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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.

rs2241883

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr2:88124547 (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=0.30290 (75214/248312, GnomAD_exome)
C=0.27032 (33943/125568, TOPMED)
C=0.29838 (36209/121352, ExAC) (+ 9 more)
C=0.2374 (18679/78698, PAGE_STUDY)
C=0.3098 (9710/31342, GnomAD)
C=0.2699 (3510/13006, GO-ESP)
C=0.223 (1118/5008, 1000G)
C=0.415 (1861/4480, Estonian)
C=0.314 (1211/3854, ALSPAC)
C=0.312 (1157/3708, TWINSUK)
C=0.24 (150/616, Vietnamese)
C=0.37 (220/600, NorthernSweden)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FABP1 : Missense 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 2 NC_000002.12:g.88124547T>C
GRCh37.p13 chr 2 NC_000002.11:g.88424066T>C
Gene: FABP1, fatty acid binding protein 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FABP1 transcript NM_001443.3:c.280A>G T [ACT] > A [GCT] Coding Sequence Variant
fatty acid-binding protein, liver NP_001434.1:p.Thr94Ala T (Thr) > A (Ala) Missense 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
gnomAD - Exomes Global Study-wide 248312 T=0.69710 C=0.30290
gnomAD - Exomes European Sub 134422 T=0.64231 C=0.35769
gnomAD - Exomes Asian Sub 48302 T=0.8145 C=0.1855
gnomAD - Exomes American Sub 33364 T=0.6918 C=0.3082
gnomAD - Exomes African Sub 16164 T=0.8338 C=0.1662
gnomAD - Exomes Ashkenazi Jewish Sub 10044 T=0.6647 C=0.3353
gnomAD - Exomes Other Sub 6016 T=0.695 C=0.305
TopMed Global Study-wide 125568 T=0.72968 C=0.27032
ExAC Global Study-wide 121352 T=0.70162 C=0.29838
ExAC Europe Sub 73332 T=0.6459 C=0.3541
ExAC Asian Sub 25142 T=0.8161 C=0.1839
ExAC American Sub 11568 T=0.6916 C=0.3084
ExAC African Sub 10402 T=0.8308 C=0.1692
ExAC Other Sub 908 T=0.68 C=0.32
The PAGE Study Global Study-wide 78698 T=0.7626 C=0.2374
The PAGE Study AfricanAmerican Sub 32512 T=0.8225 C=0.1775
The PAGE Study Mexican Sub 10810 T=0.6822 C=0.3178
The PAGE Study Asian Sub 8318 T=0.773 C=0.227
The PAGE Study PuertoRican Sub 7918 T=0.712 C=0.288
The PAGE Study NativeHawaiian Sub 4534 T=0.744 C=0.256
The PAGE Study Cuban Sub 4230 T=0.696 C=0.304
The PAGE Study Dominican Sub 3828 T=0.728 C=0.272
The PAGE Study CentralAmerican Sub 2450 T=0.720 C=0.280
The PAGE Study SouthAmerican Sub 1982 T=0.678 C=0.322
The PAGE Study NativeAmerican Sub 1260 T=0.710 C=0.290
The PAGE Study SouthAsian Sub 856 T=0.84 C=0.16
gnomAD - Genomes Global Study-wide 31342 T=0.6902 C=0.3098
gnomAD - Genomes European Sub 18872 T=0.6207 C=0.3793
gnomAD - Genomes African Sub 8702 T=0.829 C=0.171
gnomAD - Genomes East Asian Sub 1552 T=0.791 C=0.209
gnomAD - Genomes Other Sub 1086 T=0.648 C=0.352
gnomAD - Genomes American Sub 844 T=0.68 C=0.32
gnomAD - Genomes Ashkenazi Jewish Sub 286 T=0.69 C=0.31
GO Exome Sequencing Project Global Study-wide 13006 T=0.7301 C=0.2699
GO Exome Sequencing Project European American Sub 8600 T=0.677 C=0.323
GO Exome Sequencing Project African American Sub 4406 T=0.833 C=0.167
1000Genomes Global Study-wide 5008 T=0.777 C=0.223
1000Genomes African Sub 1322 T=0.861 C=0.139
1000Genomes East Asian Sub 1008 T=0.793 C=0.207
1000Genomes Europe Sub 1006 T=0.652 C=0.348
1000Genomes South Asian Sub 978 T=0.86 C=0.14
1000Genomes American Sub 694 T=0.65 C=0.35
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.585 C=0.415
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.686 C=0.314
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.688 C=0.312
A Vietnamese Genetic Variation Database Global Study-wide 616 T=0.76 C=0.24
Northern Sweden ACPOP Study-wide 600 T=0.63 C=0.37
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 2 NC_000002.12:g.88124547= NC_000002.12:g.88124547T>C
GRCh37.p13 chr 2 NC_000002.11:g.88424066= NC_000002.11:g.88424066T>C
FABP1 transcript NM_001443.2:c.280= NM_001443.2:c.280A>G
FABP1 transcript NM_001443.3:c.280= NM_001443.3:c.280A>G
fatty acid-binding protein, liver NP_001434.1:p.Thr94= NP_001434.1:p.Thr94Ala
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#.

134 SubSNP, 12 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3197965 Aug 15, 2001 (98)
2 PERLEGEN ss24160905 Sep 20, 2004 (123)
3 APPLERA_GI ss48430047 Mar 14, 2006 (126)
4 ILLUMINA ss65726333 Oct 15, 2006 (127)
5 AFFY ss66162987 Nov 30, 2006 (127)
6 ILLUMINA ss66580731 Nov 30, 2006 (127)
7 ILLUMINA ss67237002 Nov 30, 2006 (127)
8 ILLUMINA ss67633247 Nov 30, 2006 (127)
9 PERLEGEN ss68821923 May 17, 2007 (127)
10 ILLUMINA ss70715329 May 25, 2008 (130)
11 ILLUMINA ss71283157 May 17, 2007 (127)
12 ILLUMINA ss74917991 Dec 06, 2007 (129)
13 AFFY ss76207793 Dec 06, 2007 (129)
14 SI_EXO ss76895520 Dec 06, 2007 (129)
15 ILLUMINA ss79122777 Dec 15, 2007 (130)
16 KRIBB_YJKIM ss84006240 Dec 15, 2007 (130)
17 BCMHGSC_JDW ss91247879 Mar 24, 2008 (129)
18 HUMANGENOME_JCVI ss97057729 Feb 05, 2009 (130)
19 ILLUMINA ss121963338 Dec 01, 2009 (131)
20 ENSEMBL ss135788081 Dec 01, 2009 (131)
21 ENSEMBL ss138484002 Dec 01, 2009 (131)
22 ILLUMINA ss153892436 Dec 01, 2009 (131)
23 ILLUMINA ss159371648 Dec 01, 2009 (131)
24 SEATTLESEQ ss159702354 Dec 01, 2009 (131)
25 ILLUMINA ss160520394 Dec 01, 2009 (131)
26 COMPLETE_GENOMICS ss166887135 Jul 04, 2010 (132)
27 ILLUMINA ss171116590 Jul 04, 2010 (132)
28 AFFY ss172814683 Jul 04, 2010 (132)
29 ILLUMINA ss173208084 Jul 04, 2010 (132)
30 BUSHMAN ss200748415 Jul 04, 2010 (132)
31 1000GENOMES ss219381376 Jul 14, 2010 (132)
32 1000GENOMES ss231266237 Jul 14, 2010 (132)
33 1000GENOMES ss238798554 Jul 15, 2010 (132)
34 ILLUMINA ss244288465 Jul 04, 2010 (132)
35 GMI ss276563404 May 04, 2012 (137)
36 GMI ss284386575 Apr 25, 2013 (138)
37 PJP ss292311815 May 09, 2011 (134)
38 NHLBI-ESP ss342069003 May 09, 2011 (134)
39 ILLUMINA ss480481056 May 04, 2012 (137)
40 ILLUMINA ss480495416 May 04, 2012 (137)
41 ILLUMINA ss481295909 Sep 08, 2015 (146)
42 ILLUMINA ss485038018 May 04, 2012 (137)
43 1000GENOMES ss489824321 May 04, 2012 (137)
44 EXOME_CHIP ss491321551 May 04, 2012 (137)
45 CLINSEQ_SNP ss491786849 May 04, 2012 (137)
46 ILLUMINA ss537060570 Sep 08, 2015 (146)
47 TISHKOFF ss555724632 Apr 25, 2013 (138)
48 SSMP ss649321278 Apr 25, 2013 (138)
49 ILLUMINA ss778487215 Sep 08, 2015 (146)
50 ILLUMINA ss780782863 Aug 21, 2014 (142)
51 ILLUMINA ss782965248 Sep 08, 2015 (146)
52 ILLUMINA ss783463233 Aug 21, 2014 (142)
53 ILLUMINA ss783927096 Sep 08, 2015 (146)
54 ILLUMINA ss825453295 Apr 01, 2015 (144)
55 ILLUMINA ss832221517 Sep 08, 2015 (146)
56 ILLUMINA ss832883470 Jul 13, 2019 (153)
57 ILLUMINA ss833943167 Sep 08, 2015 (146)
58 JMKIDD_LAB ss974442990 Aug 21, 2014 (142)
59 EVA-GONL ss977095780 Aug 21, 2014 (142)
60 JMKIDD_LAB ss1067439067 Aug 21, 2014 (142)
61 JMKIDD_LAB ss1069313970 Aug 21, 2014 (142)
62 1000GENOMES ss1298258123 Aug 21, 2014 (142)
63 HAMMER_LAB ss1397299270 Sep 08, 2015 (146)
64 DDI ss1428653801 Apr 01, 2015 (144)
65 EVA_GENOME_DK ss1578983305 Apr 01, 2015 (144)
66 EVA_FINRISK ss1584019722 Apr 01, 2015 (144)
67 EVA_DECODE ss1586517235 Apr 01, 2015 (144)
68 EVA_UK10K_ALSPAC ss1604048269 Apr 01, 2015 (144)
69 EVA_UK10K_TWINSUK ss1647042302 Apr 01, 2015 (144)
70 EVA_EXAC ss1686398315 Apr 01, 2015 (144)
71 EVA_MGP ss1710969994 Apr 01, 2015 (144)
72 EVA_SVP ss1712473910 Apr 01, 2015 (144)
73 ILLUMINA ss1752373518 Sep 08, 2015 (146)
74 ILLUMINA ss1752373519 Sep 08, 2015 (146)
75 HAMMER_LAB ss1797105688 Sep 08, 2015 (146)
76 ILLUMINA ss1917751502 Feb 12, 2016 (147)
77 WEILL_CORNELL_DGM ss1920333036 Feb 12, 2016 (147)
78 ILLUMINA ss1946046389 Feb 12, 2016 (147)
79 ILLUMINA ss1958437965 Feb 12, 2016 (147)
80 GENOMED ss1968829258 Jul 19, 2016 (147)
81 JJLAB ss2020700153 Sep 14, 2016 (149)
82 USC_VALOUEV ss2148744656 Dec 20, 2016 (150)
83 HUMAN_LONGEVITY ss2232381713 Dec 20, 2016 (150)
84 TOPMED ss2398400423 Dec 20, 2016 (150)
85 SYSTEMSBIOZJU ss2624857784 Nov 08, 2017 (151)
86 ILLUMINA ss2633645446 Nov 08, 2017 (151)
87 ILLUMINA ss2635093076 Nov 08, 2017 (151)
88 GRF ss2703328951 Nov 08, 2017 (151)
89 GNOMAD ss2732807860 Nov 08, 2017 (151)
90 GNOMAD ss2746722924 Nov 08, 2017 (151)
91 GNOMAD ss2776425113 Nov 08, 2017 (151)
92 AFFY ss2985178988 Nov 08, 2017 (151)
93 AFFY ss2985801557 Nov 08, 2017 (151)
94 SWEGEN ss2989919232 Nov 08, 2017 (151)
95 ILLUMINA ss3021993016 Nov 08, 2017 (151)
96 EVA_SAMSUNG_MC ss3023058237 Nov 08, 2017 (151)
97 BIOINF_KMB_FNS_UNIBA ss3024115589 Nov 08, 2017 (151)
98 TOPMED ss3314763104 Nov 08, 2017 (151)
99 CSHL ss3344344254 Nov 08, 2017 (151)
100 ILLUMINA ss3628116847 Oct 11, 2018 (152)
101 ILLUMINA ss3628116848 Oct 11, 2018 (152)
102 ILLUMINA ss3631610628 Oct 11, 2018 (152)
103 ILLUMINA ss3633208846 Oct 11, 2018 (152)
104 ILLUMINA ss3633920903 Oct 11, 2018 (152)
105 ILLUMINA ss3634777519 Oct 11, 2018 (152)
106 ILLUMINA ss3634777520 Oct 11, 2018 (152)
107 ILLUMINA ss3635606972 Oct 11, 2018 (152)
108 ILLUMINA ss3636464799 Oct 11, 2018 (152)
109 ILLUMINA ss3637358873 Oct 11, 2018 (152)
110 ILLUMINA ss3638274025 Oct 11, 2018 (152)
111 ILLUMINA ss3639142067 Oct 11, 2018 (152)
112 ILLUMINA ss3639583259 Oct 11, 2018 (152)
113 ILLUMINA ss3640484821 Oct 11, 2018 (152)
114 ILLUMINA ss3640484822 Oct 11, 2018 (152)
115 ILLUMINA ss3641109705 Oct 11, 2018 (152)
116 ILLUMINA ss3641405589 Oct 11, 2018 (152)
117 ILLUMINA ss3643242869 Oct 11, 2018 (152)
118 ILLUMINA ss3644749138 Oct 11, 2018 (152)
119 OMUKHERJEE_ADBS ss3646263902 Oct 11, 2018 (152)
120 URBANLAB ss3647084806 Oct 11, 2018 (152)
121 ILLUMINA ss3652428615 Oct 11, 2018 (152)
122 ILLUMINA ss3653945485 Oct 11, 2018 (152)
123 EGCUT_WGS ss3657890259 Jul 13, 2019 (153)
124 EVA_DECODE ss3704382638 Jul 13, 2019 (153)
125 ILLUMINA ss3725805035 Jul 13, 2019 (153)
126 ACPOP ss3728647793 Jul 13, 2019 (153)
127 ILLUMINA ss3744477635 Jul 13, 2019 (153)
128 ILLUMINA ss3745077417 Jul 13, 2019 (153)
129 ILLUMINA ss3745077418 Jul 13, 2019 (153)
130 EVA ss3757065472 Jul 13, 2019 (153)
131 PAGE_CC ss3770935039 Jul 13, 2019 (153)
132 ILLUMINA ss3772574163 Jul 13, 2019 (153)
133 ILLUMINA ss3772574164 Jul 13, 2019 (153)
134 KHV_HUMAN_GENOMES ss3801437039 Jul 13, 2019 (153)
135 1000Genomes NC_000002.11 - 88424066 Oct 11, 2018 (152)
136 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 88424066 Oct 11, 2018 (152)
137 Genetic variation in the Estonian population NC_000002.11 - 88424066 Oct 11, 2018 (152)
138 ExAC NC_000002.11 - 88424066 Oct 11, 2018 (152)
139 gnomAD - Genomes NC_000002.11 - 88424066 Jul 13, 2019 (153)
140 gnomAD - Exomes NC_000002.11 - 88424066 Jul 13, 2019 (153)
141 GO Exome Sequencing Project NC_000002.11 - 88424066 Oct 11, 2018 (152)
142 Northern Sweden NC_000002.11 - 88424066 Jul 13, 2019 (153)
143 The PAGE Study NC_000002.12 - 88124547 Jul 13, 2019 (153)
144 TopMed NC_000002.12 - 88124547 Oct 11, 2018 (152)
145 UK 10K study - Twins NC_000002.11 - 88424066 Oct 11, 2018 (152)
146 A Vietnamese Genetic Variation Database NC_000002.11 - 88424066 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)
rs59305633 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss3639142067, ss3639583259 NC_000002.9:88263327:T:C NC_000002.12:88124546:T:C (self)
ss91247879, ss166887135, ss200748415, ss276563404, ss284386575, ss292311815, ss480481056, ss491786849, ss825453295, ss1397299270, ss1586517235, ss1712473910, ss2635093076, ss3643242869 NC_000002.10:88205180:T:C NC_000002.12:88124546:T:C (self)
9238743, 5129360, 3628507, 6275947, 25221921, 1861774, 246788, 1932658, 5129360, 1114641, ss219381376, ss231266237, ss238798554, ss342069003, ss480495416, ss481295909, ss485038018, ss489824321, ss491321551, ss537060570, ss555724632, ss649321278, ss778487215, ss780782863, ss782965248, ss783463233, ss783927096, ss832221517, ss832883470, ss833943167, ss974442990, ss977095780, ss1067439067, ss1069313970, ss1298258123, ss1428653801, ss1578983305, ss1584019722, ss1604048269, ss1647042302, ss1686398315, ss1710969994, ss1752373518, ss1752373519, ss1797105688, ss1917751502, ss1920333036, ss1946046389, ss1958437965, ss1968829258, ss2020700153, ss2148744656, ss2398400423, ss2624857784, ss2633645446, ss2703328951, ss2732807860, ss2746722924, ss2776425113, ss2985178988, ss2985801557, ss2989919232, ss3021993016, ss3023058237, ss3344344254, ss3628116847, ss3628116848, ss3631610628, ss3633208846, ss3633920903, ss3634777519, ss3634777520, ss3635606972, ss3636464799, ss3637358873, ss3638274025, ss3640484821, ss3640484822, ss3641109705, ss3641405589, ss3644749138, ss3646263902, ss3652428615, ss3653945485, ss3657890259, ss3728647793, ss3744477635, ss3745077417, ss3745077418, ss3757065472, ss3772574163, ss3772574164 NC_000002.11:88424065:T:C NC_000002.12:88124546:T:C (self)
156508, 198726794, ss2232381713, ss3024115589, ss3314763104, ss3647084806, ss3704382638, ss3725805035, ss3770935039, ss3801437039 NC_000002.12:88124546:T:C NC_000002.12:88124546:T:C (self)
ss76895520 NT_022184.14:67167609:T:C NC_000002.12:88124546:T:C (self)
ss3197965, ss24160905, ss48430047, ss65726333, ss66162987, ss66580731, ss67237002, ss67633247, ss68821923, ss70715329, ss71283157, ss74917991, ss76207793, ss79122777, ss84006240, ss97057729, ss121963338, ss135788081, ss138484002, ss153892436, ss159371648, ss159702354, ss160520394, ss171116590, ss172814683, ss173208084, ss244288465 NT_022184.15:67245952:T:C NC_000002.12:88124546: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.

8 citations for rs2241883
PMID Title Author Year Journal
18506375 Association of genetic variants with atherothrombotic cerebral infarction in Japanese individuals with metabolic syndrome. Yamada Y et al. 2008 International journal of molecular medicine
22396741 Common variants of the liver fatty acid binding protein gene influence the risk of type 2 diabetes and insulin resistance in Spanish population. Mansego ML et al. 2012 PloS one
22465531 Two genetic variants in FABP1 and susceptibility to non-alcohol fatty liver disease in a Chinese population. Peng XE et al. 2012 Gene
23028602 Lactase persistence and lipid pathway selection in the Maasai. Wagh K et al. 2012 PloS one
23874820 Evaluation of 41 candidate gene variants for obesity in the EPIC-Potsdam cohort by multi-locus stepwise regression. Kn├╝ppel S et al. 2013 PloS one
25788903 Network-based analysis of the sphingolipid metabolism in hypertension. Fenger M et al. 2015 Frontiers in genetics
26650609 Association of single-nucleotide polymorphisms rs2197076 and rs2241883 of FABP1 gene with polycystic ovary syndrome. Xue H et al. 2016 Journal of assisted reproduction and genetics
30519332 <i>FABP1</i> Polymorphisms Contribute to Hepatocellular Carcinoma Susceptibility in Chinese Population with Liver Cirrhosis: A Case-Control Study. Wang M et al. 2018 Journal of Cancer

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