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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.

rs34026863

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:73750296 (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
C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.496845 (131510/264690, TOPMED)
T=0.24333 (6876/28258, 14KJPN)
T=0.41804 (8039/19230, ALFA) (+ 16 more)
T=0.23926 (4010/16760, 8.3KJPN)
C=0.47303 (5945/12568, ExAC)
T=0.4830 (3093/6404, 1000G_30x)
T=0.4752 (2380/5008, 1000G)
T=0.4746 (2126/4480, Estonian)
T=0.4598 (1772/3854, ALSPAC)
T=0.4841 (1795/3708, TWINSUK)
T=0.2645 (775/2930, KOREAN)
T=0.2658 (487/1832, Korea1K)
T=0.453 (452/998, GoNL)
T=0.373 (224/600, NorthernSweden)
T=0.253 (135/534, MGP)
C=0.312 (111/356, SGDP_PRJ)
C=0.403 (87/216, Qatari)
C=0.43 (20/46, Siberian)
T=0.35 (14/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LINC00469 : Non Coding Transcript Variant
LOC100134391 : 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 19230 C=0.58196 G=0.00000, T=0.41804
European Sub 14722 C=0.58070 G=0.00000, T=0.41930
African Sub 1276 C=0.6560 G=0.0000, T=0.3440
African Others Sub 36 C=0.78 G=0.00, T=0.22
African American Sub 1240 C=0.6524 G=0.0000, T=0.3476
Asian Sub 106 C=0.821 G=0.000, T=0.179
East Asian Sub 68 C=0.82 G=0.00, T=0.18
Other Asian Sub 38 C=0.82 G=0.00, T=0.18
Latin American 1 Sub 42 C=0.90 G=0.00, T=0.10
Latin American 2 Sub 188 C=0.995 G=0.000, T=0.005
South Asian Sub 24 C=0.96 G=0.00, T=0.04
Other Sub 2872 C=0.5118 G=0.0000, T=0.4882


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=0.496845 T=0.503155
14KJPN JAPANESE Study-wide 28258 C=0.75667 T=0.24333
Allele Frequency Aggregator Total Global 19230 C=0.58196 G=0.00000, T=0.41804
Allele Frequency Aggregator European Sub 14722 C=0.58070 G=0.00000, T=0.41930
Allele Frequency Aggregator Other Sub 2872 C=0.5118 G=0.0000, T=0.4882
Allele Frequency Aggregator African Sub 1276 C=0.6560 G=0.0000, T=0.3440
Allele Frequency Aggregator Latin American 2 Sub 188 C=0.995 G=0.000, T=0.005
Allele Frequency Aggregator Asian Sub 106 C=0.821 G=0.000, T=0.179
Allele Frequency Aggregator Latin American 1 Sub 42 C=0.90 G=0.00, T=0.10
Allele Frequency Aggregator South Asian Sub 24 C=0.96 G=0.00, T=0.04
8.3KJPN JAPANESE Study-wide 16760 C=0.76074 T=0.23926
ExAC Global Study-wide 12568 C=0.47303 T=0.52697
ExAC Asian Sub 7796 C=0.4745 T=0.5255
ExAC Europe Sub 3944 C=0.4817 T=0.5183
ExAC African Sub 512 C=0.396 T=0.604
ExAC American Sub 176 C=0.432 T=0.568
ExAC Other Sub 140 C=0.479 T=0.521
1000Genomes_30x Global Study-wide 6404 C=0.5169 G=0.0002, T=0.4830
1000Genomes_30x African Sub 1786 C=0.3903 G=0.0006, T=0.6092
1000Genomes_30x Europe Sub 1266 C=0.5521 G=0.0000, T=0.4479
1000Genomes_30x South Asian Sub 1202 C=0.4992 G=0.0000, T=0.5008
1000Genomes_30x East Asian Sub 1170 C=0.7094 G=0.0000, T=0.2906
1000Genomes_30x American Sub 980 C=0.494 G=0.000, T=0.506
1000Genomes Global Study-wide 5008 C=0.5248 T=0.4752
1000Genomes African Sub 1322 C=0.3949 T=0.6051
1000Genomes East Asian Sub 1008 C=0.7123 T=0.2877
1000Genomes Europe Sub 1006 C=0.5517 T=0.4483
1000Genomes South Asian Sub 978 C=0.505 T=0.495
1000Genomes American Sub 694 C=0.488 T=0.512
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.5254 T=0.4746
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.5402 T=0.4598
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.5159 T=0.4841
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.7355 T=0.2645
Korean Genome Project KOREAN Study-wide 1832 C=0.7342 T=0.2658
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.547 T=0.453
Northern Sweden ACPOP Study-wide 600 C=0.627 T=0.373
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.747 T=0.253
SGDP_PRJ Global Study-wide 356 C=0.312 T=0.688
Qatari Global Study-wide 216 C=0.403 T=0.597
Siberian Global Study-wide 46 C=0.43 T=0.57
The Danish reference pan genome Danish Study-wide 40 C=0.65 T=0.35
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 17 NC_000017.11:g.73750296C>G
GRCh38.p14 chr 17 NC_000017.11:g.73750296C>T
GRCh37.p13 chr 17 NC_000017.10:g.71746435C>G
GRCh37.p13 chr 17 NC_000017.10:g.71746435C>T
Gene: LINC00469, long intergenic non-protein coding RNA 469 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LINC00469 transcript NR_027146.1:n.523G>C N/A Non Coding Transcript Variant
LINC00469 transcript NR_027146.1:n.523G>A N/A Non Coding Transcript Variant
Gene: LOC100134391, uncharacterized LOC100134391 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC100134391 transcript NR_164140.1:n. 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
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.p14 chr 17 NC_000017.11:g.73750296= NC_000017.11:g.73750296C>G NC_000017.11:g.73750296C>T
GRCh37.p13 chr 17 NC_000017.10:g.71746435= NC_000017.10:g.71746435C>G NC_000017.10:g.71746435C>T
C17orf54 transcript NM_182564.1:c.*128= NM_182564.1:c.*128G>C NM_182564.1:c.*128G>A
LINC00469 transcript NR_027146.1:n.523= NR_027146.1:n.523G>C NR_027146.1:n.523G>A
LOC100134391 transcript NM_001278587.1:c.71-289= NM_001278587.1:c.71-289C>G NM_001278587.1:c.71-289C>T
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#.

85 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss40806939 Mar 13, 2006 (126)
2 HGSV ss77382895 Dec 06, 2007 (129)
3 HGSV ss82551712 Dec 15, 2007 (130)
4 HGSV ss85271037 Dec 15, 2007 (130)
5 HUMANGENOME_JCVI ss96610456 Feb 06, 2009 (130)
6 1000GENOMES ss109913200 Jan 24, 2009 (130)
7 ILLUMINA-UK ss118124301 Feb 14, 2009 (130)
8 ENSEMBL ss132638194 Dec 01, 2009 (131)
9 GMI ss154627177 Dec 01, 2009 (131)
10 COMPLETE_GENOMICS ss170189179 Jul 04, 2010 (132)
11 COMPLETE_GENOMICS ss171716390 Jul 04, 2010 (132)
12 BCM-HGSC-SUB ss207963126 Jul 04, 2010 (132)
13 1000GENOMES ss211827602 Jul 14, 2010 (132)
14 1000GENOMES ss227651806 Jul 14, 2010 (132)
15 1000GENOMES ss237318442 Jul 15, 2010 (132)
16 1000GENOMES ss243597948 Jul 15, 2010 (132)
17 BL ss255785599 May 09, 2011 (134)
18 GMI ss282838844 May 04, 2012 (137)
19 GMI ss287214366 Apr 25, 2013 (138)
20 ILLUMINA ss535086683 Sep 08, 2015 (146)
21 TISHKOFF ss565399653 Apr 25, 2013 (138)
22 SSMP ss661212302 Apr 25, 2013 (138)
23 EVA-GONL ss993323025 Aug 21, 2014 (142)
24 JMKIDD_LAB ss1081208263 Aug 21, 2014 (142)
25 1000GENOMES ss1359499256 Aug 21, 2014 (142)
26 DDI ss1428094072 Apr 01, 2015 (144)
27 EVA_GENOME_DK ss1578240233 Apr 01, 2015 (144)
28 EVA_UK10K_ALSPAC ss1636084393 Apr 01, 2015 (144)
29 EVA_UK10K_TWINSUK ss1679078426 Apr 01, 2015 (144)
30 EVA_EXAC ss1692946063 Apr 01, 2015 (144)
31 EVA_DECODE ss1697373401 Apr 01, 2015 (144)
32 EVA_MGP ss1711471536 Apr 01, 2015 (144)
33 HAMMER_LAB ss1808876668 Sep 08, 2015 (146)
34 WEILL_CORNELL_DGM ss1936785012 Feb 12, 2016 (147)
35 GENOMED ss1968433503 Jul 19, 2016 (147)
36 JJLAB ss2029165311 Sep 14, 2016 (149)
37 USC_VALOUEV ss2157649783 Dec 20, 2016 (150)
38 HUMAN_LONGEVITY ss2218534823 Dec 20, 2016 (150)
39 GRF ss2702216016 Nov 08, 2017 (151)
40 GNOMAD ss2742977659 Nov 08, 2017 (151)
41 GNOMAD ss2749853385 Nov 08, 2017 (151)
42 GNOMAD ss2952343185 Nov 08, 2017 (151)
43 SWEGEN ss3015884412 Nov 08, 2017 (151)
44 BIOINF_KMB_FNS_UNIBA ss3028405446 Nov 08, 2017 (151)
45 CSHL ss3351835653 Nov 08, 2017 (151)
46 ILLUMINA ss3627719034 Oct 12, 2018 (152)
47 OMUKHERJEE_ADBS ss3646515882 Oct 12, 2018 (152)
48 URBANLAB ss3650699670 Oct 12, 2018 (152)
49 EGCUT_WGS ss3682749745 Jul 13, 2019 (153)
50 EVA_DECODE ss3700891739 Jul 13, 2019 (153)
51 ACPOP ss3742206458 Jul 13, 2019 (153)
52 EVA ss3754919538 Jul 13, 2019 (153)
53 PACBIO ss3788264905 Jul 13, 2019 (153)
54 PACBIO ss3793210934 Jul 13, 2019 (153)
55 PACBIO ss3798096941 Jul 13, 2019 (153)
56 KHV_HUMAN_GENOMES ss3820185109 Jul 13, 2019 (153)
57 EVA ss3825906028 Apr 27, 2020 (154)
58 EVA ss3834972199 Apr 27, 2020 (154)
59 EVA ss3841098470 Apr 27, 2020 (154)
60 EVA ss3846596667 Apr 27, 2020 (154)
61 SGDP_PRJ ss3886192734 Apr 27, 2020 (154)
62 KRGDB ss3935962930 Apr 27, 2020 (154)
63 KOGIC ss3979265056 Apr 27, 2020 (154)
64 FSA-LAB ss3984122537 Apr 26, 2021 (155)
65 EVA ss3986739892 Apr 26, 2021 (155)
66 TOPMED ss5043476502 Apr 26, 2021 (155)
67 TOMMO_GENOMICS ss5223426609 Apr 26, 2021 (155)
68 EVA ss5236946062 Apr 26, 2021 (155)
69 EVA ss5237240586 Apr 26, 2021 (155)
70 1000G_HIGH_COVERAGE ss5303894627 Oct 16, 2022 (156)
71 EVA ss5428956683 Oct 16, 2022 (156)
72 HUGCELL_USP ss5496863156 Oct 16, 2022 (156)
73 EVA ss5511825838 Oct 16, 2022 (156)
74 1000G_HIGH_COVERAGE ss5607978228 Oct 16, 2022 (156)
75 EVA ss5624075504 Oct 16, 2022 (156)
76 SANFORD_IMAGENETICS ss5660520550 Oct 16, 2022 (156)
77 TOMMO_GENOMICS ss5779953824 Oct 16, 2022 (156)
78 EVA ss5800211233 Oct 16, 2022 (156)
79 YY_MCH ss5816718638 Oct 16, 2022 (156)
80 EVA ss5834271526 Oct 16, 2022 (156)
81 EVA ss5848457165 Oct 16, 2022 (156)
82 EVA ss5851891791 Oct 16, 2022 (156)
83 EVA ss5914782771 Oct 16, 2022 (156)
84 EVA ss5951922885 Oct 16, 2022 (156)
85 EVA ss5980982008 Oct 16, 2022 (156)
86 1000Genomes NC_000017.10 - 71746435 Oct 12, 2018 (152)
87 1000Genomes_30x NC_000017.11 - 73750296 Oct 16, 2022 (156)
88 The Avon Longitudinal Study of Parents and Children NC_000017.10 - 71746435 Oct 12, 2018 (152)
89 Genetic variation in the Estonian population NC_000017.10 - 71746435 Oct 12, 2018 (152)
90 ExAC NC_000017.10 - 71746435 Oct 12, 2018 (152)
91 The Danish reference pan genome NC_000017.10 - 71746435 Apr 27, 2020 (154)
92 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 513566142 (NC_000017.11:73750295:C:G 6/139538)
Row 513566143 (NC_000017.11:73750295:C:T 69934/139442)

- Apr 26, 2021 (155)
93 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 513566142 (NC_000017.11:73750295:C:G 6/139538)
Row 513566143 (NC_000017.11:73750295:C:T 69934/139442)

- Apr 26, 2021 (155)
94 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 12285376 (NC_000017.10:71746434:C:C 137363/137366, NC_000017.10:71746434:C:G 3/137366)
Row 12285377 (NC_000017.10:71746434:C:C 72395/137366, NC_000017.10:71746434:C:T 64971/137366)

- Jul 13, 2019 (153)
95 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 12285376 (NC_000017.10:71746434:C:C 137363/137366, NC_000017.10:71746434:C:G 3/137366)
Row 12285377 (NC_000017.10:71746434:C:C 72395/137366, NC_000017.10:71746434:C:T 64971/137366)

- Jul 13, 2019 (153)
96 Genome of the Netherlands Release 5 NC_000017.10 - 71746435 Apr 27, 2020 (154)
97 KOREAN population from KRGDB NC_000017.10 - 71746435 Apr 27, 2020 (154)
98 Korean Genome Project NC_000017.11 - 73750296 Apr 27, 2020 (154)
99 Medical Genome Project healthy controls from Spanish population NC_000017.10 - 71746435 Apr 27, 2020 (154)
100 Northern Sweden NC_000017.10 - 71746435 Jul 13, 2019 (153)
101 Qatari NC_000017.10 - 71746435 Apr 27, 2020 (154)
102 SGDP_PRJ NC_000017.10 - 71746435 Apr 27, 2020 (154)
103 Siberian NC_000017.10 - 71746435 Apr 27, 2020 (154)
104 8.3KJPN NC_000017.10 - 71746435 Apr 26, 2021 (155)
105 14KJPN NC_000017.11 - 73750296 Oct 16, 2022 (156)
106 TopMed NC_000017.11 - 73750296 Apr 26, 2021 (155)
107 UK 10K study - Twins NC_000017.10 - 71746435 Oct 12, 2018 (152)
108 ALFA NC_000017.11 - 73750296 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)
rs60165499 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2742977659 NC_000017.10:71746434:C:G NC_000017.11:73750295:C:G (self)
95504163, 5292841147, ss5607978228 NC_000017.11:73750295:C:G NC_000017.11:73750295:C:G (self)
ss77382895, ss82551712, ss85271037, ss109913200, ss118124301, ss170189179, ss171716390, ss207963126, ss211827602, ss255785599, ss282838844, ss287214366, ss1697373401 NC_000017.9:69258029:C:T NC_000017.11:73750295:C:T (self)
72773801, 40327893, 28487993, 3402447, 4439068, 17966566, 43140324, 587296, 15491323, 18826934, 38209714, 10166137, 81395916, 40327893, ss227651806, ss237318442, ss243597948, ss535086683, ss565399653, ss661212302, ss993323025, ss1081208263, ss1359499256, ss1428094072, ss1578240233, ss1636084393, ss1679078426, ss1692946063, ss1711471536, ss1808876668, ss1936785012, ss1968433503, ss2029165311, ss2157649783, ss2702216016, ss2742977659, ss2749853385, ss2952343185, ss3015884412, ss3351835653, ss3627719034, ss3646515882, ss3682749745, ss3742206458, ss3754919538, ss3788264905, ss3793210934, ss3798096941, ss3825906028, ss3834972199, ss3841098470, ss3886192734, ss3935962930, ss3984122537, ss3986739892, ss5223426609, ss5428956683, ss5511825838, ss5624075504, ss5660520550, ss5800211233, ss5834271526, ss5848457165, ss5951922885, ss5980982008 NC_000017.10:71746434:C:T NC_000017.11:73750295:C:T (self)
95504163, 35643057, 113790928, 259022164, 5292841147, ss2218534823, ss3028405446, ss3650699670, ss3700891739, ss3820185109, ss3846596667, ss3979265056, ss5043476502, ss5236946062, ss5237240586, ss5303894627, ss5496863156, ss5607978228, ss5779953824, ss5816718638, ss5851891791, ss5914782771 NC_000017.11:73750295:C:T NC_000017.11:73750295:C:T (self)
ss40806939, ss96610456, ss132638194, ss154627177 NT_010783.15:37020586:C:T NC_000017.11:73750295: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 rs34026863

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