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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs59295886

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:231838676 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.137916 (36505/264690, TOPMED)
C=0.144478 (20259/140222, GnomAD)
C=0.11602 (9131/78702, PAGE_STUDY) (+ 16 more)
C=0.14702 (5589/38014, ALFA)
C=0.00025 (7/28256, 14KJPN)
C=0.00024 (4/16760, 8.3KJPN)
C=0.1048 (671/6404, 1000G_30x)
C=0.1012 (507/5008, 1000G)
C=0.1846 (827/4480, Estonian)
C=0.1489 (574/3854, ALSPAC)
C=0.1459 (541/3708, TWINSUK)
C=0.0007 (2/2922, KOREAN)
C=0.159 (159/998, GoNL)
C=0.145 (87/600, NorthernSweden)
C=0.079 (17/216, Qatari)
C=0.009 (2/216, Vietnamese)
T=0.48 (39/82, SGDP_PRJ)
C=0.12 (5/40, GENOME_DK)
T=0.44 (8/18, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
DISC1 : Intron Variant
TSNAX-DISC1 : Intron Variant
LOC105373170 : Intron Variant
Publications
0 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 38108 T=0.85310 C=0.14690
European Sub 31106 T=0.85086 C=0.14914
African Sub 3606 T=0.8200 C=0.1800
African Others Sub 124 T=0.855 C=0.145
African American Sub 3482 T=0.8188 C=0.1812
Asian Sub 164 T=0.982 C=0.018
East Asian Sub 136 T=0.978 C=0.022
Other Asian Sub 28 T=1.00 C=0.00
Latin American 1 Sub 168 T=0.851 C=0.149
Latin American 2 Sub 700 T=0.944 C=0.056
South Asian Sub 122 T=0.902 C=0.098
Other Sub 2242 T=0.8970 C=0.1030


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=0.862084 C=0.137916
gnomAD - Genomes Global Study-wide 140222 T=0.855522 C=0.144478
gnomAD - Genomes European Sub 75926 T=0.85108 C=0.14892
gnomAD - Genomes African Sub 42026 T=0.82375 C=0.17625
gnomAD - Genomes American Sub 13662 T=0.92519 C=0.07481
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.9281 C=0.0719
gnomAD - Genomes East Asian Sub 3134 T=0.9955 C=0.0045
gnomAD - Genomes Other Sub 2152 T=0.8745 C=0.1255
The PAGE Study Global Study-wide 78702 T=0.88398 C=0.11602
The PAGE Study AfricanAmerican Sub 32516 T=0.82424 C=0.17576
The PAGE Study Mexican Sub 10810 T=0.94292 C=0.05708
The PAGE Study Asian Sub 8318 T=0.9959 C=0.0041
The PAGE Study PuertoRican Sub 7918 T=0.8717 C=0.1283
The PAGE Study NativeHawaiian Sub 4534 T=0.9625 C=0.0375
The PAGE Study Cuban Sub 4230 T=0.8780 C=0.1220
The PAGE Study Dominican Sub 3828 T=0.8644 C=0.1356
The PAGE Study CentralAmerican Sub 2450 T=0.9220 C=0.0780
The PAGE Study SouthAmerican Sub 1982 T=0.9299 C=0.0701
The PAGE Study NativeAmerican Sub 1260 T=0.8865 C=0.1135
The PAGE Study SouthAsian Sub 856 T=0.917 C=0.083
Allele Frequency Aggregator Total Global 38014 T=0.85298 C=0.14702
Allele Frequency Aggregator European Sub 31030 T=0.85073 C=0.14927
Allele Frequency Aggregator African Sub 3606 T=0.8200 C=0.1800
Allele Frequency Aggregator Other Sub 2224 T=0.8970 C=0.1030
Allele Frequency Aggregator Latin American 2 Sub 700 T=0.944 C=0.056
Allele Frequency Aggregator Latin American 1 Sub 168 T=0.851 C=0.149
Allele Frequency Aggregator Asian Sub 164 T=0.982 C=0.018
Allele Frequency Aggregator South Asian Sub 122 T=0.902 C=0.098
14KJPN JAPANESE Study-wide 28256 T=0.99975 C=0.00025
8.3KJPN JAPANESE Study-wide 16760 T=0.99976 C=0.00024
1000Genomes_30x Global Study-wide 6404 T=0.8952 C=0.1048
1000Genomes_30x African Sub 1786 T=0.8152 C=0.1848
1000Genomes_30x Europe Sub 1266 T=0.8657 C=0.1343
1000Genomes_30x South Asian Sub 1202 T=0.9151 C=0.0849
1000Genomes_30x East Asian Sub 1170 T=0.9974 C=0.0026
1000Genomes_30x American Sub 980 T=0.933 C=0.067
1000Genomes Global Study-wide 5008 T=0.8988 C=0.1012
1000Genomes African Sub 1322 T=0.8192 C=0.1808
1000Genomes East Asian Sub 1008 T=0.9970 C=0.0030
1000Genomes Europe Sub 1006 T=0.8688 C=0.1312
1000Genomes South Asian Sub 978 T=0.913 C=0.087
1000Genomes American Sub 694 T=0.931 C=0.069
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.8154 C=0.1846
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.8511 C=0.1489
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.8541 C=0.1459
KOREAN population from KRGDB KOREAN Study-wide 2922 T=0.9993 C=0.0007
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.841 C=0.159
Northern Sweden ACPOP Study-wide 600 T=0.855 C=0.145
Qatari Global Study-wide 216 T=0.921 C=0.079
A Vietnamese Genetic Variation Database Global Study-wide 216 T=0.991 C=0.009
SGDP_PRJ Global Study-wide 82 T=0.48 C=0.52
The Danish reference pan genome Danish Study-wide 40 T=0.88 C=0.12
Siberian Global Study-wide 18 T=0.44 C=0.56
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.p14 chr 1 NC_000001.11:g.231838676T>C
GRCh37.p13 chr 1 NC_000001.10:g.231974422T>C
DISC1 RefSeqGene NG_011681.2:g.216862T>C
Gene: DISC1, DISC1 scaffold protein (plus strand)
Molecule type Change Amino acid[Codon] SO Term
DISC1 transcript variant Lv NM_001012957.2:c.1981+201…

NM_001012957.2:c.1981+20159T>C

 		N/A Intron Variant
DISC1 transcript variant S NM_001012959.2:c.1981+201…

NM_001012959.2:c.1981+20159T>C

 		N/A Intron Variant
DISC1 transcript variant a NM_001164537.2:c.2077+201…

NM_001164537.2:c.2077+20159T>C

 		N/A Intron Variant
DISC1 transcript variant b NM_001164538.2:c.1981+201…

NM_001164538.2:c.1981+20159T>C

 		N/A Intron Variant
DISC1 transcript variant c NM_001164539.2:c.1982-160…

NM_001164539.2:c.1982-16063T>C

 		N/A Intron Variant
DISC1 transcript variant d NM_001164540.2:c.1615+201…

NM_001164540.2:c.1615+20159T>C

 		N/A Intron Variant
DISC1 transcript variant e NM_001164541.2:c.1981+201…

NM_001164541.2:c.1981+20159T>C

 		N/A Intron Variant
DISC1 transcript variant f NM_001164542.2:c.1981+201…

NM_001164542.2:c.1981+20159T>C

 		N/A Intron Variant
DISC1 transcript variant i NM_001164546.2:c.1634+676…

NM_001164546.2:c.1634+67606T>C

 		N/A Intron Variant
DISC1 transcript variant j NM_001164547.2:c.1634+676…

NM_001164547.2:c.1634+67606T>C

 		N/A Intron Variant
DISC1 transcript variant L NM_018662.3:c.1981+20159T…

NM_018662.3:c.1981+20159T>C

 		N/A Intron Variant
DISC1 transcript variant Es NM_001012958.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant g NM_001164544.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant h NM_001164545.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant k NM_001164548.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant l NM_001164549.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant m NM_001164550.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant n NM_001164551.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant o NM_001164552.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant p NM_001164553.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant q NM_001164554.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant r NM_001164555.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant t NM_001164556.2:c. N/A Genic Downstream Transcript Variant
Gene: TSNAX-DISC1, TSNAX-DISC1 readthrough (NMD candidate) (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TSNAX-DISC1 transcript variant 1 NR_028393.1:n. N/A Intron Variant
TSNAX-DISC1 transcript variant 2 NR_028394.1:n. N/A Genic Downstream Transcript Variant
TSNAX-DISC1 transcript variant 3 NR_028395.1:n. N/A Genic Downstream Transcript Variant
TSNAX-DISC1 transcript variant 4 NR_028396.1:n. N/A Genic Downstream Transcript Variant
TSNAX-DISC1 transcript variant 5 NR_028397.1:n. N/A Genic Downstream Transcript Variant
TSNAX-DISC1 transcript variant 6 NR_028398.1:n. N/A Genic Downstream Transcript Variant
TSNAX-DISC1 transcript variant 7 NR_028399.1:n. N/A Genic Downstream Transcript Variant
TSNAX-DISC1 transcript variant 8 NR_028400.1:n. N/A Genic Downstream Transcript Variant
Gene: LOC105373170, uncharacterized LOC105373170 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC105373170 transcript variant X1 XR_007066940.1:n. N/A Intron Variant
LOC105373170 transcript variant X2 XR_949268.4:n. N/A Intron Variant
LOC105373170 transcript variant X3 XR_949269.3:n. N/A Intron Variant
LOC105373170 transcript variant X4 XR_001738521.2:n. N/A Genic Upstream 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
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.p14 chr 1 NC_000001.11:g.231838676= NC_000001.11:g.231838676T>C
GRCh37.p13 chr 1 NC_000001.10:g.231974422= NC_000001.10:g.231974422T>C
DISC1 RefSeqGene NG_011681.2:g.216862= NG_011681.2:g.216862T>C
DISC1 transcript variant Lv NM_001012957.1:c.1981+20159= NM_001012957.1:c.1981+20159T>C
DISC1 transcript variant Lv NM_001012957.2:c.1981+20159= NM_001012957.2:c.1981+20159T>C
DISC1 transcript variant S NM_001012959.1:c.1981+20159= NM_001012959.1:c.1981+20159T>C
DISC1 transcript variant S NM_001012959.2:c.1981+20159= NM_001012959.2:c.1981+20159T>C
DISC1 transcript variant a NM_001164537.1:c.2077+20159= NM_001164537.1:c.2077+20159T>C
DISC1 transcript variant a NM_001164537.2:c.2077+20159= NM_001164537.2:c.2077+20159T>C
DISC1 transcript variant b NM_001164538.1:c.1981+20159= NM_001164538.1:c.1981+20159T>C
DISC1 transcript variant b NM_001164538.2:c.1981+20159= NM_001164538.2:c.1981+20159T>C
DISC1 transcript variant c NM_001164539.1:c.1982-16063= NM_001164539.1:c.1982-16063T>C
DISC1 transcript variant c NM_001164539.2:c.1982-16063= NM_001164539.2:c.1982-16063T>C
DISC1 transcript variant d NM_001164540.1:c.1615+20159= NM_001164540.1:c.1615+20159T>C
DISC1 transcript variant d NM_001164540.2:c.1615+20159= NM_001164540.2:c.1615+20159T>C
DISC1 transcript variant e NM_001164541.1:c.1981+20159= NM_001164541.1:c.1981+20159T>C
DISC1 transcript variant e NM_001164541.2:c.1981+20159= NM_001164541.2:c.1981+20159T>C
DISC1 transcript variant f NM_001164542.1:c.1981+20159= NM_001164542.1:c.1981+20159T>C
DISC1 transcript variant f NM_001164542.2:c.1981+20159= NM_001164542.2:c.1981+20159T>C
DISC1 transcript variant i NM_001164546.1:c.1634+67606= NM_001164546.1:c.1634+67606T>C
DISC1 transcript variant i NM_001164546.2:c.1634+67606= NM_001164546.2:c.1634+67606T>C
DISC1 transcript variant j NM_001164547.1:c.1634+67606= NM_001164547.1:c.1634+67606T>C
DISC1 transcript variant j NM_001164547.2:c.1634+67606= NM_001164547.2:c.1634+67606T>C
DISC1 transcript variant L NM_018662.2:c.1981+20159= NM_018662.2:c.1981+20159T>C
DISC1 transcript variant L NM_018662.3:c.1981+20159= NM_018662.3:c.1981+20159T>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#.

75 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss85549099 Dec 15, 2007 (129)
2 HUMANGENOME_JCVI ss99295351 Feb 05, 2009 (130)
3 1000GENOMES ss109027512 Jan 23, 2009 (130)
4 1000GENOMES ss111926475 Jan 25, 2009 (130)
5 ILLUMINA-UK ss119244068 Feb 15, 2009 (130)
6 ENSEMBL ss139564871 Dec 01, 2009 (131)
7 COMPLETE_GENOMICS ss165387571 Jul 04, 2010 (132)
8 COMPLETE_GENOMICS ss167561573 Jul 04, 2010 (132)
9 BUSHMAN ss199740557 Jul 04, 2010 (132)
10 1000GENOMES ss218938045 Jul 14, 2010 (132)
11 1000GENOMES ss230944165 Jul 14, 2010 (132)
12 PJP ss290754874 May 09, 2011 (134)
13 ILLUMINA ss479946298 May 04, 2012 (137)
14 ILLUMINA ss482259151 May 04, 2012 (137)
15 ILLUMINA ss533415110 Sep 08, 2015 (146)
16 TISHKOFF ss555205545 Apr 25, 2013 (138)
17 SSMP ss648778433 Apr 25, 2013 (138)
18 ILLUMINA ss779681622 Sep 08, 2015 (146)
19 ILLUMINA ss781108218 Sep 08, 2015 (146)
20 ILLUMINA ss835155317 Sep 08, 2015 (146)
21 EVA-GONL ss976254906 Aug 21, 2014 (142)
22 JMKIDD_LAB ss1068684940 Aug 21, 2014 (142)
23 1000GENOMES ss1295067018 Aug 21, 2014 (142)
24 DDI ss1426143313 Apr 01, 2015 (144)
25 EVA_GENOME_DK ss1574748189 Apr 01, 2015 (144)
26 EVA_DECODE ss1585654619 Apr 01, 2015 (144)
27 EVA_UK10K_ALSPAC ss1602361793 Apr 01, 2015 (144)
28 EVA_UK10K_TWINSUK ss1645355826 Apr 01, 2015 (144)
29 HAMMER_LAB ss1795876292 Sep 08, 2015 (146)
30 WEILL_CORNELL_DGM ss1919476170 Feb 12, 2016 (147)
31 ILLUMINA ss1958366996 Feb 12, 2016 (147)
32 JJLAB ss2020263327 Sep 14, 2016 (149)
33 CSHL ss2136845529 Nov 08, 2017 (151)
34 USC_VALOUEV ss2148299428 Dec 20, 2016 (150)
35 HUMAN_LONGEVITY ss2170946307 Dec 20, 2016 (150)
36 ILLUMINA ss2632642774 Nov 08, 2017 (151)
37 GRF ss2698299794 Nov 08, 2017 (151)
38 GNOMAD ss2767399980 Nov 08, 2017 (151)
39 AFFY ss2984897611 Nov 08, 2017 (151)
40 AFFY ss2985541182 Nov 08, 2017 (151)
41 SWEGEN ss2988622052 Nov 08, 2017 (151)
42 ILLUMINA ss3021191045 Nov 08, 2017 (151)
43 BIOINF_KMB_FNS_UNIBA ss3023892557 Nov 08, 2017 (151)
44 CSHL ss3343960601 Nov 08, 2017 (151)
45 ILLUMINA ss3626332736 Oct 11, 2018 (152)
46 ILLUMINA ss3630671912 Oct 11, 2018 (152)
47 ILLUMINA ss3641645966 Oct 11, 2018 (152)
48 URBANLAB ss3646909330 Oct 11, 2018 (152)
49 ILLUMINA ss3651536726 Oct 11, 2018 (152)
50 ILLUMINA ss3653667771 Oct 11, 2018 (152)
51 EGCUT_WGS ss3656580936 Jul 12, 2019 (153)
52 EVA_DECODE ss3688834879 Jul 12, 2019 (153)
53 ILLUMINA ss3725115278 Jul 12, 2019 (153)
54 ACPOP ss3727953085 Jul 12, 2019 (153)
55 EVA ss3747467671 Jul 12, 2019 (153)
56 PAGE_CC ss3770879497 Jul 12, 2019 (153)
57 KHV_HUMAN_GENOMES ss3800469562 Jul 12, 2019 (153)
58 EVA ss3826698092 Apr 25, 2020 (154)
59 EVA ss3836750742 Apr 25, 2020 (154)
60 EVA ss3842163210 Apr 25, 2020 (154)
61 SGDP_PRJ ss3851114996 Apr 25, 2020 (154)
62 KRGDB ss3896463273 Apr 25, 2020 (154)
63 TOPMED ss4487232212 Apr 27, 2021 (155)
64 TOMMO_GENOMICS ss5148911543 Apr 27, 2021 (155)
65 1000G_HIGH_COVERAGE ss5246159836 Oct 13, 2022 (156)
66 EVA ss5314690608 Oct 13, 2022 (156)
67 EVA ss5325455669 Oct 13, 2022 (156)
68 HUGCELL_USP ss5446559524 Oct 13, 2022 (156)
69 1000G_HIGH_COVERAGE ss5520440069 Oct 13, 2022 (156)
70 SANFORD_IMAGENETICS ss5627653438 Oct 13, 2022 (156)
71 TOMMO_GENOMICS ss5676811307 Oct 13, 2022 (156)
72 EVA ss5833409563 Oct 13, 2022 (156)
73 EVA ss5849331889 Oct 13, 2022 (156)
74 EVA ss5912393439 Oct 13, 2022 (156)
75 EVA ss5939501745 Oct 13, 2022 (156)
76 1000Genomes NC_000001.10 - 231974422 Oct 11, 2018 (152)
77 1000Genomes_30x NC_000001.11 - 231838676 Oct 13, 2022 (156)
78 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 231974422 Oct 11, 2018 (152)
79 Genetic variation in the Estonian population NC_000001.10 - 231974422 Oct 11, 2018 (152)
80 The Danish reference pan genome NC_000001.10 - 231974422 Apr 25, 2020 (154)
81 gnomAD - Genomes NC_000001.11 - 231838676 Apr 27, 2021 (155)
82 Genome of the Netherlands Release 5 NC_000001.10 - 231974422 Apr 25, 2020 (154)
83 KOREAN population from KRGDB NC_000001.10 - 231974422 Apr 25, 2020 (154)
84 Northern Sweden NC_000001.10 - 231974422 Jul 12, 2019 (153)
85 The PAGE Study NC_000001.11 - 231838676 Jul 12, 2019 (153)
86 Qatari NC_000001.10 - 231974422 Apr 25, 2020 (154)
87 SGDP_PRJ NC_000001.10 - 231974422 Apr 25, 2020 (154)
88 Siberian NC_000001.10 - 231974422 Apr 25, 2020 (154)
89 8.3KJPN NC_000001.10 - 231974422 Apr 27, 2021 (155)
90 14KJPN NC_000001.11 - 231838676 Oct 13, 2022 (156)
91 TopMed NC_000001.11 - 231838676 Apr 27, 2021 (155)
92 UK 10K study - Twins NC_000001.10 - 231974422 Oct 11, 2018 (152)
93 A Vietnamese Genetic Variation Database NC_000001.10 - 231974422 Jul 12, 2019 (153)
94 ALFA NC_000001.11 - 231838676 Apr 27, 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss85549099 NC_000001.8:228281156:T:C NC_000001.11:231838675:T:C (self)
ss109027512, ss111926475, ss119244068, ss165387571, ss167561573, ss199740557, ss290754874, ss482259151, ss1585654619, ss2136845529 NC_000001.9:230041044:T:C NC_000001.11:231838675:T:C (self)
5936684, 3282882, 2319184, 1928574, 1435028, 3640667, 1237950, 1518100, 3131976, 815782, 6880850, 3282882, 714030, ss218938045, ss230944165, ss479946298, ss533415110, ss555205545, ss648778433, ss779681622, ss781108218, ss835155317, ss976254906, ss1068684940, ss1295067018, ss1426143313, ss1574748189, ss1602361793, ss1645355826, ss1795876292, ss1919476170, ss1958366996, ss2020263327, ss2148299428, ss2632642774, ss2698299794, ss2767399980, ss2984897611, ss2985541182, ss2988622052, ss3021191045, ss3343960601, ss3626332736, ss3630671912, ss3641645966, ss3651536726, ss3653667771, ss3656580936, ss3727953085, ss3747467671, ss3826698092, ss3836750742, ss3851114996, ss3896463273, ss5148911543, ss5314690608, ss5325455669, ss5627653438, ss5833409563, ss5939501745 NC_000001.10:231974421:T:C NC_000001.11:231838675:T:C (self)
7966004, 42587673, 100966, 10648411, 50838547, 11880829659, ss2170946307, ss3023892557, ss3646909330, ss3688834879, ss3725115278, ss3770879497, ss3800469562, ss3842163210, ss4487232212, ss5246159836, ss5446559524, ss5520440069, ss5676811307, ss5849331889, ss5912393439 NC_000001.11:231838675:T:C NC_000001.11:231838675:T:C (self)
ss99295351, ss139564871 NT_167186.1:25492200:T:C NC_000001.11:231838675: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.

No publications for rs59295886

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.post761+d5e8e07