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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.

rs1800861

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:43118395 (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
G>A / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.207854 (55017/264690, TOPMED)
G=0.260787 (65418/250848, GnomAD_exome)
G=0.204532 (28661/140130, GnomAD) (+ 19 more)
G=0.258090 (31201/120892, ExAC)
G=0.23474 (19147/81568, ALFA)
T=0.45119 (7562/16760, 8.3KJPN)
G=0.19737 (2567/13006, GO-ESP)
G=0.2875 (1440/5008, 1000G)
G=0.2924 (1310/4480, Estonian)
G=0.2229 (859/3854, ALSPAC)
G=0.2228 (826/3708, TWINSUK)
T=0.4532 (1328/2930, KOREAN)
T=0.4678 (857/1832, Korea1K)
G=0.215 (215/998, GoNL)
T=0.461 (283/614, Vietnamese)
G=0.183 (110/600, NorthernSweden)
G=0.363 (194/534, MGP)
G=0.227 (111/488, SGDP_PRJ)
G=0.260 (79/304, FINRISK)
G=0.282 (61/216, Qatari)
G=0.27 (13/48, Siberian)
G=0.25 (10/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
RET : Synonymous Variant
Publications
18 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 10 NC_000010.11:g.43118395G>A
GRCh38.p13 chr 10 NC_000010.11:g.43118395G>T
GRCh37.p13 chr 10 NC_000010.10:g.43613843G>A
GRCh37.p13 chr 10 NC_000010.10:g.43613843G>T
RET RefSeqGene (LRG_518) NG_007489.1:g.46327T>G
RET RefSeqGene (LRG_518) NG_007489.1:g.46327T>A
Gene: RET, ret proto-oncogene (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RET transcript variant 5 NM_001355216.1:c.1545G>A L [CTG] > L [CTA] Coding Sequence Variant
proto-oncogene tyrosine-protein kinase receptor Ret isoform d NP_001342145.1:p.Leu515= L (Leu) > L (Leu) Synonymous Variant
RET transcript variant 5 NM_001355216.1:c.1545G>T L [CTG] > L [CTT] Coding Sequence Variant
proto-oncogene tyrosine-protein kinase receptor Ret isoform d NP_001342145.1:p.Leu515= L (Leu) > L (Leu) Synonymous Variant
RET transcript variant 2 NM_020975.6:c.2307G>A L [CTG] > L [CTA] Coding Sequence Variant
proto-oncogene tyrosine-protein kinase receptor Ret isoform a precursor NP_066124.1:p.Leu769= L (Leu) > L (Leu) Synonymous Variant
RET transcript variant 2 NM_020975.6:c.2307G>T L [CTG] > L [CTT] Coding Sequence Variant
proto-oncogene tyrosine-protein kinase receptor Ret isoform a precursor NP_066124.1:p.Leu769= L (Leu) > L (Leu) Synonymous Variant
RET transcript variant 4 NM_020630.6:c.2307G>A L [CTG] > L [CTA] Coding Sequence Variant
proto-oncogene tyrosine-protein kinase receptor Ret isoform c precursor NP_065681.1:p.Leu769= L (Leu) > L (Leu) Synonymous Variant
RET transcript variant 4 NM_020630.6:c.2307G>T L [CTG] > L [CTT] Coding Sequence Variant
proto-oncogene tyrosine-protein kinase receptor Ret isoform c precursor NP_065681.1:p.Leu769= L (Leu) > L (Leu) Synonymous 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: G= (allele ID: 36276 )
ClinVar Accession Disease Names Clinical Significance
RCV000154625.1 not specified Benign
RCV000712295.5 not provided Benign
RCV001082520.1 Multiple endocrine neoplasia, type 2 Benign
RCV001283686.1 none provided Benign
Allele: T (allele ID: 175112 )
ClinVar Accession Disease Names Clinical Significance
RCV000153835.3 not specified Benign
RCV000860142.2 Multiple endocrine neoplasia, type 2 Benign

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 81568 G=0.23474 T=0.76526
European Sub 59872 G=0.24157 T=0.75843
African Sub 5566 G=0.1328 T=0.8672
African Others Sub 188 G=0.096 T=0.904
African American Sub 5378 G=0.1341 T=0.8659
Asian Sub 494 G=0.524 T=0.476
East Asian Sub 398 G=0.538 T=0.462
Other Asian Sub 96 G=0.47 T=0.53
Latin American 1 Sub 928 G=0.209 T=0.791
Latin American 2 Sub 4894 G=0.2385 T=0.7615
South Asian Sub 162 G=0.395 T=0.605
Other Sub 9652 G=0.2343 T=0.7657


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=0.207854 T=0.792146
gnomAD - Exomes Global Study-wide 250848 G=0.260787 T=0.739213
gnomAD - Exomes European Sub 134988 G=0.231435 T=0.768565
gnomAD - Exomes Asian Sub 48918 G=0.40875 T=0.59125
gnomAD - Exomes American Sub 34522 G=0.22933 T=0.77067
gnomAD - Exomes African Sub 16224 G=0.11545 T=0.88455
gnomAD - Exomes Ashkenazi Jewish Sub 10068 G=0.28596 T=0.71404
gnomAD - Exomes Other Sub 6128 G=0.2469 T=0.7531
gnomAD - Genomes Global Study-wide 140130 G=0.204532 T=0.795468
gnomAD - Genomes European Sub 75878 G=0.23045 T=0.76955
gnomAD - Genomes African Sub 42004 G=0.11875 T=0.88125
gnomAD - Genomes American Sub 13660 G=0.23419 T=0.76581
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.2905 T=0.7095
gnomAD - Genomes East Asian Sub 3116 G=0.4862 T=0.5138
gnomAD - Genomes Other Sub 2150 G=0.2363 T=0.7637
ExAC Global Study-wide 120892 G=0.258090 T=0.741910
ExAC Europe Sub 73024 G=0.23140 T=0.76860
ExAC Asian Sub 25072 G=0.40671 T=0.59329
ExAC American Sub 11522 G=0.23164 T=0.76836
ExAC African Sub 10374 G=0.11481 T=0.88519
ExAC Other Sub 900 G=0.273 T=0.727
8.3KJPN JAPANESE Study-wide 16760 G=0.54881 T=0.45119
GO Exome Sequencing Project Global Study-wide 13006 G=0.19737 T=0.80263
GO Exome Sequencing Project European American Sub 8600 G=0.2347 T=0.7653
GO Exome Sequencing Project African American Sub 4406 G=0.1246 T=0.8754
1000Genomes Global Study-wide 5008 G=0.2875 T=0.7125
1000Genomes African Sub 1322 G=0.0794 T=0.9206
1000Genomes East Asian Sub 1008 G=0.5258 T=0.4742
1000Genomes Europe Sub 1006 G=0.2356 T=0.7644
1000Genomes South Asian Sub 978 G=0.402 T=0.598
1000Genomes American Sub 694 G=0.252 T=0.748
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.2924 T=0.7076
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.2229 T=0.7771
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.2228 T=0.7772
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.5468 T=0.4532
Korean Genome Project KOREAN Study-wide 1832 G=0.5322 T=0.4678
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.215 T=0.785
A Vietnamese Genetic Variation Database Global Study-wide 614 G=0.539 T=0.461
Northern Sweden ACPOP Study-wide 600 G=0.183 T=0.817
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.363 T=0.637
SGDP_PRJ Global Study-wide 488 G=0.227 T=0.773
FINRISK Finnish from FINRISK project Study-wide 304 G=0.260 T=0.740
Qatari Global Study-wide 216 G=0.282 T=0.718
Siberian Global Study-wide 48 G=0.27 T=0.73
The Danish reference pan genome Danish Study-wide 40 G=0.25 T=0.75
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 T
GRCh38.p13 chr 10 NC_000010.11:g.43118395= NC_000010.11:g.43118395G>A NC_000010.11:g.43118395G>T
GRCh37.p13 chr 10 NC_000010.10:g.43613843= NC_000010.10:g.43613843G>A NC_000010.10:g.43613843G>T
RET RefSeqGene (LRG_518) NG_007489.1:g.46327T>G NG_007489.1:g.46327T>A NG_007489.1:g.46327=
RET transcript variant 2 NM_020975.6:c.2307= NM_020975.6:c.2307G>A NM_020975.6:c.2307G>T
RET transcript variant 2 NM_020975.5:c.2307= NM_020975.5:c.2307G>A NM_020975.5:c.2307G>T
RET transcript variant 2 NM_020975.4:c.2307T>G NM_020975.4:c.2307T>A NM_020975.4:c.2307=
RET transcript variant 4 NM_020630.6:c.2307= NM_020630.6:c.2307G>A NM_020630.6:c.2307G>T
RET transcript variant 4 NM_020630.5:c.2307= NM_020630.5:c.2307G>A NM_020630.5:c.2307G>T
RET transcript variant 4 NM_020630.4:c.2307T>G NM_020630.4:c.2307T>A NM_020630.4:c.2307=
RET transcript variant 5 NM_001355216.1:c.1545= NM_001355216.1:c.1545G>A NM_001355216.1:c.1545G>T
RET transcript variant 1 NM_000323.2:c.2307= NM_000323.2:c.2307G>A NM_000323.2:c.2307G>T
RET transcript variant 3 NM_020629.2:c.2307= NM_020629.2:c.2307G>A NM_020629.2:c.2307G>T
RET transcript variant 1 NM_000323.1:c.2307T>G NM_000323.1:c.2307T>A NM_000323.1:c.2307=
RET transcript variant 3 NM_020629.1:c.2307T>G NM_020629.1:c.2307T>A NM_020629.1:c.2307=
proto-oncogene tyrosine-protein kinase receptor Ret isoform a precursor NP_066124.1:p.Leu769= NP_066124.1:p.Leu769= NP_066124.1:p.Leu769=
proto-oncogene tyrosine-protein kinase receptor Ret isoform c precursor NP_065681.1:p.Leu769= NP_065681.1:p.Leu769= NP_065681.1:p.Leu769=
proto-oncogene tyrosine-protein kinase receptor Ret isoform d NP_001342145.1:p.Leu515= NP_001342145.1:p.Leu515= NP_001342145.1:p.Leu515=
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#.

117 SubSNP, 22 Frequency, 6 ClinVar submissions
No Submitter Submission ID Date (Build)
1 HGBASE ss2421007 Nov 14, 2000 (89)
2 TSC-CSHL ss2739118 Jan 22, 2001 (92)
3 YUSUKE ss2991163 Jun 15, 2001 (96)
4 SC_JCM ss3870417 Sep 28, 2001 (100)
5 ACEVAN ss4257565 Jan 04, 2002 (102)
6 KIDDLAB ss6312566 Feb 20, 2003 (111)
7 WI_SSAHASNP ss12104903 Jul 11, 2003 (116)
8 SC_SNP ss12984802 Dec 05, 2003 (119)
9 SC_SNP ss15787188 Feb 27, 2004 (120)
10 CSHL-HAPMAP ss16477749 Feb 27, 2004 (120)
11 SSAHASNP ss20647070 Apr 05, 2004 (121)
12 PERLEGEN ss24082042 Sep 20, 2004 (123)
13 MGC_GENOME_DIFF ss28504130 Sep 24, 2004 (126)
14 ABI ss38648344 Mar 11, 2006 (126)
15 APPLERA_GI ss48420666 Mar 11, 2006 (126)
16 CANCER-GENOME ss74802613 Dec 06, 2007 (129)
17 HGSV ss78463416 Dec 06, 2007 (129)
18 HGSV ss84321149 Dec 15, 2007 (130)
19 HGSV ss85609622 Dec 15, 2007 (130)
20 HUMANGENOME_JCVI ss97550803 Feb 06, 2009 (130)
21 BGI ss106671327 Feb 06, 2009 (130)
22 1000GENOMES ss109388242 Jan 24, 2009 (130)
23 1000GENOMES ss113163170 Jan 25, 2009 (130)
24 ILLUMINA-UK ss119140433 Feb 15, 2009 (130)
25 ENSEMBL ss138682540 Dec 01, 2009 (131)
26 GMI ss154929177 Dec 01, 2009 (131)
27 SEATTLESEQ ss159720379 Dec 01, 2009 (131)
28 ILLUMINA ss160462925 Dec 01, 2009 (131)
29 COMPLETE_GENOMICS ss168242264 Jul 04, 2010 (132)
30 ILLUMINA ss168932500 Jul 04, 2010 (132)
31 COMPLETE_GENOMICS ss169757319 Jul 04, 2010 (132)
32 COMPLETE_GENOMICS ss174506120 Jul 04, 2010 (132)
33 BUSHMAN ss201437918 Jul 04, 2010 (132)
34 BCM-HGSC-SUB ss207183904 Jul 04, 2010 (132)
35 1000GENOMES ss224689032 Jul 14, 2010 (132)
36 1000GENOMES ss235148385 Jul 15, 2010 (132)
37 1000GENOMES ss241860239 Jul 15, 2010 (132)
38 BL ss254259920 May 09, 2011 (134)
39 GMI ss280589129 May 04, 2012 (137)
40 GMI ss286176744 Apr 25, 2013 (138)
41 PJP ss291024756 May 09, 2011 (134)
42 NHLBI-ESP ss342296557 May 09, 2011 (134)
43 ILLUMINA ss481067494 Sep 08, 2015 (146)
44 ILLUMINA ss482590572 May 04, 2012 (137)
45 ILLUMINA ss483978010 May 04, 2012 (137)
46 1000GENOMES ss490995579 May 04, 2012 (137)
47 CLINSEQ_SNP ss491624085 May 04, 2012 (137)
48 ILLUMINA ss536171571 Sep 08, 2015 (146)
49 TISHKOFF ss561914406 Apr 25, 2013 (138)
50 SSMP ss656624367 Apr 25, 2013 (138)
51 ARUP_RET ss749736451 May 03, 2013 (137)
52 ILLUMINA ss782433169 Sep 08, 2015 (146)
53 JMKIDD_LAB ss974474450 Aug 21, 2014 (142)
54 EVA-GONL ss987422901 Aug 21, 2014 (142)
55 JMKIDD_LAB ss1067512247 Aug 21, 2014 (142)
56 JMKIDD_LAB ss1076937047 Aug 21, 2014 (142)
57 1000GENOMES ss1337188114 Aug 21, 2014 (142)
58 DDI ss1426297846 Apr 01, 2015 (144)
59 EVA_GENOME_DK ss1575070608 Apr 01, 2015 (144)
60 EVA_FINRISK ss1584067730 Apr 01, 2015 (144)
61 EVA_DECODE ss1597087934 Apr 01, 2015 (144)
62 EVA_UK10K_ALSPAC ss1624447274 Apr 01, 2015 (144)
63 EVA_UK10K_TWINSUK ss1667441307 Apr 01, 2015 (144)
64 EVA_EXAC ss1689879690 Apr 01, 2015 (144)
65 EVA_MGP ss1711254895 Apr 01, 2015 (144)
66 HAMMER_LAB ss1806359310 Sep 08, 2015 (146)
67 WEILL_CORNELL_DGM ss1930772617 Feb 12, 2016 (147)
68 GENOMED ss1966658527 Feb 12, 2016 (147)
69 JJLAB ss2026110320 Sep 14, 2016 (149)
70 USC_VALOUEV ss2154382924 Dec 20, 2016 (150)
71 HUMAN_LONGEVITY ss2174314925 Dec 20, 2016 (150)
72 TOPMED ss2337249689 Dec 20, 2016 (150)
73 SYSTEMSBIOZJU ss2627524059 Nov 08, 2017 (151)
74 ILLUMINA ss2632703582 Nov 08, 2017 (151)
75 GRF ss2698619087 Nov 08, 2017 (151)
76 GNOMAD ss2738210072 Nov 08, 2017 (151)
77 GNOMAD ss2748376493 Nov 08, 2017 (151)
78 GNOMAD ss2888038688 Nov 08, 2017 (151)
79 SWEGEN ss3006360781 Nov 08, 2017 (151)
80 EVA_SAMSUNG_MC ss3023065475 Nov 08, 2017 (151)
81 BIOINF_KMB_FNS_UNIBA ss3026844134 Nov 08, 2017 (151)
82 TOPMED ss3118052369 Nov 08, 2017 (151)
83 CSHL ss3349085996 Nov 08, 2017 (151)
84 ILLUMINA ss3626433938 Oct 12, 2018 (152)
85 ILLUMINA ss3636081937 Oct 12, 2018 (152)
86 ILLUMINA ss3637846545 Oct 12, 2018 (152)
87 ILLUMINA ss3641674571 Oct 12, 2018 (152)
88 OMUKHERJEE_ADBS ss3646407694 Oct 12, 2018 (152)
89 URBANLAB ss3649351947 Oct 12, 2018 (152)
90 EGCUT_WGS ss3673799989 Jul 13, 2019 (153)
91 EVA_DECODE ss3689756762 Jul 13, 2019 (153)
92 ACPOP ss3737264490 Jul 13, 2019 (153)
93 EVA ss3748026108 Jul 13, 2019 (153)
94 PACBIO ss3786650850 Jul 13, 2019 (153)
95 PACBIO ss3791833675 Jul 13, 2019 (153)
96 PACBIO ss3796715729 Jul 13, 2019 (153)
97 KHV_HUMAN_GENOMES ss3813398597 Jul 13, 2019 (153)
98 EVA ss3824513884 Apr 26, 2020 (154)
99 EVA ss3825526340 Apr 26, 2020 (154)
100 EVA ss3825541862 Apr 26, 2020 (154)
101 EVA ss3825774442 Apr 26, 2020 (154)
102 EVA ss3832089110 Apr 26, 2020 (154)
103 EVA ss3839579304 Apr 26, 2020 (154)
104 EVA ss3845051143 Apr 26, 2020 (154)
105 SGDP_PRJ ss3874040341 Apr 26, 2020 (154)
106 KRGDB ss3922102980 Apr 26, 2020 (154)
107 KOGIC ss3967752960 Apr 26, 2020 (154)
108 FSA-LAB ss3983976537 Apr 26, 2021 (155)
109 EVA ss3986049837 Apr 26, 2021 (155)
110 EVA ss3986481967 Apr 26, 2021 (155)
111 TOPMED ss4850231833 Apr 26, 2021 (155)
112 TOMMO_GENOMICS ss5197327542 Apr 26, 2021 (155)
113 CPQ_GEN_INCA ss5236853633 Apr 26, 2021 (155)
114 CPQ_GEN_INCA ss5236856063 Apr 26, 2021 (155)
115 CPQ_GEN_INCA ss5236856064 Apr 26, 2021 (155)
116 EVA ss5236883341 Apr 26, 2021 (155)
117 EVA ss5237208516 Apr 26, 2021 (155)
118 1000Genomes NC_000010.10 - 43613843 Oct 12, 2018 (152)
119 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 43613843 Oct 12, 2018 (152)
120 Genetic variation in the Estonian population NC_000010.10 - 43613843 Oct 12, 2018 (152)
121 ExAC NC_000010.10 - 43613843 Oct 12, 2018 (152)
122 FINRISK NC_000010.10 - 43613843 Apr 26, 2020 (154)
123 The Danish reference pan genome NC_000010.10 - 43613843 Apr 26, 2020 (154)
124 gnomAD - Genomes NC_000010.11 - 43118395 Apr 26, 2021 (155)
125 gnomAD - Exomes NC_000010.10 - 43613843 Jul 13, 2019 (153)
126 GO Exome Sequencing Project NC_000010.10 - 43613843 Oct 12, 2018 (152)
127 Genome of the Netherlands Release 5 NC_000010.10 - 43613843 Apr 26, 2020 (154)
128 KOREAN population from KRGDB NC_000010.10 - 43613843 Apr 26, 2020 (154)
129 Korean Genome Project NC_000010.11 - 43118395 Apr 26, 2020 (154)
130 Medical Genome Project healthy controls from Spanish population NC_000010.10 - 43613843 Apr 26, 2020 (154)
131 Northern Sweden NC_000010.10 - 43613843 Jul 13, 2019 (153)
132 Qatari NC_000010.10 - 43613843 Apr 26, 2020 (154)
133 SGDP_PRJ NC_000010.10 - 43613843 Apr 26, 2020 (154)
134 Siberian NC_000010.10 - 43613843 Apr 26, 2020 (154)
135 8.3KJPN NC_000010.10 - 43613843 Apr 26, 2021 (155)
136 TopMed NC_000010.11 - 43118395 Apr 26, 2021 (155)
137 UK 10K study - Twins NC_000010.10 - 43613843 Oct 12, 2018 (152)
138 A Vietnamese Genetic Variation Database NC_000010.10 - 43613843 Jul 13, 2019 (153)
139 ALFA NC_000010.11 - 43118395 Apr 26, 2021 (155)
140 ClinVar RCV000153835.3 Oct 12, 2018 (152)
141 ClinVar RCV000154625.1 Oct 12, 2018 (152)
142 ClinVar RCV000712295.5 Apr 26, 2021 (155)
143 ClinVar RCV000860142.2 Apr 26, 2021 (155)
144 ClinVar RCV001082520.1 Apr 26, 2021 (155)
145 ClinVar RCV001283686.1 Apr 26, 2021 (155)
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)
rs17849828 Mar 11, 2006 (126)
rs60857160 May 26, 2008 (130)
rs117817101 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss201437918 NC_000010.9:42933848:G:A NC_000010.11:43118394:G:A (self)
ss78463416, ss84321149, ss85609622 NC_000010.8:42933848:G:T NC_000010.11:43118394:G:T (self)
ss109388242, ss113163170, ss119140433, ss168242264, ss169757319, ss174506120, ss201437918, ss207183904, ss254259920, ss280589129, ss286176744, ss291024756, ss482590572, ss491624085, ss1597087934 NC_000010.9:42933848:G:T NC_000010.11:43118394:G:T (self)
49566707, 27522678, 19538237, 99147, 64191, 2127920, 7407912, 971604, 12269555, 29280374, 370655, 10549355, 12814547, 26057321, 6899278, 55296849, 27522678, 6108551, ss224689032, ss235148385, ss241860239, ss342296557, ss481067494, ss483978010, ss490995579, ss536171571, ss561914406, ss656624367, ss782433169, ss974474450, ss987422901, ss1067512247, ss1076937047, ss1337188114, ss1426297846, ss1575070608, ss1584067730, ss1624447274, ss1667441307, ss1689879690, ss1711254895, ss1806359310, ss1930772617, ss1966658527, ss2026110320, ss2154382924, ss2337249689, ss2627524059, ss2632703582, ss2698619087, ss2738210072, ss2748376493, ss2888038688, ss3006360781, ss3023065475, ss3349085996, ss3626433938, ss3636081937, ss3637846545, ss3641674571, ss3646407694, ss3673799989, ss3737264490, ss3748026108, ss3786650850, ss3791833675, ss3796715729, ss3824513884, ss3825526340, ss3825541862, ss3825774442, ss3832089110, ss3839579304, ss3874040341, ss3922102980, ss3983976537, ss3986049837, ss3986481967, ss5197327542, ss5236853633, ss5236856063, ss5236856064 NC_000010.10:43613842:G:T NC_000010.11:43118394:G:T (self)
RCV000153835.3, RCV000860142.2, 350305872, 24130961, 41325778, 65777488, 12536822517, ss749736451, ss2174314925, ss3026844134, ss3118052369, ss3649351947, ss3689756762, ss3813398597, ss3845051143, ss3967752960, ss4850231833, ss5236883341, ss5237208516 NC_000010.11:43118394:G:T NC_000010.11:43118394:G:T (self)
ss12104903, ss12984802 NT_033985.5:736156:G:T NC_000010.11:43118394:G:T (self)
ss15787188, ss16477749, ss20647070 NT_033985.6:1017155:G:T NC_000010.11:43118394:G:T (self)
ss2421007, ss2739118, ss2991163, ss3870417, ss4257565, ss6312566, ss24082042, ss28504130, ss38648344, ss48420666, ss74802613, ss97550803, ss106671327, ss138682540, ss154929177, ss159720379, ss160462925, ss168932500 NT_033985.7:1258907:G:T NC_000010.11:43118394: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.

18 citations for rs1800861
PMID Title Author Year Journal
8084609 DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene. Ceccherini I et al. 1994 Oncogene
19138047 Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan. Sigurdson AJ et al. 2009 Radiation research
19379518 Development of a fingerprinting panel using medically relevant polymorphisms. Cross DS et al. 2009 BMC medical genomics
20532249 Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population. Cornes BK et al. 2010 PloS one
20565774 Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project. Cross DS et al. 2010 BMC genetics
21349203 Genetic variants in RET and risk of Hirschsprung's disease in Southeastern Chinese: a haplotype-based analysis. Tou J et al. 2011 BMC medical genetics
22024213 A novel gene-environment interaction involved in endometriosis. McCarty CA et al. 2012 International journal of gynaecology and obstetrics
22312249 Molecular basis of medullary thyroid carcinoma: the role of RET polymorphisms. Ceolin L et al. 2012 International journal of molecular sciences
24033266 A systematic approach to assessing the clinical significance of genetic variants. Duzkale H et al. 2013 Clinical genetics
24897126 RET variants and haplotype analysis in a cohort of Czech patients with Hirschsprung disease. Vaclavikova E et al. 2014 PloS one
25330015 Association of RET genetic polymorphisms and haplotypes with papillary thyroid carcinoma in the Portuguese population: a case-control study. Santos M et al. 2014 PloS one
25736215 Possible Impact of RET Polymorphism and Its Haplotypic Association Modulates the Susceptibility to Thyroid Cancer. Khan MS et al. 2015 Journal of cellular biochemistry
26829565 Effect of 3'UTR RET Variants on RET mRNA Secondary Structure and Disease Presentation in Medullary Thyroid Carcinoma. Ceolin L et al. 2016 PloS one
28946813 Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers. Lebeault M et al. 2017 Thyroid
30089490 Thyroid cancers of follicular origin in a genomic light: in-depth overview of common and unique molecular marker candidates. PstrÄ…g N et al. 2018 Molecular cancer
32228166 Polymorphisms Within the <i>RET</i> Proto-Oncogene and Risk of Sporadic Medullary Thyroid Carcinoma. Gemignani F et al. 2020 Thyroid
32368160 Adamantinomatous Craniopharyngioma in an Adult: A Case Report with NGS Analysis. Jastania RA et al. 2020 International medical case reports journal
33342844 A study on genetic polymorphism of RET proto-oncogene in Hirschsprung's disease in children. Kumari M et al. 2020 African journal of paediatric surgery
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.post596+ae089ad