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dbSNP Short Genetic Variations

Reference SNP (rs) Report

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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.

rs17111394

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chr14:81056784 (GRCh38.p7) 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=0.13770 (17291/125568, TOPMED)
C=0.1306 (4037/30918, GnomAD)
C=0.099 (496/5008, 1000G)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TSHR : Intron Variant
LOC101928462 : Intron 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.p7 chr 14 NC_000014.9:g.81056784T>C
GRCh37.p13 chr 14 NC_000014.8:g.81523128T>C
TSHR RefSeqGene (LRG_523) NG_009206.1:g.106260T>C
Gene: TSHR, thyroid stimulating hormone receptor (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TSHR transcript variant 1 NM_000369.2:c. N/A Intron Variant
TSHR transcript variant 2 NM_001018036.2:c. N/A Intron Variant
TSHR transcript variant 3 NM_001142626.2:c. N/A Intron Variant
TSHR transcript variant X1 XM_005268037.4:c. N/A Intron Variant
TSHR transcript variant X4 XM_005268039.1:c. N/A Intron Variant
TSHR transcript variant X3 XM_006720245.1:c. N/A Intron Variant
TSHR transcript variant X2 XM_011537119.2:c. N/A Intron Variant
Gene: LOC101928462, uncharacterized LOC101928462 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC101928462 transcript variant X1 XR_001751018.1:n. N/A Intron Variant
LOC101928462 transcript variant X2 XR_001751019.1:n. N/A Intron Variant
LOC101928462 transcript variant X3 XR_001751020.1:n. N/A Intron Variant
LOC101928462 transcript variant X4 XR_001751021.1:n. N/A Intron Variant
LOC101928462 transcript variant X5 XR_001751022.1:n. N/A Intron Variant
LOC101928462 transcript variant X7 XR_001751023.1:n. N/A Intron Variant
LOC101928462 transcript variant X8 XR_001751024.1:n. N/A Intron Variant
LOC101928462 transcript variant X6 XR_944075.2: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

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
Trans-Omics for Precision Medicine Global Study-wide 125568 T=0.86230 C=0.13770
The Genome Aggregation Database Global Study-wide 30918 T=0.8694 C=0.1306
The Genome Aggregation Database European Sub 18470 T=0.8317 C=0.1683
The Genome Aggregation Database African Sub 8728 T=0.951 C=0.049
The Genome Aggregation Database East Asian Sub 1598 T=0.844 C=0.156
The Genome Aggregation Database Other Sub 982 T=0.88 C=0.12
The Genome Aggregation Database American Sub 838 T=0.90 C=0.10
The Genome Aggregation Database Ashkenazi Jewish Sub 302 T=0.86 C=0.14
1000Genomes Global Study-wide 5008 T=0.901 C=0.099
1000Genomes African Sub 1322 T=0.963 C=0.037
1000Genomes East Asian Sub 1008 T=0.868 C=0.132
1000Genomes Europe Sub 1006 T=0.841 C=0.159
1000Genomes South Asian Sub 978 T=0.90 C=0.10
1000Genomes American Sub 694 T=0.91 C=0.09
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 Note
GRCh38.p7 chr 14 NC_000014.9:g.81056784T= NC_000014.9:g.81056784T>C
GRCh37.p13 chr 14 NC_000014.8:g.81523128T= NC_000014.8:g.81523128T>C
TSHR RefSeqGene (LRG_523) NG_009206.1:g.106260T= NG_009206.1:g.106260T>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#.

3 Frequency, 66 SubSNP submissions
No Submitter Submission ID Date (Build)
1 PERLEGEN ss24104316 Sep 20, 2004 (123)
2 ILLUMINA ss67177155 Nov 29, 2006 (127)
3 ILLUMINA ss67537799 Nov 29, 2006 (127)
4 ILLUMINA ss68174320 Dec 12, 2006 (127)
5 ILLUMINA ss70655173 May 27, 2008 (130)
6 ILLUMINA ss71214594 May 16, 2007 (127)
7 ILLUMINA ss74935694 Dec 07, 2007 (129)
8 KRIBB_YJKIM ss85364658 Dec 16, 2007 (130)
9 BCMHGSC_JDW ss90010634 Mar 24, 2008 (129)
10 1000GENOMES ss108496192 Jan 23, 2009 (130)
11 ENSEMBL ss134074675 Dec 01, 2009 (131)
12 ILLUMINA ss153628771 Dec 01, 2009 (131)
13 ILLUMINA ss159308795 Dec 01, 2009 (131)
14 COMPLETE_GENOMICS ss168388660 Jul 04, 2010 (132)
15 COMPLETE_GENOMICS ss171380897 Jul 04, 2010 (132)
16 ILLUMINA ss172750253 Jul 04, 2010 (132)
17 1000GENOMES ss226675833 Jul 14, 2010 (132)
18 1000GENOMES ss236621273 Jul 15, 2010 (132)
19 1000GENOMES ss243039752 Jul 15, 2010 (132)
20 BL ss255141454 May 09, 2011 (134)
21 GMI ss282081786 May 04, 2012 (137)
22 GMI ss286877724 Apr 25, 2013 (138)
23 EXOME_CHIP ss491488020 May 04, 2012 (137)
24 ILLUMINA ss536948257 Sep 08, 2015 (146)
25 TISHKOFF ss564218298 Apr 25, 2013 (138)
26 SSMP ss659910662 Apr 25, 2013 (138)
27 ILLUMINA ss780682352 Aug 21, 2014 (142)
28 ILLUMINA ss783355699 Aug 21, 2014 (142)
29 ILLUMINA ss832820858 Aug 21, 2014 (142)
30 ILLUMINA ss833411688 Aug 21, 2014 (142)
31 EVA-GONL ss991363520 Aug 21, 2014 (142)
32 JMKIDD_LAB ss1079815884 Aug 21, 2014 (142)
33 1000GENOMES ss1351821228 Aug 21, 2014 (142)
34 EVA_GENOME_DK ss1577380195 Apr 01, 2015 (144)
35 EVA_DECODE ss1695370967 Apr 01, 2015 (144)
36 EVA_SVP ss1713460494 Apr 01, 2015 (144)
37 ILLUMINA ss1752144487 Sep 08, 2015 (146)
38 ILLUMINA ss1917891242 Feb 12, 2016 (147)
39 WEILL_CORNELL_DGM ss1934734198 Feb 12, 2016 (147)
40 ILLUMINA ss1946382540 Feb 12, 2016 (147)
41 ILLUMINA ss1959570878 Feb 12, 2016 (147)
42 JJLAB ss2028149596 Sep 14, 2016 (149)
43 USC_VALOUEV ss2156528334 Dec 20, 2016 (150)
44 HUMAN_LONGEVITY ss2203676754 Dec 20, 2016 (150)
45 TOPMED ss2368066421 Dec 20, 2016 (150)
46 SYSTEMSBIOZJU ss2628564359 Nov 08, 2017 (151)
47 ILLUMINA ss2633177806 Nov 08, 2017 (151)
48 ILLUMINA ss2633177807 Nov 08, 2017 (151)
49 GRF ss2700961861 Nov 08, 2017 (151)
50 GNOMAD ss2930022029 Nov 08, 2017 (151)
51 AFFY ss2985027781 Nov 08, 2017 (151)
52 SWEGEN ss3012536580 Nov 08, 2017 (151)
53 ILLUMINA ss3021588099 Nov 08, 2017 (151)
54 BIOINF_KMB_FNS_UNIBA ss3027900375 Nov 08, 2017 (151)
55 TOPMED ss3216523435 Nov 08, 2017 (151)
56 CSHL ss3350902118 Nov 08, 2017 (151)
57 ILLUMINA ss3627267948 Jul 20, 2018 (151)
58 ILLUMINA ss3627267949 Jul 20, 2018 (151)
59 ILLUMINA ss3634586926 Jul 20, 2018 (151)
60 ILLUMINA ss3638062610 Jul 20, 2018 (151)
61 ILLUMINA ss3639044803 Jul 20, 2018 (151)
62 ILLUMINA ss3639831804 Jul 20, 2018 (151)
63 ILLUMINA ss3640294253 Jul 20, 2018 (151)
64 ILLUMINA ss3643048494 Jul 20, 2018 (151)
65 ILLUMINA ss3643882217 Jul 20, 2018 (151)
66 ILLUMINA ss3644635677 Jul 20, 2018 (151)
67 1000Genomes NC_000014.8 - 81523128 Jul 20, 2018 (151)
68 The Genome Aggregation Database NC_000014.8 - 81523128 Jul 20, 2018 (151)
69 Trans-Omics for Precision Medicine NC_000014.9 - 81056784 Jul 20, 2018 (151)
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)
rs61703368 May 27, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss90010634, ss108496192, ss168388660, ss171380897, ss255141454, ss282081786, ss286877724, ss1695370967, ss1713460494, ss3639044803, ss3639831804, ss3643048494, ss3643882217 NC_000014.7:80592880:T= NC_000014.9:81056783:T= (self)
64832897, 63723554, ss226675833, ss236621273, ss243039752, ss491488020, ss536948257, ss564218298, ss659910662, ss780682352, ss783355699, ss832820858, ss833411688, ss991363520, ss1079815884, ss1351821228, ss1577380195, ss1752144487, ss1917891242, ss1934734198, ss1946382540, ss1959570878, ss2028149596, ss2156528334, ss2368066421, ss2628564359, ss2633177806, ss2633177807, ss2700961861, ss2930022029, ss2985027781, ss3012536580, ss3021588099, ss3350902118, ss3627267948, ss3627267949, ss3634586926, ss3638062610, ss3640294253, ss3644635677 NC_000014.8:81523127:T= NC_000014.9:81056783:T= (self)
120938014, ss2203676754, ss3027900375, ss3216523435 NC_000014.9:81056783:T= NC_000014.9:81056783:T= (self)
ss24104316, ss67177155, ss67537799, ss68174320, ss70655173, ss71214594, ss74935694, ss85364658, ss134074675, ss153628771, ss159308795, ss172750253 NT_026437.12:62523127:T= NC_000014.9:81056783:T= (self)
ss90010634, ss108496192, ss168388660, ss171380897, ss255141454, ss282081786, ss286877724, ss1695370967, ss1713460494, ss3639044803, ss3639831804, ss3643048494, ss3643882217 NC_000014.7:80592880:T>C NC_000014.9:81056783:T>C (self)
64832897, 63723554, ss226675833, ss236621273, ss243039752, ss491488020, ss536948257, ss564218298, ss659910662, ss780682352, ss783355699, ss832820858, ss833411688, ss991363520, ss1079815884, ss1351821228, ss1577380195, ss1752144487, ss1917891242, ss1934734198, ss1946382540, ss1959570878, ss2028149596, ss2156528334, ss2368066421, ss2628564359, ss2633177806, ss2633177807, ss2700961861, ss2930022029, ss2985027781, ss3012536580, ss3021588099, ss3350902118, ss3627267948, ss3627267949, ss3634586926, ss3638062610, ss3640294253, ss3644635677 NC_000014.8:81523127:T>C NC_000014.9:81056783:T>C (self)
120938014, ss2203676754, ss3027900375, ss3216523435 NC_000014.9:81056783:T>C NC_000014.9:81056783:T>C (self)
ss24104316, ss67177155, ss67537799, ss68174320, ss70655173, ss71214594, ss74935694, ss85364658, ss134074675, ss153628771, ss159308795, ss172750253 NT_026437.12:62523127:T>C NC_000014.9:81056783: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 rs17111394

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: 0.1.4.post833+d3ba21e