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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 HGVS 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.


Current Build 154

Released April 21, 2020

Homo sapiens
chr2:118078449 (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.

C>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
C=0.297990 (37418/125568, TOPMED)
C=0.27379 (21537/78662, PAGE_STUDY)
C=0.29819 (9346/31342, GnomAD) (+ 14 more)
C=0.2859 (1432/5008, 1000G)
C=0.2893 (1296/4480, Estonian)
C=0.3319 (1279/3854, ALSPAC)
C=0.3091 (1146/3708, TWINSUK)
C=0.3067 (671/2188, ALFA Project)
C=0.2936 (552/1880, HapMap)
C=0.304 (303/998, GoNL)
C=0.392 (235/600, NorthernSweden)
C=0.194 (97/500, SGDP_PRJ)
C=0.343 (74/216, Qatari)
C=0.403 (87/216, Vietnamese)
C=0.19 (10/54, Siberian)
C=0.33 (13/40, GENOME_DK)
C=0.4 (3/8, KOREAN)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LOC107985940 : Intron Variant
85 citations
Genomic View
See rs on genome

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.118078449C>A
GRCh38.p12 chr 2 NC_000002.12:g.118078449C>G
GRCh38.p12 chr 2 NC_000002.12:g.118078449C>T
GRCh37.p13 chr 2 NC_000002.11:g.118836025C>A
GRCh37.p13 chr 2 NC_000002.11:g.118836025C>G
GRCh37.p13 chr 2 NC_000002.11:g.118836025C>T
Gene: LOC107985940, uncharacterized LOC107985940 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC107985940 transcript XR_001739662.2:n. N/A Intron Variant

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

ALFA Allele Frequency (New)
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20200227123210
Population Group Sample Size Ref Allele Alt Allele
Total Global 2188 C=0.3067 G=0.6933
European Sub 2072 C=0.3127 G=0.6873
African Sub 82 C=0.21 G=0.79
African Others Sub 6 C=0.2 G=0.8
African American Sub 76 C=0.21 G=0.79
Asian Sub 4 C=0.2 G=0.8
East Asian Sub 2 C=0.0 G=1.0
Other Asian Sub 2 C=0.5 G=0.5
Latin American 1 Sub 0 C=0 G=0
Latin American 2 Sub 0 C=0 G=0
South Asian Sub 4 C=0.0 G=1.0
Other Sub 26 C=0.19 G=0.81


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").

Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 125568 C=0.297990 G=0.702010
The PAGE Study Global Study-wide 78662 C=0.27379 G=0.72621
The PAGE Study AfricanAmerican Sub 32494 C=0.24580 G=0.75420
The PAGE Study Mexican Sub 10810 C=0.27484 G=0.72516
The PAGE Study Asian Sub 8312 C=0.3300 G=0.6700
The PAGE Study PuertoRican Sub 7912 C=0.2850 G=0.7150
The PAGE Study NativeHawaiian Sub 4534 C=0.3013 G=0.6987
The PAGE Study Cuban Sub 4226 C=0.3024 G=0.6976
The PAGE Study Dominican Sub 3826 C=0.2731 G=0.7269
The PAGE Study CentralAmerican Sub 2450 C=0.2865 G=0.7135
The PAGE Study SouthAmerican Sub 1982 C=0.2957 G=0.7043
The PAGE Study NativeAmerican Sub 1260 C=0.2841 G=0.7159
The PAGE Study SouthAsian Sub 856 C=0.287 G=0.713
gnomAD - Genomes Global Study-wide 31342 C=0.29819 G=0.70181
gnomAD - Genomes European Sub 18884 C=0.31651 G=0.68349
gnomAD - Genomes African Sub 8682 C=0.2448 G=0.7552
gnomAD - Genomes East Asian Sub 1552 C=0.3763 G=0.6237
gnomAD - Genomes Other Sub 1086 C=0.3002 G=0.6998
gnomAD - Genomes American Sub 848 C=0.259 G=0.741
gnomAD - Genomes Ashkenazi Jewish Sub 290 C=0.393 G=0.607
1000Genomes Global Study-wide 5008 C=0.2859 G=0.7141
1000Genomes African Sub 1322 C=0.2042 G=0.7958
1000Genomes East Asian Sub 1008 C=0.3532 G=0.6468
1000Genomes Europe Sub 1006 C=0.3091 G=0.6909
1000Genomes South Asian Sub 978 C=0.293 G=0.707
1000Genomes American Sub 694 C=0.300 G=0.700
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.2893 G=0.7107
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.3319 G=0.6681
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.3091 G=0.6909
ALFA Total Global 2188 C=0.3067 G=0.6933
ALFA European Sub 2072 C=0.3127 G=0.6873
ALFA African Sub 82 C=0.21 G=0.79
ALFA Other Sub 26 C=0.19 G=0.81
ALFA South Asian Sub 4 C=0.0 G=1.0
ALFA Asian Sub 4 C=0.2 G=0.8
ALFA Latin American 1 Sub 0 C=0 G=0
ALFA Latin American 2 Sub 0 C=0 G=0
HapMap Global Study-wide 1880 C=0.2936 G=0.7064
HapMap American Sub 766 C=0.302 G=0.698
HapMap African Sub 688 C=0.240 G=0.760
HapMap Asian Sub 252 C=0.373 G=0.627
HapMap Europe Sub 174 C=0.356 G=0.644
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.304 G=0.696
Northern Sweden ACPOP Study-wide 600 C=0.392 G=0.608
SGDP_PRJ Global Study-wide 500 C=0.194 G=0.806
Qatari Global Study-wide 216 C=0.343 G=0.657
A Vietnamese Genetic Variation Database Global Study-wide 216 C=0.403 G=0.597
Siberian Global Study-wide 54 C=0.19 G=0.81
The Danish reference pan genome Danish Study-wide 40 C=0.33 G=0.68
KOREAN population from KRGDB KOREAN Study-wide 8 C=0.4 A=0.0, G=0.6, T=0.0

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= A G T
GRCh38.p12 chr 2 NC_000002.12:g.118078449= NC_000002.12:g.118078449C>A NC_000002.12:g.118078449C>G NC_000002.12:g.118078449C>T
GRCh37.p13 chr 2 NC_000002.11:g.118836025= NC_000002.11:g.118836025C>A NC_000002.11:g.118836025C>G NC_000002.11:g.118836025C>T

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#.

101 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss11450462 Jul 11, 2003 (116)
2 PERLEGEN ss14877947 Dec 05, 2003 (119)
3 SSAHASNP ss21633044 Apr 05, 2004 (121)
4 PERLEGEN ss23938610 Sep 20, 2004 (123)
5 ABI ss44147645 Mar 14, 2006 (126)
6 AFFY ss66003987 Nov 30, 2006 (127)
7 AFFY ss66096985 Nov 30, 2006 (127)
8 CSHL-HAPMAP ss68382656 Jan 12, 2007 (127)
9 PERLEGEN ss68825460 May 17, 2007 (127)
10 AFFY ss76058863 Dec 07, 2007 (129)
11 HGSV ss77256321 Dec 07, 2007 (129)
12 KRIBB_YJKIM ss82448141 Dec 16, 2007 (130)
13 BCMHGSC_JDW ss91312313 Mar 24, 2008 (129)
14 HUMANGENOME_JCVI ss96420541 Feb 06, 2009 (130)
15 BGI ss103568528 Dec 01, 2009 (131)
16 1000GENOMES ss109815326 Jan 24, 2009 (130)
17 1000GENOMES ss110802201 Jan 25, 2009 (130)
18 ILLUMINA-UK ss117842972 Feb 14, 2009 (130)
19 ENSEMBL ss136181294 Dec 01, 2009 (131)
20 ENSEMBL ss138513693 Dec 01, 2009 (131)
21 GMI ss157558567 Dec 01, 2009 (131)
22 ILLUMINA ss160889402 Dec 01, 2009 (131)
23 COMPLETE_GENOMICS ss164028542 Jul 04, 2010 (132)
24 AFFY ss172354003 Jul 04, 2010 (132)
25 PAGE_STUDY ss181835976 Jul 04, 2010 (132)
26 BUSHMAN ss200935774 Jul 04, 2010 (132)
27 BCM-HGSC-SUB ss205768034 Jul 04, 2010 (132)
28 1000GENOMES ss219458918 Jul 14, 2010 (132)
29 1000GENOMES ss231325144 Jul 14, 2010 (132)
30 1000GENOMES ss238842358 Jul 15, 2010 (132)
31 BL ss253402808 May 09, 2011 (134)
32 GMI ss276638823 May 04, 2012 (137)
33 GMI ss284419979 Apr 25, 2013 (138)
34 PJP ss292349495 May 09, 2011 (134)
35 ILLUMINA ss481597732 May 04, 2012 (137)
36 ILLUMINA ss481627699 May 04, 2012 (137)
37 ILLUMINA ss482597031 Sep 08, 2015 (146)
38 ILLUMINA ss485593789 May 04, 2012 (137)
39 ILLUMINA ss537483611 Sep 08, 2015 (146)
40 TISHKOFF ss555816332 Apr 25, 2013 (138)
41 SSMP ss649438113 Apr 25, 2013 (138)
42 ILLUMINA ss778718875 Aug 21, 2014 (142)
43 ILLUMINA ss783242481 Aug 21, 2014 (142)
44 ILLUMINA ss784196270 Aug 21, 2014 (142)
45 ILLUMINA ss832503077 Apr 01, 2015 (144)
46 ILLUMINA ss834178248 Aug 21, 2014 (142)
47 EVA-GONL ss977263052 Aug 21, 2014 (142)
48 JMKIDD_LAB ss1069423480 Aug 21, 2014 (142)
49 1000GENOMES ss1298945579 Aug 21, 2014 (142)
50 DDI ss1428706925 Apr 01, 2015 (144)
51 EVA_GENOME_DK ss1579048147 Apr 01, 2015 (144)
52 EVA_DECODE ss1586687539 Apr 01, 2015 (144)
53 EVA_UK10K_ALSPAC ss1604375367 Apr 01, 2015 (144)
54 EVA_UK10K_TWINSUK ss1647369400 Apr 01, 2015 (144)
55 EVA_SVP ss1712483971 Apr 01, 2015 (144)
56 ILLUMINA ss1752307089 Sep 08, 2015 (146)
57 HAMMER_LAB ss1797358953 Sep 08, 2015 (146)
58 WEILL_CORNELL_DGM ss1920513339 Feb 12, 2016 (147)
59 ILLUMINA ss1958451506 Feb 12, 2016 (147)
60 GENOMED ss1968865360 Jul 19, 2016 (147)
61 JJLAB ss2020784313 Sep 14, 2016 (149)
62 USC_VALOUEV ss2148840236 Dec 20, 2016 (150)
63 HUMAN_LONGEVITY ss2233587097 Dec 20, 2016 (150)
64 TOPMED ss2399843946 Dec 20, 2016 (150)
65 SYSTEMSBIOZJU ss2624897790 Nov 08, 2017 (151)
66 ILLUMINA ss2633662400 Nov 08, 2017 (151)
67 GRF ss2703452812 Nov 08, 2017 (151)
68 GNOMAD ss2778571479 Nov 08, 2017 (151)
69 SWEGEN ss2990261397 Nov 08, 2017 (151)
70 ILLUMINA ss3022008176 Nov 08, 2017 (151)
71 BIOINF_KMB_FNS_UNIBA ss3024154046 Nov 08, 2017 (151)
72 TOPMED ss3320511319 Nov 08, 2017 (151)
73 CSHL ss3344430024 Nov 08, 2017 (151)
74 ILLUMINA ss3628147996 Oct 11, 2018 (152)
75 ILLUMINA ss3631626573 Oct 11, 2018 (152)
76 ILLUMINA ss3633213546 Oct 11, 2018 (152)
77 ILLUMINA ss3633925825 Oct 11, 2018 (152)
78 ILLUMINA ss3634783954 Oct 11, 2018 (152)
79 ILLUMINA ss3635611776 Oct 11, 2018 (152)
80 ILLUMINA ss3636472313 Oct 11, 2018 (152)
81 ILLUMINA ss3637363707 Oct 11, 2018 (152)
82 ILLUMINA ss3640491255 Oct 11, 2018 (152)
83 URBANLAB ss3647122972 Oct 11, 2018 (152)
84 ILLUMINA ss3652448232 Oct 11, 2018 (152)
85 EGCUT_WGS ss3658134347 Jul 13, 2019 (153)
86 EVA_DECODE ss3704713686 Jul 13, 2019 (153)
87 ILLUMINA ss3725817023 Jul 13, 2019 (153)
88 ACPOP ss3728788498 Jul 13, 2019 (153)
89 ILLUMINA ss3745083825 Jul 13, 2019 (153)
90 EVA ss3757266421 Jul 13, 2019 (153)
91 PAGE_CC ss3770943730 Jul 13, 2019 (153)
92 ILLUMINA ss3772580540 Jul 13, 2019 (153)
93 PACBIO ss3783970500 Jul 13, 2019 (153)
94 PACBIO ss3789538088 Jul 13, 2019 (153)
95 PACBIO ss3794410913 Jul 13, 2019 (153)
96 KHV_HUMAN_GENOMES ss3801633968 Jul 13, 2019 (153)
97 EVA ss3827174781 Apr 25, 2020 (154)
98 EVA ss3837002049 Apr 25, 2020 (154)
99 EVA ss3842420633 Apr 25, 2020 (154)
100 SGDP_PRJ ss3853203739 Apr 25, 2020 (154)
101 KRGDB ss3898735879 Apr 25, 2020 (154)
102 1000Genomes NC_000002.11 - 118836025 Oct 11, 2018 (152)
103 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 118836025 Oct 11, 2018 (152)
104 Genetic variation in the Estonian population NC_000002.11 - 118836025 Oct 11, 2018 (152)
105 The Danish reference pan genome NC_000002.11 - 118836025 Apr 25, 2020 (154)
106 gnomAD - Genomes NC_000002.11 - 118836025 Jul 13, 2019 (153)
107 Genome of the Netherlands Release 5 NC_000002.11 - 118836025 Apr 25, 2020 (154)
108 HapMap NC_000002.12 - 118078449 Apr 25, 2020 (154)
109 KOREAN population from KRGDB NC_000002.11 - 118836025 Apr 25, 2020 (154)
110 Northern Sweden NC_000002.11 - 118836025 Jul 13, 2019 (153)
111 The PAGE Study NC_000002.12 - 118078449 Jul 13, 2019 (153)
112 Qatari NC_000002.11 - 118836025 Apr 25, 2020 (154)
113 SGDP_PRJ NC_000002.11 - 118836025 Apr 25, 2020 (154)
114 Siberian NC_000002.11 - 118836025 Apr 25, 2020 (154)
115 TopMed NC_000002.12 - 118078449 Oct 11, 2018 (152)
116 UK 10K study - Twins NC_000002.11 - 118836025 Oct 11, 2018 (152)
117 A Vietnamese Genetic Variation Database NC_000002.11 - 118836025 Jul 13, 2019 (153)
118 dbGaP Population Frequency Project NC_000002.12 - 118078449 Apr 25, 2020 (154)

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)
rs61203538 Feb 27, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
5913273, ss3898735879 NC_000002.11:118836024:C:A NC_000002.12:118078448:C:A
ss77256321 NC_000002.9:118552254:C:G NC_000002.12:118078448:C:G (self)
ss66096985, ss76058863, ss91312313, ss109815326, ss110802201, ss117842972, ss160889402, ss164028542, ss172354003, ss200935774, ss205768034, ss253402808, ss276638823, ss284419979, ss292349495, ss481597732, ss1586687539, ss1712483971 NC_000002.10:118552494:C:G NC_000002.12:118078448:C:G (self)
9948821, 5489377, 3872595, 5214070, 27194222, 2413103, 5913273, 2073363, 2555269, 5220719, 1356590, 5489377, 1189302, ss219458918, ss231325144, ss238842358, ss481627699, ss482597031, ss485593789, ss537483611, ss555816332, ss649438113, ss778718875, ss783242481, ss784196270, ss832503077, ss834178248, ss977263052, ss1069423480, ss1298945579, ss1428706925, ss1579048147, ss1604375367, ss1647369400, ss1752307089, ss1797358953, ss1920513339, ss1958451506, ss1968865360, ss2020784313, ss2148840236, ss2399843946, ss2624897790, ss2633662400, ss2703452812, ss2778571479, ss2990261397, ss3022008176, ss3344430024, ss3628147996, ss3631626573, ss3633213546, ss3633925825, ss3634783954, ss3635611776, ss3636472313, ss3637363707, ss3640491255, ss3652448232, ss3658134347, ss3728788498, ss3745083825, ss3757266421, ss3772580540, ss3783970500, ss3789538088, ss3794410913, ss3827174781, ss3837002049, ss3853203739, ss3898735879 NC_000002.11:118836024:C:G NC_000002.12:118078448:C:G (self)
1876074, 165199, 202483342, 555900139, ss2233587097, ss3024154046, ss3320511319, ss3647122972, ss3704713686, ss3725817023, ss3770943730, ss3801633968, ss3842420633 NC_000002.12:118078448:C:G NC_000002.12:118078448:C:G (self)
ss11450462, ss21633044 NT_022135.13:7543766:C:G NC_000002.12:118078448:C:G (self)
ss14877947, ss23938610, ss44147645, ss66003987, ss68382656, ss68825460, ss82448141, ss96420541, ss103568528, ss136181294, ss138513693, ss157558567, ss181835976 NT_022135.16:8584687:C:G NC_000002.12:118078448:C:G (self)
5913273, ss3898735879 NC_000002.11:118836024:C:T NC_000002.12:118078448:C:T

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

85 citations for rs7566605
PMID Title Author Year Journal
17024366 Lack of association between rs7566605 and obesity in a Chinese population. Feng Y et al. 2007 Human genetics
17137505 INSIG-2 promoter polymorphism and obesity related phenotypes: association study in 1428 members of 248 families. Hall DH et al. 2006 BMC medical genetics
17218508 Comment on "A common genetic variant is associated with adult and childhood obesity". Dina C et al. 2007 Science (New York, N.Y.)
17218509 Comment on "A common genetic variant is associated with adult and childhood obesity". Loos RJ et al. 2007 Science (New York, N.Y.)
17218510 Comment on "A common genetic variant is associated with adult and childhood obesity". Rosskopf D et al. 2007 Science (New York, N.Y.)
17389899 Is rs7566605, a SNP near INSIG2, associated with body mass in a randomized clinical trial of antipsychotics in schizophrenia? Skelly T et al. 2007 Molecular psychiatry
17465681 The association of a SNP upstream of INSIG2 with body mass index is reproduced in several but not all cohorts. Lyon HN et al. 2007 PLoS genetics
17471297 INSIG2 gene polymorphism is not associated with obesity in Caucasian, Afro-Caribbean and Indian subjects. Smith AJ et al. 2007 International journal of obesity (2005)
17489846 The common genetic variant upstream of INSIG2 gene is not associated with obesity in Indian population. Kumar J et al. 2007 Clinical genetics
17903300 Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. Fox CS et al. 2007 BMC medical genetics
18003761 Evidence of an influence of a polymorphism near the INSIG2 on weight loss during a lifestyle intervention in obese children and adolescents. Reinehr T et al. 2008 Diabetes
18070740 No association between rs7566605 variant and being overweight in Japanese. Kuzuya M et al. 2007 Obesity (Silver Spring, Md.)
18096054 Association between the -455T>C promoter polymorphism of the APOC3 gene and the metabolic syndrome in a multi-ethnic sample. Pollex RL et al. 2007 BMC medical genetics
18162505 Identification and replication of a novel obesity locus on chromosome 1q24 in isolated populations of Cilento. Ciullo M et al. 2008 Diabetes
18223638 No association between INSIG2 Gene rs7566605 polymorphism and being overweight in Japanese population. Tabara Y et al. 2008 Obesity (Silver Spring, Md.)
18239574 INSIG2 polymorphism is neither associated with BMI nor with phenotypes of lipoprotein metabolism. Boes E et al. 2008 Obesity (Silver Spring, Md.)
18270535 Potential association of INSIG2 rs7566605 polymorphism with body weight in a Chinese subpopulation. Yang L et al. 2008 European journal of human genetics
18304332 No evidence for association between BMI and 10 candidate genes at ages 4, 7 and 10 in a large UK sample of twins. Haworth CM et al. 2008 BMC medical genetics
18325910 Genome-wide association scans identified CTNNBL1 as a novel gene for obesity. Liu YJ et al. 2008 Human molecular genetics
18387595 On the replication of genetic associations: timing can be everything! Lasky-Su J et al. 2008 American journal of human genetics
18426866 Association of FTO with obesity-related traits in the Cebu Longitudinal Health and Nutrition Survey (CLHNS) Cohort. Marvelle AF et al. 2008 Diabetes
18514965 A common polymorphism is associated with body mass index in Uyghur population. Zhang J et al. 2008 Diabetes research and clinical practice
18570692 The single nucleotide polymorphism upstream of insulin-induced gene 2 ( INSIG2) is associated with the prevalence of hypercholesterolaemia, but not with obesity, in Japanese American women. Oki K et al. 2009 The British journal of nutrition
18615239 INSIG2 gene rs7566605 polymorphism is associated with severe obesity in Japanese. Hotta K et al. 2008 Journal of human genetics
18682847 Non-replication of genome-wide based associations between common variants in INSIG2 and PFKP and obesity in studies of 18,014 Danes. Andreasen CH et al. 2008 PloS one
18839134 Assessing gene-treatment interactions at the FTO and INSIG2 loci on obesity-related traits in the Diabetes Prevention Program. Franks PW et al. 2008 Diabetologia
19079261 Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Willer CJ et al. 2009 Nature genetics
19105843 INSIG2 gene polymorphism is associated with increased subcutaneous fat in women and poor response to resistance training in men. Orkunoglu-Suer FE et al. 2008 BMC medical genetics
19107338 Association of a genetic polymorphism in ectonucleotide pyrophosphatase/phosphodiesterase 1 with hepatitis C virus infection and hepatitis C virus core antigen levels in subjects in a hyperendemic area of Japan. Takahama Y et al. 2008 Journal of gastroenterology
19197259 Lack of association between a common polymorphism near the INSIG2 gene and BMI, myocardial infarction, and cardiovascular risk factors. Wiedmann S et al. 2009 Obesity (Silver Spring, Md.)
19197262 Absence of association between the INSIG2 gene polymorphism (rs7566605) and obesity in the European Youth Heart Study (EYHS). Vimaleswaran KS et al. 2009 Obesity (Silver Spring, Md.)
19224890 Aggravating effect of INSIG2 and FTO on overweight reduction in a one-year lifestyle intervention. Reinehr T et al. 2009 Archives of disease in childhood
19245693 Studies of CTNNBL1 and FDFT1 variants and measures of obesity: analyses of quantitative traits and case-control studies in 18,014 Danes. Andreasen CH et al. 2009 BMC medical genetics
19263810 Association of the common genetic variant upstream of INSIG2 gene with obesity related phenotypes in Chinese children and adolescents. Wang HJ et al. 2008 Biomedical and environmental sciences
19360016 INSIG2 SNPs associated with obesity and glucose homeostasis traits in Hispanics: the IRAS Family Study. Talbert ME et al. 2009 Obesity (Silver Spring, Md.)
19399648 Possible role for ENPP1 polymorphism in obesity but not for INSIG2 and PLIN variants. Peeters A et al. 2009 Endocrine
19478790 The role of obesity-associated loci identified in genome-wide association studies in the determination of pediatric BMI. Zhao J et al. 2009 Obesity (Silver Spring, Md.)
19523229 The INSIG2 rs7566605 genetic variant does not play a major role in obesity in a sample of 24,722 individuals from four cohorts. Bressler J et al. 2009 BMC medical genetics
19593725 Association of maternally inherited GNAS alleles with African-American male birth weight. Adkins RM et al. 2010 International journal of pediatric obesity
19736300 Genetic basis of inter-individual variability in the effects of exercise on the alleviation of lifestyle-related diseases. Mori M et al. 2009 The Journal of physiology
19772594 Association analyses of the INSIG2 polymorphism in the obesity and cholesterol levels of Korean populations. Cha S et al. 2009 BMC medical genetics
19851442 Meta-analysis of the INSIG2 association with obesity including 74,345 individuals: does heterogeneity of estimates relate to study design? Heid IM et al. 2009 PLoS genetics
19965593 INSIG1 influences obesity-related hypertriglyceridemia in humans. Smith EM et al. 2010 Journal of lipid research
20028541 A tagging SNP in INSIG2 is associated with obesity-related phenotypes among Samoans. Deka R et al. 2009 BMC medical genetics
20045156 Common INSIG2 polymorphisms are associated with age-related changes in body size and high-density lipoprotein cholesterol from young adulthood to middle age. Fornage M et al. 2010 Metabolism
20092643 Large effects on body mass index and insulin resistance of fat mass and obesity associated gene (FTO) variants in patients with polycystic ovary syndrome (PCOS). Tan S et al. 2010 BMC medical genetics
20127379 From monogenic to polygenic obesity: recent advances. Hinney A et al. 2010 European child & adolescent psychiatry
20354568 INSIG2 is Associated with Lower Gain in Weight-for-Length Between Birth and Age 6 Months. Wu AC et al. 2009 Clinical medicine. Pediatrics
20373477 Association study of polymorphisms in insulin induced gene 2 (INSIG2) with antipsychotic-induced weight gain in European and African-American schizophrenia patients. Tiwari AK et al. 2010 Human psychopharmacology
20504252 Association of HTR2C, but not LEP or INSIG2, genes with antipsychotic-induced weight gain in a German sample. Opgen-Rhein C et al. 2010 Pharmacogenomics
20645959 An INSIG2 polymorphism affects glucose homeostasis in Sardinian obese children and adolescents. Zavattari P et al. 2010 Annals of human genetics
20712903 Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study. Morgan AR et al. 2010 BMC medical genetics
20725061 MC4R variant is associated with BMI but not response to resistance training in young females. Orkunoglu-Suer FE et al. 2011 Obesity (Silver Spring, Md.)
20816152 Obesity and diabetes genetic variants associated with gestational weight gain. Stuebe AM et al. 2010 American journal of obstetrics and gynecology
20816195 Analyses of shared genetic factors between asthma and obesity in children. Melén E et al. 2010 The Journal of allergy and clinical immunology
20858904 Fine mapping of the insulin-induced gene 2 identifies a variant associated with LDL cholesterol and total apolipoprotein B levels. Do R et al. 2010 Circulation. Cardiovascular genetics
20955599 The INSIG2 rs7566605 polymorphism is not associated with body mass index and breast cancer risk. Campa D et al. 2010 BMC cancer
20966902 Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. Croteau-Chonka DC et al. 2011 Obesity (Silver Spring, Md.)
21150882 Replication of genetic variants from genome-wide association studies with metabolic traits in an island population of the Adriatic coast of Croatia. Karns R et al. 2011 European journal of human genetics
21233811 Multilocus analyses of seven candidate genes suggest interacting pathways for obesity-related traits in Brazilian populations. Angeli CB et al. 2011 Obesity (Silver Spring, Md.)
21283731 FTO and MC4R gene variants are associated with obesity in polycystic ovary syndrome. Ewens KG et al. 2011 PloS one
21544599 Influence of common variants in FTO and near INSIG2 and MC4R on growth curves for adiposity in African- and European-American youth. Liu G et al. 2011 European journal of epidemiology
22038464 Moderate effects of apple juice consumption on obesity-related markers in obese men: impact of diet-gene interaction on body fat content. Barth SW et al. 2012 European journal of nutrition
22355322 Gene-gene and gene-environmental interactions of childhood asthma: a multifactor dimension reduction approach. Su MW et al. 2012 PloS one
22968099 INSIG2 variants, dietary patterns and metabolic risk in Samoa. Baylin A et al. 2013 European journal of clinical nutrition
22998931 Leisure time activities in adolescence in the presence of susceptibility genes for obesity: risk or resilience against overweight in adulthood? The HUNT study. Cuypers K et al. 2012 BMC public health
23318717 Sex-specific effects of weight-affecting gene variants in a life course perspective--The HUNT Study, Norway. Kvaløy K et al. 2013 International journal of obesity (2005)
23339409 Reduced genetic influence on childhood obesity in small for gestational age children. Han DY et al. 2013 BMC medical genetics
23360386 The genetics of human obesity. Xia Q et al. 2013 Annals of the New York Academy of Sciences
23497168 Omega-3 fatty acids, polymorphisms and lipid related cardiovascular disease risk factors in the Inuit population. Rudkowska I et al. 2013 Nutrition & metabolism
23712987 Genetic risk factors for BMI and obesity in an ethnically diverse population: results from the population architecture using genomics and epidemiology (PAGE) study. Fesinmeyer MD et al. 2013 Obesity (Silver Spring, Md.)
23874820 Evaluation of 41 candidate gene variants for obesity in the EPIC-Potsdam cohort by multi-locus stepwise regression. Knüppel S et al. 2013 PloS one
23941145 Association between intramuscular fat in the arm following arm training and INSIG2. Popadic Gacesa JZ et al. 2014 Scandinavian journal of medicine & science in sports
24458218 Association of INSIG2 rs9308762 with ALT level independent of BMI. Guan L et al. 2014 Journal of pediatric gastroenterology and nutrition
24518831 Controversial association results for INSIG2 on body mass index may be explained by interactions with age and with MC4R. Malzahn D et al. 2014 European journal of human genetics
24959828 Genetic association study with metabolic syndrome and metabolic-related traits in a cross-sectional sample and a 10-year longitudinal sample of chinese elderly population. Yang J et al. 2014 PloS one
25028659 The gene-gene interaction of INSIG-SCAP-SREBP pathway on the risk of obesity in Chinese children. Liu FH et al. 2014 BioMed research international
25607990 Association of INSIG2 polymorphism with overweight and LDL in children. Kaulfers AM et al. 2015 PloS one
27217270 Pharmacogenetic Associations of Antipsychotic Drug-Related Weight Gain: A Systematic Review and Meta-analysis. Zhang JP et al. 2016 Schizophrenia bulletin
27432166 Evaluation of differential effects of metformin treatment in obese children according to pubertal stage and genetic variations: study protocol for a randomized controlled trial. Pastor-Villaescusa B et al. 2016 Trials
28160769 Common Genetic Variant of insig2 Gene rs7566605 Polymorphism Is Associated with Severe Obesity in North India Prakash J et al. 2017 Iranian biomedical journal
28577571 Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review. Paththinige CS et al. 2017 Lipids in health and disease
28738793 Association between 28 single nucleotide polymorphisms and type 2 diabetes mellitus in the Kazakh population: a case-control study. Sikhayeva N et al. 2017 BMC medical genetics
29138870 INSIG2 rs7566605 single nucleotide variant and global DNA methylation index levels are associated with weight loss in a personalized weight reduction program. Pirini F et al. 2018 Molecular medicine reports
31144980 INSIG2 gene polymorphism is associated with higher blood pressure and triglyceride levels in Brazilian obese subjects. Nicoletti CF et al. 2019 Nutricion hospitalaria

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

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.post536+f5d31d6