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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.

rs17782313

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr18:60183864 (GRCh38.p13) 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
C=0.229936 (61037/265452, dbGaP_PopFreq)
C=0.236322 (62552/264690, TOPMED)
C=0.234999 (32922/140094, GnomAD) (+ 20 more)
C=0.241128 (30278/125568, TOPMED)
C=0.21801 (17157/78698, PAGE_STUDY)
C=0.22804 (3822/16760, 3.5KJPNv2)
C=0.2400 (1202/5008, 1000G)
C=0.1877 (841/4480, Estonian)
C=0.2314 (892/3854, ALSPAC)
C=0.2346 (870/3708, TWINSUK)
C=0.2372 (695/2930, KOREAN)
C=0.2537 (479/1888, HapMap)
C=0.3354 (381/1136, Daghestan)
C=0.261 (260/998, GoNL)
C=0.149 (93/626, Chileans)
C=0.257 (154/600, NorthernSweden)
T=0.414 (91/220, SGDP_PRJ)
C=0.296 (64/216, Qatari)
C=0.139 (30/216, Vietnamese)
C=0.22 (10/46, Ancient Sardinia)
C=0.17 (7/40, GENOME_DK)
T=0.33 (8/24, Siberian)
C=0.229936 (61037/265452, ALFA Project)
Clinical Significance
Reported in ClinVar
Gene : Consequence
None
Publications
231 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.p13 chr 18 NC_000018.10:g.60183864T>A
GRCh38.p13 chr 18 NC_000018.10:g.60183864T>C
GRCh37.p13 chr 18 NC_000018.9:g.57851097T>A
GRCh37.p13 chr 18 NC_000018.9:g.57851097T>C
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.

Allele: C (allele ID: 227796 )
ClinVar Accession Disease Names Clinical Significance
RCV000211281.1 antipsychotics response - Toxicity/ADR Drug-Response

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 265452 T=0.770064 C=0.229936
European Sub 232214 T=0.768886 C=0.231114
African Sub 7768 T=0.7186 C=0.2814
African Others Sub 292 T=0.699 C=0.301
African American Sub 7476 T=0.7194 C=0.2806
Asian Sub 6558 T=0.7964 C=0.2036
East Asian Sub 4644 T=0.7823 C=0.2177
Other Asian Sub 1914 T=0.8307 C=0.1693
Latin American 1 Sub 738 T=0.770 C=0.230
Latin American 2 Sub 4448 T=0.8730 C=0.1270
South Asian Sub 316 T=0.604 C=0.396
Other Sub 13410 T=0.77718 C=0.22282


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 264690 T=0.763678 C=0.236322
gnomAD - Genomes Global Study-wide 140094 T=0.765001 C=0.234999
gnomAD - Genomes European Sub 75880 T=0.77292 C=0.22708
gnomAD - Genomes African Sub 41960 T=0.71759 C=0.28241
gnomAD - Genomes American Sub 13644 T=0.84213 C=0.15787
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.8014 C=0.1986
gnomAD - Genomes East Asian Sub 3132 T=0.8247 C=0.1753
gnomAD - Genomes Other Sub 2154 T=0.7781 C=0.2219
TopMed Global Study-wide 125568 T=0.758872 C=0.241128
The PAGE Study Global Study-wide 78698 T=0.78199 C=0.21801
The PAGE Study AfricanAmerican Sub 32514 T=0.72052 C=0.27948
The PAGE Study Mexican Sub 10808 T=0.88758 C=0.11242
The PAGE Study Asian Sub 8318 T=0.7933 C=0.2067
The PAGE Study PuertoRican Sub 7918 T=0.7806 C=0.2194
The PAGE Study NativeHawaiian Sub 4534 T=0.8822 C=0.1178
The PAGE Study Cuban Sub 4230 T=0.7967 C=0.2033
The PAGE Study Dominican Sub 3828 T=0.7508 C=0.2492
The PAGE Study CentralAmerican Sub 2450 T=0.8914 C=0.1086
The PAGE Study SouthAmerican Sub 1982 T=0.8779 C=0.1221
The PAGE Study NativeAmerican Sub 1260 T=0.8135 C=0.1865
The PAGE Study SouthAsian Sub 856 T=0.640 C=0.360
3.5KJPNv2 JAPANESE Study-wide 16760 T=0.77196 C=0.22804
1000Genomes Global Study-wide 5008 T=0.7600 C=0.2400
1000Genomes African Sub 1322 T=0.7224 C=0.2776
1000Genomes East Asian Sub 1008 T=0.8135 C=0.1865
1000Genomes Europe Sub 1006 T=0.7604 C=0.2396
1000Genomes South Asian Sub 978 T=0.680 C=0.320
1000Genomes American Sub 694 T=0.866 C=0.134
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.8123 C=0.1877
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.7686 C=0.2314
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.7654 C=0.2346
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.7628 A=0.0000, C=0.2372
HapMap Global Study-wide 1888 T=0.7463 C=0.2537
HapMap American Sub 768 T=0.755 C=0.245
HapMap African Sub 690 T=0.739 C=0.261
HapMap Asian Sub 254 T=0.760 C=0.240
HapMap Europe Sub 176 T=0.716 C=0.284
Genome-wide autozygosity in Daghestan Global Study-wide 1136 T=0.6646 C=0.3354
Genome-wide autozygosity in Daghestan Daghestan Sub 628 T=0.654 C=0.346
Genome-wide autozygosity in Daghestan Near_East Sub 144 T=0.667 C=0.333
Genome-wide autozygosity in Daghestan Central Asia Sub 122 T=0.680 C=0.320
Genome-wide autozygosity in Daghestan Europe Sub 108 T=0.769 C=0.231
Genome-wide autozygosity in Daghestan South Asian Sub 98 T=0.64 C=0.36
Genome-wide autozygosity in Daghestan Caucasus Sub 36 T=0.53 C=0.47
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.739 C=0.261
Chileans Chilean Study-wide 626 T=0.851 C=0.149
Northern Sweden ACPOP Study-wide 600 T=0.743 C=0.257
SGDP_PRJ Global Study-wide 220 T=0.414 C=0.586
Qatari Global Study-wide 216 T=0.704 C=0.296
A Vietnamese Genetic Variation Database Global Study-wide 216 T=0.861 C=0.139
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 46 T=0.78 C=0.22
The Danish reference pan genome Danish Study-wide 40 T=0.82 C=0.17
Siberian Global Study-wide 24 T=0.33 C=0.67
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
GRCh38.p13 chr 18 NC_000018.10:g.60183864= NC_000018.10:g.60183864T>A NC_000018.10:g.60183864T>C
GRCh37.p13 chr 18 NC_000018.9:g.57851097= NC_000018.9:g.57851097T>A NC_000018.9:g.57851097T>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#.

130 SubSNP, 24 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 PERLEGEN ss24204960 Sep 20, 2004 (123)
2 ABI ss40918833 Mar 13, 2006 (126)
3 AFFY ss66408734 Dec 02, 2006 (127)
4 PERLEGEN ss69216652 May 18, 2007 (127)
5 AFFY ss76164541 Dec 06, 2007 (129)
6 HGSV ss81268508 Dec 15, 2007 (130)
7 KRIBB_YJKIM ss83282297 Dec 15, 2007 (130)
8 HUMANGENOME_JCVI ss96517090 Feb 05, 2009 (130)
9 1000GENOMES ss110657022 Jan 25, 2009 (130)
10 1000GENOMES ss114492360 Jan 25, 2009 (130)
11 ILLUMINA-UK ss117901948 Feb 14, 2009 (130)
12 ENSEMBL ss139743292 Dec 01, 2009 (131)
13 GMI ss155269009 Dec 01, 2009 (131)
14 ILLUMINA ss160457539 Dec 01, 2009 (131)
15 COMPLETE_GENOMICS ss168352549 Jul 04, 2010 (132)
16 COMPLETE_GENOMICS ss171872218 Jul 04, 2010 (132)
17 AFFY ss172685769 Jul 04, 2010 (132)
18 PAGE_STUDY ss181341899 Jul 04, 2010 (132)
19 PAGE_STUDY ss181834320 Jul 04, 2010 (132)
20 PAGE_STUDY ss181835986 Jul 04, 2010 (132)
21 PAGE_STUDY ss182258810 Jul 04, 2010 (132)
22 PAGE_STUDY ss182258840 Jul 04, 2010 (132)
23 BUSHMAN ss203360158 Jul 04, 2010 (132)
24 1000GENOMES ss227908543 Jul 14, 2010 (132)
25 1000GENOMES ss237502590 Jul 15, 2010 (132)
26 1000GENOMES ss243744307 Jul 15, 2010 (132)
27 GMI ss283024457 May 04, 2012 (137)
28 GMI ss287298760 Apr 25, 2013 (138)
29 PJP ss292086289 May 09, 2011 (134)
30 ILLUMINA ss410826104 Sep 17, 2011 (135)
31 ILLUMINA ss480284519 May 04, 2012 (137)
32 ILLUMINA ss480295747 May 04, 2012 (137)
33 ILLUMINA ss481045951 Sep 08, 2015 (146)
34 ILLUMINA ss484940216 May 04, 2012 (137)
35 EXOME_CHIP ss491533993 May 04, 2012 (137)
36 ILLUMINA ss536985694 Sep 08, 2015 (146)
37 TISHKOFF ss565698114 Apr 25, 2013 (138)
38 SSMP ss661533837 Apr 25, 2013 (138)
39 ILLUMINA ss778839842 Sep 08, 2015 (146)
40 ILLUMINA ss780682547 Sep 08, 2015 (146)
41 ILLUMINA ss782916405 Sep 08, 2015 (146)
42 ILLUMINA ss783355900 Sep 08, 2015 (146)
43 ILLUMINA ss783879549 Sep 08, 2015 (146)
44 ILLUMINA ss832171459 Sep 08, 2015 (146)
45 ILLUMINA ss834300380 Sep 08, 2015 (146)
46 EVA-GONL ss993823438 Aug 21, 2014 (142)
47 JMKIDD_LAB ss1081570784 Aug 21, 2014 (142)
48 1000GENOMES ss1361383936 Aug 21, 2014 (142)
49 HAMMER_LAB ss1397748436 Sep 08, 2015 (146)
50 DDI ss1428247445 Apr 01, 2015 (144)
51 EVA_GENOME_DK ss1578442875 Apr 01, 2015 (144)
52 EVA_UK10K_ALSPAC ss1637072142 Apr 01, 2015 (144)
53 EVA_UK10K_TWINSUK ss1680066175 Apr 01, 2015 (144)
54 EVA_DECODE ss1697885263 Apr 01, 2015 (144)
55 EVA_SVP ss1713633186 Apr 01, 2015 (144)
56 ILLUMINA ss1752262154 Sep 08, 2015 (146)
57 ILLUMINA ss1752262155 Sep 08, 2015 (146)
58 HAMMER_LAB ss1809091164 Sep 08, 2015 (146)
59 ILLUMINA ss1917927933 Feb 12, 2016 (147)
60 WEILL_CORNELL_DGM ss1937291195 Feb 12, 2016 (147)
61 ILLUMINA ss1946507519 Feb 12, 2016 (147)
62 ILLUMINA ss1946507522 Feb 12, 2016 (147)
63 ILLUMINA ss1959811180 Feb 12, 2016 (147)
64 ILLUMINA ss1959811181 Feb 12, 2016 (147)
65 GENOMED ss1968545792 Jul 19, 2016 (147)
66 JJLAB ss2029416393 Sep 14, 2016 (149)
67 ILLUMINA ss2094802973 Dec 20, 2016 (150)
68 ILLUMINA ss2095081235 Dec 20, 2016 (150)
69 USC_VALOUEV ss2157923959 Dec 20, 2016 (150)
70 HUMAN_LONGEVITY ss2222317303 Dec 20, 2016 (150)
71 TOPMED ss2387720541 Dec 20, 2016 (150)
72 SYSTEMSBIOZJU ss2629206586 Nov 08, 2017 (151)
73 ILLUMINA ss2633484652 Nov 08, 2017 (151)
74 ILLUMINA ss2633484653 Nov 08, 2017 (151)
75 ILLUMINA ss2633484654 Nov 08, 2017 (151)
76 GRF ss2702516223 Nov 08, 2017 (151)
77 ILLUMINA ss2710870524 Nov 08, 2017 (151)
78 GNOMAD ss2957696220 Nov 08, 2017 (151)
79 AFFY ss2985120210 Nov 08, 2017 (151)
80 AFFY ss2985758784 Nov 08, 2017 (151)
81 SWEGEN ss3016673286 Nov 08, 2017 (151)
82 ILLUMINA ss3021850998 Nov 08, 2017 (151)
83 ILLUMINA ss3021850999 Nov 08, 2017 (151)
84 BIOINF_KMB_FNS_UNIBA ss3028538207 Nov 08, 2017 (151)
85 TOPMED ss3281617294 Nov 08, 2017 (151)
86 CSHL ss3352066184 Nov 08, 2017 (151)
87 ILLUMINA ss3625727185 Oct 12, 2018 (152)
88 ILLUMINA ss3627830157 Oct 12, 2018 (152)
89 ILLUMINA ss3627830158 Oct 12, 2018 (152)
90 ILLUMINA ss3631460734 Oct 12, 2018 (152)
91 ILLUMINA ss3633165841 Oct 12, 2018 (152)
92 ILLUMINA ss3633874754 Oct 12, 2018 (152)
93 ILLUMINA ss3634710047 Oct 12, 2018 (152)
94 ILLUMINA ss3634710048 Oct 12, 2018 (152)
95 ILLUMINA ss3635561975 Oct 12, 2018 (152)
96 ILLUMINA ss3636399933 Oct 12, 2018 (152)
97 ILLUMINA ss3637313600 Oct 12, 2018 (152)
98 ILLUMINA ss3640417355 Oct 12, 2018 (152)
99 ILLUMINA ss3640417356 Oct 12, 2018 (152)
100 ILLUMINA ss3644707898 Oct 12, 2018 (152)
101 ILLUMINA ss3644707899 Oct 12, 2018 (152)
102 URBANLAB ss3650809934 Oct 12, 2018 (152)
103 ILLUMINA ss3652273522 Oct 12, 2018 (152)
104 ILLUMINA ss3652273523 Oct 12, 2018 (152)
105 ILLUMINA ss3653892364 Oct 12, 2018 (152)
106 EGCUT_WGS ss3683520707 Jul 13, 2019 (153)
107 EVA_DECODE ss3701838653 Jul 13, 2019 (153)
108 ILLUMINA ss3725683775 Jul 13, 2019 (153)
109 ACPOP ss3742623196 Jul 13, 2019 (153)
110 ILLUMINA ss3744160114 Jul 13, 2019 (153)
111 ILLUMINA ss3744454825 Jul 13, 2019 (153)
112 ILLUMINA ss3745010177 Jul 13, 2019 (153)
113 ILLUMINA ss3745010178 Jul 13, 2019 (153)
114 EVA ss3755503712 Jul 13, 2019 (153)
115 PAGE_CC ss3771977335 Jul 13, 2019 (153)
116 ILLUMINA ss3772507631 Jul 13, 2019 (153)
117 ILLUMINA ss3772507632 Jul 13, 2019 (153)
118 KHV_HUMAN_GENOMES ss3820758681 Jul 13, 2019 (153)
119 EVA ss3835216175 Apr 27, 2020 (154)
120 EVA ss3841226570 Apr 27, 2020 (154)
121 EVA ss3846729207 Apr 27, 2020 (154)
122 SGDP_PRJ ss3887204957 Apr 27, 2020 (154)
123 KRGDB ss3937097887 Apr 27, 2020 (154)
124 EVA ss3984734321 Apr 26, 2021 (155)
125 EVA ss3984734322 Apr 26, 2021 (155)
126 EVA ss3985832174 Apr 26, 2021 (155)
127 EVA ss4017802946 Apr 26, 2021 (155)
128 TOPMED ss5059859576 Apr 26, 2021 (155)
129 TOMMO_GENOMICS ss5225575114 Apr 26, 2021 (155)
130 EVA ss5237588461 Apr 26, 2021 (155)
131 1000Genomes NC_000018.9 - 57851097 Oct 12, 2018 (152)
132 The Avon Longitudinal Study of Parents and Children NC_000018.9 - 57851097 Oct 12, 2018 (152)
133 Chileans NC_000018.9 - 57851097 Apr 27, 2020 (154)
134 Genome-wide autozygosity in Daghestan NC_000018.8 - 56002077 Apr 27, 2020 (154)
135 Genetic variation in the Estonian population NC_000018.9 - 57851097 Oct 12, 2018 (152)
136 The Danish reference pan genome NC_000018.9 - 57851097 Apr 27, 2020 (154)
137 gnomAD - Genomes NC_000018.10 - 60183864 Apr 26, 2021 (155)
138 Genome of the Netherlands Release 5 NC_000018.9 - 57851097 Apr 27, 2020 (154)
139 HapMap NC_000018.10 - 60183864 Apr 27, 2020 (154)
140 KOREAN population from KRGDB NC_000018.9 - 57851097 Apr 27, 2020 (154)
141 Northern Sweden NC_000018.9 - 57851097 Jul 13, 2019 (153)
142 The PAGE Study NC_000018.10 - 60183864 Jul 13, 2019 (153)
143 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000018.9 - 57851097 Apr 26, 2021 (155)
144 CNV burdens in cranial meningiomas

Submission ignored due to conflicting rows:
Row 283873 (NC_000018.9:57851096:T:C 155/784)
Row 283874 (NC_000018.9:57851096:T:C 155/784)

- Apr 26, 2021 (155)
145 CNV burdens in cranial meningiomas

Submission ignored due to conflicting rows:
Row 283873 (NC_000018.9:57851096:T:C 155/784)
Row 283874 (NC_000018.9:57851096:T:C 155/784)

- Apr 26, 2021 (155)
146 Qatari NC_000018.9 - 57851097 Apr 27, 2020 (154)
147 SGDP_PRJ NC_000018.9 - 57851097 Apr 27, 2020 (154)
148 Siberian NC_000018.9 - 57851097 Apr 27, 2020 (154)
149 3.5KJPNv2 NC_000018.9 - 57851097 Apr 26, 2021 (155)
150 TopMed NC_000018.10 - 60183864 Oct 12, 2018 (152)
151 TopMed NC_000018.10 - 60183864 Apr 26, 2021 (155)
152 UK 10K study - Twins NC_000018.9 - 57851097 Oct 12, 2018 (152)
153 A Vietnamese Genetic Variation Database NC_000018.9 - 57851097 Jul 13, 2019 (153)
154 Allele Frequency Aggregator NC_000018.10 - 60183864 Apr 26, 2021 (155)
155 ClinVar RCV000211281.1 Oct 12, 2018 (152)
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)
rs59090733 May 25, 2008 (130)
rs59781239 Feb 26, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
44275281, ss3937097887 NC_000018.9:57851096:T:A NC_000018.10:60183863:T:A (self)
218099, ss66408734, ss76164541, ss81268508, ss110657022, ss114492360, ss117901948, ss168352549, ss171872218, ss172685769, ss203360158, ss283024457, ss287298760, ss292086289, ss480284519, ss1397748436, ss1697885263, ss1713633186 NC_000018.8:56002076:T:C NC_000018.10:60183863:T:C (self)
74725908, 41415066, 197448, 29258955, 4633350, 18449093, 44275281, 15908061, 1058101, 19333117, 39221937, 10440313, 83544421, 41415066, 9150155, ss227908543, ss237502590, ss243744307, ss480295747, ss481045951, ss484940216, ss491533993, ss536985694, ss565698114, ss661533837, ss778839842, ss780682547, ss782916405, ss783355900, ss783879549, ss832171459, ss834300380, ss993823438, ss1081570784, ss1361383936, ss1428247445, ss1578442875, ss1637072142, ss1680066175, ss1752262154, ss1752262155, ss1809091164, ss1917927933, ss1937291195, ss1946507519, ss1946507522, ss1959811180, ss1959811181, ss1968545792, ss2029416393, ss2094802973, ss2095081235, ss2157923959, ss2387720541, ss2629206586, ss2633484652, ss2633484653, ss2633484654, ss2702516223, ss2710870524, ss2957696220, ss2985120210, ss2985758784, ss3016673286, ss3021850998, ss3021850999, ss3352066184, ss3625727185, ss3627830157, ss3627830158, ss3631460734, ss3633165841, ss3633874754, ss3634710047, ss3634710048, ss3635561975, ss3636399933, ss3637313600, ss3640417355, ss3640417356, ss3644707898, ss3644707899, ss3652273522, ss3652273523, ss3653892364, ss3683520707, ss3742623196, ss3744160114, ss3744454825, ss3745010177, ss3745010178, ss3755503712, ss3772507631, ss3772507632, ss3835216175, ss3841226570, ss3887204957, ss3937097887, ss3984734321, ss3984734322, ss3985832174, ss4017802946, ss5225575114, ss5237588461 NC_000018.9:57851096:T:C NC_000018.10:60183863:T:C (self)
RCV000211281.1, 527122463, 1621028, 1198804, 171821627, 275405239, 3333897950, ss2222317303, ss3028538207, ss3281617294, ss3650809934, ss3701838653, ss3725683775, ss3771977335, ss3820758681, ss3846729207, ss5059859576 NC_000018.10:60183863:T:C NC_000018.10:60183863:T:C (self)
ss24204960, ss40918833, ss69216652, ss83282297, ss96517090, ss139743292, ss155269009, ss160457539, ss181341899, ss181834320, ss181835986, ss182258810, ss182258840, ss410826104 NT_025028.14:5641960:T:C NC_000018.10:60183863: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.

231 citations for rs17782313
PMID Title Author Year Journal
18454148 Common variants near MC4R are associated with fat mass, weight and risk of obesity. Loos RJ et al. 2008 Nature 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
18697794 The common obesity variant near MC4R gene is associated with higher intakes of total energy and dietary fat, weight change and diabetes risk in women. Qi L et al. 2008 Human molecular genetics
19016587 How does body fat influence bone mass in childhood? A Mendelian randomization approach. Timpson NJ et al. 2009 Journal of bone and mineral research
19060910 Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. Sabatti C et al. 2009 Nature genetics
19073769 Variants near MC4R are associated with obesity and influence obesity-related quantitative traits in a population of middle-aged people: studies of 14,940 Danes. Zobel DP et al. 2009 Diabetes
19079261 Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Willer CJ et al. 2009 Nature genetics
19153581 Common genetic variation near MC4R is associated with eating behaviour patterns in European populations. Stutzmann F et al. 2009 International journal of obesity (2005)
19164386 Replication and extension of genome-wide association study results for obesity in 4923 adults from northern Sweden. Renström F et al. 2009 Human molecular genetics
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31354816 Polymorphisms in Adipokines in Mexican Children with Obesity. Jiménez-Osorio AS et al. 2019 International journal of endocrinology
31429705 MC4R variants rs12970134 and rs17782313 are associated with obese polycystic ovary syndrome patients in the Western region of Saudi Arabia. Batarfi AA et al. 2019 BMC medical genetics
31502573 Association of <i>BDNF</i> rs6265 and <i>MC4R</i> rs17782313 with metabolic syndrome in Pakistanis. Rana S et al. 2019 Journal of biosciences
31637671 Presence of CC Genotype for rs17773430 Could Affect the Percentage of Excess Weight Loss 1 Year After Bariatric Surgery: Tehran Obesity Treatment Study (TOTS). Javanrouh N et al. 2020 Obesity surgery
31766143 Candidate Gene and Genome-Wide Association Studies for Circulating Leptin Levels Reveal Population and Sex-Specific Associations in High Cardiovascular Risk Mediterranean Subjects. Ortega-Azorín C et al. 2019 Nutrients
31781208 <i>MC4R</i> Single Nucleotide Polymorphisms Were Associated with Metabolically Healthy and Unhealthy Obesity in Chinese Northern Han Populations. Gao L et al. 2019 International journal of endocrinology
31954858 Association between MC4R rs17782313 genotype and obesity: A meta-analysis. Yu K et al. 2020 Gene
32016782 Dietary patterns interact with the variations of 18q21.23 rs17782313 locus on regulation of hypothalamic-pituitary axis hormones and cardio-metabolic risk factors in obesity. Mohammadi M et al. 2020 Eating and weight disorders
32019489 Dietary quality indices modifies the effects of melanocortin-4 receptor (MC4R) rs17782313 polymorphism on cardio-metabolic risk factors and hypothalamic hormones in obese adults. Khodarahmi M et al. 2020 BMC cardiovascular disorders
32069471 The Association of Parental Genetic, Lifestyle, and Social Determinants of Health with Offspring Overweight. Graham CAM et al. 2020 Lifestyle genomics
32109558 Implication of genetic variants in overweight and obesity susceptibility among the young Arab population of the United Arab Emirates. El Hajj Chehadeh S et al. 2020 Gene
32124410 Variations of 18q21.23 rs17782313 locus and regulation of hypothalamic-pituitary axis hormones and cardio-metabolic risk factors in obesity. Joob B et al. 2021 Eating and weight disorders
32189224 Gene- diet interaction of 18q21.23 rs17782313 locus and dietary patterns in regulation of hypothalamic-pituitary axis hormones and cardio-metabolic risk factors in obesity. Khodarahmi M et al. 2020 Eating and weight disorders
32272684 The Relationship Between Selected CNR1, MC4R, LEP, FTO and VDR Gene Polymorphisms and Several Basic Toxicological Parameters Among Persons Occupationally Exposed to Arsenic, Cadmium and Lead. Matys T et al. 2020 Journal of clinical medicine
32446744 The interaction between dietary patterns and melanocortin-4 receptor polymorphisms in relation to obesity phenotypes. Mousavizadeh Z et al. 2020 Obesity research & clinical practice
32505845 Common polymorphisms in MC4R and FTO genes are associated with BMI and metabolic indicators in Mexican children: Differences by sex and genetic ancestry. López-Rodríguez G et al. 2020 Gene
32547165 Protective Association of Single Nucleotide Polymorphisms rs1861868-FTO and rs7975232-VDR and Obesity in Saudi Females. Al Asoom LI et al. 2020 International journal of general medicine
32558632 The interaction between dietary Non-Enzymatic Antioxidant Capacity (NEAC) with variants of Melanocortin-4 receptor (MC4R) 18q21.23-rs17782313 locus on hypothalamic hormones and cardio-metabolic risk factors in obese individuals from Iran. Mohammadi M et al. 2020 Nutritional neuroscience
32586686 The interaction between the dietary inflammatory index and MC4R gene variants on cardiovascular risk factors. Yarizadeh H et al. 2021 Clinical nutrition (Edinburgh, Scotland)
32671127 Association of Obesity-Related Genetic Variants (FTO and MC4R) with Breast Cancer Risk: A Population-Based Case-Control Study in Iran. Mozafarizadeh M et al. 2019 Iranian journal of biotechnology
32673455 Polymorphisms of leptin-melanocortin system genes associated with obesity in an adult population from Barranquilla Garavito P et al. 2020 Biomedica
32733386 <i>MC4R</i> Variant rs17782313 Associates With Increased Levels of DNAJC27, Ghrelin, and Visfatin and Correlates With Obesity and Hypertension in a Kuwaiti Cohort. Hammad MM et al. 2020 Frontiers in endocrinology
32758123 Melanocortin-4 receptor (MC4R) rs17782313 polymorphism interacts with Dietary Approach to Stop Hypertension (DASH) and Mediterranean Dietary Score (MDS) to affect hypothalamic hormones and cardio-metabolic risk factors among obese individuals. Khodarahmi M et al. 2020 Genes & nutrition
32770936 The MC4R SNPs, their haplotypes and gene-environment interactions on the risk of obesity. Wei BL et al. 2020 Molecular medicine (Cambridge, Mass.)
32807123 Association of MC4R (rs17782313) with diabetes and cardiovascular disease in Korean men and women. Sull JW et al. 2020 BMC medical genetics
32899047 Association between polymorphism near the MC4R gene and cancer risk: A meta-analysis. Zeng T et al. 2020 Medicine
32918257 Association of the MC4R rs17782313 polymorphism with plasma ghrelin, leptin, IL6 and TNFα concentrations, food intake and eating behaviors in morbidly obese women. Magno FCCM et al. 2021 Eating and weight disorders
32952152 Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants. Namjou B et al. 2021 International journal of obesity (2005)
32955223 Seeking genetic determinants of selected metabolic disorders in women aged 45-60. Szkup M et al. 2020 Annals of agricultural and environmental medicine
33284034 The interaction between dietary approaches to stop hypertension and MC4R gene variant in predicting cardiovascular risk factors. Yarizadeh H et al. 2020 International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutrition
33552632 Association between rs1421085 and rs9939609 Polymorphisms of Fat Mass and Obesity-Associated Gene with High-Density Lipoprotein Cholesterol and Triglyceride in Obese Turkish Children and Adolescents. Inandiklioğlu N et al. 2021 Journal of pediatric genetics
Help

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.post565+e32b82c