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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.

rs206018

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr6:32210103 (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 / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.207741 (54987/264690, TOPMED)
G=0.15226 (12559/82486, ALFA)
G=0.18968 (3179/16760, 8.3KJPN) (+ 15 more)
G=0.2111 (1057/5008, 1000G)
G=0.1625 (728/4480, Estonian)
G=0.1806 (696/3854, ALSPAC)
G=0.1742 (646/3708, TWINSUK)
G=0.2186 (640/2928, KOREAN)
G=0.174 (174/998, GoNL)
G=0.168 (132/788, PRJEB37584)
G=0.262 (157/600, NorthernSweden)
G=0.181 (58/320, HapMap)
G=0.088 (19/216, Qatari)
G=0.093 (20/216, Vietnamese)
C=0.418 (76/182, SGDP_PRJ)
G=0.17 (7/40, GENOME_DK)
C=0.50 (9/18, Siberian)
G=0.50 (9/18, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NOTCH4 : Intron Variant
Publications
1 citation
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 6 NC_000006.12:g.32210103C>A
GRCh38.p13 chr 6 NC_000006.12:g.32210103C>G
GRCh38.p13 chr 6 NC_000006.12:g.32210103C>T
GRCh37.p13 chr 6 NC_000006.11:g.32177880C>A
GRCh37.p13 chr 6 NC_000006.11:g.32177880C>G
GRCh37.p13 chr 6 NC_000006.11:g.32177880C>T
NOTCH4 RefSeqGene NG_028190.1:g.18965G>T
NOTCH4 RefSeqGene NG_028190.1:g.18965G>C
NOTCH4 RefSeqGene NG_028190.1:g.18965G>A
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.3648456C>A
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.3648456C>G
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.3648456C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.3648562C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.3648562C>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.3648562C>T
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.3526313C>A
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.3526313C>G
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.3526313C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.3525611C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.3525611C>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.3525611C>T
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.3433309G>C
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.3433309G>A
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.3433309G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.3438905G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.3438905G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.3438905G>T
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.3552127C>A
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.3552127C>G
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.3552127C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.3557712C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.3557712C>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.3557712C>T
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.3515086C>A
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.3515086C>G
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.3515086C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.3520706C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.3520706C>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.3520706C>T
Gene: NOTCH4, notch receptor 4 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
NOTCH4 transcript NM_004557.4:c.2865+649G>T N/A Intron Variant
NOTCH4 transcript variant 2 NR_134949.2:n. N/A Intron Variant
NOTCH4 transcript variant 3 NR_134950.2:n. N/A Intron 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.

Not Reported in ClinVar

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 82486 C=0.84774 A=0.00000, G=0.15226
European Sub 73810 C=0.84631 A=0.00000, G=0.15369
African Sub 2634 C=0.9241 A=0.0000, G=0.0759
African Others Sub 132 C=0.902 A=0.000, G=0.098
African American Sub 2502 C=0.9253 A=0.0000, G=0.0747
Asian Sub 3236 C=0.8103 A=0.0000, G=0.1897
East Asian Sub 2618 C=0.8163 A=0.0000, G=0.1837
Other Asian Sub 618 C=0.785 A=0.000, G=0.215
Latin American 1 Sub 400 C=0.890 A=0.000, G=0.110
Latin American 2 Sub 614 C=0.834 A=0.000, G=0.166
South Asian Sub 242 C=0.864 A=0.000, G=0.136
Other Sub 1550 C=0.8568 A=0.0000, G=0.1432


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=0.792259 G=0.207741
8.3KJPN JAPANESE Study-wide 16760 C=0.81032 G=0.18968
1000Genomes Global Study-wide 5008 C=0.7889 G=0.2111
1000Genomes African Sub 1322 C=0.7988 G=0.2012
1000Genomes East Asian Sub 1008 C=0.8323 G=0.1677
1000Genomes Europe Sub 1006 C=0.7833 G=0.2167
1000Genomes South Asian Sub 978 C=0.815 G=0.185
1000Genomes American Sub 694 C=0.679 G=0.321
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.8375 G=0.1625
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.8194 G=0.1806
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.8258 G=0.1742
KOREAN population from KRGDB KOREAN Study-wide 2928 C=0.7814 A=0.0000, G=0.2186, T=0.0000
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.826 G=0.174
CNV burdens in cranial meningiomas Global Study-wide 788 C=0.832 G=0.168
CNV burdens in cranial meningiomas CRM Sub 788 C=0.832 G=0.168
Northern Sweden ACPOP Study-wide 600 C=0.738 G=0.262
HapMap Global Study-wide 320 C=0.819 G=0.181
HapMap American Sub 120 C=0.800 G=0.200
HapMap African Sub 114 C=0.798 G=0.202
HapMap Asian Sub 86 C=0.87 G=0.13
Qatari Global Study-wide 216 C=0.912 G=0.088
A Vietnamese Genetic Variation Database Global Study-wide 216 C=0.907 G=0.093
SGDP_PRJ Global Study-wide 182 C=0.418 G=0.582
The Danish reference pan genome Danish Study-wide 40 C=0.82 G=0.17
Siberian Global Study-wide 18 C=0.50 G=0.50
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 T
GRCh38.p13 chr 6 NC_000006.12:g.32210103= NC_000006.12:g.32210103C>A NC_000006.12:g.32210103C>G NC_000006.12:g.32210103C>T
GRCh37.p13 chr 6 NC_000006.11:g.32177880= NC_000006.11:g.32177880C>A NC_000006.11:g.32177880C>G NC_000006.11:g.32177880C>T
NOTCH4 RefSeqGene NG_028190.1:g.18965= NG_028190.1:g.18965G>T NG_028190.1:g.18965G>C NG_028190.1:g.18965G>A
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.3648456= NT_113891.3:g.3648456C>A NT_113891.3:g.3648456C>G NT_113891.3:g.3648456C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.3648562= NT_113891.2:g.3648562C>A NT_113891.2:g.3648562C>G NT_113891.2:g.3648562C>T
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.3526313= NT_167249.2:g.3526313C>A NT_167249.2:g.3526313C>G NT_167249.2:g.3526313C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.3525611= NT_167249.1:g.3525611C>A NT_167249.1:g.3525611C>G NT_167249.1:g.3525611C>T
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.3433309G>C NT_167248.2:g.3433309G>A NT_167248.2:g.3433309= NT_167248.2:g.3433309G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.3438905G>C NT_167248.1:g.3438905G>A NT_167248.1:g.3438905= NT_167248.1:g.3438905G>T
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.3552127= NT_167247.2:g.3552127C>A NT_167247.2:g.3552127C>G NT_167247.2:g.3552127C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.3557712= NT_167247.1:g.3557712C>A NT_167247.1:g.3557712C>G NT_167247.1:g.3557712C>T
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.3515086= NT_167246.2:g.3515086C>A NT_167246.2:g.3515086C>G NT_167246.2:g.3515086C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.3520706= NT_167246.1:g.3520706C>A NT_167246.1:g.3520706C>G NT_167246.1:g.3520706C>T
NOTCH4 transcript NM_004557.3:c.2865+649= NM_004557.3:c.2865+649G>T NM_004557.3:c.2865+649G>C NM_004557.3:c.2865+649G>A
NOTCH4 transcript NM_004557.4:c.2865+649= NM_004557.4:c.2865+649G>T NM_004557.4:c.2865+649G>C NM_004557.4:c.2865+649G>A
NOTCH4 transcript variant X1 XM_005249153.1:c.2865+649= XM_005249153.1:c.2865+649G>T XM_005249153.1:c.2865+649G>C XM_005249153.1:c.2865+649G>A
NOTCH4 transcript variant X2 XM_005249154.1:c.2865+649= XM_005249154.1:c.2865+649G>T XM_005249154.1:c.2865+649G>C XM_005249154.1:c.2865+649G>A
NOTCH4 transcript variant X1 XM_005272831.1:c.2871+649= XM_005272831.1:c.2871+649G>T XM_005272831.1:c.2871+649G>C XM_005272831.1:c.2871+649G>A
NOTCH4 transcript variant X1 XM_005275135.1:c.2862+649= XM_005275135.1:c.2862+649G>T XM_005275135.1:c.2862+649G>C XM_005275135.1:c.2862+649G>A
NOTCH4 transcript variant X2 XM_005275136.1:c.2862+649= XM_005275136.1:c.2862+649G>T XM_005275136.1:c.2862+649G>C XM_005275136.1:c.2862+649G>A
NOTCH4 transcript variant X1 XM_005275263.1:c.2865+649= XM_005275263.1:c.2865+649G>T XM_005275263.1:c.2865+649G>C XM_005275263.1:c.2865+649G>A
NOTCH4 transcript variant X2 XM_005275264.1:c.2865+649= XM_005275264.1:c.2865+649G>T XM_005275264.1:c.2865+649G>C XM_005275264.1:c.2865+649G>A
NOTCH4 transcript variant X1 XM_005275420.1:c.2865+649C>G XM_005275420.1:c.2865+649C>T XM_005275420.1:c.2865+649= XM_005275420.1:c.2865+649C>A
NOTCH4 transcript variant X2 XM_005275421.1:c.2865+649C>G XM_005275421.1:c.2865+649C>T XM_005275421.1:c.2865+649= XM_005275421.1:c.2865+649C>A
NOTCH4 transcript variant X1 XM_005275569.1:c.2865+649= XM_005275569.1:c.2865+649G>T XM_005275569.1:c.2865+649G>C XM_005275569.1:c.2865+649G>A
NOTCH4 transcript variant X2 XM_005275570.1:c.2865+649= XM_005275570.1:c.2865+649G>T XM_005275570.1:c.2865+649G>C XM_005275570.1:c.2865+649G>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#.

105 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss270025 Jul 12, 2000 (79)
2 SC_JCM ss596313 Jul 16, 2000 (87)
3 KWOK ss1034431 Oct 05, 2000 (87)
4 KWOK ss1954849 Oct 18, 2000 (87)
5 KWOK ss1955200 Oct 18, 2000 (87)
6 BCM_SSAHASNP ss10273967 Jul 11, 2003 (117)
7 WI_SSAHASNP ss11773963 Jul 11, 2003 (117)
8 SI_MHC_SNP ss12692227 Oct 31, 2003 (118)
9 SC_SNP ss13097038 Dec 05, 2003 (130)
10 PERLEGEN ss23715095 Sep 20, 2004 (123)
11 ABI ss44681161 Mar 14, 2006 (126)
12 KRIBB_YJKIM ss65841081 Nov 29, 2006 (127)
13 PERLEGEN ss68971887 May 17, 2007 (127)
14 ILLUMINA ss75260525 Dec 07, 2007 (129)
15 BGI ss104297085 Dec 01, 2009 (131)
16 GMI ss156750842 Dec 01, 2009 (131)
17 ILLUMINA ss160495891 Dec 01, 2009 (131)
18 COMPLETE_GENOMICS ss166433023 Jul 04, 2010 (132)
19 ILLUMINA ss173079362 Jul 04, 2010 (135)
20 BUSHMAN ss201629324 Jul 04, 2010 (132)
21 1000GENOMES ss222305445 Jul 14, 2010 (137)
22 1000GENOMES ss233400420 Jul 14, 2010 (137)
23 1000GENOMES ss240470934 Jul 15, 2010 (137)
24 GMI ss278728528 May 04, 2012 (137)
25 GMI ss285374574 Apr 25, 2013 (138)
26 PJP ss293826603 May 09, 2011 (137)
27 ILLUMINA ss480403959 May 04, 2012 (137)
28 ILLUMINA ss480417149 May 04, 2012 (137)
29 ILLUMINA ss481198247 Sep 08, 2015 (146)
30 ILLUMINA ss484999588 May 04, 2012 (137)
31 EXOME_CHIP ss491382878 May 04, 2012 (137)
32 ILLUMINA ss537031636 Sep 08, 2015 (146)
33 TISHKOFF ss559116039 Apr 25, 2013 (138)
34 SSMP ss653038185 Apr 25, 2013 (138)
35 ILLUMINA ss778342320 Aug 21, 2014 (142)
36 ILLUMINA ss782946089 Aug 21, 2014 (142)
37 ILLUMINA ss783908565 Aug 21, 2014 (142)
38 ILLUMINA ss832201881 Apr 01, 2015 (144)
39 ILLUMINA ss833796930 Aug 21, 2014 (142)
40 EVA-GONL ss982770510 Aug 21, 2014 (142)
41 JMKIDD_LAB ss1073508223 Aug 21, 2014 (142)
42 1000GENOMES ss1319573119 Aug 21, 2014 (142)
43 EVA_GENOME_DK ss1581608394 Apr 01, 2015 (144)
44 EVA_DECODE ss1592314346 Apr 01, 2015 (144)
45 EVA_UK10K_ALSPAC ss1615285281 Apr 01, 2015 (144)
46 EVA_UK10K_TWINSUK ss1658279314 Apr 01, 2015 (144)
47 ILLUMINA ss1752630226 Sep 08, 2015 (146)
48 ILLUMINA ss1752630227 Sep 08, 2015 (146)
49 HAMMER_LAB ss1804359476 Sep 08, 2015 (146)
50 ILLUMINA ss1917803204 Feb 12, 2016 (147)
51 WEILL_CORNELL_DGM ss1926022449 Feb 12, 2016 (147)
52 ILLUMINA ss1946174250 Feb 12, 2016 (147)
53 GENOMED ss1970358221 Jul 19, 2016 (147)
54 JJLAB ss2023644706 Sep 14, 2016 (149)
55 ILLUMINA ss2094825364 Dec 20, 2016 (150)
56 ILLUMINA ss2095178624 Dec 20, 2016 (150)
57 USC_VALOUEV ss2151811608 Dec 20, 2016 (150)
58 HUMAN_LONGEVITY ss2282973935 Dec 20, 2016 (150)
59 TOPMED ss2451350879 Dec 20, 2016 (150)
60 ILLUMINA ss2634431413 Nov 08, 2017 (151)
61 ILLUMINA ss2634431414 Nov 08, 2017 (151)
62 GRF ss2707405476 Nov 08, 2017 (151)
63 AFFY ss2985363308 Nov 08, 2017 (151)
64 AFFY ss2985995184 Nov 08, 2017 (151)
65 SWEGEN ss2998803603 Nov 08, 2017 (151)
66 ILLUMINA ss3022601393 Nov 08, 2017 (151)
67 BIOINF_KMB_FNS_UNIBA ss3025609175 Nov 08, 2017 (151)
68 TOPMED ss3493947590 Nov 08, 2017 (151)
69 TOPMED ss3493947591 Nov 08, 2017 (151)
70 ILLUMINA ss3629506776 Oct 12, 2018 (152)
71 ILLUMINA ss3632349710 Oct 12, 2018 (152)
72 ILLUMINA ss3633416075 Oct 12, 2018 (152)
73 ILLUMINA ss3634138636 Oct 12, 2018 (152)
74 ILLUMINA ss3635058558 Oct 12, 2018 (152)
75 ILLUMINA ss3635058559 Oct 12, 2018 (152)
76 ILLUMINA ss3635819627 Oct 12, 2018 (152)
77 ILLUMINA ss3637572416 Oct 12, 2018 (152)
78 ILLUMINA ss3638620968 Oct 12, 2018 (152)
79 ILLUMINA ss3640765857 Oct 12, 2018 (152)
80 ILLUMINA ss3640765858 Oct 12, 2018 (152)
81 ILLUMINA ss3643562524 Oct 12, 2018 (152)
82 ILLUMINA ss3644907316 Oct 12, 2018 (152)
83 ILLUMINA ss3653114361 Oct 12, 2018 (152)
84 ILLUMINA ss3653114362 Oct 12, 2018 (152)
85 ILLUMINA ss3654129120 Oct 12, 2018 (152)
86 EGCUT_WGS ss3666717501 Jul 13, 2019 (153)
87 EVA_DECODE ss3716916996 Jul 13, 2019 (153)
88 ILLUMINA ss3726331643 Jul 13, 2019 (153)
89 ACPOP ss3733365409 Jul 13, 2019 (153)
90 ILLUMINA ss3744550737 Jul 13, 2019 (153)
91 ILLUMINA ss3745358544 Jul 13, 2019 (153)
92 ILLUMINA ss3745358545 Jul 13, 2019 (153)
93 EVA ss3764827879 Jul 13, 2019 (153)
94 ILLUMINA ss3772852217 Jul 13, 2019 (153)
95 ILLUMINA ss3772852218 Jul 13, 2019 (153)
96 KHV_HUMAN_GENOMES ss3807982416 Jul 13, 2019 (153)
97 EVA ss3829834890 Apr 26, 2020 (154)
98 SGDP_PRJ ss3864263408 Apr 26, 2020 (154)
99 KRGDB ss3911040531 Apr 26, 2020 (154)
100 EVA ss3984566083 Apr 26, 2021 (155)
101 VINODS ss4025189561 Apr 26, 2021 (155)
102 VINODS ss4025229921 Apr 26, 2021 (155)
103 VINODS ss4025248895 Apr 26, 2021 (155)
104 TOPMED ss4698518433 Apr 26, 2021 (155)
105 TOMMO_GENOMICS ss5176856162 Apr 26, 2021 (155)
106 1000Genomes NC_000006.11 - 32177880 Oct 12, 2018 (152)
107 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 32177880 Oct 12, 2018 (152)
108 Genetic variation in the Estonian population NC_000006.11 - 32177880 Oct 12, 2018 (152)
109 The Danish reference pan genome NC_000006.11 - 32177880 Apr 26, 2020 (154)
110 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 221331552 (NC_000006.12:32210102:C:A 9/140078)
Row 221331553 (NC_000006.12:32210102:C:G 28763/140006)

- Apr 26, 2021 (155)
111 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 221331552 (NC_000006.12:32210102:C:A 9/140078)
Row 221331553 (NC_000006.12:32210102:C:G 28763/140006)

- Apr 26, 2021 (155)
112 Genome of the Netherlands Release 5 NC_000006.11 - 32177880 Apr 26, 2020 (154)
113 HapMap NC_000006.12 - 32210103 Apr 26, 2020 (154)
114 KOREAN population from KRGDB NC_000006.11 - 32177880 Apr 26, 2020 (154)
115 Northern Sweden NC_000006.11 - 32177880 Jul 13, 2019 (153)
116 CNV burdens in cranial meningiomas NC_000006.11 - 32177880 Apr 26, 2021 (155)
117 Qatari NC_000006.11 - 32177880 Apr 26, 2020 (154)
118 SGDP_PRJ NC_000006.11 - 32177880 Apr 26, 2020 (154)
119 Siberian NC_000006.11 - 32177880 Apr 26, 2020 (154)
120 8.3KJPN NC_000006.11 - 32177880 Apr 26, 2021 (155)
121 TopMed NC_000006.12 - 32210103 Apr 26, 2021 (155)
122 UK 10K study - Twins NC_000006.11 - 32177880 Oct 12, 2018 (152)
123 A Vietnamese Genetic Variation Database NC_000006.11 - 32177880 Jul 13, 2019 (153)
124 ALFA NC_000006.12 - 32210103 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)
rs445707 Oct 18, 2000 (87)
rs806092 Oct 18, 2000 (87)
rs6457486 Aug 27, 2003 (117)
rs9469092 May 25, 2008 (130)
rs16869825 Oct 08, 2004 (123)
rs113242573 Sep 17, 2011 (135)
rs115441535 May 04, 2012 (137)
rs117551967 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
18217925, ss3911040531 NC_000006.11:32177879:C:A NC_000006.12:32210102:C:A (self)
14487406245, ss3493947590 NC_000006.12:32210102:C:A NC_000006.12:32210102:C:A (self)
ss160495891, ss166433023, ss201629324, ss278728528, ss285374574, ss293826603, ss480403959, ss1592314346, ss3643562524 NC_000006.10:32285857:C:G NC_000006.12:32210102:C:G (self)
31341117, 17475666, 12455749, 7773333, 7768948, 18217925, 6650274, 115488, 8064379, 16280388, 4327962, 34825469, 17475666, 3875577, ss222305445, ss233400420, ss240470934, ss480417149, ss481198247, ss484999588, ss491382878, ss537031636, ss559116039, ss653038185, ss778342320, ss782946089, ss783908565, ss832201881, ss833796930, ss982770510, ss1073508223, ss1319573119, ss1581608394, ss1615285281, ss1658279314, ss1752630226, ss1752630227, ss1804359476, ss1917803204, ss1926022449, ss1946174250, ss1970358221, ss2023644706, ss2094825364, ss2095178624, ss2151811608, ss2451350879, ss2634431413, ss2634431414, ss2707405476, ss2985363308, ss2985995184, ss2998803603, ss3022601393, ss3629506776, ss3632349710, ss3633416075, ss3634138636, ss3635058558, ss3635058559, ss3635819627, ss3637572416, ss3638620968, ss3640765857, ss3640765858, ss3644907316, ss3653114361, ss3653114362, ss3654129120, ss3666717501, ss3733365409, ss3744550737, ss3745358544, ss3745358545, ss3764827879, ss3772852217, ss3772852218, ss3829834890, ss3864263408, ss3911040531, ss3984566083, ss5176856162 NC_000006.11:32177879:C:G NC_000006.12:32210102:C:G (self)
3101222, 335122377, 535895991, 14487406245, ss2282973935, ss3025609175, ss3493947591, ss3716916996, ss3726331643, ss3807982416, ss4698518433 NC_000006.12:32210102:C:G NC_000006.12:32210102:C:G (self)
ss10273967, ss11773963, ss13097038 NT_007592.13:22999595:C:G NC_000006.12:32210102:C:G (self)
ss270025, ss596313, ss1034431, ss1954849, ss1955200, ss12692227, ss23715095, ss44681161, ss65841081, ss68971887, ss75260525, ss104297085, ss156750842, ss173079362 NT_007592.15:32117879:C:G NC_000006.12:32210102:C:G (self)
ss4025189561 NT_113891.3:3648455:C:G NC_000006.12:32210102:C:G
ss4025229921 NT_167246.2:3515085:C:G NC_000006.12:32210102:C:G
ss4025248895 NT_167247.2:3552126:C:G NC_000006.12:32210102:C:G
18217925, ss3911040531 NC_000006.11:32177879:C:T NC_000006.12:32210102:C:T (self)
Help

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

1 citation for rs206018
PMID Title Author Year Journal
15747258 A high-resolution linkage-disequilibrium map of the human major histocompatibility complex and first generation of tag single-nucleotide polymorphisms. Miretti MM et al. 2005 American journal of human 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.post596+ae089ad