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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs509035

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:172445659 (GRCh38.p14) 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
G>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.246016 (65118/264690, TOPMED)
A=0.292895 (76309/260534, ALFA)
A=0.245644 (34400/140040, GnomAD) (+ 20 more)
A=0.23325 (18357/78700, PAGE_STUDY)
A=0.41227 (11650/28258, 14KJPN)
A=0.41390 (6937/16760, 8.3KJPN)
A=0.2327 (1490/6404, 1000G_30x)
A=0.2382 (1193/5008, 1000G)
A=0.2964 (1328/4480, Estonian)
A=0.3160 (1218/3854, ALSPAC)
A=0.3126 (1159/3708, TWINSUK)
A=0.4546 (1332/2930, KOREAN)
A=0.4678 (857/1832, Korea1K)
A=0.2005 (334/1666, HapMap)
A=0.338 (337/998, GoNL)
A=0.484 (381/788, PRJEB37584)
A=0.356 (223/626, Chileans)
A=0.378 (227/600, NorthernSweden)
G=0.364 (104/286, SGDP_PRJ)
A=0.106 (23/216, Qatari)
A=0.411 (88/214, Vietnamese)
A=0.17 (7/40, GENOME_DK)
G=0.39 (14/36, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
GHSR : Intron Variant
Publications
6 citations
Genomic View
See rs on genome

ALFA Allele Frequency
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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 265568 G=0.707996 A=0.292004, T=0.000000 0.507305 0.091314 0.401381 32
European Sub 229388 G=0.702866 A=0.297134, T=0.000000 0.497044 0.091313 0.411643 13
African Sub 11916 G=0.91381 A=0.08619, T=0.00000 0.836019 0.008392 0.155589 1
African Others Sub 444 G=0.968 A=0.032, T=0.000 0.936937 0.0 0.063063 0
African American Sub 11472 G=0.91170 A=0.08830, T=0.00000 0.832113 0.008717 0.15917 0
Asian Sub 3914 G=0.5299 A=0.4701, T=0.0000 0.286152 0.226367 0.487481 1
East Asian Sub 3150 G=0.5260 A=0.4740, T=0.0000 0.27873 0.226667 0.494603 0
Other Asian Sub 764 G=0.546 A=0.454, T=0.000 0.316754 0.225131 0.458115 1
Latin American 1 Sub 1188 G=0.7811 A=0.2189, T=0.0000 0.609428 0.047138 0.343434 0
Latin American 2 Sub 8810 G=0.6171 A=0.3829, T=0.0000 0.385698 0.151419 0.462883 1
South Asian Sub 380 G=0.758 A=0.242, T=0.000 0.589474 0.073684 0.336842 1
Other Sub 9972 G=0.7196 A=0.2804, T=0.0000 0.529483 0.090253 0.380265 9


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 G=0.753984 A=0.246016
Allele Frequency Aggregator Total Global 260534 G=0.707105 A=0.292895, T=0.000000
Allele Frequency Aggregator European Sub 226296 G=0.703008 A=0.296992, T=0.000000
Allele Frequency Aggregator African Sub 10774 G=0.91238 A=0.08762, T=0.00000
Allele Frequency Aggregator Other Sub 9172 G=0.7174 A=0.2826, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 8810 G=0.6171 A=0.3829, T=0.0000
Allele Frequency Aggregator Asian Sub 3914 G=0.5299 A=0.4701, T=0.0000
Allele Frequency Aggregator Latin American 1 Sub 1188 G=0.7811 A=0.2189, T=0.0000
Allele Frequency Aggregator South Asian Sub 380 G=0.758 A=0.242, T=0.000
gnomAD - Genomes Global Study-wide 140040 G=0.754356 A=0.245644
gnomAD - Genomes European Sub 75828 G=0.68410 A=0.31590
gnomAD - Genomes African Sub 41986 G=0.91435 A=0.08565
gnomAD - Genomes American Sub 13636 G=0.68612 A=0.31388
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=0.8054 A=0.1946
gnomAD - Genomes East Asian Sub 3124 G=0.5551 A=0.4449
gnomAD - Genomes Other Sub 2146 G=0.7512 A=0.2488
The PAGE Study Global Study-wide 78700 G=0.76675 A=0.23325
The PAGE Study AfricanAmerican Sub 32516 G=0.90322 A=0.09678
The PAGE Study Mexican Sub 10810 G=0.59898 A=0.40102
The PAGE Study Asian Sub 8316 G=0.5932 A=0.4068
The PAGE Study PuertoRican Sub 7918 G=0.7957 A=0.2043
The PAGE Study NativeHawaiian Sub 4534 G=0.5298 A=0.4702
The PAGE Study Cuban Sub 4230 G=0.7683 A=0.2317
The PAGE Study Dominican Sub 3828 G=0.8352 A=0.1648
The PAGE Study CentralAmerican Sub 2450 G=0.6514 A=0.3486
The PAGE Study SouthAmerican Sub 1982 G=0.6821 A=0.3179
The PAGE Study NativeAmerican Sub 1260 G=0.6587 A=0.3413
The PAGE Study SouthAsian Sub 856 G=0.746 A=0.254
14KJPN JAPANESE Study-wide 28258 G=0.58773 A=0.41227
8.3KJPN JAPANESE Study-wide 16760 G=0.58610 A=0.41390
1000Genomes_30x Global Study-wide 6404 G=0.7673 A=0.2327
1000Genomes_30x African Sub 1786 G=0.9440 A=0.0560
1000Genomes_30x Europe Sub 1266 G=0.7283 A=0.2717
1000Genomes_30x South Asian Sub 1202 G=0.7829 A=0.2171
1000Genomes_30x East Asian Sub 1170 G=0.5735 A=0.4265
1000Genomes_30x American Sub 980 G=0.708 A=0.292
1000Genomes Global Study-wide 5008 G=0.7618 A=0.2382
1000Genomes African Sub 1322 G=0.9433 A=0.0567
1000Genomes East Asian Sub 1008 G=0.5764 A=0.4236
1000Genomes Europe Sub 1006 G=0.7237 A=0.2763
1000Genomes South Asian Sub 978 G=0.782 A=0.218
1000Genomes American Sub 694 G=0.712 A=0.288
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.7036 A=0.2964
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.6840 A=0.3160
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.6874 A=0.3126
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.5454 A=0.4546, C=0.0000
Korean Genome Project KOREAN Study-wide 1832 G=0.5322 A=0.4678
HapMap Global Study-wide 1666 G=0.7995 A=0.2005
HapMap African Sub 692 G=0.929 A=0.071
HapMap American Sub 544 G=0.733 A=0.267
HapMap Asian Sub 254 G=0.618 A=0.382
HapMap Europe Sub 176 G=0.756 A=0.244
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.662 A=0.338
CNV burdens in cranial meningiomas Global Study-wide 788 G=0.516 A=0.484
CNV burdens in cranial meningiomas CRM Sub 788 G=0.516 A=0.484
Chileans Chilean Study-wide 626 G=0.644 A=0.356
Northern Sweden ACPOP Study-wide 600 G=0.622 A=0.378
SGDP_PRJ Global Study-wide 286 G=0.364 A=0.636
Qatari Global Study-wide 216 G=0.894 A=0.106
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.589 A=0.411
The Danish reference pan genome Danish Study-wide 40 G=0.82 A=0.17
Siberian Global Study-wide 36 G=0.39 A=0.61
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.p14 chr 3 NC_000003.12:g.172445659G>A
GRCh38.p14 chr 3 NC_000003.12:g.172445659G>C
GRCh38.p14 chr 3 NC_000003.12:g.172445659G>T
GRCh37.p13 chr 3 NC_000003.11:g.172163449G>A
GRCh37.p13 chr 3 NC_000003.11:g.172163449G>C
GRCh37.p13 chr 3 NC_000003.11:g.172163449G>T
GHSR RefSeqGene NG_021159.1:g.7798C>T
GHSR RefSeqGene NG_021159.1:g.7798C>G
GHSR RefSeqGene NG_021159.1:g.7798C>A
Gene: GHSR, growth hormone secretagogue receptor (minus strand)
Molecule type Change Amino acid[Codon] SO Term
GHSR transcript variant 1a NM_198407.2:c.797-194C>T N/A Intron Variant
GHSR transcript variant 1b NM_004122.2:c. N/A Genic Downstream 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.

Allele: A (allele ID: 1212861 )
ClinVar Accession Disease Names Clinical Significance
RCV001598093.3 not provided Benign
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 G= A C T
GRCh38.p14 chr 3 NC_000003.12:g.172445659= NC_000003.12:g.172445659G>A NC_000003.12:g.172445659G>C NC_000003.12:g.172445659G>T
GRCh37.p13 chr 3 NC_000003.11:g.172163449= NC_000003.11:g.172163449G>A NC_000003.11:g.172163449G>C NC_000003.11:g.172163449G>T
GHSR RefSeqGene NG_021159.1:g.7798= NG_021159.1:g.7798C>T NG_021159.1:g.7798C>G NG_021159.1:g.7798C>A
GHSR transcript variant 1a NM_198407.2:c.797-194= NM_198407.2:c.797-194C>T NM_198407.2:c.797-194C>G NM_198407.2:c.797-194C>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#.

123 SubSNP, 23 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss679139 Aug 11, 2000 (83)
2 KWOK ss1177164 Oct 04, 2000 (86)
3 KWOK ss2022812 Oct 18, 2000 (87)
4 SC_JCM ss2433920 Nov 08, 2000 (89)
5 SC_JCM ss4121798 Nov 05, 2001 (101)
6 CSHL-HAPMAP ss16936560 Feb 27, 2004 (120)
7 PERLEGEN ss23933056 Sep 20, 2004 (123)
8 ABI ss44423921 Mar 15, 2006 (126)
9 AFFY ss66085142 Nov 30, 2006 (127)
10 PERLEGEN ss68882718 May 17, 2007 (127)
11 ILLUMINA ss75207010 Dec 06, 2007 (129)
12 AFFY ss76031890 Dec 06, 2007 (129)
13 KRIBB_YJKIM ss81424395 Dec 15, 2007 (130)
14 HUMANGENOME_JCVI ss96075501 Feb 03, 2009 (130)
15 1000GENOMES ss112695937 Jan 25, 2009 (130)
16 ENSEMBL ss135426756 Dec 01, 2009 (131)
17 GMI ss156508950 Dec 01, 2009 (131)
18 ILLUMINA ss160738075 Dec 01, 2009 (131)
19 AFFY ss170640129 Jul 04, 2010 (132)
20 ILLUMINA ss173909217 Jul 04, 2010 (132)
21 1000GENOMES ss220582226 Jul 14, 2010 (132)
22 1000GENOMES ss232145149 Jul 14, 2010 (132)
23 1000GENOMES ss239492057 Jul 15, 2010 (132)
24 GMI ss277458526 May 04, 2012 (137)
25 GMI ss284795931 Apr 25, 2013 (138)
26 PJP ss292975172 May 09, 2011 (134)
27 ILLUMINA ss410938425 Sep 17, 2011 (135)
28 ILLUMINA ss481132334 May 04, 2012 (137)
29 ILLUMINA ss481154393 May 04, 2012 (137)
30 ILLUMINA ss482143884 Sep 08, 2015 (146)
31 ILLUMINA ss485361206 May 04, 2012 (137)
32 ILLUMINA ss537305468 Sep 08, 2015 (146)
33 SSMP ss650865115 Apr 25, 2013 (138)
34 ILLUMINA ss778928126 Sep 08, 2015 (146)
35 ILLUMINA ss783126287 Sep 08, 2015 (146)
36 ILLUMINA ss784082893 Sep 08, 2015 (146)
37 ILLUMINA ss832385130 Sep 08, 2015 (146)
38 ILLUMINA ss834389636 Sep 08, 2015 (146)
39 EVA-GONL ss979461319 Aug 21, 2014 (142)
40 JMKIDD_LAB ss1071058300 Aug 21, 2014 (142)
41 1000GENOMES ss1307294303 Aug 21, 2014 (142)
42 DDI ss1429673736 Apr 01, 2015 (144)
43 EVA_GENOME_DK ss1580298526 Apr 01, 2015 (144)
44 EVA_DECODE ss1588955971 Apr 01, 2015 (144)
45 EVA_UK10K_ALSPAC ss1608816617 Apr 01, 2015 (144)
46 EVA_UK10K_TWINSUK ss1651810650 Apr 01, 2015 (144)
47 EVA_SVP ss1712631979 Apr 01, 2015 (144)
48 ILLUMINA ss1752452746 Sep 08, 2015 (146)
49 WEILL_CORNELL_DGM ss1922681535 Feb 12, 2016 (147)
50 ILLUMINA ss1946102490 Feb 12, 2016 (147)
51 ILLUMINA ss1958629053 Feb 12, 2016 (147)
52 GENOMED ss1969591031 Jul 19, 2016 (147)
53 JJLAB ss2021916140 Sep 14, 2016 (149)
54 USC_VALOUEV ss2150013681 Dec 20, 2016 (150)
55 HUMAN_LONGEVITY ss2258207085 Dec 20, 2016 (150)
56 SYSTEMSBIOZJU ss2625457559 Nov 08, 2017 (151)
57 ILLUMINA ss2634044430 Nov 08, 2017 (151)
58 ILLUMINA ss2634044431 Nov 08, 2017 (151)
59 GRF ss2705434396 Nov 08, 2017 (151)
60 ILLUMINA ss2710992591 Nov 08, 2017 (151)
61 GNOMAD ss2802394620 Nov 08, 2017 (151)
62 SWEGEN ss2993651399 Nov 08, 2017 (151)
63 ILLUMINA ss3022313872 Nov 08, 2017 (151)
64 BIOINF_KMB_FNS_UNIBA ss3024726519 Nov 08, 2017 (151)
65 CSHL ss3345398101 Nov 08, 2017 (151)
66 ILLUMINA ss3625831479 Oct 12, 2018 (152)
67 ILLUMINA ss3628836852 Oct 12, 2018 (152)
68 ILLUMINA ss3631985653 Oct 12, 2018 (152)
69 ILLUMINA ss3633317128 Oct 12, 2018 (152)
70 ILLUMINA ss3634035221 Oct 12, 2018 (152)
71 ILLUMINA ss3634928405 Oct 12, 2018 (152)
72 ILLUMINA ss3635718599 Oct 12, 2018 (152)
73 ILLUMINA ss3636626358 Oct 12, 2018 (152)
74 ILLUMINA ss3637471037 Oct 12, 2018 (152)
75 ILLUMINA ss3638456616 Oct 12, 2018 (152)
76 ILLUMINA ss3640635702 Oct 12, 2018 (152)
77 ILLUMINA ss3641155004 Oct 12, 2018 (152)
78 ILLUMINA ss3641451730 Oct 12, 2018 (152)
79 ILLUMINA ss3643410330 Oct 12, 2018 (152)
80 ILLUMINA ss3644835151 Oct 12, 2018 (152)
81 URBANLAB ss3647587282 Oct 12, 2018 (152)
82 ILLUMINA ss3652794827 Oct 12, 2018 (152)
83 EGCUT_WGS ss3661600658 Jul 13, 2019 (153)
84 EVA_DECODE ss3710837097 Jul 13, 2019 (153)
85 ILLUMINA ss3726081860 Jul 13, 2019 (153)
86 ACPOP ss3730597568 Jul 13, 2019 (153)
87 ILLUMINA ss3744226258 Jul 13, 2019 (153)
88 ILLUMINA ss3745228385 Jul 13, 2019 (153)
89 EVA ss3761042244 Jul 13, 2019 (153)
90 PAGE_CC ss3771083320 Jul 13, 2019 (153)
91 ILLUMINA ss3772723540 Jul 13, 2019 (153)
92 KHV_HUMAN_GENOMES ss3804177485 Jul 13, 2019 (153)
93 EVA ss3828220693 Apr 25, 2020 (154)
94 EVA ss3837543432 Apr 25, 2020 (154)
95 EVA ss3842975557 Apr 25, 2020 (154)
96 SGDP_PRJ ss3857570012 Apr 25, 2020 (154)
97 KRGDB ss3903643018 Apr 25, 2020 (154)
98 KOGIC ss3952953020 Apr 25, 2020 (154)
99 EVA ss3984519235 Apr 26, 2021 (155)
100 EVA ss4017119325 Apr 26, 2021 (155)
101 TOPMED ss4593578715 Apr 26, 2021 (155)
102 TOMMO_GENOMICS ss5162866779 Apr 26, 2021 (155)
103 EVA ss5237337590 Apr 26, 2021 (155)
104 1000G_HIGH_COVERAGE ss5257018470 Oct 12, 2022 (156)
105 EVA ss5314912446 Oct 12, 2022 (156)
106 HUGCELL_USP ss5456063001 Oct 12, 2022 (156)
107 EVA ss5507312652 Oct 12, 2022 (156)
108 1000G_HIGH_COVERAGE ss5536986512 Oct 12, 2022 (156)
109 SANFORD_IMAGENETICS ss5624538812 Oct 12, 2022 (156)
110 SANFORD_IMAGENETICS ss5633758620 Oct 12, 2022 (156)
111 TOMMO_GENOMICS ss5696111891 Oct 12, 2022 (156)
112 EVA ss5799599712 Oct 12, 2022 (156)
113 EVA ss5800111178 Oct 12, 2022 (156)
114 YY_MCH ss5804494552 Oct 12, 2022 (156)
115 EVA ss5826863831 Oct 12, 2022 (156)
116 EVA ss5847231115 Oct 12, 2022 (156)
117 EVA ss5847990894 Oct 12, 2022 (156)
118 EVA ss5853961479 Oct 12, 2022 (156)
119 EVA ss5872143097 Oct 12, 2022 (156)
120 EVA ss5962135558 Oct 12, 2022 (156)
121 EVA ss5979680326 Oct 12, 2022 (156)
122 EVA ss5980187241 Oct 12, 2022 (156)
123 EVA ss5981218972 Oct 12, 2022 (156)
124 1000Genomes NC_000003.11 - 172163449 Oct 12, 2018 (152)
125 1000Genomes_30x NC_000003.12 - 172445659 Oct 12, 2022 (156)
126 The Avon Longitudinal Study of Parents and Children NC_000003.11 - 172163449 Oct 12, 2018 (152)
127 Chileans NC_000003.11 - 172163449 Apr 25, 2020 (154)
128 Genetic variation in the Estonian population NC_000003.11 - 172163449 Oct 12, 2018 (152)
129 The Danish reference pan genome NC_000003.11 - 172163449 Apr 25, 2020 (154)
130 gnomAD - Genomes NC_000003.12 - 172445659 Apr 26, 2021 (155)
131 Genome of the Netherlands Release 5 NC_000003.11 - 172163449 Apr 25, 2020 (154)
132 HapMap NC_000003.12 - 172445659 Apr 25, 2020 (154)
133 KOREAN population from KRGDB NC_000003.11 - 172163449 Apr 25, 2020 (154)
134 Korean Genome Project NC_000003.12 - 172445659 Apr 25, 2020 (154)
135 Northern Sweden NC_000003.11 - 172163449 Jul 13, 2019 (153)
136 The PAGE Study NC_000003.12 - 172445659 Jul 13, 2019 (153)
137 CNV burdens in cranial meningiomas NC_000003.11 - 172163449 Apr 26, 2021 (155)
138 Qatari NC_000003.11 - 172163449 Apr 25, 2020 (154)
139 SGDP_PRJ NC_000003.11 - 172163449 Apr 25, 2020 (154)
140 Siberian NC_000003.11 - 172163449 Apr 25, 2020 (154)
141 8.3KJPN NC_000003.11 - 172163449 Apr 26, 2021 (155)
142 14KJPN NC_000003.12 - 172445659 Oct 12, 2022 (156)
143 TopMed NC_000003.12 - 172445659 Apr 26, 2021 (155)
144 UK 10K study - Twins NC_000003.11 - 172163449 Oct 12, 2018 (152)
145 A Vietnamese Genetic Variation Database NC_000003.11 - 172163449 Jul 13, 2019 (153)
146 ALFA NC_000003.12 - 172445659 Apr 26, 2021 (155)
147 ClinVar RCV001598093.3 Oct 12, 2022 (156)
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)
rs60306541 Feb 26, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss66085142, ss76031890, ss112695937, ss170640129, ss277458526, ss284795931, ss292975172, ss481132334, ss1588955971, ss1712631979, ss3643410330 NC_000003.10:173646142:G:A NC_000003.12:172445658:G:A (self)
18601381, 10365159, 302647, 7338906, 6463465, 4555594, 10820412, 3882433, 68588, 4723465, 9586992, 2530035, 20836086, 10365159, 2267484, ss220582226, ss232145149, ss239492057, ss481154393, ss482143884, ss485361206, ss537305468, ss650865115, ss778928126, ss783126287, ss784082893, ss832385130, ss834389636, ss979461319, ss1071058300, ss1307294303, ss1429673736, ss1580298526, ss1608816617, ss1651810650, ss1752452746, ss1922681535, ss1946102490, ss1958629053, ss1969591031, ss2021916140, ss2150013681, ss2625457559, ss2634044430, ss2634044431, ss2705434396, ss2710992591, ss2802394620, ss2993651399, ss3022313872, ss3345398101, ss3625831479, ss3628836852, ss3631985653, ss3633317128, ss3634035221, ss3634928405, ss3635718599, ss3636626358, ss3637471037, ss3638456616, ss3640635702, ss3641155004, ss3641451730, ss3644835151, ss3652794827, ss3661600658, ss3730597568, ss3744226258, ss3745228385, ss3761042244, ss3772723540, ss3828220693, ss3837543432, ss3857570012, ss3903643018, ss3984519235, ss4017119325, ss5162866779, ss5237337590, ss5314912446, ss5507312652, ss5624538812, ss5633758620, ss5799599712, ss5800111178, ss5826863831, ss5847231115, ss5847990894, ss5962135558, ss5979680326, ss5980187241, ss5981218972 NC_000003.11:172163448:G:A NC_000003.12:172445658:G:A (self)
RCV001598093.3, 24512447, 132141589, 2510527, 9331021, 304789, 29948995, 430956270, 1043557639, ss2258207085, ss3024726519, ss3647587282, ss3710837097, ss3726081860, ss3771083320, ss3804177485, ss3842975557, ss3952953020, ss4593578715, ss5257018470, ss5456063001, ss5536986512, ss5696111891, ss5804494552, ss5853961479, ss5872143097 NC_000003.12:172445658:G:A NC_000003.12:172445658:G:A (self)
ss16936560 NT_005612.14:78658606:G:A NC_000003.12:172445658:G:A (self)
ss679139, ss1177164, ss2022812, ss2433920, ss4121798, ss23933056, ss44423921, ss68882718, ss75207010, ss81424395, ss96075501, ss135426756, ss156508950, ss160738075, ss173909217, ss410938425 NT_005612.16:78658594:G:A NC_000003.12:172445658:G:A (self)
10820412, ss3903643018 NC_000003.11:172163448:G:C NC_000003.12:172445658:G:C (self)
1043557639 NC_000003.12:172445658:G:T NC_000003.12:172445658:G:T (self)
Help

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

6 citations for rs509035
PMID Title Author Year Journal
18698404 Variations in the ghrelin receptor gene associate with obesity and glucose metabolism in individuals with impaired glucose tolerance. Mager U et al. 2008 PloS one
19593725 Association of maternally inherited GNAS alleles with African-American male birth weight. Adkins RM et al. 2010 International journal of pediatric obesity
20404923 Family and population-based studies of variation within the ghrelin receptor locus in relation to measures of obesity. Gjesing AP et al. 2010 PloS one
21269581 Analysis of the influence of the ghrelin receptor rs509035, rs512692 and rs2922126 polymorphisms in the risk of cardiovascular disease in patients with rheumatoid arthritis. Rodríguez-Rodríguez L et al. 2011 Clinical and experimental rheumatology
22927710 Genetic markers of cardiovascular disease in rheumatoid arthritis. Rodríguez-Rodríguez L et al. 2012 Mediators of inflammation
27329260 Genomewide meta-analysis identifies loci associated with IGF-I and IGFBP-3 levels with impact on age-related traits. Teumer A et al. 2016 Aging cell
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.post820+afb47a3d