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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.

rs1800863

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:43120185 (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
C>A / C>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.173637 (45960/264690, TOPMED)
G=0.170433 (23879/140108, GnomAD)
G=0.18553 (9369/50498, ALFA) (+ 19 more)
G=0.07774 (1303/16760, 8.3KJPN)
G=0.16095 (2093/13004, GO-ESP)
G=0.1725 (864/5008, 1000G)
G=0.1882 (843/4480, Estonian)
G=0.1819 (701/3854, ALSPAC)
G=0.1818 (674/3708, TWINSUK)
G=0.0918 (268/2918, KOREAN)
G=0.0857 (157/1832, Korea1K)
G=0.187 (187/998, GoNL)
G=0.119 (94/788, PRJEB37584)
G=0.123 (76/616, Vietnamese)
G=0.158 (95/600, NorthernSweden)
G=0.204 (109/534, MGP)
G=0.116 (38/328, HapMap)
G=0.196 (58/296, FINRISK)
G=0.231 (50/216, Qatari)
C=0.428 (83/194, SGDP_PRJ)
G=0.15 (6/40, GENOME_DK)
C=0.40 (12/30, Siberian)
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.43120185C>A
GRCh38.p13 chr 10 NC_000010.11:g.43120185C>G
GRCh37.p13 chr 10 NC_000010.10:g.43615633C>A
GRCh37.p13 chr 10 NC_000010.10:g.43615633C>G
RET RefSeqGene (LRG_518) NG_007489.1:g.48117C>A
RET RefSeqGene (LRG_518) NG_007489.1:g.48117C>G
Gene: RET, ret proto-oncogene (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RET transcript variant 5 NM_001355216.1:c.1950C>A S [TCC] > S [TCA] Coding Sequence Variant
proto-oncogene tyrosine-protein kinase receptor Ret isoform d NP_001342145.1:p.Ser650= S (Ser) > S (Ser) Synonymous Variant
RET transcript variant 5 NM_001355216.1:c.1950C>G S [TCC] > S [TCG] Coding Sequence Variant
proto-oncogene tyrosine-protein kinase receptor Ret isoform d NP_001342145.1:p.Ser650= S (Ser) > S (Ser) Synonymous Variant
RET transcript variant 2 NM_020975.6:c.2712C>A S [TCC] > S [TCA] Coding Sequence Variant
proto-oncogene tyrosine-protein kinase receptor Ret isoform a precursor NP_066124.1:p.Ser904= S (Ser) > S (Ser) Synonymous Variant
RET transcript variant 2 NM_020975.6:c.2712C>G S [TCC] > S [TCG] Coding Sequence Variant
proto-oncogene tyrosine-protein kinase receptor Ret isoform a precursor NP_066124.1:p.Ser904= S (Ser) > S (Ser) Synonymous Variant
RET transcript variant 4 NM_020630.6:c.2712C>A S [TCC] > S [TCA] Coding Sequence Variant
proto-oncogene tyrosine-protein kinase receptor Ret isoform c precursor NP_065681.1:p.Ser904= S (Ser) > S (Ser) Synonymous Variant
RET transcript variant 4 NM_020630.6:c.2712C>G S [TCC] > S [TCG] Coding Sequence Variant
proto-oncogene tyrosine-protein kinase receptor Ret isoform c precursor NP_065681.1:p.Ser904= S (Ser) > S (Ser) 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: 36305 )
ClinVar Accession Disease Names Clinical Significance
RCV000039053.11 not specified Benign
RCV000162948.1 Hereditary cancer-predisposing syndrome Benign
RCV000280812.2 Renal hypodysplasia/aplasia 1 Benign
RCV000296421.2 Hirschsprung disease 1 Benign
RCV000349734.2 Multiple endocrine neoplasia Benign
RCV000398445.2 Pheochromocytoma Benign
RCV000712297.5 not provided Benign
RCV001083340.1 Multiple endocrine neoplasia, type 2 Benign
RCV001281950.1 none provided Benign

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 50498 C=0.81447 G=0.18553
European Sub 38432 C=0.81208 G=0.18792
African Sub 3574 C=0.8741 G=0.1259
African Others Sub 122 C=0.910 G=0.090
African American Sub 3452 C=0.8728 G=0.1272
Asian Sub 168 C=0.923 G=0.077
East Asian Sub 112 C=0.946 G=0.054
Other Asian Sub 56 C=0.88 G=0.12
Latin American 1 Sub 500 C=0.854 G=0.146
Latin American 2 Sub 628 C=0.678 G=0.322
South Asian Sub 98 C=0.79 G=0.21
Other Sub 7098 C=0.8045 G=0.1955


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 C=0.826363 G=0.173637
gnomAD - Genomes Global Study-wide 140108 C=0.829567 G=0.170433
gnomAD - Genomes European Sub 75856 C=0.80989 G=0.19011
gnomAD - Genomes African Sub 42008 C=0.88855 G=0.11145
gnomAD - Genomes American Sub 13642 C=0.75106 G=0.24894
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.7965 G=0.2035
gnomAD - Genomes East Asian Sub 3130 C=0.8930 G=0.1070
gnomAD - Genomes Other Sub 2150 C=0.8284 G=0.1716
8.3KJPN JAPANESE Study-wide 16760 C=0.92226 G=0.07774
GO Exome Sequencing Project Global Study-wide 13004 C=0.83905 G=0.16095
GO Exome Sequencing Project European American Sub 8598 C=0.8134 G=0.1866
GO Exome Sequencing Project African American Sub 4406 C=0.8890 G=0.1110
1000Genomes Global Study-wide 5008 C=0.8275 G=0.1725
1000Genomes African Sub 1322 C=0.8949 G=0.1051
1000Genomes East Asian Sub 1008 C=0.8790 G=0.1210
1000Genomes Europe Sub 1006 C=0.8072 G=0.1928
1000Genomes South Asian Sub 978 C=0.762 G=0.238
1000Genomes American Sub 694 C=0.746 G=0.254
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.8118 G=0.1882
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.8181 G=0.1819
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.8182 G=0.1818
KOREAN population from KRGDB KOREAN Study-wide 2918 C=0.9082 G=0.0918
Korean Genome Project KOREAN Study-wide 1832 C=0.9143 G=0.0857
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.813 G=0.187
CNV burdens in cranial meningiomas Global Study-wide 788 C=0.881 G=0.119
CNV burdens in cranial meningiomas CRM Sub 788 C=0.881 G=0.119
A Vietnamese Genetic Variation Database Global Study-wide 616 C=0.877 G=0.123
Northern Sweden ACPOP Study-wide 600 C=0.842 G=0.158
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.796 G=0.204
HapMap Global Study-wide 328 C=0.884 G=0.116
HapMap African Sub 120 C=0.883 G=0.117
HapMap American Sub 120 C=0.875 G=0.125
HapMap Asian Sub 88 C=0.90 G=0.10
FINRISK Finnish from FINRISK project Study-wide 296 C=0.804 G=0.196
Qatari Global Study-wide 216 C=0.769 G=0.231
SGDP_PRJ Global Study-wide 194 C=0.428 G=0.572
The Danish reference pan genome Danish Study-wide 40 C=0.85 G=0.15
Siberian Global Study-wide 30 C=0.40 G=0.60
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 C= A G
GRCh38.p13 chr 10 NC_000010.11:g.43120185= NC_000010.11:g.43120185C>A NC_000010.11:g.43120185C>G
GRCh37.p13 chr 10 NC_000010.10:g.43615633= NC_000010.10:g.43615633C>A NC_000010.10:g.43615633C>G
RET RefSeqGene (LRG_518) NG_007489.1:g.48117= NG_007489.1:g.48117C>A NG_007489.1:g.48117C>G
RET transcript variant 2 NM_020975.6:c.2712= NM_020975.6:c.2712C>A NM_020975.6:c.2712C>G
RET transcript variant 2 NM_020975.5:c.2712= NM_020975.5:c.2712C>A NM_020975.5:c.2712C>G
RET transcript variant 2 NM_020975.4:c.2712= NM_020975.4:c.2712C>A NM_020975.4:c.2712C>G
RET transcript variant 4 NM_020630.6:c.2712= NM_020630.6:c.2712C>A NM_020630.6:c.2712C>G
RET transcript variant 4 NM_020630.5:c.2712= NM_020630.5:c.2712C>A NM_020630.5:c.2712C>G
RET transcript variant 4 NM_020630.4:c.2712= NM_020630.4:c.2712C>A NM_020630.4:c.2712C>G
RET transcript variant 5 NM_001355216.1:c.1950= NM_001355216.1:c.1950C>A NM_001355216.1:c.1950C>G
RET transcript variant 1 NM_000323.2:c.2712= NM_000323.2:c.2712C>A NM_000323.2:c.2712C>G
RET transcript variant 3 NM_020629.2:c.2712= NM_020629.2:c.2712C>A NM_020629.2:c.2712C>G
RET transcript variant 1 NM_000323.1:c.2712= NM_000323.1:c.2712C>A NM_000323.1:c.2712C>G
RET transcript variant 3 NM_020629.1:c.2712= NM_020629.1:c.2712C>A NM_020629.1:c.2712C>G
proto-oncogene tyrosine-protein kinase receptor Ret isoform a precursor NP_066124.1:p.Ser904= NP_066124.1:p.Ser904= NP_066124.1:p.Ser904=
proto-oncogene tyrosine-protein kinase receptor Ret isoform c precursor NP_065681.1:p.Ser904= NP_065681.1:p.Ser904= NP_065681.1:p.Ser904=
proto-oncogene tyrosine-protein kinase receptor Ret isoform d NP_001342145.1:p.Ser650= NP_001342145.1:p.Ser650= NP_001342145.1:p.Ser650=
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#.

93 SubSNP, 26 Frequency, 9 ClinVar submissions
No Submitter Submission ID Date (Build)
1 HGBASE ss2421009 Nov 14, 2000 (89)
2 ACEVAN ss4257569 Jan 04, 2002 (102)
3 KIDDLAB ss6312568 Feb 20, 2003 (111)
4 SC_SNP ss15590819 Feb 27, 2004 (120)
5 PERLEGEN ss24082069 Sep 20, 2004 (123)
6 MGC_GENOME_DIFF ss28504131 Sep 24, 2004 (126)
7 ABI ss38646150 Mar 10, 2006 (126)
8 APPLERA_GI ss48420665 Mar 10, 2006 (126)
9 SI_EXO ss52072838 Oct 16, 2006 (127)
10 ILLUMINA ss65733144 Oct 16, 2006 (127)
11 CANCER-GENOME ss74802615 Dec 06, 2007 (129)
12 HUMANGENOME_JCVI ss97643236 Feb 05, 2009 (130)
13 1000GENOMES ss109388258 Jan 24, 2009 (130)
14 ENSEMBL ss139849615 Dec 01, 2009 (131)
15 SEATTLESEQ ss159720380 Dec 01, 2009 (131)
16 ILLUMINA ss160462926 Dec 01, 2009 (131)
17 1000GENOMES ss224689038 Jul 14, 2010 (132)
18 1000GENOMES ss235148392 Jul 15, 2010 (132)
19 1000GENOMES ss241860245 Jul 15, 2010 (132)
20 BL ss254259942 May 09, 2011 (134)
21 GMI ss280589136 May 04, 2012 (137)
22 GMI ss286176747 Apr 25, 2013 (138)
23 PJP ss291024772 May 09, 2011 (134)
24 NHLBI-ESP ss342296567 May 09, 2011 (134)
25 CSU ss469272905 May 04, 2012 (137)
26 ILLUMINA ss481067498 Sep 08, 2015 (146)
27 ILLUMINA ss482590579 May 04, 2012 (137)
28 ILLUMINA ss484038326 May 04, 2012 (137)
29 1000GENOMES ss490995582 May 04, 2012 (137)
30 CLINSEQ_SNP ss491624092 May 04, 2012 (137)
31 ILLUMINA ss536229826 Sep 08, 2015 (146)
32 SSMP ss656624416 Apr 25, 2013 (138)
33 ARUP_RET ss749736347 May 03, 2013 (137)
34 ILLUMINA ss779523752 Aug 21, 2014 (142)
35 ILLUMINA ss782463771 Aug 21, 2014 (142)
36 ILLUMINA ss834994251 Aug 21, 2014 (142)
37 EVA-GONL ss987422921 Aug 21, 2014 (142)
38 JMKIDD_LAB ss1067512251 Aug 21, 2014 (142)
39 JMKIDD_LAB ss1076937055 Aug 21, 2014 (142)
40 1000GENOMES ss1337188182 Aug 21, 2014 (142)
41 DDI ss1426297852 Apr 01, 2015 (144)
42 EVA_GENOME_DK ss1575070624 Apr 01, 2015 (144)
43 EVA_FINRISK ss1584067735 Apr 01, 2015 (144)
44 EVA_DECODE ss1597087950 Apr 01, 2015 (144)
45 EVA_UK10K_ALSPAC ss1624447304 Apr 01, 2015 (144)
46 EVA_UK10K_TWINSUK ss1667441337 Apr 01, 2015 (144)
47 EVA_EXAC ss1689879822 Apr 01, 2015 (144)
48 EVA_EXAC ss1689879823 Apr 01, 2015 (144)
49 EVA_MGP ss1711254901 Apr 01, 2015 (144)
50 WEILL_CORNELL_DGM ss1930772636 Feb 12, 2016 (147)
51 GENOMED ss1966658528 Feb 12, 2016 (147)
52 JJLAB ss2026110330 Sep 14, 2016 (149)
53 USC_VALOUEV ss2154382936 Dec 20, 2016 (150)
54 HUMAN_LONGEVITY ss2174315054 Dec 20, 2016 (150)
55 TOPMED ss2337249821 Dec 20, 2016 (150)
56 SYSTEMSBIOZJU ss2627524064 Nov 08, 2017 (151)
57 ILLUMINA ss2632703584 Nov 08, 2017 (151)
58 GRF ss2698619095 Nov 08, 2017 (151)
59 GNOMAD ss2738210252 Nov 08, 2017 (151)
60 GNOMAD ss2748376543 Nov 08, 2017 (151)
61 GNOMAD ss2888038845 Nov 08, 2017 (151)
62 SWEGEN ss3006360805 Nov 08, 2017 (151)
63 BIOINF_KMB_FNS_UNIBA ss3026844139 Nov 08, 2017 (151)
64 TOPMED ss3118052707 Nov 08, 2017 (151)
65 CSHL ss3349086004 Nov 08, 2017 (151)
66 ILLUMINA ss3626433944 Oct 12, 2018 (152)
67 ILLUMINA ss3630729895 Oct 12, 2018 (152)
68 ILLUMINA ss3636081942 Oct 12, 2018 (152)
69 OMUKHERJEE_ADBS ss3646407697 Oct 12, 2018 (152)
70 URBANLAB ss3649351952 Oct 12, 2018 (152)
71 EGCUT_WGS ss3673800011 Jul 13, 2019 (153)
72 EVA_DECODE ss3689756790 Jul 13, 2019 (153)
73 ACPOP ss3737264507 Jul 13, 2019 (153)
74 EVA ss3748026136 Jul 13, 2019 (153)
75 KHV_HUMAN_GENOMES ss3813398612 Jul 13, 2019 (153)
76 EVA ss3824513904 Apr 26, 2020 (154)
77 EVA ss3825774451 Apr 26, 2020 (154)
78 EVA ss3832089119 Apr 26, 2020 (154)
79 SGDP_PRJ ss3874040361 Apr 26, 2020 (154)
80 KRGDB ss3922103011 Apr 26, 2020 (154)
81 KOGIC ss3967752998 Apr 26, 2020 (154)
82 FSA-LAB ss3983976543 Apr 26, 2021 (155)
83 EVA ss3984633206 Apr 26, 2021 (155)
84 EVA ss3986481974 Apr 26, 2021 (155)
85 TOPMED ss4850232307 Apr 26, 2021 (155)
86 TOMMO_GENOMICS ss5197327615 Apr 26, 2021 (155)
87 CPQ_GEN_INCA ss5236853635 Apr 26, 2021 (155)
88 CPQ_GEN_INCA ss5236856073 Apr 26, 2021 (155)
89 CPQ_GEN_INCA ss5236856074 Apr 26, 2021 (155)
90 CPQ_GEN_INCA ss5236856075 Apr 26, 2021 (155)
91 CPQ_GEN_INCA ss5236856076 Apr 26, 2021 (155)
92 EVA ss5236883344 Apr 26, 2021 (155)
93 EVA ss5237208517 Apr 26, 2021 (155)
94 1000Genomes NC_000010.10 - 43615633 Oct 12, 2018 (152)
95 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 43615633 Oct 12, 2018 (152)
96 Genetic variation in the Estonian population NC_000010.10 - 43615633 Oct 12, 2018 (152)
97 ExAC

Submission ignored due to conflicting rows:
Row 99282 (NC_000010.10:43615632:C:C 93909/118236, NC_000010.10:43615632:C:G 24327/118236)
Row 99283 (NC_000010.10:43615632:C:C 118232/118236, NC_000010.10:43615632:C:A 4/118236)

- Oct 12, 2018 (152)
98 ExAC

Submission ignored due to conflicting rows:
Row 99282 (NC_000010.10:43615632:C:C 93909/118236, NC_000010.10:43615632:C:G 24327/118236)
Row 99283 (NC_000010.10:43615632:C:C 118232/118236, NC_000010.10:43615632:C:A 4/118236)

- Oct 12, 2018 (152)
99 FINRISK NC_000010.10 - 43615633 Apr 26, 2020 (154)
100 The Danish reference pan genome NC_000010.10 - 43615633 Apr 26, 2020 (154)
101 gnomAD - Genomes NC_000010.11 - 43120185 Apr 26, 2021 (155)
102 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 7408084 (NC_000010.10:43615632:C:C 249542/249546, NC_000010.10:43615632:C:A 4/249546)
Row 7408085 (NC_000010.10:43615632:C:C 196832/249546, NC_000010.10:43615632:C:G 52714/249546)

- Jul 13, 2019 (153)
103 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 7408084 (NC_000010.10:43615632:C:C 249542/249546, NC_000010.10:43615632:C:A 4/249546)
Row 7408085 (NC_000010.10:43615632:C:C 196832/249546, NC_000010.10:43615632:C:G 52714/249546)

- Jul 13, 2019 (153)
104 GO Exome Sequencing Project NC_000010.10 - 43615633 Oct 12, 2018 (152)
105 Genome of the Netherlands Release 5 NC_000010.10 - 43615633 Apr 26, 2020 (154)
106 HapMap NC_000010.11 - 43120185 Apr 26, 2020 (154)
107 KOREAN population from KRGDB NC_000010.10 - 43615633 Apr 26, 2020 (154)
108 Korean Genome Project NC_000010.11 - 43120185 Apr 26, 2020 (154)
109 Medical Genome Project healthy controls from Spanish population NC_000010.10 - 43615633 Apr 26, 2020 (154)
110 Northern Sweden NC_000010.10 - 43615633 Jul 13, 2019 (153)
111 CNV burdens in cranial meningiomas NC_000010.10 - 43615633 Apr 26, 2021 (155)
112 Qatari NC_000010.10 - 43615633 Apr 26, 2020 (154)
113 SGDP_PRJ NC_000010.10 - 43615633 Apr 26, 2020 (154)
114 Siberian NC_000010.10 - 43615633 Apr 26, 2020 (154)
115 8.3KJPN NC_000010.10 - 43615633 Apr 26, 2021 (155)
116 TopMed NC_000010.11 - 43120185 Apr 26, 2021 (155)
117 UK 10K study - Twins NC_000010.10 - 43615633 Oct 12, 2018 (152)
118 A Vietnamese Genetic Variation Database NC_000010.10 - 43615633 Jul 13, 2019 (153)
119 ALFA NC_000010.11 - 43120185 Apr 26, 2021 (155)
120 ClinVar RCV000039053.11 Apr 26, 2021 (155)
121 ClinVar RCV000162948.1 Oct 12, 2018 (152)
122 ClinVar RCV000280812.2 Apr 26, 2021 (155)
123 ClinVar RCV000296421.2 Apr 26, 2021 (155)
124 ClinVar RCV000349734.2 Apr 26, 2021 (155)
125 ClinVar RCV000398445.2 Apr 26, 2021 (155)
126 ClinVar RCV000712297.5 Apr 26, 2021 (155)
127 ClinVar RCV001083340.1 Apr 26, 2021 (155)
128 ClinVar RCV001281950.1 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)
rs17849829 Mar 10, 2006 (126)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss1689879823, ss2738210252 NC_000010.10:43615632:C:A NC_000010.11:43120184:C:A (self)
ss2174315054 NC_000010.11:43120184:C:A NC_000010.11:43120184:C:A (self)
ss109388258, ss254259942, ss280589136, ss286176747, ss291024772, ss482590579, ss491624092, ss1597087950 NC_000010.9:42935638:C:G NC_000010.11:43120184:C:G (self)
49566775, 27522708, 19538259, 64196, 2127928, 971622, 12269573, 29280405, 370661, 10549372, 182664, 12814566, 26057341, 6899290, 55296922, 27522708, 6108559, ss224689038, ss235148392, ss241860245, ss342296567, ss481067498, ss484038326, ss490995582, ss536229826, ss656624416, ss779523752, ss782463771, ss834994251, ss987422921, ss1067512251, ss1076937055, ss1337188182, ss1426297852, ss1575070624, ss1584067735, ss1624447304, ss1667441337, ss1689879822, ss1711254901, ss1930772636, ss1966658528, ss2026110330, ss2154382936, ss2337249821, ss2627524064, ss2632703584, ss2698619095, ss2738210252, ss2748376543, ss2888038845, ss3006360805, ss3349086004, ss3626433944, ss3630729895, ss3636081942, ss3646407697, ss3673800011, ss3737264507, ss3748026136, ss3824513904, ss3825774451, ss3832089119, ss3874040361, ss3922103011, ss3983976543, ss3984633206, ss3986481974, ss5197327615, ss5236853635, ss5236856073, ss5236856074, ss5236856075, ss5236856076 NC_000010.10:43615632:C:G NC_000010.11:43120184:C:G (self)
RCV000039053.11, RCV000162948.1, RCV000280812.2, RCV000296421.2, RCV000349734.2, RCV000398445.2, RCV000712297.5, RCV001083340.1, RCV001281950.1, 350306250, 387362, 24130999, 41326082, 65777962, 16974388149, ss749736347, ss2174315054, ss3026844139, ss3118052707, ss3649351952, ss3689756790, ss3813398612, ss3967752998, ss4850232307, ss5236883344, ss5237208517 NC_000010.11:43120184:C:G NC_000010.11:43120184:C:G (self)
ss15590819, ss52072838 NT_033985.6:1018945:C:G NC_000010.11:43120184:C:G (self)
ss2421009, ss4257569, ss6312568, ss24082069, ss28504131, ss38646150, ss48420665, ss65733144, ss74802615, ss97643236, ss139849615, ss159720380, ss160462926, ss469272905 NT_033985.7:1260697:C:G NC_000010.11:43120184:C:G (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 rs1800863
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
20454948 Association analysis of the RET proto-oncogene with Hirschsprung disease in the Han Chinese population of southeastern China. Liu CP et al. 2010 Biochemical genetics
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
22312249 Molecular basis of medullary thyroid carcinoma: the role of RET polymorphisms. Ceolin L et al. 2012 International journal of molecular sciences
23757202 Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data. Bean LJ et al. 2013 Human mutation
24033266 A systematic approach to assessing the clinical significance of genetic variants. Duzkale H et al. 2013 Clinical genetics
24144365 Familial multinodular goiter syndrome with papillary thyroid carcinomas: mutational analysis of the associated genes in 5 cases from 1 Chinese family. Liao S et al. 2013 BMC endocrine disorders
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
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
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
27798940 Rare RET Variant p.D707E in a Chinese Pedigree with Hereditary Medullary Thyroid Carcinoma. Zhang L et al. 2017 Pathobiology
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
29983117 Association of medullary sponge kidney and hyperparathyroidism with RET G691S/S904S polymorphism: a case report. Janjua MU et al. 2018 Journal of medical case reports
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
32240776 Novel RET Proto-oncogene variants identified in Turkish patients with thyroid carcinoma. Tural S et al. 2020 Gene
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