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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.

rs10894147

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chr11:129828961 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.10333 (12975/125568, TOPMED)
T=0.1041 (3222/30964, GnomAD)
T=0.100 (502/5008, 1000G) (+ 2 more)
T=0.135 (519/3854, ALSPAC)
T=0.127 (471/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TMEM45B : 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 11 NC_000011.10:g.129828961C>T
GRCh37.p13 chr 11 NC_000011.9:g.129698856C>T
Gene: TMEM45B, transmembrane protein 45B (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TMEM45B transcript NM_138788.3:c. N/A Intron Variant
TMEM45B transcript variant X4 XM_005271400.4:c. N/A Intron Variant
TMEM45B transcript variant X1 XM_011542586.2:c. N/A Intron Variant
TMEM45B transcript variant X5 XM_011542588.2:c. N/A Intron Variant
TMEM45B transcript variant X1 XM_017017188.1:c. N/A Intron Variant
TMEM45B transcript variant X2 XM_017017189.1:c. 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 C=0.89667 T=0.10333
The Genome Aggregation Database Global Study-wide 30964 C=0.8959 T=0.1041
The Genome Aggregation Database European Sub 18498 C=0.8872 T=0.1128
The Genome Aggregation Database African Sub 8724 C=0.917 T=0.083
The Genome Aggregation Database East Asian Sub 1620 C=0.885 T=0.115
The Genome Aggregation Database Other Sub 982 C=0.89 T=0.11
The Genome Aggregation Database American Sub 838 C=0.89 T=0.11
The Genome Aggregation Database Ashkenazi Jewish Sub 302 C=0.91 T=0.09
1000Genomes Global Study-wide 5008 C=0.900 T=0.100
1000Genomes African Sub 1322 C=0.914 T=0.086
1000Genomes East Asian Sub 1008 C=0.904 T=0.096
1000Genomes Europe Sub 1006 C=0.899 T=0.101
1000Genomes South Asian Sub 978 C=0.90 T=0.10
1000Genomes American Sub 694 C=0.86 T=0.14
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.865 T=0.135
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.873 T=0.127
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= T Note
GRCh38.p7 chr 11 NC_000011.10:g.129828961C= NC_000011.10:g.12982896...

NC_000011.10:g.129828961C>T

GRCh37.p13 chr 11 NC_000011.9:g.129698856C= NC_000011.9:g.129698856C>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#.

76 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss15501302 Feb 27, 2004 (120)
2 CSHL-HAPMAP ss16557710 Feb 27, 2004 (120)
3 SC_SNP ss18954023 Feb 27, 2004 (120)
4 AFFY ss66457887 Dec 03, 2006 (127)
5 ILLUMINA ss66764148 Dec 03, 2006 (127)
6 ILLUMINA ss66908390 Dec 03, 2006 (127)
7 ILLUMINA ss67036727 Dec 03, 2006 (127)
8 ILLUMINA ss70383882 May 16, 2007 (127)
9 ILLUMINA ss70505944 May 27, 2008 (130)
10 ILLUMINA ss71032541 May 16, 2007 (127)
11 ILLUMINA ss75803004 Dec 06, 2007 (129)
12 AFFY ss76254018 Dec 06, 2007 (129)
13 KRIBB_YJKIM ss85025867 Dec 16, 2007 (130)
14 ILLUMINA ss121412676 Dec 01, 2009 (131)
15 ILLUMINA ss152865825 Dec 01, 2009 (131)
16 ILLUMINA ss159151099 Dec 01, 2009 (131)
17 ILLUMINA ss159935062 Dec 01, 2009 (131)
18 ILLUMINA ss169699298 Jul 04, 2010 (132)
19 ILLUMINA ss170716488 Jul 04, 2010 (132)
20 AFFY ss172988897 Jul 04, 2010 (132)
21 1000GENOMES ss225535671 Jul 14, 2010 (132)
22 1000GENOMES ss235772532 Jul 15, 2010 (132)
23 1000GENOMES ss242361596 Jul 15, 2010 (132)
24 GMI ss281223340 May 04, 2012 (137)
25 GMI ss286481890 Apr 25, 2013 (138)
26 ILLUMINA ss479393891 May 04, 2012 (137)
27 ILLUMINA ss479397123 May 04, 2012 (137)
28 ILLUMINA ss479806315 Sep 08, 2015 (146)
29 ILLUMINA ss484496966 May 04, 2012 (137)
30 ILLUMINA ss536649812 Sep 08, 2015 (146)
31 TISHKOFF ss562911186 Apr 25, 2013 (138)
32 SSMP ss658436532 Apr 25, 2013 (138)
33 ILLUMINA ss778369569 Sep 08, 2015 (146)
34 ILLUMINA ss782695022 Sep 08, 2015 (146)
35 ILLUMINA ss783663199 Sep 08, 2015 (146)
36 ILLUMINA ss825353372 Apr 01, 2015 (144)
37 ILLUMINA ss831946054 Sep 08, 2015 (146)
38 ILLUMINA ss833824429 Sep 08, 2015 (146)
39 EVA-GONL ss989103531 Aug 21, 2014 (142)
40 JMKIDD_LAB ss1078150793 Aug 21, 2014 (142)
41 1000GENOMES ss1343500071 Aug 21, 2014 (142)
42 DDI ss1426803356 Apr 01, 2015 (144)
43 EVA_GENOME_DK ss1576036704 Apr 01, 2015 (144)
44 EVA_DECODE ss1598773549 Apr 01, 2015 (144)
45 EVA_UK10K_ALSPAC ss1627754916 Apr 01, 2015 (144)
46 EVA_UK10K_TWINSUK ss1670748949 Apr 01, 2015 (144)
47 EVA_SVP ss1713296293 Apr 01, 2015 (144)
48 ILLUMINA ss1752003515 Sep 08, 2015 (146)
49 WEILL_CORNELL_DGM ss1932463085 Feb 12, 2016 (147)
50 JJLAB ss2026978522 Sep 14, 2016 (149)
51 USC_VALOUEV ss2155295746 Dec 20, 2016 (150)
52 TOPMED ss2350402790 Dec 20, 2016 (150)
53 SYSTEMSBIOZJU ss2627966041 Nov 08, 2017 (151)
54 ILLUMINA ss2632906373 Nov 08, 2017 (151)
55 GRF ss2699610908 Nov 08, 2017 (151)
56 GNOMAD ss2905943338 Nov 08, 2017 (151)
57 AFFY ss2985603861 Nov 08, 2017 (151)
58 SWEGEN ss3008995206 Nov 08, 2017 (151)
59 ILLUMINA ss3021391340 Nov 08, 2017 (151)
60 TOPMED ss3159794893 Nov 08, 2017 (151)
61 CSHL ss3349858285 Nov 08, 2017 (151)
62 ILLUMINA ss3626783164 Jul 20, 2018 (151)
63 ILLUMINA ss3630919075 Jul 20, 2018 (151)
64 ILLUMINA ss3633004939 Jul 20, 2018 (151)
65 ILLUMINA ss3633705155 Jul 20, 2018 (151)
66 ILLUMINA ss3634483386 Jul 20, 2018 (151)
67 ILLUMINA ss3635396325 Jul 20, 2018 (151)
68 ILLUMINA ss3636167468 Jul 20, 2018 (151)
69 ILLUMINA ss3637147253 Jul 20, 2018 (151)
70 ILLUMINA ss3637938940 Jul 20, 2018 (151)
71 ILLUMINA ss3638983197 Jul 20, 2018 (151)
72 ILLUMINA ss3639493101 Jul 20, 2018 (151)
73 ILLUMINA ss3640190721 Jul 20, 2018 (151)
74 ILLUMINA ss3641023055 Jul 20, 2018 (151)
75 ILLUMINA ss3641317629 Jul 20, 2018 (151)
76 ILLUMINA ss3642934652 Jul 20, 2018 (151)
77 1000Genomes NC_000011.9 - 129698856 Jul 20, 2018 (151)
78 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 129698856 Jul 20, 2018 (151)
79 The Genome Aggregation Database NC_000011.9 - 129698856 Jul 20, 2018 (151)
80 Trans-Omics for Precision Medicine NC_000011.10 - 129828961 Jul 20, 2018 (151)
81 UK 10K study - Twins NC_000011.9 - 129698856 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)
rs61646955 May 27, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss66457887, ss76254018, ss172988897, ss281223340, ss286481890, ss479393891, ss825353372, ss1598773549, ss1713296293, ss3638983197, ss3639493101, ss3642934652 NC_000011.8:129204065:C= NC_000011.10:129828960:C= (self)
56101229, 31152956, 39644860, 31152956, ss225535671, ss235772532, ss242361596, ss479397123, ss479806315, ss484496966, ss536649812, ss562911186, ss658436532, ss778369569, ss782695022, ss783663199, ss831946054, ss833824429, ss989103531, ss1078150793, ss1343500071, ss1426803356, ss1576036704, ss1627754916, ss1670748949, ss1752003515, ss1932463085, ss2026978522, ss2155295746, ss2350402790, ss2627966041, ss2632906373, ss2699610908, ss2905943338, ss2985603861, ss3008995206, ss3021391340, ss3349858285, ss3626783164, ss3630919075, ss3633004939, ss3633705155, ss3634483386, ss3635396325, ss3636167468, ss3637147253, ss3637938940, ss3640190721, ss3641023055, ss3641317629 NC_000011.9:129698855:C= NC_000011.10:129828960:C= (self)
75252984, ss3159794893 NC_000011.10:129828960:C= NC_000011.10:129828960:C= (self)
ss15501302, ss16557710, ss18954023 NT_033899.6:33242642:C= NC_000011.10:129828960:C= (self)
ss66764148, ss66908390, ss67036727, ss70383882, ss70505944, ss71032541, ss75803004, ss85025867, ss121412676, ss152865825, ss159151099, ss159935062, ss169699298, ss170716488 NT_033899.8:33261271:C= NC_000011.10:129828960:C= (self)
ss66457887, ss76254018, ss172988897, ss281223340, ss286481890, ss479393891, ss825353372, ss1598773549, ss1713296293, ss3638983197, ss3639493101, ss3642934652 NC_000011.8:129204065:C>T NC_000011.10:129828960:C>T (self)
56101229, 31152956, 39644860, 31152956, ss225535671, ss235772532, ss242361596, ss479397123, ss479806315, ss484496966, ss536649812, ss562911186, ss658436532, ss778369569, ss782695022, ss783663199, ss831946054, ss833824429, ss989103531, ss1078150793, ss1343500071, ss1426803356, ss1576036704, ss1627754916, ss1670748949, ss1752003515, ss1932463085, ss2026978522, ss2155295746, ss2350402790, ss2627966041, ss2632906373, ss2699610908, ss2905943338, ss2985603861, ss3008995206, ss3021391340, ss3349858285, ss3626783164, ss3630919075, ss3633004939, ss3633705155, ss3634483386, ss3635396325, ss3636167468, ss3637147253, ss3637938940, ss3640190721, ss3641023055, ss3641317629 NC_000011.9:129698855:C>T NC_000011.10:129828960:C>T (self)
75252984, ss3159794893 NC_000011.10:129828960:C>T NC_000011.10:129828960:C>T (self)
ss15501302, ss16557710, ss18954023 NT_033899.6:33242642:C>T NC_000011.10:129828960:C>T (self)
ss66764148, ss66908390, ss67036727, ss70383882, ss70505944, ss71032541, ss75803004, ss85025867, ss121412676, ss152865825, ss159151099, ss159935062, ss169699298, ss170716488 NT_033899.8:33261271:C>T NC_000011.10:129828960: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 rs10894147

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