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dbSNP Short Genetic Variations

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.

rs9468693

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr6:30152860 (GRCh38.p12) 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=0.11911 (14957/125568, TOPMED)
C=0.1144 (3541/30946, GnomAD)
C=0.111 (557/5008, 1000G) (+ 3 more)
C=0.067 (299/4480, Estonian)
C=0.073 (282/3854, ALSPAC)
C=0.073 (272/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TRIM10 : 3 Prime UTR 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.p12 chr 6 NC_000006.12:g.30152860T>C
GRCh37.p13 chr 6 NC_000006.11:g.30120637T>C
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.1632668T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.1632774T>C
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.1407989T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.1413585T>C
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.1408777T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.1414362T>C
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.1451788T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.1451086T>C
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.1463582T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.1469202T>C
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.1496938T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.1502523T>C
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.2:g.1410956T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.1:g.1360872T>C
Gene: TRIM10, tripartite motif containing 10 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TRIM10 transcript variant 2 NM_052828.2:c. N/A 3 Prime UTR Variant
TRIM10 transcript variant 1 NM_006778.3:c. N/A 3 Prime UTR Variant
TRIM10 transcript variant X1 XM_011514221.1:c. N/A 3 Prime UTR Variant
TRIM10 transcript variant X4 XM_011514225.1:c. N/A 3 Prime UTR Variant
TRIM10 transcript variant X2 XM_011514222.2:c. N/A 3 Prime UTR Variant
TRIM10 transcript variant X3 XM_011514223.2:c. N/A 3 Prime UTR 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
TopMed Global Study-wide 125568 T=0.88089 C=0.11911
gnomAD - Genomes Global Study-wide 30946 T=0.8856 C=0.1144
gnomAD - Genomes European Sub 18494 T=0.9277 C=0.0723
gnomAD - Genomes African Sub 8708 T=0.768 C=0.232
gnomAD - Genomes East Asian Sub 1622 T=0.990 C=0.010
gnomAD - Genomes Other Sub 982 T=0.92 C=0.08
gnomAD - Genomes American Sub 838 T=0.92 C=0.08
gnomAD - Genomes Ashkenazi Jewish Sub 302 T=0.92 C=0.08
1000Genomes Global Study-wide 5008 T=0.889 C=0.111
1000Genomes African Sub 1322 T=0.765 C=0.235
1000Genomes East Asian Sub 1008 T=0.987 C=0.013
1000Genomes Europe Sub 1006 T=0.896 C=0.104
1000Genomes South Asian Sub 978 T=0.93 C=0.07
1000Genomes American Sub 694 T=0.91 C=0.09
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.933 C=0.067
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.927 C=0.073
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.927 C=0.073
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.p12 chr 6 NC_000006.12:g.30152860T= NC_000006.12:g.30152860T>C
GRCh37.p13 chr 6 NC_000006.11:g.30120637T= NC_000006.11:g.30120637T>C
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.1632668T= NT_113891.3:g.1632668T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.1632774T= NT_113891.2:g.1632774T>C
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.1407989T= NT_167248.2:g.1407989T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.1413585T= NT_167248.1:g.1413585T>C
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.1408777T= NT_167245.2:g.1408777T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.1414362T= NT_167245.1:g.1414362T>C
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.1451788T= NT_167249.2:g.1451788T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.1451086T= NT_167249.1:g.1451086T>C
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.1463582T= NT_167246.2:g.1463582T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.1469202T= NT_167246.1:g.1469202T>C
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.1496938T= NT_167247.2:g.1496938T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.1502523T= NT_167247.1:g.1502523T>C
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.2:g.1410956T= NT_167244.2:g.1410956T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.1:g.1360872T= NT_167244.1:g.1360872T>C
TRIM10 transcript variant 1 NM_006778.3:c.*1109A= NM_006778.3:c.*1109A>G
TRIM10 transcript variant X3 XM_011514223.2:c.*1109A= XM_011514223.2:c.*1109A>G
TRIM10 transcript variant 2 NM_052828.2:c.*828A= NM_052828.2:c.*828A>G
TRIM10 transcript variant X2 XM_011514222.2:c.*1109A= XM_011514222.2:c.*1109A>G
TRIM10 transcript variant X4 XM_011514225.1:c.*828A= XM_011514225.1:c.*828A>G
TRIM10 transcript variant X1 XM_011514221.1:c.*1109A= XM_011514221.1:c.*1109A>G
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#.

71 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss13096265 Dec 05, 2003 (119)
2 CSHL-HAPMAP ss17147786 Feb 27, 2004 (120)
3 FHCRC ss23136000 Sep 20, 2004 (126)
4 ABI ss42728452 Mar 11, 2006 (126)
5 SI_EXO ss52083517 Oct 14, 2006 (127)
6 ILLUMINA ss65736056 Oct 14, 2006 (127)
7 ILLUMINA ss74899656 Dec 07, 2007 (129)
8 KRIBB_YJKIM ss119592988 Dec 01, 2009 (131)
9 ILLUMINA ss160989939 Dec 01, 2009 (131)
10 ILLUMINA ss174847483 Jul 04, 2010 (135)
11 1000GENOMES ss211808027 Jul 14, 2010 (137)
12 1000GENOMES ss222291991 Jul 14, 2010 (137)
13 1000GENOMES ss233387128 Jul 14, 2010 (137)
14 GMI ss278714413 May 04, 2012 (137)
15 PJP ss293820354 May 09, 2011 (137)
16 ILLUMINA ss481906966 May 04, 2012 (137)
17 ILLUMINA ss481940074 May 04, 2012 (137)
18 ILLUMINA ss482898263 Sep 08, 2015 (146)
19 ILLUMINA ss485747451 May 04, 2012 (137)
20 ILLUMINA ss537601342 Sep 08, 2015 (146)
21 TISHKOFF ss559101754 Apr 25, 2013 (138)
22 SSMP ss653018899 Apr 25, 2013 (138)
23 ILLUMINA ss778639744 Sep 08, 2015 (146)
24 ILLUMINA ss783319504 Sep 08, 2015 (146)
25 ILLUMINA ss784271439 Sep 08, 2015 (146)
26 ILLUMINA ss832581070 Sep 08, 2015 (146)
27 ILLUMINA ss834097438 Sep 08, 2015 (146)
28 EVA-GONL ss982744380 Aug 21, 2014 (142)
29 JMKIDD_LAB ss1073492672 Aug 21, 2014 (142)
30 1000GENOMES ss1319512106 Aug 21, 2014 (142)
31 HAMMER_LAB ss1397447621 Sep 08, 2015 (146)
32 EVA_GENOME_DK ss1581596248 Apr 01, 2015 (144)
33 EVA_DECODE ss1592291736 Apr 01, 2015 (144)
34 EVA_UK10K_ALSPAC ss1615250917 Apr 01, 2015 (144)
35 EVA_UK10K_TWINSUK ss1658244950 Apr 01, 2015 (144)
36 EVA_SVP ss1712848607 Apr 01, 2015 (144)
37 ILLUMINA ss1752625321 Sep 08, 2015 (146)
38 HAMMER_LAB ss1804347594 Sep 08, 2015 (146)
39 WEILL_CORNELL_DGM ss1925996555 Feb 12, 2016 (147)
40 ILLUMINA ss1958881341 Feb 12, 2016 (147)
41 GENOMED ss1970350389 Jul 19, 2016 (147)
42 JJLAB ss2023626651 Sep 14, 2016 (149)
43 ILLUMINA ss2094822482 Dec 20, 2016 (150)
44 ILLUMINA ss2094952331 Dec 20, 2016 (150)
45 ILLUMINA ss2095174636 Dec 20, 2016 (150)
46 ILLUMINA ss2095174637 Dec 20, 2016 (150)
47 USC_VALOUEV ss2151791933 Nov 08, 2017 (151)
48 HUMAN_LONGEVITY ss2282872273 Dec 20, 2016 (150)
49 TOPMED ss2451242183 Dec 20, 2016 (150)
50 ILLUMINA ss2634424388 Nov 08, 2017 (151)
51 GRF ss2707384032 Nov 08, 2017 (151)
52 ILLUMINA ss2711067191 Nov 08, 2017 (151)
53 GNOMAD ss2837312695 Nov 08, 2017 (151)
54 AFFY ss2985990633 Nov 08, 2017 (151)
55 SWEGEN ss2998765490 Nov 08, 2017 (151)
56 ILLUMINA ss3022593055 Nov 08, 2017 (151)
57 BIOINF_KMB_FNS_UNIBA ss3025598487 Nov 08, 2017 (151)
58 TOPMED ss3493598094 Nov 08, 2017 (151)
59 ILLUMINA ss3629492389 Oct 12, 2018 (152)
60 ILLUMINA ss3632343588 Oct 12, 2018 (152)
61 ILLUMINA ss3633413371 Oct 12, 2018 (152)
62 ILLUMINA ss3634135694 Oct 12, 2018 (152)
63 ILLUMINA ss3635053709 Oct 12, 2018 (152)
64 ILLUMINA ss3635816816 Oct 12, 2018 (152)
65 ILLUMINA ss3636773554 Oct 12, 2018 (152)
66 ILLUMINA ss3637569576 Oct 12, 2018 (152)
67 ILLUMINA ss3638617128 Oct 12, 2018 (152)
68 ILLUMINA ss3640761005 Oct 12, 2018 (152)
69 ILLUMINA ss3643558344 Oct 12, 2018 (152)
70 ILLUMINA ss3653104039 Oct 12, 2018 (152)
71 ILLUMINA ss3653104040 Oct 12, 2018 (152)
72 1000Genomes NC_000006.11 - 30120637 Oct 12, 2018 (152)
73 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 30120637 Oct 12, 2018 (152)
74 Genetic variation in the Estonian population NC_000006.11 - 30120637 Oct 12, 2018 (152)
75 gnomAD - Genomes NC_000006.11 - 30120637 Oct 12, 2018 (152)
76 TopMed NC_000006.12 - 30152860 Oct 12, 2018 (152)
77 UK 10K study - Twins NC_000006.11 - 30120637 Oct 12, 2018 (152)
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)
rs17188064 Mar 11, 2006 (126)
rs112023900 Sep 17, 2011 (135)
rs114630925 May 04, 2012 (137)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss211808027, ss278714413, ss293820354, ss481906966, ss1397447621, ss1592291736, ss1712848607, ss2094952331, ss3643558344 NC_000006.10:30228615:T= NC_000006.12:30152859:T= (self)
31277514, 17437345, 12426163, 177940452, 17437345, ss222291991, ss233387128, ss481940074, ss482898263, ss485747451, ss537601342, ss559101754, ss653018899, ss778639744, ss783319504, ss784271439, ss832581070, ss834097438, ss982744380, ss1073492672, ss1319512106, ss1581596248, ss1615250917, ss1658244950, ss1752625321, ss1804347594, ss1925996555, ss1958881341, ss1970350389, ss2023626651, ss2094822482, ss2095174636, ss2095174637, ss2151791933, ss2451242183, ss2634424388, ss2707384032, ss2711067191, ss2837312695, ss2985990633, ss2998765490, ss3022593055, ss3629492389, ss3632343588, ss3633413371, ss3634135694, ss3635053709, ss3635816816, ss3636773554, ss3637569576, ss3638617128, ss3640761005, ss3653104039, ss3653104040 NC_000006.11:30120636:T= NC_000006.12:30152859:T= (self)
334861751, ss2282872273, ss3025598487, ss3493598094 NC_000006.12:30152859:T= NC_000006.12:30152859:T= (self)
ss13096265, ss17147786 NT_007592.13:20977120:T= NC_000006.12:30152859:T= (self)
ss52083517 NT_007592.14:20978887:T= NC_000006.12:30152859:T= (self)
ss23136000, ss42728452, ss65736056, ss74899656, ss119592988, ss160989939, ss174847483 NT_007592.15:30060636:T= NC_000006.12:30152859:T= (self)
ss211808027, ss278714413, ss293820354, ss481906966, ss1397447621, ss1592291736, ss1712848607, ss2094952331, ss3643558344 NC_000006.10:30228615:T>C NC_000006.12:30152859:T>C (self)
31277514, 17437345, 12426163, 177940452, 17437345, ss222291991, ss233387128, ss481940074, ss482898263, ss485747451, ss537601342, ss559101754, ss653018899, ss778639744, ss783319504, ss784271439, ss832581070, ss834097438, ss982744380, ss1073492672, ss1319512106, ss1581596248, ss1615250917, ss1658244950, ss1752625321, ss1804347594, ss1925996555, ss1958881341, ss1970350389, ss2023626651, ss2094822482, ss2095174636, ss2095174637, ss2151791933, ss2451242183, ss2634424388, ss2707384032, ss2711067191, ss2837312695, ss2985990633, ss2998765490, ss3022593055, ss3629492389, ss3632343588, ss3633413371, ss3634135694, ss3635053709, ss3635816816, ss3636773554, ss3637569576, ss3638617128, ss3640761005, ss3653104039, ss3653104040 NC_000006.11:30120636:T>C NC_000006.12:30152859:T>C (self)
334861751, ss2282872273, ss3025598487, ss3493598094 NC_000006.12:30152859:T>C NC_000006.12:30152859:T>C (self)
ss13096265, ss17147786 NT_007592.13:20977120:T>C NC_000006.12:30152859:T>C (self)
ss52083517 NT_007592.14:20978887:T>C NC_000006.12:30152859:T>C (self)
ss23136000, ss42728452, ss65736056, ss74899656, ss119592988, ss160989939, ss174847483 NT_007592.15:30060636:T>C NC_000006.12:30152859: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 rs9468693

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.post63+3f7b20b