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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.

rs11804171

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:788439 (GRCh38.p13) Help

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

Alleles
T>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.132631 (18502/139500, GnomAD)
A=0.09839 (1649/16760, 8.3KJPN)
A=0.10617 (1734/16332, ALFA) (+ 9 more)
A=0.1346 (674/5008, 1000G)
A=0.0253 (74/2930, KOREAN)
A=0.035 (35/998, GoNL)
A=0.030 (18/600, NorthernSweden)
A=0.201 (63/314, HapMap)
A=0.153 (33/216, Qatari)
T=0.414 (48/116, SGDP_PRJ)
T=0.5 (3/6, Siberian)
A=0.5 (3/6, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LINC01409 : 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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 16332 T=0.89383 A=0.10617
European Sub 12080 T=0.94462 A=0.05538
African Sub 2816 T=0.6697 A=0.3303
African Others Sub 108 T=0.593 A=0.407
African American Sub 2708 T=0.6728 A=0.3272
Asian Sub 108 T=0.954 A=0.046
East Asian Sub 84 T=0.94 A=0.06
Other Asian Sub 24 T=1.00 A=0.00
Latin American 1 Sub 146 T=0.836 A=0.164
Latin American 2 Sub 610 T=0.949 A=0.051
South Asian Sub 94 T=0.95 A=0.05
Other Sub 478 T=0.854 A=0.146


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
gnomAD - Genomes Global Study-wide 139500 T=0.867369 A=0.132631
gnomAD - Genomes European Sub 75614 T=0.95626 A=0.04374
gnomAD - Genomes African Sub 41730 T=0.67445 A=0.32555
gnomAD - Genomes American Sub 13596 T=0.93277 A=0.06723
gnomAD - Genomes Ashkenazi Jewish Sub 3308 T=0.9002 A=0.0998
gnomAD - Genomes East Asian Sub 3120 T=0.9651 A=0.0349
gnomAD - Genomes Other Sub 2132 T=0.8795 A=0.1205
8.3KJPN JAPANESE Study-wide 16760 T=0.90161 A=0.09839
1000Genomes Global Study-wide 5008 T=0.8654 A=0.1346
1000Genomes African Sub 1322 T=0.6180 A=0.3820
1000Genomes East Asian Sub 1008 T=0.9623 A=0.0377
1000Genomes Europe Sub 1006 T=0.9523 A=0.0477
1000Genomes South Asian Sub 978 T=0.956 A=0.044
1000Genomes American Sub 694 T=0.942 A=0.058
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.9747 A=0.0253
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.965 A=0.035
Northern Sweden ACPOP Study-wide 600 T=0.970 A=0.030
HapMap Global Study-wide 314 T=0.799 A=0.201
HapMap African Sub 118 T=0.610 A=0.390
HapMap American Sub 108 T=0.963 A=0.037
HapMap Asian Sub 88 T=0.85 A=0.15
Qatari Global Study-wide 216 T=0.847 A=0.153
SGDP_PRJ Global Study-wide 116 T=0.414 A=0.586
Siberian Global Study-wide 6 T=0.5 A=0.5
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.788439T>A
GRCh37.p13 chr 1 NC_000001.10:g.723819T>A
Gene: LINC01409, uncharacterized LINC01409 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LINC01409 transcript variant X1 XR_002958522.1:n. N/A Intron Variant
LINC01409 transcript variant X5 XR_002958525.1:n. N/A Intron Variant
LINC01409 transcript variant X4 XR_946806.3:n. N/A Intron Variant
LINC01409 transcript variant X2 XR_002958523.1:n. N/A Genic Upstream Transcript Variant
LINC01409 transcript variant X3 XR_002958524.1: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= A
GRCh38.p13 chr 1 NC_000001.11:g.788439= NC_000001.11:g.788439T>A
GRCh37.p13 chr 1 NC_000001.10:g.723819= NC_000001.10:g.723819T>A
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#.

27 SubSNP, 11 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss17344796 Feb 28, 2004 (120)
2 HGSV ss84601599 Dec 15, 2007 (130)
3 BUSHMAN ss197885306 Jul 04, 2010 (132)
4 1000GENOMES ss210449079 Jul 14, 2010 (132)
5 1000GENOMES ss218190346 Jul 14, 2010 (132)
6 1000GENOMES ss230395409 Jul 14, 2010 (132)
7 1000GENOMES ss238114943 Jul 15, 2010 (132)
8 SSMP ss647515879 Apr 25, 2013 (138)
9 EVA-GONL ss974769088 Aug 21, 2014 (142)
10 JMKIDD_LAB ss1067612315 Aug 21, 2014 (142)
11 1000GENOMES ss1289338091 Aug 21, 2014 (142)
12 HAMMER_LAB ss1793705489 Sep 08, 2015 (146)
13 WEILL_CORNELL_DGM ss1917959780 Feb 12, 2016 (147)
14 JJLAB ss2019498275 Sep 14, 2016 (149)
15 USC_VALOUEV ss2147483832 Dec 20, 2016 (150)
16 TOPMED ss2321501388 Dec 20, 2016 (150)
17 GRF ss2697374048 Nov 08, 2017 (151)
18 GNOMAD ss2750633519 Nov 08, 2017 (151)
19 SWEGEN ss2986147805 Nov 08, 2017 (151)
20 TOPMED ss3066389888 Nov 08, 2017 (151)
21 CSHL ss3343272202 Nov 08, 2017 (151)
22 ACPOP ss3726716017 Jul 12, 2019 (153)
23 EVA ss3745720727 Jul 12, 2019 (153)
24 KHV_HUMAN_GENOMES ss3798743139 Jul 12, 2019 (153)
25 SGDP_PRJ ss3847993910 Apr 25, 2020 (154)
26 KRGDB ss3892833347 Apr 25, 2020 (154)
27 TOMMO_GENOMICS ss5142049610 Apr 25, 2021 (155)
28 1000Genomes NC_000001.10 - 723819 Oct 11, 2018 (152)
29 gnomAD - Genomes NC_000001.11 - 788439 Apr 25, 2021 (155)
30 Genome of the Netherlands Release 5 NC_000001.10 - 723819 Apr 25, 2020 (154)
31 HapMap NC_000001.11 - 788439 Apr 25, 2020 (154)
32 KOREAN population from KRGDB NC_000001.10 - 723819 Apr 25, 2020 (154)
33 Northern Sweden NC_000001.10 - 723819 Jul 12, 2019 (153)
34 Qatari NC_000001.10 - 723819 Apr 25, 2020 (154)
35 SGDP_PRJ NC_000001.10 - 723819 Apr 25, 2020 (154)
36 Siberian NC_000001.10 - 723819 Apr 25, 2020 (154)
37 8.3KJPN NC_000001.10 - 723819 Apr 25, 2021 (155)
38 ALFA NC_000001.11 - 788439 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)
rs59714083 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss84601599 NC_000001.8:763681:T:A NC_000001.11:788438:T:A (self)
ss197885306, ss210449079 NC_000001.9:713681:T:A NC_000001.11:788438:T:A (self)
2767, 200, 10741, 882, 1710, 10890, 186, 18917, ss218190346, ss230395409, ss238114943, ss647515879, ss974769088, ss1067612315, ss1289338091, ss1793705489, ss1917959780, ss2019498275, ss2147483832, ss2321501388, ss2697374048, ss2750633519, ss2986147805, ss3343272202, ss3726716017, ss3745720727, ss3847993910, ss3892833347, ss5142049610 NC_000001.10:723818:T:A NC_000001.11:788438:T:A (self)
54871, 29, 5061612805, ss3066389888, ss3798743139 NC_000001.11:788438:T:A NC_000001.11:788438:T:A (self)
ss17344796 NT_034471.3:202450:T:A NC_000001.11:788438:T:A (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 rs11804171

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.post629+eb05767