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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.

rs1043879

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:25243590 (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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.251579 (73937/293892, ALFA)
C=0.177241 (46914/264690, TOPMED)
C=0.202423 (50877/251340, GnomAD_exome) (+ 25 more)
C=0.188907 (26478/140164, GnomAD)
C=0.199649 (24231/121368, ExAC)
C=0.10805 (8503/78694, PAGE_STUDY)
C=0.00626 (105/16760, 8.3KJPN)
C=0.19553 (2543/13006, GO-ESP)
C=0.1078 (540/5008, 1000G)
C=0.2272 (1018/4480, Estonian)
C=0.2590 (998/3854, ALSPAC)
C=0.2611 (968/3708, TWINSUK)
C=0.0140 (41/2930, KOREAN)
C=0.1694 (353/2084, HGDP_Stanford)
C=0.1004 (190/1892, HapMap)
C=0.0153 (28/1832, Korea1K)
C=0.2113 (240/1136, Daghestan)
C=0.243 (243/998, GoNL)
C=0.029 (23/784, PRJEB37584)
C=0.047 (29/612, Vietnamese)
C=0.237 (142/600, NorthernSweden)
C=0.301 (161/534, MGP)
C=0.322 (98/304, FINRISK)
C=0.255 (55/216, Qatari)
T=0.404 (59/146, SGDP_PRJ)
C=0.35 (18/52, Ancient Sardinia)
C=0.23 (9/40, GENOME_DK)
T=0.39 (7/18, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RSRP1 : Missense Variant
Publications
3 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 1 NC_000001.11:g.25243590T>C
GRCh37.p13 chr 1 NC_000001.10:g.25570081T>C
Gene: RSRP1, arginine and serine rich protein 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RSRP1 transcript variant 2 NM_020317.5:c.716A>G E [GAA] > G [GGA] Coding Sequence Variant
arginine/serine-rich protein 1 NP_064713.3:p.Glu239Gly E (Glu) > G (Gly) Missense Variant
RSRP1 transcript variant 14 NM_001321772.2:c.716A>G E [GAA] > G [GGA] Coding Sequence Variant
arginine/serine-rich protein 1 NP_001308701.1:p.Glu239Gly E (Glu) > G (Gly) Missense Variant
RSRP1 transcript variant 13 NR_135786.2:n.2444A>G N/A Non Coding Transcript Variant
RSRP1 transcript variant 11 NR_135784.2:n.2444A>G N/A Non Coding Transcript Variant
RSRP1 transcript variant 7 NR_135780.2:n.1897A>G N/A Non Coding Transcript Variant
RSRP1 transcript variant 9 NR_135782.2:n.1246A>G N/A Non Coding Transcript Variant
RSRP1 transcript variant 5 NR_135777.2:n.2484A>G N/A Non Coding Transcript Variant
RSRP1 transcript variant 4 NR_135144.2:n.1519A>G N/A Non Coding Transcript Variant
RSRP1 transcript variant 8 NR_135781.2:n.1564A>G N/A Non Coding Transcript Variant
RSRP1 transcript variant 12 NR_135785.2:n.972A>G N/A Non Coding Transcript Variant
RSRP1 transcript variant 16 NR_135788.2:n.2575A>G N/A Non Coding Transcript Variant
RSRP1 transcript variant 15 NR_135787.2:n.2633A>G N/A Non Coding Transcript Variant
RSRP1 transcript variant 10 NR_135783.2:n.973A>G N/A Non Coding Transcript Variant
RSRP1 transcript variant 17 NR_135789.2:n.3513A>G N/A Non Coding Transcript Variant
RSRP1 transcript variant 3 NR_135143.2:n.2444A>G N/A Non Coding Transcript Variant
RSRP1 transcript variant 6 NR_135778.2:n.1793A>G N/A Non Coding Transcript Variant
RSRP1 transcript variant 18 NR_135790.1:n. N/A Genic Downstream Transcript Variant
RSRP1 transcript variant 19 NR_135791.1:n. N/A Genic Downstream Transcript Variant
RSRP1 transcript variant 20 NR_135792.1:n. N/A Genic Downstream Transcript Variant
RSRP1 transcript variant 21 NR_135793.1:n. N/A Genic Downstream Transcript Variant
RSRP1 transcript variant X1 XM_011541797.1:c.716A>G E [GAA] > G [GGA] Coding Sequence Variant
arginine/serine-rich protein 1 isoform X1 XP_011540099.1:p.Glu239Gly E (Glu) > G (Gly) Missense Variant
RSRP1 transcript variant X2 XR_946709.2:n.2246A>G N/A Non Coding Transcript 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 293892 T=0.748421 C=0.251579
European Sub 244720 T=0.729278 C=0.270722
African Sub 10918 T=0.93790 C=0.06210
African Others Sub 358 T=0.992 C=0.008
African American Sub 10560 T=0.93608 C=0.06392
Asian Sub 3776 T=0.9836 C=0.0164
East Asian Sub 2408 T=0.9809 C=0.0191
Other Asian Sub 1368 T=0.9883 C=0.0117
Latin American 1 Sub 1198 T=0.8247 C=0.1753
Latin American 2 Sub 6924 T=0.8453 C=0.1547
South Asian Sub 5050 T=0.8768 C=0.1232
Other Sub 21306 T=0.76331 C=0.23669


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=0.822759 C=0.177241
gnomAD - Exomes Global Study-wide 251340 T=0.797577 C=0.202423
gnomAD - Exomes European Sub 135310 T=0.735319 C=0.264681
gnomAD - Exomes Asian Sub 48998 T=0.92194 C=0.07806
gnomAD - Exomes American Sub 34576 T=0.85180 C=0.14820
gnomAD - Exomes African Sub 16252 T=0.95551 C=0.04449
gnomAD - Exomes Ashkenazi Jewish Sub 10074 T=0.61604 C=0.38396
gnomAD - Exomes Other Sub 6130 T=0.7515 C=0.2485
gnomAD - Genomes Global Study-wide 140164 T=0.811093 C=0.188907
gnomAD - Genomes European Sub 75882 T=0.73940 C=0.26060
gnomAD - Genomes African Sub 42034 T=0.94757 C=0.05243
gnomAD - Genomes American Sub 13642 T=0.79922 C=0.20078
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.6164 C=0.3836
gnomAD - Genomes East Asian Sub 3134 T=0.9802 C=0.0198
gnomAD - Genomes Other Sub 2148 T=0.8031 C=0.1969
ExAC Global Study-wide 121368 T=0.800351 C=0.199649
ExAC Europe Sub 73322 T=0.72779 C=0.27221
ExAC Asian Sub 25164 T=0.91885 C=0.08115
ExAC American Sub 11574 T=0.86694 C=0.13306
ExAC African Sub 10402 T=0.95347 C=0.04653
ExAC Other Sub 906 T=0.773 C=0.227
The PAGE Study Global Study-wide 78694 T=0.89195 C=0.10805
The PAGE Study AfricanAmerican Sub 32512 T=0.94374 C=0.05626
The PAGE Study Mexican Sub 10808 T=0.85298 C=0.14702
The PAGE Study Asian Sub 8318 T=0.9859 C=0.0141
The PAGE Study PuertoRican Sub 7918 T=0.7778 C=0.2222
The PAGE Study NativeHawaiian Sub 4534 T=0.8880 C=0.1120
The PAGE Study Cuban Sub 4228 T=0.7550 C=0.2450
The PAGE Study Dominican Sub 3828 T=0.8352 C=0.1648
The PAGE Study CentralAmerican Sub 2450 T=0.8449 C=0.1551
The PAGE Study SouthAmerican Sub 1982 T=0.8239 C=0.1761
The PAGE Study NativeAmerican Sub 1260 T=0.8079 C=0.1921
The PAGE Study SouthAsian Sub 856 T=0.926 C=0.074
8.3KJPN JAPANESE Study-wide 16760 T=0.99374 C=0.00626
GO Exome Sequencing Project Global Study-wide 13006 T=0.80447 C=0.19553
GO Exome Sequencing Project European American Sub 8600 T=0.7319 C=0.2681
GO Exome Sequencing Project African American Sub 4406 T=0.9462 C=0.0538
1000Genomes Global Study-wide 5008 T=0.8922 C=0.1078
1000Genomes African Sub 1322 T=0.9871 C=0.0129
1000Genomes East Asian Sub 1008 T=0.9673 C=0.0327
1000Genomes Europe Sub 1006 T=0.7276 C=0.2724
1000Genomes South Asian Sub 978 T=0.927 C=0.073
1000Genomes American Sub 694 T=0.791 C=0.209
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.7728 C=0.2272
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.7410 C=0.2590
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.7389 C=0.2611
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.9860 C=0.0140
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.8306 C=0.1694
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.953 C=0.047
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.812 C=0.188
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.629 C=0.371
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.716 C=0.284
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.988 C=0.012
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.954 C=0.046
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.74 C=0.26
HapMap Global Study-wide 1892 T=0.8996 C=0.1004
HapMap American Sub 770 T=0.870 C=0.130
HapMap African Sub 692 T=0.954 C=0.046
HapMap Asian Sub 254 T=0.988 C=0.012
HapMap Europe Sub 176 T=0.688 C=0.312
Korean Genome Project KOREAN Study-wide 1832 T=0.9847 C=0.0153
Genome-wide autozygosity in Daghestan Global Study-wide 1136 T=0.7887 C=0.2113
Genome-wide autozygosity in Daghestan Daghestan Sub 628 T=0.815 C=0.185
Genome-wide autozygosity in Daghestan Near_East Sub 144 T=0.646 C=0.354
Genome-wide autozygosity in Daghestan Central Asia Sub 122 T=0.836 C=0.164
Genome-wide autozygosity in Daghestan Europe Sub 108 T=0.648 C=0.352
Genome-wide autozygosity in Daghestan South Asian Sub 98 T=0.98 C=0.02
Genome-wide autozygosity in Daghestan Caucasus Sub 36 T=0.64 C=0.36
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.757 C=0.243
CNV burdens in cranial meningiomas Global Study-wide 784 T=0.971 C=0.029
CNV burdens in cranial meningiomas CRM Sub 784 T=0.971 C=0.029
A Vietnamese Genetic Variation Database Global Study-wide 612 T=0.953 C=0.047
Northern Sweden ACPOP Study-wide 600 T=0.763 C=0.237
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.699 C=0.301
FINRISK Finnish from FINRISK project Study-wide 304 T=0.678 C=0.322
Qatari Global Study-wide 216 T=0.745 C=0.255
SGDP_PRJ Global Study-wide 146 T=0.404 C=0.596
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 52 T=0.65 C=0.35
The Danish reference pan genome Danish Study-wide 40 T=0.78 C=0.23
Siberian Global Study-wide 18 T=0.39 C=0.61
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= C
GRCh38.p13 chr 1 NC_000001.11:g.25243590= NC_000001.11:g.25243590T>C
GRCh37.p13 chr 1 NC_000001.10:g.25570081= NC_000001.10:g.25570081T>C
RSRP1 transcript variant 2 NM_020317.5:c.716= NM_020317.5:c.716A>G
RSRP1 transcript variant 2 NM_020317.4:c.716= NM_020317.4:c.716A>G
RSRP1 transcript NM_020317.3:c.716= NM_020317.3:c.716A>G
RSRP1 transcript variant 17 NR_135789.2:n.3513= NR_135789.2:n.3513A>G
RSRP1 transcript variant 17 NR_135789.1:n.3513= NR_135789.1:n.3513A>G
RSRP1 transcript variant 15 NR_135787.2:n.2633= NR_135787.2:n.2633A>G
RSRP1 transcript variant 15 NR_135787.1:n.2633= NR_135787.1:n.2633A>G
RSRP1 transcript variant 16 NR_135788.2:n.2575= NR_135788.2:n.2575A>G
RSRP1 transcript variant 16 NR_135788.1:n.2575= NR_135788.1:n.2575A>G
RSRP1 transcript variant 5 NR_135777.2:n.2484= NR_135777.2:n.2484A>G
RSRP1 transcript variant 5 NR_135777.1:n.2484= NR_135777.1:n.2484A>G
RSRP1 transcript variant 3 NR_135143.2:n.2444= NR_135143.2:n.2444A>G
RSRP1 transcript variant 3 NR_135143.1:n.2509= NR_135143.1:n.2509A>G
RSRP1 transcript variant 11 NR_135784.2:n.2444= NR_135784.2:n.2444A>G
RSRP1 transcript variant 11 NR_135784.1:n.2509= NR_135784.1:n.2509A>G
RSRP1 transcript variant 13 NR_135786.2:n.2444= NR_135786.2:n.2444A>G
RSRP1 transcript variant 13 NR_135786.1:n.2509= NR_135786.1:n.2509A>G
RSRP1 transcript variant X2 XR_946709.2:n.2246= XR_946709.2:n.2246A>G
RSRP1 transcript variant 14 NM_001321772.2:c.716= NM_001321772.2:c.716A>G
RSRP1 transcript variant 14 NM_001321772.1:c.716= NM_001321772.1:c.716A>G
RSRP1 transcript variant 7 NR_135780.2:n.1897= NR_135780.2:n.1897A>G
RSRP1 transcript variant 7 NR_135780.1:n.1962= NR_135780.1:n.1962A>G
RSRP1 transcript variant 6 NR_135778.2:n.1793= NR_135778.2:n.1793A>G
RSRP1 transcript variant 6 NR_135778.1:n.1858= NR_135778.1:n.1858A>G
RSRP1 transcript variant 8 NR_135781.2:n.1564= NR_135781.2:n.1564A>G
RSRP1 transcript variant 8 NR_135781.1:n.1629= NR_135781.1:n.1629A>G
RSRP1 transcript variant 4 NR_135144.2:n.1519= NR_135144.2:n.1519A>G
RSRP1 transcript variant 4 NR_135144.1:n.1584= NR_135144.1:n.1584A>G
RSRP1 transcript variant 9 NR_135782.2:n.1246= NR_135782.2:n.1246A>G
RSRP1 transcript variant 9 NR_135782.1:n.1311= NR_135782.1:n.1311A>G
RSRP1 transcript variant 10 NR_135783.2:n.973= NR_135783.2:n.973A>G
RSRP1 transcript variant 10 NR_135783.1:n.1038= NR_135783.1:n.1038A>G
RSRP1 transcript variant 12 NR_135785.2:n.972= NR_135785.2:n.972A>G
RSRP1 transcript variant 12 NR_135785.1:n.1037= NR_135785.1:n.1037A>G
Protein-coding transcripts NM_207035.1:c.*1504= NM_207035.1:c.*1504A>G
RSRP1 transcript variant X1 XM_011541797.1:c.716= XM_011541797.1:c.716A>G
arginine/serine-rich protein 1 NP_064713.3:p.Glu239= NP_064713.3:p.Glu239Gly
arginine/serine-rich protein 1 NP_001308701.1:p.Glu239= NP_001308701.1:p.Glu239Gly
arginine/serine-rich protein 1 isoform X1 XP_011540099.1:p.Glu239= XP_011540099.1:p.Glu239Gly
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#.

153 SubSNP, 28 Frequency submissions
No Submitter Submission ID Date (Build)
1 SSAHASNP ss20516951 Apr 05, 2004 (121)
2 MGC_GENOME_DIFF ss28497317 Sep 24, 2004 (126)
3 MGC_GENOME_DIFF ss28511964 Sep 24, 2004 (126)
4 MGC_GENOME_DIFF ss28514089 Sep 24, 2004 (126)
5 ABI ss43830505 Mar 11, 2006 (126)
6 PERLEGEN ss46536620 Mar 11, 2006 (126)
7 ILLUMINA ss65724647 Oct 15, 2006 (127)
8 ILLUMINA ss66600409 Nov 30, 2006 (127)
9 ILLUMINA ss66883163 Nov 30, 2006 (127)
10 ILLUMINA ss66977238 Nov 30, 2006 (127)
11 PERLEGEN ss68761794 May 17, 2007 (127)
12 ILLUMINA ss70365694 May 17, 2007 (127)
13 ILLUMINA ss70478875 May 23, 2008 (130)
14 ILLUMINA ss71002259 May 17, 2007 (127)
15 ILLUMINA ss75448759 Dec 06, 2007 (129)
16 KRIBB_YJKIM ss83672488 Dec 14, 2007 (130)
17 BCMHGSC_JDW ss87311092 Mar 23, 2008 (129)
18 HUMANGENOME_JCVI ss99195131 Feb 04, 2009 (130)
19 1000GENOMES ss108072687 Jan 22, 2009 (130)
20 ILLUMINA ss121305871 Dec 01, 2009 (131)
21 ENSEMBL ss131776584 Dec 01, 2009 (131)
22 ENSEMBL ss137851834 Dec 01, 2009 (131)
23 ILLUMINA ss152726232 Dec 01, 2009 (131)
24 ILLUMINA ss159123647 Dec 01, 2009 (131)
25 ILLUMINA ss159893799 Dec 01, 2009 (131)
26 COMPLETE_GENOMICS ss166262531 Jul 04, 2010 (132)
27 ILLUMINA ss169385901 Jul 04, 2010 (132)
28 ILLUMINA ss170080291 Jul 04, 2010 (132)
29 1000GENOMES ss217314510 Jul 14, 2010 (132)
30 1000GENOMES ss217390971 Jul 14, 2010 (132)
31 1000GENOMES ss217400112 Jul 14, 2010 (132)
32 1000GENOMES ss217410642 Jul 14, 2010 (132)
33 1000GENOMES ss217411246 Jul 14, 2010 (132)
34 1000GENOMES ss230466992 Jul 14, 2010 (132)
35 BL ss252992685 May 09, 2011 (134)
36 PJP ss290793004 May 09, 2011 (134)
37 NHLBI-ESP ss341945835 May 09, 2011 (134)
38 ILLUMINA ss410886756 Sep 17, 2011 (135)
39 ILLUMINA ss479267209 May 04, 2012 (137)
40 ILLUMINA ss479270141 May 04, 2012 (137)
41 ILLUMINA ss479641055 Sep 08, 2015 (146)
42 ILLUMINA ss484434249 May 04, 2012 (137)
43 1000GENOMES ss489729181 May 04, 2012 (137)
44 EXOME_CHIP ss491289410 May 04, 2012 (137)
45 CLINSEQ_SNP ss491589262 May 04, 2012 (137)
46 ILLUMINA ss536605151 Sep 08, 2015 (146)
47 SSMP ss647648096 Apr 25, 2013 (138)
48 ILLUMINA ss778355937 Sep 08, 2015 (146)
49 ILLUMINA ss780818722 Sep 08, 2015 (146)
50 ILLUMINA ss782663590 Sep 08, 2015 (146)
51 ILLUMINA ss783501062 Sep 08, 2015 (146)
52 ILLUMINA ss783632450 Sep 08, 2015 (146)
53 ILLUMINA ss825335425 Apr 01, 2015 (144)
54 ILLUMINA ss831914142 Sep 08, 2015 (146)
55 ILLUMINA ss832636363 Jul 12, 2019 (153)
56 ILLUMINA ss833810680 Sep 08, 2015 (146)
57 JMKIDD_LAB ss974434086 Aug 21, 2014 (142)
58 EVA-GONL ss974960034 Aug 21, 2014 (142)
59 JMKIDD_LAB ss1067418338 Aug 21, 2014 (142)
60 JMKIDD_LAB ss1067744136 Aug 21, 2014 (142)
61 1000GENOMES ss1290087738 Aug 21, 2014 (142)
62 HAMMER_LAB ss1397241733 Sep 08, 2015 (146)
63 DDI ss1425750271 Apr 01, 2015 (144)
64 EVA_GENOME_DK ss1573948942 Apr 01, 2015 (144)
65 EVA_FINRISK ss1584006047 Apr 01, 2015 (144)
66 EVA_DECODE ss1584318936 Apr 01, 2015 (144)
67 EVA_UK10K_ALSPAC ss1599754306 Apr 01, 2015 (144)
68 EVA_UK10K_TWINSUK ss1642748339 Apr 01, 2015 (144)
69 EVA_EXAC ss1685398340 Apr 01, 2015 (144)
70 EVA_MGP ss1710895994 Apr 01, 2015 (144)
71 EVA_SVP ss1712318951 Apr 01, 2015 (144)
72 ILLUMINA ss1751912836 Sep 08, 2015 (146)
73 ILLUMINA ss1751912837 Sep 08, 2015 (146)
74 ILLUMINA ss1917724996 Feb 12, 2016 (147)
75 WEILL_CORNELL_DGM ss1918171693 Feb 12, 2016 (147)
76 ILLUMINA ss1945988609 Feb 12, 2016 (147)
77 ILLUMINA ss1958254268 Feb 12, 2016 (147)
78 AMU ss1966653999 Feb 12, 2016 (147)
79 GENOMED ss1966707842 Jul 19, 2016 (147)
80 JJLAB ss2019598048 Sep 14, 2016 (149)
81 USC_VALOUEV ss2147604066 Dec 20, 2016 (150)
82 HUMAN_LONGEVITY ss2160835697 Dec 20, 2016 (150)
83 TOPMED ss2323021352 Dec 20, 2016 (150)
84 ILLUMINA ss2632491819 Nov 08, 2017 (151)
85 ILLUMINA ss2632491820 Nov 08, 2017 (151)
86 ILLUMINA ss2632491821 Nov 08, 2017 (151)
87 GRF ss2697509670 Nov 08, 2017 (151)
88 GNOMAD ss2731264142 Nov 08, 2017 (151)
89 GNOMAD ss2746261932 Nov 08, 2017 (151)
90 GNOMAD ss2752818211 Nov 08, 2017 (151)
91 AFFY ss2984850814 Nov 08, 2017 (151)
92 AFFY ss2985503327 Nov 08, 2017 (151)
93 SWEGEN ss2986488296 Nov 08, 2017 (151)
94 ILLUMINA ss3021067920 Nov 08, 2017 (151)
95 BIOINF_KMB_FNS_UNIBA ss3023564835 Nov 08, 2017 (151)
96 TOPMED ss3071283738 Nov 08, 2017 (151)
97 CSHL ss3343373437 Nov 08, 2017 (151)
98 ILLUMINA ss3626051708 Oct 11, 2018 (152)
99 ILLUMINA ss3626051709 Oct 11, 2018 (152)
100 ILLUMINA ss3630529218 Oct 11, 2018 (152)
101 ILLUMINA ss3632884804 Oct 11, 2018 (152)
102 ILLUMINA ss3633578927 Oct 11, 2018 (152)
103 ILLUMINA ss3634313448 Oct 11, 2018 (152)
104 ILLUMINA ss3634313449 Oct 11, 2018 (152)
105 ILLUMINA ss3635272948 Oct 11, 2018 (152)
106 ILLUMINA ss3635989561 Oct 11, 2018 (152)
107 ILLUMINA ss3637023330 Oct 11, 2018 (152)
108 ILLUMINA ss3637743923 Oct 11, 2018 (152)
109 ILLUMINA ss3638892791 Oct 11, 2018 (152)
110 ILLUMINA ss3639443494 Oct 11, 2018 (152)
111 ILLUMINA ss3640020812 Oct 11, 2018 (152)
112 ILLUMINA ss3640020813 Oct 11, 2018 (152)
113 ILLUMINA ss3642757181 Oct 11, 2018 (152)
114 ILLUMINA ss3644484477 Oct 11, 2018 (152)
115 OMUKHERJEE_ADBS ss3646227236 Oct 11, 2018 (152)
116 URBANLAB ss3646626191 Oct 11, 2018 (152)
117 ILLUMINA ss3651393338 Oct 11, 2018 (152)
118 ILLUMINA ss3651393339 Oct 11, 2018 (152)
119 ILLUMINA ss3653623877 Oct 11, 2018 (152)
120 EGCUT_WGS ss3654555040 Jul 12, 2019 (153)
121 EVA_DECODE ss3686374643 Jul 12, 2019 (153)
122 ILLUMINA ss3725007195 Jul 12, 2019 (153)
123 ACPOP ss3726880569 Jul 12, 2019 (153)
124 ILLUMINA ss3744341758 Jul 12, 2019 (153)
125 ILLUMINA ss3744614404 Jul 12, 2019 (153)
126 ILLUMINA ss3744614405 Jul 12, 2019 (153)
127 EVA ss3745956765 Jul 12, 2019 (153)
128 PAGE_CC ss3770794296 Jul 12, 2019 (153)
129 ILLUMINA ss3772115957 Jul 12, 2019 (153)
130 ILLUMINA ss3772115958 Jul 12, 2019 (153)
131 PACBIO ss3783357559 Jul 12, 2019 (153)
132 PACBIO ss3789026479 Jul 12, 2019 (153)
133 PACBIO ss3793898984 Jul 12, 2019 (153)
134 KHV_HUMAN_GENOMES ss3798976917 Jul 12, 2019 (153)
135 EVA ss3823579705 Apr 25, 2020 (154)
136 EVA ss3825558108 Apr 25, 2020 (154)
137 EVA ss3826078430 Apr 25, 2020 (154)
138 EVA ss3836427325 Apr 25, 2020 (154)
139 EVA ss3841832122 Apr 25, 2020 (154)
140 HGDP ss3847327794 Apr 25, 2020 (154)
141 SGDP_PRJ ss3848437229 Apr 25, 2020 (154)
142 KRGDB ss3893357082 Apr 25, 2020 (154)
143 KOGIC ss3944065775 Apr 25, 2020 (154)
144 FSA-LAB ss3983923429 Apr 25, 2021 (155)
145 FSA-LAB ss3983923430 Apr 25, 2021 (155)
146 EVA ss3984454067 Apr 25, 2021 (155)
147 EVA ss3984784985 Apr 25, 2021 (155)
148 EVA ss3986009780 Apr 25, 2021 (155)
149 EVA ss3986108039 Apr 25, 2021 (155)
150 EVA ss4016899024 Apr 25, 2021 (155)
151 TOPMED ss4442595714 Apr 25, 2021 (155)
152 TOMMO_GENOMICS ss5142993729 Apr 25, 2021 (155)
153 EVA ss5236866384 Apr 25, 2021 (155)
154 1000Genomes NC_000001.10 - 25570081 Oct 11, 2018 (152)
155 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 25570081 Oct 11, 2018 (152)
156 Genome-wide autozygosity in Daghestan NC_000001.9 - 25442668 Apr 25, 2020 (154)
157 Genetic variation in the Estonian population NC_000001.10 - 25570081 Oct 11, 2018 (152)
158 ExAC NC_000001.10 - 25570081 Oct 11, 2018 (152)
159 FINRISK NC_000001.10 - 25570081 Apr 25, 2020 (154)
160 The Danish reference pan genome NC_000001.10 - 25570081 Apr 25, 2020 (154)
161 gnomAD - Genomes NC_000001.11 - 25243590 Apr 25, 2021 (155)
162 gnomAD - Exomes NC_000001.10 - 25570081 Jul 12, 2019 (153)
163 GO Exome Sequencing Project NC_000001.10 - 25570081 Oct 11, 2018 (152)
164 Genome of the Netherlands Release 5 NC_000001.10 - 25570081 Apr 25, 2020 (154)
165 HGDP-CEPH-db Supplement 1 NC_000001.9 - 25442668 Apr 25, 2020 (154)
166 HapMap NC_000001.11 - 25243590 Apr 25, 2020 (154)
167 KOREAN population from KRGDB NC_000001.10 - 25570081 Apr 25, 2020 (154)
168 Korean Genome Project NC_000001.11 - 25243590 Apr 25, 2020 (154)
169 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 25570081 Apr 25, 2020 (154)
170 Northern Sweden NC_000001.10 - 25570081 Jul 12, 2019 (153)
171 The PAGE Study NC_000001.11 - 25243590 Jul 12, 2019 (153)
172 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 25570081 Apr 25, 2021 (155)
173 CNV burdens in cranial meningiomas NC_000001.10 - 25570081 Apr 25, 2021 (155)
174 Qatari NC_000001.10 - 25570081 Apr 25, 2020 (154)
175 SGDP_PRJ NC_000001.10 - 25570081 Apr 25, 2020 (154)
176 Siberian NC_000001.10 - 25570081 Apr 25, 2020 (154)
177 8.3KJPN NC_000001.10 - 25570081 Apr 25, 2021 (155)
178 TopMed NC_000001.11 - 25243590 Apr 25, 2021 (155)
179 UK 10K study - Twins NC_000001.10 - 25570081 Oct 11, 2018 (152)
180 A Vietnamese Genetic Variation Database NC_000001.10 - 25570081 Jul 12, 2019 (153)
181 ALFA NC_000001.11 - 25243590 Apr 25, 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)
rs17844932 Mar 11, 2006 (126)
rs17857662 Mar 11, 2006 (126)
rs17859787 Mar 11, 2006 (126)
rs57469912 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3638892791, ss3639443494 NC_000001.8:25315386:T:C NC_000001.11:25243589:T:C (self)
3200, 5686, ss87311092, ss108072687, ss166262531, ss217314510, ss217390971, ss217400112, ss217410642, ss217411246, ss252992685, ss290793004, ss479267209, ss491589262, ss825335425, ss1397241733, ss1584318936, ss1712318951, ss3642757181, ss3847327794 NC_000001.9:25442667:T:C NC_000001.11:25243589:T:C (self)
777658, 414263, 293288, 4583994, 2508, 1430890, 278010, 38409, 179513, 534476, 12746, 165434, 10912, 3369, 213623, 454209, 120420, 963036, 414263, 87323, ss230466992, ss341945835, ss479270141, ss479641055, ss484434249, ss489729181, ss491289410, ss536605151, ss647648096, ss778355937, ss780818722, ss782663590, ss783501062, ss783632450, ss831914142, ss832636363, ss833810680, ss974434086, ss974960034, ss1067418338, ss1067744136, ss1290087738, ss1425750271, ss1573948942, ss1584006047, ss1599754306, ss1642748339, ss1685398340, ss1710895994, ss1751912836, ss1751912837, ss1917724996, ss1918171693, ss1945988609, ss1958254268, ss1966653999, ss1966707842, ss2019598048, ss2147604066, ss2323021352, ss2632491819, ss2632491820, ss2632491821, ss2697509670, ss2731264142, ss2746261932, ss2752818211, ss2984850814, ss2985503327, ss2986488296, ss3021067920, ss3343373437, ss3626051708, ss3626051709, ss3630529218, ss3632884804, ss3633578927, ss3634313448, ss3634313449, ss3635272948, ss3635989561, ss3637023330, ss3637743923, ss3640020812, ss3640020813, ss3644484477, ss3646227236, ss3651393338, ss3651393339, ss3653623877, ss3654555040, ss3726880569, ss3744341758, ss3744614404, ss3744614405, ss3745956765, ss3772115957, ss3772115958, ss3783357559, ss3789026479, ss3793898984, ss3823579705, ss3825558108, ss3826078430, ss3836427325, ss3848437229, ss3893357082, ss3983923429, ss3983923430, ss3984454067, ss3984784985, ss3986009780, ss3986108039, ss4016899024, ss5142993729 NC_000001.10:25570080:T:C NC_000001.11:25243589:T:C (self)
5438497, 32556, 443776, 15765, 3900898, 6202049, 5120072693, ss2160835697, ss3023564835, ss3071283738, ss3646626191, ss3686374643, ss3725007195, ss3770794296, ss3798976917, ss3841832122, ss3944065775, ss4442595714, ss5236866384 NC_000001.11:25243589:T:C NC_000001.11:25243589:T:C (self)
ss28497317, ss28511964, ss28514089, ss43830505, ss46536620, ss65724647, ss66600409, ss66883163, ss66977238, ss68761794, ss70365694, ss70478875, ss71002259, ss75448759, ss83672488, ss99195131, ss121305871, ss131776584, ss137851834, ss152726232, ss159123647, ss159893799, ss169385901, ss170080291, ss410886756 NT_004610.19:12250168:T:C NC_000001.11:25243589:T:C (self)
ss20516951 NT_077383.3:1206125:T:C NC_000001.11:25243589:T:C (self)
Help

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

3 citations for rs1043879
PMID Title Author Year Journal
21700265 Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate. Kullo IJ et al. 2011 American journal of human genetics
23856853 Association of a complement receptor 1 gene variant with baseline erythrocyte sedimentation rate levels in patients starting anti-TNF therapy in a UK rheumatoid arthritis cohort: results from the Biologics in Rheumatoid Arthritis Genetics and Genomics Study Syndicate cohort. Bluett J et al. 2014 The pharmacogenomics journal
24987407 eMERGEing progress in genomics-the first seven years. Crawford DC et al. 2014 Frontiers in genetics
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