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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.

rs2275822

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:3844915 (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 / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.371703 (98386/264690, TOPMED)
T=0.417629 (69034/165300, ALFA)
T=0.43693 (7323/16760, 8.3KJPN) (+ 17 more)
T=0.37667 (4899/13006, GO-ESP)
T=0.3494 (1750/5008, 1000G)
T=0.4212 (1887/4480, Estonian)
T=0.4385 (1690/3854, ALSPAC)
T=0.4412 (1636/3708, TWINSUK)
T=0.3444 (1009/2930, KOREAN)
T=0.3294 (622/1888, HapMap)
T=0.417 (416/998, GoNL)
T=0.278 (169/608, Vietnamese)
T=0.442 (265/600, NorthernSweden)
T=0.455 (243/534, MGP)
C=0.363 (111/306, SGDP_PRJ)
T=0.319 (97/304, FINRISK)
T=0.264 (57/216, Qatari)
T=0.37 (32/86, Ancient Sardinia)
T=0.35 (14/40, GENOME_DK)
C=0.41 (13/32, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CEP104 : Synonymous 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 1 NC_000001.11:g.3844915C>G
GRCh38.p13 chr 1 NC_000001.11:g.3844915C>T
GRCh37.p13 chr 1 NC_000001.10:g.3761479C>G
GRCh37.p13 chr 1 NC_000001.10:g.3761479C>T
CEP104 RefSeqGene NG_046726.1:g.17319G>C
CEP104 RefSeqGene NG_046726.1:g.17319G>A
Gene: CEP104, centrosomal protein 104 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CEP104 transcript NM_014704.4:c.558G>C T [ACG] > T [ACC] Coding Sequence Variant
centrosomal protein of 104 kDa NP_055519.1:p.Thr186= T (Thr) > T (Thr) Synonymous Variant
CEP104 transcript NM_014704.4:c.558G>A T [ACG] > T [ACA] Coding Sequence Variant
centrosomal protein of 104 kDa NP_055519.1:p.Thr186= T (Thr) > T (Thr) Synonymous Variant
CEP104 transcript variant X2 XM_005244815.4:c.666G>C T [ACG] > T [ACC] Coding Sequence Variant
centrosomal protein of 104 kDa isoform X2 XP_005244872.1:p.Thr222= T (Thr) > T (Thr) Synonymous Variant
CEP104 transcript variant X2 XM_005244815.4:c.666G>A T [ACG] > T [ACA] Coding Sequence Variant
centrosomal protein of 104 kDa isoform X2 XP_005244872.1:p.Thr222= T (Thr) > T (Thr) Synonymous Variant
CEP104 transcript variant X1 XM_024451101.1:c.684G>C T [ACG] > T [ACC] Coding Sequence Variant
centrosomal protein of 104 kDa isoform X1 XP_024306869.1:p.Thr228= T (Thr) > T (Thr) Synonymous Variant
CEP104 transcript variant X1 XM_024451101.1:c.684G>A T [ACG] > T [ACA] Coding Sequence Variant
centrosomal protein of 104 kDa isoform X1 XP_024306869.1:p.Thr228= T (Thr) > T (Thr) Synonymous Variant
CEP104 transcript variant X3 XM_011542474.3:c.576G>C T [ACG] > T [ACC] Coding Sequence Variant
centrosomal protein of 104 kDa isoform X3 XP_011540776.1:p.Thr192= T (Thr) > T (Thr) Synonymous Variant
CEP104 transcript variant X3 XM_011542474.3:c.576G>A T [ACG] > T [ACA] Coding Sequence Variant
centrosomal protein of 104 kDa isoform X3 XP_011540776.1:p.Thr192= T (Thr) > T (Thr) Synonymous Variant
CEP104 transcript variant X4 XM_024451102.1:c.684G>C T [ACG] > T [ACC] Coding Sequence Variant
centrosomal protein of 104 kDa isoform X4 XP_024306870.1:p.Thr228= T (Thr) > T (Thr) Synonymous Variant
CEP104 transcript variant X4 XM_024451102.1:c.684G>A T [ACG] > T [ACA] Coding Sequence Variant
centrosomal protein of 104 kDa isoform X4 XP_024306870.1:p.Thr228= T (Thr) > T (Thr) Synonymous Variant
CEP104 transcript variant X5 XM_024451103.1:c.666G>C T [ACG] > T [ACC] Coding Sequence Variant
centrosomal protein of 104 kDa isoform X5 XP_024306871.1:p.Thr222= T (Thr) > T (Thr) Synonymous Variant
CEP104 transcript variant X5 XM_024451103.1:c.666G>A T [ACG] > T [ACA] Coding Sequence Variant
centrosomal protein of 104 kDa isoform X5 XP_024306871.1:p.Thr222= T (Thr) > T (Thr) Synonymous Variant
CEP104 transcript variant X6 XM_024451104.1:c.684G>C T [ACG] > T [ACC] Coding Sequence Variant
centrosomal protein of 104 kDa isoform X6 XP_024306872.1:p.Thr228= T (Thr) > T (Thr) Synonymous Variant
CEP104 transcript variant X6 XM_024451104.1:c.684G>A T [ACG] > T [ACA] Coding Sequence Variant
centrosomal protein of 104 kDa isoform X6 XP_024306872.1:p.Thr228= T (Thr) > T (Thr) Synonymous Variant
CEP104 transcript variant X7 XM_017002918.2:c.558G>C T [ACG] > T [ACC] Coding Sequence Variant
centrosomal protein of 104 kDa isoform X7 XP_016858407.1:p.Thr186= T (Thr) > T (Thr) Synonymous Variant
CEP104 transcript variant X7 XM_017002918.2:c.558G>A T [ACG] > T [ACA] Coding Sequence Variant
centrosomal protein of 104 kDa isoform X7 XP_016858407.1:p.Thr186= T (Thr) > T (Thr) Synonymous Variant
CEP104 transcript variant X8 XM_017002919.2:c.558G>C T [ACG] > T [ACC] Coding Sequence Variant
centrosomal protein of 104 kDa isoform X8 XP_016858408.1:p.Thr186= T (Thr) > T (Thr) Synonymous Variant
CEP104 transcript variant X8 XM_017002919.2:c.558G>A T [ACG] > T [ACA] Coding Sequence Variant
centrosomal protein of 104 kDa isoform X8 XP_016858408.1:p.Thr186= T (Thr) > T (Thr) Synonymous Variant
CEP104 transcript variant X9 XM_024451106.1:c.684G>C T [ACG] > T [ACC] Coding Sequence Variant
centrosomal protein of 104 kDa isoform X9 XP_024306874.1:p.Thr228= T (Thr) > T (Thr) Synonymous Variant
CEP104 transcript variant X9 XM_024451106.1:c.684G>A T [ACG] > T [ACA] Coding Sequence Variant
centrosomal protein of 104 kDa isoform X9 XP_024306874.1:p.Thr228= T (Thr) > T (Thr) Synonymous Variant
CEP104 transcript variant X10 XM_024451108.1:c.684G>C T [ACG] > T [ACC] Coding Sequence Variant
centrosomal protein of 104 kDa isoform X10 XP_024306876.1:p.Thr228= T (Thr) > T (Thr) Synonymous Variant
CEP104 transcript variant X10 XM_024451108.1:c.684G>A T [ACG] > T [ACA] Coding Sequence Variant
centrosomal protein of 104 kDa isoform X10 XP_024306876.1:p.Thr228= T (Thr) > T (Thr) Synonymous 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 165300 C=0.582371 G=0.000000, T=0.417629
European Sub 139212 C=0.569728 G=0.000000, T=0.430272
African Sub 6062 C=0.8057 G=0.0000, T=0.1943
African Others Sub 212 C=0.830 G=0.000, T=0.170
African American Sub 5850 C=0.8048 G=0.0000, T=0.1952
Asian Sub 622 C=0.685 G=0.000, T=0.315
East Asian Sub 480 C=0.679 G=0.000, T=0.321
Other Asian Sub 142 C=0.704 G=0.000, T=0.296
Latin American 1 Sub 1036 C=0.6670 G=0.0000, T=0.3330
Latin American 2 Sub 5912 C=0.5776 G=0.0000, T=0.4224
South Asian Sub 142 C=0.852 G=0.000, T=0.148
Other Sub 12314 C=0.60224 G=0.00000, T=0.39776


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=0.628297 T=0.371703
8.3KJPN JAPANESE Study-wide 16760 C=0.56307 T=0.43693
GO Exome Sequencing Project Global Study-wide 13006 C=0.62333 T=0.37667
GO Exome Sequencing Project European American Sub 8600 C=0.5652 T=0.4348
GO Exome Sequencing Project African American Sub 4406 C=0.7367 T=0.2633
1000Genomes Global Study-wide 5008 C=0.6506 T=0.3494
1000Genomes African Sub 1322 C=0.7655 T=0.2345
1000Genomes East Asian Sub 1008 C=0.6617 T=0.3383
1000Genomes Europe Sub 1006 C=0.5706 T=0.4294
1000Genomes South Asian Sub 978 C=0.668 T=0.332
1000Genomes American Sub 694 C=0.507 T=0.493
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.5788 T=0.4212
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.5615 T=0.4385
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.5588 T=0.4412
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.6556 T=0.3444
HapMap Global Study-wide 1888 C=0.6706 T=0.3294
HapMap American Sub 766 C=0.608 T=0.392
HapMap African Sub 692 C=0.780 T=0.220
HapMap Asian Sub 254 C=0.602 T=0.398
HapMap Europe Sub 176 C=0.608 T=0.392
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.583 T=0.417
A Vietnamese Genetic Variation Database Global Study-wide 608 C=0.722 T=0.278
Northern Sweden ACPOP Study-wide 600 C=0.558 T=0.442
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.545 T=0.455
SGDP_PRJ Global Study-wide 306 C=0.363 T=0.637
FINRISK Finnish from FINRISK project Study-wide 304 C=0.681 T=0.319
Qatari Global Study-wide 216 C=0.736 T=0.264
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 86 C=0.63 T=0.37
The Danish reference pan genome Danish Study-wide 40 C=0.65 T=0.35
Siberian Global Study-wide 32 C=0.41 T=0.59
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 T
GRCh38.p13 chr 1 NC_000001.11:g.3844915= NC_000001.11:g.3844915C>G NC_000001.11:g.3844915C>T
GRCh37.p13 chr 1 NC_000001.10:g.3761479= NC_000001.10:g.3761479C>G NC_000001.10:g.3761479C>T
CEP104 RefSeqGene NG_046726.1:g.17319= NG_046726.1:g.17319G>C NG_046726.1:g.17319G>A
CEP104 transcript NM_014704.4:c.558= NM_014704.4:c.558G>C NM_014704.4:c.558G>A
CEP104 transcript NM_014704.3:c.558= NM_014704.3:c.558G>C NM_014704.3:c.558G>A
CEP104 transcript variant X2 XM_005244815.4:c.666= XM_005244815.4:c.666G>C XM_005244815.4:c.666G>A
CEP104 transcript variant X1 XM_005244815.1:c.666= XM_005244815.1:c.666G>C XM_005244815.1:c.666G>A
CEP104 transcript variant X3 XM_011542474.3:c.576= XM_011542474.3:c.576G>C XM_011542474.3:c.576G>A
CEP104 transcript variant X7 XM_017002918.2:c.558= XM_017002918.2:c.558G>C XM_017002918.2:c.558G>A
CEP104 transcript variant X8 XM_017002919.2:c.558= XM_017002919.2:c.558G>C XM_017002919.2:c.558G>A
CEP104 transcript variant X1 XM_024451101.1:c.684= XM_024451101.1:c.684G>C XM_024451101.1:c.684G>A
CEP104 transcript variant X4 XM_024451102.1:c.684= XM_024451102.1:c.684G>C XM_024451102.1:c.684G>A
CEP104 transcript variant X5 XM_024451103.1:c.666= XM_024451103.1:c.666G>C XM_024451103.1:c.666G>A
CEP104 transcript variant X6 XM_024451104.1:c.684= XM_024451104.1:c.684G>C XM_024451104.1:c.684G>A
CEP104 transcript variant X9 XM_024451106.1:c.684= XM_024451106.1:c.684G>C XM_024451106.1:c.684G>A
CEP104 transcript variant X10 XM_024451108.1:c.684= XM_024451108.1:c.684G>C XM_024451108.1:c.684G>A
centrosomal protein of 104 kDa NP_055519.1:p.Thr186= NP_055519.1:p.Thr186= NP_055519.1:p.Thr186=
centrosomal protein of 104 kDa isoform X2 XP_005244872.1:p.Thr222= XP_005244872.1:p.Thr222= XP_005244872.1:p.Thr222=
centrosomal protein of 104 kDa isoform X3 XP_011540776.1:p.Thr192= XP_011540776.1:p.Thr192= XP_011540776.1:p.Thr192=
centrosomal protein of 104 kDa isoform X7 XP_016858407.1:p.Thr186= XP_016858407.1:p.Thr186= XP_016858407.1:p.Thr186=
centrosomal protein of 104 kDa isoform X8 XP_016858408.1:p.Thr186= XP_016858408.1:p.Thr186= XP_016858408.1:p.Thr186=
centrosomal protein of 104 kDa isoform X1 XP_024306869.1:p.Thr228= XP_024306869.1:p.Thr228= XP_024306869.1:p.Thr228=
centrosomal protein of 104 kDa isoform X4 XP_024306870.1:p.Thr228= XP_024306870.1:p.Thr228= XP_024306870.1:p.Thr228=
centrosomal protein of 104 kDa isoform X5 XP_024306871.1:p.Thr222= XP_024306871.1:p.Thr222= XP_024306871.1:p.Thr222=
centrosomal protein of 104 kDa isoform X6 XP_024306872.1:p.Thr228= XP_024306872.1:p.Thr228= XP_024306872.1:p.Thr228=
centrosomal protein of 104 kDa isoform X9 XP_024306874.1:p.Thr228= XP_024306874.1:p.Thr228= XP_024306874.1:p.Thr228=
centrosomal protein of 104 kDa isoform X10 XP_024306876.1:p.Thr228= XP_024306876.1:p.Thr228= XP_024306876.1:p.Thr228=
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#.

106 SubSNP, 26 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3212049 Sep 28, 2001 (100)
2 WI_SSAHASNP ss6396333 Feb 20, 2003 (111)
3 ILLUMINA ss75103714 Dec 06, 2007 (129)
4 HGSV ss81705876 Dec 15, 2007 (130)
5 CORNELL ss86239327 Mar 23, 2008 (129)
6 BCMHGSC_JDW ss87174756 Mar 23, 2008 (129)
7 1000GENOMES ss107949301 Jan 22, 2009 (130)
8 1000GENOMES ss109968289 Jan 24, 2009 (130)
9 ILLUMINA-UK ss118453805 Feb 14, 2009 (130)
10 KRIBB_YJKIM ss119426243 Dec 01, 2009 (131)
11 ENSEMBL ss137763810 Dec 01, 2009 (131)
12 GMI ss154559895 Dec 01, 2009 (131)
13 SEATTLESEQ ss159695857 Dec 01, 2009 (131)
14 ILLUMINA ss160526286 Dec 01, 2009 (131)
15 COMPLETE_GENOMICS ss163005444 Jul 04, 2010 (132)
16 COMPLETE_GENOMICS ss166009245 Jul 04, 2010 (132)
17 ILLUMINA ss173237935 Jul 04, 2010 (132)
18 1000GENOMES ss218203462 Jul 14, 2010 (132)
19 1000GENOMES ss230404312 Jul 14, 2010 (132)
20 1000GENOMES ss238123165 Jul 15, 2010 (132)
21 GMI ss275691590 May 04, 2012 (137)
22 GMI ss283991090 Apr 25, 2013 (138)
23 PJP ss290498423 May 09, 2011 (134)
24 NHLBI-ESP ss341927861 May 09, 2011 (134)
25 ILLUMINA ss480499497 May 04, 2012 (137)
26 ILLUMINA ss480513869 May 04, 2012 (137)
27 ILLUMINA ss481319481 Sep 08, 2015 (146)
28 ILLUMINA ss485047256 May 04, 2012 (137)
29 1000GENOMES ss489716833 May 04, 2012 (137)
30 CLINSEQ_SNP ss491582976 May 04, 2012 (137)
31 ILLUMINA ss537067097 Sep 08, 2015 (146)
32 TISHKOFF ss553734893 Apr 25, 2013 (138)
33 SSMP ss647536725 Apr 25, 2013 (138)
34 ILLUMINA ss778489134 Aug 21, 2014 (142)
35 ILLUMINA ss782969846 Aug 21, 2014 (142)
36 ILLUMINA ss783931474 Aug 21, 2014 (142)
37 ILLUMINA ss832226157 Apr 01, 2015 (144)
38 ILLUMINA ss833945111 Aug 21, 2014 (142)
39 JMKIDD_LAB ss974432814 Aug 21, 2014 (142)
40 EVA-GONL ss974796828 Aug 21, 2014 (142)
41 JMKIDD_LAB ss1067415257 Aug 21, 2014 (142)
42 JMKIDD_LAB ss1067627574 Aug 21, 2014 (142)
43 1000GENOMES ss1289452861 Aug 21, 2014 (142)
44 DDI ss1425693184 Apr 01, 2015 (144)
45 EVA_GENOME_DK ss1573860316 Apr 01, 2015 (144)
46 EVA_FINRISK ss1584004083 Apr 01, 2015 (144)
47 EVA_DECODE ss1584155561 Apr 01, 2015 (144)
48 EVA_UK10K_ALSPAC ss1599427984 Apr 01, 2015 (144)
49 EVA_UK10K_TWINSUK ss1642422017 Apr 01, 2015 (144)
50 EVA_EXAC ss1685263519 Apr 01, 2015 (144)
51 EVA_EXAC ss1685263520 Apr 01, 2015 (144)
52 EVA_MGP ss1710885733 Apr 01, 2015 (144)
53 EVA_SVP ss1712306801 Apr 01, 2015 (144)
54 ILLUMINA ss1751917995 Sep 08, 2015 (146)
55 WEILL_CORNELL_DGM ss1917992338 Feb 12, 2016 (147)
56 GENOMED ss1966671481 Jul 19, 2016 (147)
57 JJLAB ss2019512382 Sep 14, 2016 (149)
58 USC_VALOUEV ss2147502729 Dec 20, 2016 (150)
59 HUMAN_LONGEVITY ss2159576867 Dec 20, 2016 (150)
60 TOPMED ss2321731730 Dec 20, 2016 (150)
61 SYSTEMSBIOZJU ss2624271960 Nov 08, 2017 (151)
62 ILLUMINA ss2632468730 Nov 08, 2017 (151)
63 GRF ss2697396801 Nov 08, 2017 (151)
64 GNOMAD ss2731059407 Nov 08, 2017 (151)
65 GNOMAD ss2746195997 Nov 08, 2017 (151)
66 GNOMAD ss2750975247 Nov 08, 2017 (151)
67 SWEGEN ss2986201823 Nov 08, 2017 (151)
68 EVA_SAMSUNG_MC ss3023056128 Nov 08, 2017 (151)
69 BIOINF_KMB_FNS_UNIBA ss3023519827 Nov 08, 2017 (151)
70 TOPMED ss3067132820 Nov 08, 2017 (151)
71 TOPMED ss3067132821 Nov 08, 2017 (151)
72 CSHL ss3343289163 Nov 08, 2017 (151)
73 ILLUMINA ss3626012028 Oct 11, 2018 (152)
74 ILLUMINA ss3630508031 Oct 11, 2018 (152)
75 ILLUMINA ss3633572206 Oct 11, 2018 (152)
76 ILLUMINA ss3634303529 Oct 11, 2018 (152)
77 ILLUMINA ss3635266384 Oct 11, 2018 (152)
78 ILLUMINA ss3635979805 Oct 11, 2018 (152)
79 ILLUMINA ss3637016736 Oct 11, 2018 (152)
80 ILLUMINA ss3637733786 Oct 11, 2018 (152)
81 ILLUMINA ss3640010894 Oct 11, 2018 (152)
82 ILLUMINA ss3642747999 Oct 11, 2018 (152)
83 OMUKHERJEE_ADBS ss3646220242 Oct 11, 2018 (152)
84 EGCUT_WGS ss3654303015 Jul 12, 2019 (153)
85 EVA_DECODE ss3686047824 Jul 12, 2019 (153)
86 ACPOP ss3726740353 Jul 12, 2019 (153)
87 ILLUMINA ss3744604525 Jul 12, 2019 (153)
88 EVA ss3745755801 Jul 12, 2019 (153)
89 ILLUMINA ss3772106180 Jul 12, 2019 (153)
90 KHV_HUMAN_GENOMES ss3798777432 Jul 12, 2019 (153)
91 EVA ss3823551049 Apr 25, 2020 (154)
92 EVA ss3825517489 Apr 25, 2020 (154)
93 EVA ss3825534729 Apr 25, 2020 (154)
94 EVA ss3825551325 Apr 25, 2020 (154)
95 EVA ss3825994173 Apr 25, 2020 (154)
96 EVA ss3836384282 Apr 25, 2020 (154)
97 EVA ss3841788459 Apr 25, 2020 (154)
98 SGDP_PRJ ss3848070147 Apr 25, 2020 (154)
99 KRGDB ss3892931826 Apr 25, 2020 (154)
100 FSA-LAB ss3983913205 Apr 25, 2021 (155)
101 FSA-LAB ss3983913206 Apr 25, 2021 (155)
102 EVA ss3984774965 Apr 25, 2021 (155)
103 EVA ss3986095450 Apr 25, 2021 (155)
104 TOPMED ss4437313671 Apr 25, 2021 (155)
105 TOMMO_GENOMICS ss5142202953 Apr 25, 2021 (155)
106 EVA ss5236863396 Apr 25, 2021 (155)
107 1000Genomes NC_000001.10 - 3761479 Oct 11, 2018 (152)
108 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 3761479 Oct 11, 2018 (152)
109 Genetic variation in the Estonian population NC_000001.10 - 3761479 Oct 11, 2018 (152)
110 ExAC

Submission ignored due to conflicting rows:
Row 4439966 (NC_000001.10:3761478:C:C 74844/121336, NC_000001.10:3761478:C:T 46492/121336)
Row 4439967 (NC_000001.10:3761478:C:C 121335/121336, NC_000001.10:3761478:C:G 1/121336)

- Oct 11, 2018 (152)
111 ExAC

Submission ignored due to conflicting rows:
Row 4439966 (NC_000001.10:3761478:C:C 74844/121336, NC_000001.10:3761478:C:T 46492/121336)
Row 4439967 (NC_000001.10:3761478:C:C 121335/121336, NC_000001.10:3761478:C:G 1/121336)

- Oct 11, 2018 (152)
112 FINRISK NC_000001.10 - 3761479 Apr 25, 2020 (154)
113 The Danish reference pan genome NC_000001.10 - 3761479 Apr 25, 2020 (154)
114 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 870479 (NC_000001.11:3844914:C:G 2/139922)
Row 870480 (NC_000001.11:3844914:C:T 51646/139836)

- Apr 25, 2021 (155)
115 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 870479 (NC_000001.11:3844914:C:G 2/139922)
Row 870480 (NC_000001.11:3844914:C:T 51646/139836)

- Apr 25, 2021 (155)
116 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 74460 (NC_000001.10:3761478:C:C 251333/251334, NC_000001.10:3761478:C:G 1/251334)
Row 74461 (NC_000001.10:3761478:C:C 154462/251334, NC_000001.10:3761478:C:T 96872/251334)

- Jul 12, 2019 (153)
117 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 74460 (NC_000001.10:3761478:C:C 251333/251334, NC_000001.10:3761478:C:G 1/251334)
Row 74461 (NC_000001.10:3761478:C:C 154462/251334, NC_000001.10:3761478:C:T 96872/251334)

- Jul 12, 2019 (153)
118 GO Exome Sequencing Project NC_000001.10 - 3761479 Oct 11, 2018 (152)
119 Genome of the Netherlands Release 5 NC_000001.10 - 3761479 Apr 25, 2020 (154)
120 HapMap NC_000001.11 - 3844915 Apr 25, 2020 (154)
121 KOREAN population from KRGDB NC_000001.10 - 3761479 Apr 25, 2020 (154)
122 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 3761479 Apr 25, 2020 (154)
123 Northern Sweden NC_000001.10 - 3761479 Jul 12, 2019 (153)
124 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 3761479 Apr 25, 2021 (155)
125 Qatari NC_000001.10 - 3761479 Apr 25, 2020 (154)
126 SGDP_PRJ NC_000001.10 - 3761479 Apr 25, 2020 (154)
127 Siberian NC_000001.10 - 3761479 Apr 25, 2020 (154)
128 8.3KJPN NC_000001.10 - 3761479 Apr 25, 2021 (155)
129 TopMed NC_000001.11 - 3844915 Apr 25, 2021 (155)
130 UK 10K study - Twins NC_000001.10 - 3761479 Oct 11, 2018 (152)
131 A Vietnamese Genetic Variation Database NC_000001.10 - 3761479 Jul 12, 2019 (153)
132 ALFA NC_000001.11 - 3844915 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)
rs60180707 May 25, 2008 (130)
rs118131865 Aug 16, 2010 (132)
rs386563282 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss1685263520, ss2731059407 NC_000001.10:3761478:C:G NC_000001.11:3844914:C:G (self)
4235380857, ss3067132820 NC_000001.11:3844914:C:G NC_000001.11:3844914:C:G (self)
ss81705876 NC_000001.8:3784635:C:T NC_000001.11:3844914:C:T (self)
ss87174756, ss107949301, ss109968289, ss118453805, ss163005444, ss166009245, ss275691590, ss283991090, ss290498423, ss480499497, ss491582976, ss1584155561, ss1712306801, ss3642747999 NC_000001.9:3751338:C:T NC_000001.11:3844914:C:T (self)
120924, 54275, 41263, 544, 1367550, 9781, 23431, 109220, 2485, 25218, 892, 34268, 87127, 19083, 172260, 54275, 11517, ss218203462, ss230404312, ss238123165, ss341927861, ss480513869, ss481319481, ss485047256, ss489716833, ss537067097, ss553734893, ss647536725, ss778489134, ss782969846, ss783931474, ss832226157, ss833945111, ss974432814, ss974796828, ss1067415257, ss1067627574, ss1289452861, ss1425693184, ss1573860316, ss1584004083, ss1599427984, ss1642422017, ss1685263519, ss1710885733, ss1751917995, ss1917992338, ss1966671481, ss2019512382, ss2147502729, ss2321731730, ss2624271960, ss2632468730, ss2697396801, ss2731059407, ss2746195997, ss2750975247, ss2986201823, ss3023056128, ss3343289163, ss3626012028, ss3630508031, ss3633572206, ss3634303529, ss3635266384, ss3635979805, ss3637016736, ss3637733786, ss3640010894, ss3646220242, ss3654303015, ss3726740353, ss3744604525, ss3745755801, ss3772106180, ss3823551049, ss3825517489, ss3825534729, ss3825551325, ss3825994173, ss3836384282, ss3848070147, ss3892931826, ss3983913205, ss3983913206, ss3984774965, ss3986095450, ss5142202953 NC_000001.10:3761478:C:T NC_000001.11:3844914:C:T (self)
2891, 572901, 920006, 4235380857, ss2159576867, ss3023519827, ss3067132821, ss3686047824, ss3798777432, ss3841788459, ss4437313671, ss5236863396 NC_000001.11:3844914:C:T NC_000001.11:3844914:C:T (self)
ss3212049, ss6396333, ss75103714, ss86239327, ss119426243, ss137763810, ss154559895, ss159695857, ss160526286, ss173237935 NT_004350.19:3240110:C:T NC_000001.11:3844914:C:T (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 rs2275822

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