240268 Jul 13, 2019 (153)
63 EVA ss3760534456 Jul 13, 2019 (153)
64 KHV_HUMAN_GENOMES ss3803671960 Jul 13, 2019 (153)
65 EVA ss3828011202 Apr 25, 2020 (154)
66 EVA ss3837438323 Apr 25, 2020 (154)
67 EVA ss3842868276 Apr 25, 2020 (154)
68 SGDP_PRJ ss3856707235 Apr 25, 2020 (154)
69 KRGDB ss3902687565 Apr 25, 2020 (154)
70 KOGIC ss3952161286 Apr 25, 2020 (154)
71 TOPMED ss4579258012 Apr 26, 2021 (155)
72 TOMMO_GENOMICS ss5161014038 Apr 26, 2021 (155)
73 1000Genomes NC_000003.11 - 112686075 Oct 12, 2018 (152)
74 The Avon Longitudinal Study of Parents and Children NC_000003.11 - 112686075 Oct 12, 2018 (152)
75 Genetic variation in the Estonian population NC_000003.11 - 112686075 Oct 12, 2018 (152)
76 The Danish reference pan genome NC_000003.11 - 112686075 Apr 25, 2020 (154)
77 gnomAD - Genomes NC_000003.12 - 112967228 Apr 26, 2021 (155)
78 Genome of the Netherlands Release 5 NC_000003.11 - 112686075 Apr 25, 2020 (154)
79 HapMap NC_000003.12 - 112967228 Apr 25, 2020 (154)
80 KOREAN population from KRGDB NC_000003.11 - 112686075 Apr 25, 2020 (154)
81 Korean Genome Project NC_000003.12 - 112967228 Apr 25, 2020 (154)
82 Northern Sweden NC_000003.11 - 112686075 Jul 13, 2019 (153)
83 Qatari NC_000003.11 - 112686075 Apr 25, 2020 (154)
84 SGDP_PRJ NC_000003.11 - 112686075 Apr 25, 2020 (154)
85 Siberian NC_000003.11 - 112686075 Apr 25, 2020 (154)
86 8.3KJPN NC_000003.11 - 112686075 Apr 26, 2021 (155)
87 TopMed NC_000003.12 - 112967228 Apr 26, 2021 (155)
88 UK 10K study - Twins NC_000003.11 - 112686075 Oct 12, 2018 (152)
89 A Vietnamese Genetic Variation Database NC_000003.11 - 112686075 Jul 13, 2019 (153)
90 ALFA NC_000003.12 - 112967228 Apr 26, 2021 (155)
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).

Associated ID History Updated (Build)
rs386505681 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
9864959, ss3902687565 NC_000003.11:112686074:T:A NC_000003.12:112967227:T:A (self)
12803218921 NC_000003.12:112967227:T:A NC_000003.12:112967227:T:A
ss112367825, ss117232149, ss159887722, ss162505402, ss167053962, ss203030418, ss205993726, ss211249931, ss277299501, ss284725910, ss484433448, ss1588508594 NC_000003.10:114168764:T:C NC_000003.12:112967227:T:C (self)
16896161, 9405693, 6652348, 6295078, 4134216, 9864959, 3525133, 4299127, 8724215, 2302202, 18983345, 9405693, 2049522, ss220360455, ss231982850, ss239364544, ss479616780, ss484275107, ss536459830, ss556866781, ss650576505, ss780592510, ss782583596, ss836085441, ss979029175, ss1070736026, ss1305651316, ss1429547215, ss1580130139, ss1607944479, ss1650938512, ss1799866634, ss1922257197, ss1969493396, ss2021694278, ss2095136246, ss2149785848, ss2422140800, ss2625350036, ss2633995843, ss2705187620, ss2797688600, ss2992991305, ss3345207413, ss3628746334, ss3631939589, ss3636607241, ss3642274536, ss3652751459, ss3660914100, ss3730240268, ss3760534456, ss3828011202, ss3837438323, ss3856707235, ss3902687565, ss5161014038 NC_000003.11:112686074:T:C NC_000003.12:112967227:T:C (self)
120140982, 2435403, 8539287, 260367265, 416635567, 12803218921, ss2254813388, ss3024614048, ss3402231061, ss3647499800, ss3710043549, ss3803671960, ss3842868276, ss3952161286, ss4579258012 NC_000003.12:112967227:T:C NC_000003.12:112967227:T:C (self)
ss14183219 NT_005612.14:19181220:T:C NC_000003.12:112967227:T:C (self)
ss1498312, ss5472838, ss23932333, ss44436875, ss103973454, ss142495543 NT_005612.16:19181220:T:C NC_000003.12:112967227:T:C (self)
9864959, ss3902687565 NC_000003.11:112686074:T:G NC_000003.12:112967227:T:G (self)
Help

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

No publications for rs1032726

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.post596+ae089ad