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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 Aliases 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.

rs10092491

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr8:28553555 (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>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.41575 (52205/125568, TOPMED)
T=0.4075 (32070/78700, PAGE_STUDY)
T=0.4192 (13129/31320, GnomAD) (+ 6 more)
T=0.384 (1925/5008, 1000G)
T=0.409 (1831/4480, Estonian)
T=0.442 (1704/3854, ALSPAC)
T=0.443 (1642/3708, TWINSUK)
T=0.47 (285/600, NorthernSweden)
T=0.30 (64/216, Vietnamese)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FZD3 : Intron Variant
Publications
4 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 8 NC_000008.11:g.28553555T>A
GRCh38.p12 chr 8 NC_000008.11:g.28553555T>C
GRCh37.p13 chr 8 NC_000008.10:g.28411072T>A
GRCh37.p13 chr 8 NC_000008.10:g.28411072T>C
FZD3 RefSeqGene NG_029723.1:g.64351T>A
FZD3 RefSeqGene NG_029723.1:g.64351T>C
Gene: FZD3, frizzled class receptor 3 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
FZD3 transcript variant 1 NM_017412.4:c. N/A Intron Variant
FZD3 transcript variant 2 NM_145866.1:c. N/A Intron Variant
FZD3 transcript variant X1 XM_017013841.1:c. N/A Intron Variant
FZD3 transcript variant X3 XM_017013842.1:c. N/A Genic Downstream Transcript Variant
FZD3 transcript variant X4 XM_017013843.1:c. N/A Genic Downstream Transcript Variant
FZD3 transcript variant X5 XM_017013844.1:c. N/A Genic Downstream Transcript Variant
FZD3 transcript variant X6 XR_001745597.2:n. N/A Intron Variant
FZD3 transcript variant X2 XR_949476.2: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
TopMed Global Study-wide 125568 T=0.41575 C=0.58425
The PAGE Study Global Study-wide 78700 T=0.4075 C=0.5925
The PAGE Study AfricanAmerican Sub 32514 T=0.4166 C=0.5834
The PAGE Study Mexican Sub 10810 T=0.4514 C=0.5486
The PAGE Study Asian Sub 8318 T=0.371 C=0.629
The PAGE Study PuertoRican Sub 7918 T=0.409 C=0.591
The PAGE Study NativeHawaiian Sub 4534 T=0.316 C=0.684
The PAGE Study Cuban Sub 4230 T=0.416 C=0.584
The PAGE Study Dominican Sub 3828 T=0.396 C=0.604
The PAGE Study CentralAmerican Sub 2450 T=0.391 C=0.609
The PAGE Study SouthAmerican Sub 1982 T=0.381 C=0.619
The PAGE Study NativeAmerican Sub 1260 T=0.459 C=0.541
The PAGE Study SouthAsian Sub 856 T=0.37 C=0.63
gnomAD - Genomes Global Study-wide 31320 T=0.4192 C=0.5808
gnomAD - Genomes European Sub 18866 T=0.4261 C=0.5739
gnomAD - Genomes African Sub 8684 T=0.417 C=0.583
gnomAD - Genomes East Asian Sub 1552 T=0.355 C=0.645
gnomAD - Genomes Other Sub 1086 T=0.408 C=0.592
gnomAD - Genomes American Sub 842 T=0.44 C=0.56
gnomAD - Genomes Ashkenazi Jewish Sub 290 T=0.36 C=0.64
1000Genomes Global Study-wide 5008 T=0.384 C=0.616
1000Genomes African Sub 1322 T=0.402 C=0.598
1000Genomes East Asian Sub 1008 T=0.347 C=0.653
1000Genomes Europe Sub 1006 T=0.407 C=0.593
1000Genomes South Asian Sub 978 T=0.37 C=0.63
1000Genomes American Sub 694 T=0.39 C=0.61
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.409 C=0.591
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.442 C=0.558
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.443 C=0.557
Northern Sweden ACPOP Study-wide 600 T=0.47 C=0.53
A Vietnamese Genetic Variation Database Global Study-wide 216 T=0.30 C=0.70
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 C Note
GRCh38.p12 chr 8 NC_000008.11:g.28...

NC_000008.11:g.28553555=

NC_000008.11:g.28...

NC_000008.11:g.28553555T>A

NC_000008.11:g.28...

NC_000008.11:g.28553555T>C

GRCh37.p13 chr 8 NC_000008.10:g.28...

NC_000008.10:g.28411072=

NC_000008.10:g.28...

NC_000008.10:g.28411072T>A

NC_000008.10:g.28...

NC_000008.10:g.28411072T>C

FZD3 RefSeqGene NG_029723.1:g.64351= NG_029723.1:g.643...

NG_029723.1:g.64351T>A

NG_029723.1:g.643...

NG_029723.1:g.64351T>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#.

91 SubSNP, 9 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss13948468 Dec 05, 2003 (119)
2 CSHL-HAPMAP ss20346331 Feb 27, 2004 (120)
3 SSAHASNP ss22713395 Apr 05, 2004 (121)
4 ABI ss44906151 Mar 13, 2006 (126)
5 ILLUMINA ss66869024 Nov 30, 2006 (127)
6 ILLUMINA ss66944322 Nov 30, 2006 (127)
7 ILLUMINA ss68077625 Dec 12, 2006 (127)
8 ILLUMINA ss70464468 May 26, 2008 (130)
9 ILLUMINA ss70985593 May 17, 2007 (127)
10 ILLUMINA ss75804912 Dec 07, 2007 (129)
11 HGSV ss80962968 Dec 16, 2007 (130)
12 HGSV ss84176815 Dec 16, 2007 (130)
13 KRIBB_YJKIM ss84902888 Dec 16, 2007 (130)
14 HGSV ss85014117 Dec 16, 2007 (130)
15 BCMHGSC_JDW ss93862483 Mar 25, 2008 (129)
16 HUMANGENOME_JCVI ss97862770 Feb 06, 2009 (130)
17 BGI ss105609243 Feb 06, 2009 (130)
18 1000GENOMES ss112946576 Jan 25, 2009 (130)
19 1000GENOMES ss115197951 Jan 25, 2009 (130)
20 ILLUMINA-UK ss115876912 Feb 14, 2009 (130)
21 ENSEMBL ss134437397 Dec 01, 2009 (131)
22 ENSEMBL ss143363994 Dec 01, 2009 (131)
23 ILLUMINA ss152565994 Dec 01, 2009 (131)
24 GMI ss156198659 Dec 01, 2009 (131)
25 ILLUMINA ss159108419 Dec 01, 2009 (131)
26 COMPLETE_GENOMICS ss164288534 Jul 04, 2010 (132)
27 COMPLETE_GENOMICS ss166458271 Jul 04, 2010 (132)
28 ILLUMINA ss169652688 Jul 04, 2010 (132)
29 BUSHMAN ss198973435 Jul 04, 2010 (132)
30 BCM-HGSC-SUB ss208682621 Jul 04, 2010 (132)
31 1000GENOMES ss223624570 Jul 14, 2010 (132)
32 1000GENOMES ss234380912 Jul 15, 2010 (132)
33 1000GENOMES ss241249949 Jul 15, 2010 (132)
34 BL ss254223791 May 09, 2011 (134)
35 GMI ss279750886 May 04, 2012 (137)
36 GMI ss285820161 Apr 25, 2013 (138)
37 PJP ss294247820 May 09, 2011 (134)
38 ILLUMINA ss536575116 Sep 08, 2015 (146)
39 TISHKOFF ss560647428 Apr 25, 2013 (138)
40 SSMP ss655081585 Apr 25, 2013 (138)
41 ILLUMINA ss778686244 Sep 08, 2015 (146)
42 ILLUMINA ss832621190 Jul 13, 2019 (153)
43 ILLUMINA ss834144905 Sep 08, 2015 (146)
44 EVA-GONL ss985344520 Aug 21, 2014 (142)
45 JMKIDD_LAB ss1075394161 Aug 21, 2014 (142)
46 1000GENOMES ss1329184840 Aug 21, 2014 (142)
47 DDI ss1431464228 Apr 01, 2015 (144)
48 EVA_GENOME_DK ss1582622773 Apr 01, 2015 (144)
49 EVA_DECODE ss1594937859 Apr 01, 2015 (144)
50 EVA_UK10K_ALSPAC ss1620281377 Apr 01, 2015 (144)
51 EVA_UK10K_TWINSUK ss1663275410 Apr 01, 2015 (144)
52 EVA_SVP ss1713026887 Apr 01, 2015 (144)
53 HAMMER_LAB ss1805465738 Sep 08, 2015 (146)
54 WEILL_CORNELL_DGM ss1928633976 Feb 12, 2016 (147)
55 ILLUMINA ss1959100697 Feb 12, 2016 (147)
56 GENOMED ss1970947118 Jul 19, 2016 (147)
57 JJLAB ss2025019875 Sep 14, 2016 (149)
58 ILLUMINA ss2095209612 Dec 20, 2016 (150)
59 USC_VALOUEV ss2153241920 Dec 20, 2016 (150)
60 HUMAN_LONGEVITY ss2301849512 Dec 20, 2016 (150)
61 TOPMED ss2471506591 Dec 20, 2016 (150)
62 SYSTEMSBIOZJU ss2626993743 Nov 08, 2017 (151)
63 ILLUMINA ss2634730655 Nov 08, 2017 (151)
64 ILLUMINA ss2635182024 Nov 08, 2017 (151)
65 GRF ss2709004422 Nov 08, 2017 (151)
66 GNOMAD ss2864842310 Nov 08, 2017 (151)
67 SWEGEN ss3002911695 Nov 08, 2017 (151)
68 ILLUMINA ss3022833423 Nov 08, 2017 (151)
69 BIOINF_KMB_FNS_UNIBA ss3026301280 Nov 08, 2017 (151)
70 CSHL ss3348112873 Nov 08, 2017 (151)
71 TOPMED ss3557599157 Nov 08, 2017 (151)
72 TOPMED ss3557599158 Nov 08, 2017 (151)
73 ILLUMINA ss3630030514 Oct 12, 2018 (152)
74 ILLUMINA ss3632630641 Oct 12, 2018 (152)
75 ILLUMINA ss3638752640 Oct 12, 2018 (152)
76 ILLUMINA ss3639379053 Oct 12, 2018 (152)
77 ILLUMINA ss3639984121 Oct 12, 2018 (152)
78 ILLUMINA ss3643684087 Oct 12, 2018 (152)
79 ILLUMINA ss3644027639 Oct 12, 2018 (152)
80 URBANLAB ss3648883745 Oct 12, 2018 (152)
81 ILLUMINA ss3653374762 Oct 12, 2018 (152)
82 EGCUT_WGS ss3670596864 Jul 13, 2019 (153)
83 EVA_DECODE ss3721693736 Jul 13, 2019 (153)
84 ILLUMINA ss3726526918 Jul 13, 2019 (153)
85 ACPOP ss3735527255 Jul 13, 2019 (153)
86 EVA ss3767803902 Jul 13, 2019 (153)
87 PAGE_CC ss3771434022 Jul 13, 2019 (153)
88 PACBIO ss3786105355 Jul 13, 2019 (153)
89 PACBIO ss3791369217 Jul 13, 2019 (153)
90 PACBIO ss3796250480 Jul 13, 2019 (153)
91 KHV_HUMAN_GENOMES ss3810965111 Jul 13, 2019 (153)
92 1000Genomes NC_000008.10 - 28411072 Oct 12, 2018 (152)
93 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 28411072 Oct 12, 2018 (152)
94 Genetic variation in the Estonian population NC_000008.10 - 28411072 Oct 12, 2018 (152)
95 gnomAD - Genomes NC_000008.10 - 28411072 Jul 13, 2019 (153)
96 Northern Sweden NC_000008.10 - 28411072 Jul 13, 2019 (153)
97 The PAGE Study NC_000008.11 - 28553555 Jul 13, 2019 (153)
98 TopMed NC_000008.11 - 28553555 Oct 12, 2018 (152)
99 UK 10K study - Twins NC_000008.10 - 28411072 Oct 12, 2018 (152)
100 A Vietnamese Genetic Variation Database NC_000008.10 - 28411072 Jul 13, 2019 (153)
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)
rs61418043 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3557599157 NC_000008.11:28553554:T:A NC_000008.11:28553554:T:A (self)
ss80962968, ss84176815, ss85014117, ss93862483, ss112946576, ss115197951, ss115876912, ss164288534, ss166458271, ss198973435, ss208682621, ss254223791, ss279750886, ss285820161, ss294247820, ss1594937859, ss1713026887, ss2635182024, ss3639379053, ss3639984121, ss3643684087, ss3644027639 NC_000008.9:28466990:T:C NC_000008.11:28553554:T:C (self)
41288210, 22958287, 16335112, 112767026, 8812120, 22958287, 5119090, ss223624570, ss234380912, ss241249949, ss536575116, ss560647428, ss655081585, ss778686244, ss832621190, ss834144905, ss985344520, ss1075394161, ss1329184840, ss1431464228, ss1582622773, ss1620281377, ss1663275410, ss1805465738, ss1928633976, ss1959100697, ss1970947118, ss2025019875, ss2095209612, ss2153241920, ss2471506591, ss2626993743, ss2634730655, ss2709004422, ss2864842310, ss3002911695, ss3022833423, ss3348112873, ss3630030514, ss3632630641, ss3638752640, ss3653374762, ss3670596864, ss3735527255, ss3767803902, ss3786105355, ss3791369217, ss3796250480 NC_000008.10:28411071:T:C NC_000008.11:28553554:T:C (self)
655491, 386070180, ss2301849512, ss3026301280, ss3557599158, ss3648883745, ss3721693736, ss3726526918, ss3771434022, ss3810965111 NC_000008.11:28553554:T:C NC_000008.11:28553554:T:C (self)
ss13948468, ss20346331, ss22713395 NT_023666.16:6785358:T:C NC_000008.11:28553554:T:C (self)
ss44906151, ss66869024, ss66944322, ss68077625, ss70464468, ss70985593, ss75804912, ss84902888, ss97862770, ss105609243, ss134437397, ss143363994, ss152565994, ss156198659, ss159108419, ss169652688 NT_167187.1:16269217:T:C NC_000008.11:28553554: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.

4 citations for rs10092491
PMID Title Author Year Journal
23771752 Allele frequencies for 40 autosomal SNP loci typed for US population samples using electrospray ionization mass spectrometry. Kiesler KM et al. 2013 Croatian medical journal
26522768 Bone marrow chimerism detection using next generation sequencing based on single nucleotide polymorphisms following liver transplantation: comparison with short tandem repeat-PCR. Kim J et al. 2016 Annals of laboratory medicine
26691610 Parallel Analysis of 124 Universal SNPs for Human Identification by Targeted Semiconductor Sequencing. Zhang S et al. 2015 Scientific reports
29121662 Qualitative and quantitative assessment of Illumina's forensic STR and SNP kits on MiSeq FGx™. Sharma V et al. 2017 PloS one

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.post308+0fe9b3b