Skip to main page content
Accesskeys

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.

rs1054135

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr8:81478525 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.19600 (24611/125568, TOPMED)
T=0.1707 (5352/31346, GnomAD)
T=0.285 (1425/5008, 1000G) (+ 5 more)
T=0.083 (373/4480, Estonian)
T=0.103 (396/3854, ALSPAC)
T=0.111 (413/3708, TWINSUK)
T=0.10 (62/600, NorthernSweden)
C=0.31 (67/214, Vietnamese)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FABP4 : 3 Prime UTR Variant
LOC101927118 : Intron Variant
Publications
8 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.81478525C>T
GRCh37.p13 chr 8 NC_000008.10:g.82390760C>T
Gene: FABP4, fatty acid binding protein 4 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FABP4 transcript NM_001442.3:c. N/A 3 Prime UTR Variant
Gene: LOC101927118, uncharacterized LOC101927118 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC101927118 transcript variant X2 XR_001745980.1:n. N/A Intron Variant
LOC101927118 transcript variant X1 XR_242492.3: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

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 C=0.80400 T=0.19600
gnomAD - Genomes Global Study-wide 31346 C=0.8293 T=0.1707
gnomAD - Genomes European Sub 18878 C=0.9070 T=0.0930
gnomAD - Genomes African Sub 8692 C=0.746 T=0.254
gnomAD - Genomes East Asian Sub 1552 C=0.337 T=0.663
gnomAD - Genomes Other Sub 1086 C=0.876 T=0.124
gnomAD - Genomes American Sub 848 C=0.76 T=0.24
gnomAD - Genomes Ashkenazi Jewish Sub 290 C=0.93 T=0.07
1000Genomes Global Study-wide 5008 C=0.715 T=0.285
1000Genomes African Sub 1322 C=0.716 T=0.284
1000Genomes East Asian Sub 1008 C=0.323 T=0.677
1000Genomes Europe Sub 1006 C=0.912 T=0.088
1000Genomes South Asian Sub 978 C=0.87 T=0.13
1000Genomes American Sub 694 C=0.78 T=0.22
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.917 T=0.083
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.897 T=0.103
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.889 T=0.111
Northern Sweden ACPOP Study-wide 600 C=0.90 T=0.10
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.31 T=0.69
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.p12 chr 8 NC_000008.11:g.81478525= NC_000008.11:g.81478525C>T
GRCh37.p13 chr 8 NC_000008.10:g.82390760= NC_000008.10:g.82390760C>T
FABP4 transcript NM_001442.2:c.*340= NM_001442.2:c.*340G>A
FABP4 transcript NM_001442.3:c.*340= NM_001442.3:c.*340G>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#.

93 SubSNP, 8 Frequency submissions
No Submitter Submission ID Date (Build)
1 LEE ss1531884 Oct 05, 2000 (86)
2 LEE ss4396137 May 29, 2002 (106)
3 LEE ss4420999 May 29, 2002 (106)
4 YUSUKE ss4474852 Jul 03, 2002 (106)
5 BCM_SSAHASNP ss10458842 Jul 11, 2003 (116)
6 WI_SSAHASNP ss14353940 Dec 05, 2003 (119)
7 CGAP-GAI ss16240717 Feb 27, 2004 (120)
8 PERLEGEN ss23483408 Sep 20, 2004 (123)
9 ILLUMINA ss65754353 Oct 15, 2006 (127)
10 ILLUMINA ss66896213 Dec 03, 2006 (127)
11 ILLUMINA ss67005931 Dec 03, 2006 (127)
12 ILLUMINA ss68086902 Dec 12, 2006 (127)
13 ILLUMINA ss70492261 May 27, 2008 (130)
14 ILLUMINA ss71016924 May 17, 2007 (127)
15 ILLUMINA ss75689881 Dec 06, 2007 (129)
16 KRIBB_YJKIM ss83674726 Dec 16, 2007 (130)
17 HGSV ss84366365 Dec 16, 2007 (130)
18 BGI ss105628346 Feb 06, 2009 (130)
19 1000GENOMES ss113294045 Jan 25, 2009 (130)
20 ILLUMINA ss152794685 Dec 01, 2009 (131)
21 GMI ss156567563 Dec 01, 2009 (131)
22 ILLUMINA ss159137067 Dec 01, 2009 (131)
23 ILLUMINA ss159910439 Dec 01, 2009 (131)
24 COMPLETE_GENOMICS ss165112865 Jul 04, 2010 (132)
25 ILLUMINA ss170380370 Jul 04, 2010 (132)
26 1000GENOMES ss223809152 Jul 14, 2010 (132)
27 1000GENOMES ss234511084 Jul 15, 2010 (132)
28 1000GENOMES ss241350872 Jul 15, 2010 (132)
29 ILLUMINA ss244269649 Jul 04, 2010 (132)
30 GMI ss279884830 May 04, 2012 (137)
31 PJP ss294115348 May 09, 2011 (134)
32 ILLUMINA ss410888129 Sep 17, 2011 (135)
33 ILLUMINA ss479318454 May 04, 2012 (137)
34 ILLUMINA ss479321684 May 04, 2012 (137)
35 ILLUMINA ss479707641 Sep 08, 2015 (146)
36 ILLUMINA ss484459546 May 04, 2012 (137)
37 ILLUMINA ss536624220 Sep 08, 2015 (146)
38 TISHKOFF ss560868918 Apr 25, 2013 (138)
39 SSMP ss655308026 Apr 25, 2013 (138)
40 ILLUMINA ss778736955 Sep 08, 2015 (146)
41 ILLUMINA ss782676331 Sep 08, 2015 (146)
42 ILLUMINA ss783644965 Sep 08, 2015 (146)
43 ILLUMINA ss831927070 Sep 08, 2015 (146)
44 ILLUMINA ss832649727 Jul 13, 2019 (153)
45 ILLUMINA ss834196502 Sep 08, 2015 (146)
46 EVA-GONL ss985723726 Aug 21, 2014 (142)
47 JMKIDD_LAB ss1075672706 Aug 21, 2014 (142)
48 1000GENOMES ss1330650636 Aug 21, 2014 (142)
49 DDI ss1431572801 Apr 01, 2015 (144)
50 EVA_GENOME_DK ss1582761149 Apr 01, 2015 (144)
51 EVA_DECODE ss1595326936 Apr 01, 2015 (144)
52 EVA_UK10K_ALSPAC ss1621058110 Apr 01, 2015 (144)
53 EVA_UK10K_TWINSUK ss1664052143 Apr 01, 2015 (144)
54 EVA_SVP ss1713049484 Apr 01, 2015 (144)
55 ILLUMINA ss1752743662 Sep 08, 2015 (146)
56 HAMMER_LAB ss1805620194 Sep 08, 2015 (146)
57 WEILL_CORNELL_DGM ss1929006511 Feb 12, 2016 (147)
58 GENOMED ss1971022368 Jul 19, 2016 (147)
59 JJLAB ss2025208464 Sep 14, 2016 (149)
60 USC_VALOUEV ss2153433033 Dec 20, 2016 (150)
61 HUMAN_LONGEVITY ss2304768565 Dec 20, 2016 (150)
62 TOPMED ss2474641297 Dec 20, 2016 (150)
63 SYSTEMSBIOZJU ss2627080102 Nov 08, 2017 (151)
64 ILLUMINA ss2634768552 Nov 08, 2017 (151)
65 GRF ss2709206912 Nov 08, 2017 (151)
66 ILLUMINA ss2711142066 Nov 08, 2017 (151)
67 GNOMAD ss2869058240 Nov 08, 2017 (151)
68 SWEGEN ss3003496924 Nov 08, 2017 (151)
69 BIOINF_KMB_FNS_UNIBA ss3026388879 Nov 08, 2017 (151)
70 CSHL ss3348268713 Nov 08, 2017 (151)
71 TOPMED ss3567421682 Nov 08, 2017 (151)
72 ILLUMINA ss3630097532 Oct 12, 2018 (152)
73 ILLUMINA ss3632666605 Oct 12, 2018 (152)
74 ILLUMINA ss3633506537 Oct 12, 2018 (152)
75 ILLUMINA ss3634233579 Oct 12, 2018 (152)
76 ILLUMINA ss3635178694 Oct 12, 2018 (152)
77 ILLUMINA ss3635912234 Oct 12, 2018 (152)
78 ILLUMINA ss3636917761 Oct 12, 2018 (152)
79 ILLUMINA ss3637665434 Oct 12, 2018 (152)
80 ILLUMINA ss3638770091 Oct 12, 2018 (152)
81 ILLUMINA ss3639387545 Oct 12, 2018 (152)
82 ILLUMINA ss3639987688 Oct 12, 2018 (152)
83 ILLUMINA ss3640885985 Oct 12, 2018 (152)
84 ILLUMINA ss3643700313 Oct 12, 2018 (152)
85 ILLUMINA ss3644031038 Oct 12, 2018 (152)
86 OMUKHERJEE_ADBS ss3646376685 Oct 12, 2018 (152)
87 EGCUT_WGS ss3671193350 Jul 13, 2019 (153)
88 EVA_DECODE ss3722398358 Jul 13, 2019 (153)
89 ACPOP ss3735832969 Jul 13, 2019 (153)
90 ILLUMINA ss3745478564 Jul 13, 2019 (153)
91 EVA ss3768236927 Jul 13, 2019 (153)
92 ILLUMINA ss3772970974 Jul 13, 2019 (153)
93 KHV_HUMAN_GENOMES ss3811395926 Jul 13, 2019 (153)
94 1000Genomes NC_000008.10 - 82390760 Oct 12, 2018 (152)
95 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 82390760 Oct 12, 2018 (152)
96 Genetic variation in the Estonian population NC_000008.10 - 82390760 Oct 12, 2018 (152)
97 gnomAD - Genomes NC_000008.10 - 82390760 Jul 13, 2019 (153)
98 Northern Sweden NC_000008.10 - 82390760 Jul 13, 2019 (153)
99 TopMed NC_000008.11 - 81478525 Oct 12, 2018 (152)
100 UK 10K study - Twins NC_000008.10 - 82390760 Oct 12, 2018 (152)
101 A Vietnamese Genetic Variation Database NC_000008.10 - 82390760 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)
rs3174026 Jul 03, 2002 (106)
rs61526600 May 27, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss84366365, ss113294045, ss165112865, ss279884830, ss294115348, ss479318454, ss1595326936, ss1713049484, ss3639387545, ss3639987688, ss3643700313, ss3644031038 NC_000008.9:82553314:C:T NC_000008.11:81478524:C:T (self)
42802966, 23806556, 16931598, 116963895, 9117834, 23806556, 5294546, ss223809152, ss234511084, ss241350872, ss479321684, ss479707641, ss484459546, ss536624220, ss560868918, ss655308026, ss778736955, ss782676331, ss783644965, ss831927070, ss832649727, ss834196502, ss985723726, ss1075672706, ss1330650636, ss1431572801, ss1582761149, ss1621058110, ss1664052143, ss1752743662, ss1805620194, ss1929006511, ss1971022368, ss2025208464, ss2153433033, ss2474641297, ss2627080102, ss2634768552, ss2709206912, ss2711142066, ss2869058240, ss3003496924, ss3348268713, ss3630097532, ss3632666605, ss3633506537, ss3634233579, ss3635178694, ss3635912234, ss3636917761, ss3637665434, ss3638770091, ss3640885985, ss3646376685, ss3671193350, ss3735832969, ss3745478564, ss3768236927, ss3772970974 NC_000008.10:82390759:C:T NC_000008.11:81478524:C:T (self)
393951115, ss2304768565, ss3026388879, ss3567421682, ss3722398358, ss3811395926 NC_000008.11:81478524:C:T NC_000008.11:81478524:C:T (self)
ss10458842 NT_008183.16:34233309:C:T NC_000008.11:81478524:C:T (self)
ss14353940 NT_008183.17:34233309:C:T NC_000008.11:81478524:C:T (self)
ss1531884, ss4396137, ss4420999, ss4474852, ss16240717, ss23483408, ss65754353, ss66896213, ss67005931, ss68086902, ss70492261, ss71016924, ss75689881, ss83674726, ss105628346, ss152794685, ss156567563, ss159137067, ss159910439, ss170380370, ss244269649, ss410888129 NT_008183.19:34255160:C:T NC_000008.11:81478524: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.

8 citations for rs1054135
PMID Title Author Year Journal
20111020 Common genetic variants in fatty acid-binding protein-4 (FABP4) and clinical diabetes risk in the Women's Health Initiative Observational Study. Chan KH et al. 2010 Obesity (Silver Spring, Md.)
20156355 Fatty-acid binding protein 4 gene variants and childhood obesity: potential implications for insulin sensitivity and CRP levels. Khalyfa A et al. 2010 Lipids in health and disease
21504868 The human fatty acid-binding protein family: evolutionary divergences and functions. Smathers RL et al. 2011 Human genomics
21664182 Fatty-acid binding protein 4 gene polymorphisms and plasma levels in children with obstructive sleep apnea. Bhushan B et al. 2011 Sleep medicine
24043587 Common FABP4 genetic variants and plasma levels of fatty acid binding protein 4 in older adults. Mukamal KJ et al. 2013 Lipids
24159455 Development of a predictive model for type 2 diabetes mellitus using genetic and clinical data. Lee J et al. 2011 Osong public health and research perspectives
26141940 FABP4 plasma concentrations are determined by acquired metabolic derangements rather than genetic determinants. Ibarretxe D et al. 2015 Nutrition, metabolism, and cardiovascular diseases
26959740 A single-nucleotide polymorphism in the 3'-UTR region of the adipocyte fatty acid binding protein 4 gene is associated with prognosis of triple-negative breast cancer. Wang W et al. 2016 Oncotarget

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.post104+4a6ee9c