Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs4018608

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:1268558 (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
T>A / T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.174208 (46111/264690, TOPMED)
C=0.043373 (7588/174948, ALFA)
C=0.141864 (19876/140106, GnomAD) (+ 20 more)
C=0.32689 (25667/78518, PAGE_STUDY)
T=0.32777 (9262/28258, 14KJPN)
T=0.32542 (5454/16760, 8.3KJPN)
C=0.3212 (2057/6404, 1000G_30x)
C=0.3275 (1640/5008, 1000G)
C=0.0379 (170/4480, Estonian)
C=0.0319 (123/3854, ALSPAC)
C=0.0254 (94/3708, TWINSUK)
T=0.4092 (1198/2928, KOREAN)
C=0.2898 (543/1874, HapMap)
T=0.4039 (740/1832, Korea1K)
C=0.020 (20/998, GoNL)
T=0.479 (363/758, PRJEB37584)
C=0.058 (35/600, NorthernSweden)
T=0.312 (86/276, SGDP_PRJ)
C=0.125 (27/216, Qatari)
T=0.307 (65/212, Vietnamese)
C=0.05 (2/40, GENOME_DK)
T=0.5 (5/10, Siberian)
C=0.5 (5/10, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
UBE2J2 : Intron Variant
Publications
0 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 174948 T=0.956627 A=0.000000, C=0.043373, G=0.000000
European Sub 159356 T=0.970180 A=0.000000, C=0.029820, G=0.000000
African Sub 5422 T=0.8276 A=0.0000, C=0.1724, G=0.0000
African Others Sub 190 T=0.774 A=0.000, C=0.226, G=0.000
African American Sub 5232 T=0.8295 A=0.0000, C=0.1705, G=0.0000
Asian Sub 598 T=0.385 A=0.000, C=0.615, G=0.000
East Asian Sub 486 T=0.372 A=0.000, C=0.628, G=0.000
Other Asian Sub 112 T=0.438 A=0.000, C=0.562, G=0.000
Latin American 1 Sub 634 T=0.868 A=0.000, C=0.132, G=0.000
Latin American 2 Sub 1828 T=0.6679 A=0.0000, C=0.3321, G=0.0000
South Asian Sub 140 T=0.764 A=0.000, C=0.236, G=0.000
Other Sub 6970 T=0.8839 A=0.0000, C=0.1161, G=0.0000


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 T=0.825792 C=0.174208
Allele Frequency Aggregator Total Global 174948 T=0.956627 A=0.000000, C=0.043373, G=0.000000
Allele Frequency Aggregator European Sub 159356 T=0.970180 A=0.000000, C=0.029820, G=0.000000
Allele Frequency Aggregator Other Sub 6970 T=0.8839 A=0.0000, C=0.1161, G=0.0000
Allele Frequency Aggregator African Sub 5422 T=0.8276 A=0.0000, C=0.1724, G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 1828 T=0.6679 A=0.0000, C=0.3321, G=0.0000
Allele Frequency Aggregator Latin American 1 Sub 634 T=0.868 A=0.000, C=0.132, G=0.000
Allele Frequency Aggregator Asian Sub 598 T=0.385 A=0.000, C=0.615, G=0.000
Allele Frequency Aggregator South Asian Sub 140 T=0.764 A=0.000, C=0.236, G=0.000
gnomAD - Genomes Global Study-wide 140106 T=0.858136 C=0.141864
gnomAD - Genomes European Sub 75912 T=0.96520 C=0.03480
gnomAD - Genomes African Sub 41960 T=0.75086 C=0.24914
gnomAD - Genomes American Sub 13634 T=0.67874 C=0.32126
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.9473 C=0.0527
gnomAD - Genomes East Asian Sub 3126 T=0.3973 C=0.6027
gnomAD - Genomes Other Sub 2152 T=0.8415 C=0.1585
The PAGE Study Global Study-wide 78518 T=0.67311 C=0.32689
The PAGE Study AfricanAmerican Sub 32402 T=0.75751 C=0.24249
The PAGE Study Mexican Sub 10800 T=0.56935 C=0.43065
The PAGE Study Asian Sub 8306 T=0.3367 C=0.6633
The PAGE Study PuertoRican Sub 7900 T=0.8020 C=0.1980
The PAGE Study NativeHawaiian Sub 4518 T=0.4683 C=0.5317
The PAGE Study Cuban Sub 4226 T=0.8942 C=0.1058
The PAGE Study Dominican Sub 3826 T=0.7959 C=0.2041
The PAGE Study CentralAmerican Sub 2446 T=0.5593 C=0.4407
The PAGE Study SouthAmerican Sub 1980 T=0.5838 C=0.4162
The PAGE Study NativeAmerican Sub 1260 T=0.7857 C=0.2143
The PAGE Study SouthAsian Sub 854 T=0.667 C=0.333
14KJPN JAPANESE Study-wide 28258 T=0.32777 C=0.67223
8.3KJPN JAPANESE Study-wide 16760 T=0.32542 C=0.67458
1000Genomes_30x Global Study-wide 6404 T=0.6788 C=0.3212
1000Genomes_30x African Sub 1786 T=0.7296 C=0.2704
1000Genomes_30x Europe Sub 1266 T=0.9668 C=0.0332
1000Genomes_30x South Asian Sub 1202 T=0.6531 C=0.3469
1000Genomes_30x East Asian Sub 1170 T=0.3402 C=0.6598
1000Genomes_30x American Sub 980 T=0.650 C=0.350
1000Genomes Global Study-wide 5008 T=0.6725 C=0.3275
1000Genomes African Sub 1322 T=0.7284 C=0.2716
1000Genomes East Asian Sub 1008 T=0.3343 C=0.6657
1000Genomes Europe Sub 1006 T=0.9652 C=0.0348
1000Genomes South Asian Sub 978 T=0.661 C=0.339
1000Genomes American Sub 694 T=0.650 C=0.350
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.9621 C=0.0379
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.9681 C=0.0319
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.9746 C=0.0254
KOREAN population from KRGDB KOREAN Study-wide 2928 T=0.4092 A=0.0000, C=0.5908
HapMap Global Study-wide 1874 T=0.7102 C=0.2898
HapMap American Sub 762 T=0.703 C=0.297
HapMap African Sub 686 T=0.790 C=0.210
HapMap Asian Sub 250 T=0.320 C=0.680
HapMap Europe Sub 176 T=0.983 C=0.017
Korean Genome Project KOREAN Study-wide 1832 T=0.4039 C=0.5961
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.980 C=0.020
CNV burdens in cranial meningiomas Global Study-wide 758 T=0.479 C=0.521
CNV burdens in cranial meningiomas CRM Sub 758 T=0.479 C=0.521
Northern Sweden ACPOP Study-wide 600 T=0.942 C=0.058
SGDP_PRJ Global Study-wide 276 T=0.312 C=0.688
Qatari Global Study-wide 216 T=0.875 C=0.125
A Vietnamese Genetic Variation Database Global Study-wide 212 T=0.307 C=0.693
The Danish reference pan genome Danish Study-wide 40 T=0.95 C=0.05
Siberian Global Study-wide 10 T=0.5 C=0.5
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 1 NC_000001.11:g.1268558T>A
GRCh38.p14 chr 1 NC_000001.11:g.1268558T>C
GRCh38.p14 chr 1 NC_000001.11:g.1268558T>G
GRCh37.p13 chr 1 NC_000001.10:g.1203938T>A
GRCh37.p13 chr 1 NC_000001.10:g.1203938T>C
GRCh37.p13 chr 1 NC_000001.10:g.1203938T>G
Gene: UBE2J2, ubiquitin conjugating enzyme E2 J2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
UBE2J2 transcript variant 2 NM_058167.3:c.1-566A>T N/A Intron Variant
UBE2J2 transcript variant 1 NM_194315.2:c.1-566A>T N/A Intron Variant
UBE2J2 transcript variant 4 NM_194457.2:c.-26+5108A>T N/A Intron Variant
UBE2J2 transcript variant 3 NM_194458.2:c.-285-566A>T N/A Intron Variant
UBE2J2 transcript variant X2 XM_005244718.4:c.1-566A>T N/A Intron Variant
UBE2J2 transcript variant X4 XM_005244719.5:c.1-566A>T N/A Intron Variant
UBE2J2 transcript variant X3 XM_006710333.4:c.1-566A>T N/A Intron Variant
UBE2J2 transcript variant X5 XM_011540614.3:c.1-566A>T N/A Intron Variant
UBE2J2 transcript variant X8 XM_047444339.1:c.-148+510…

XM_047444339.1:c.-148+5108A>T

 		N/A Intron Variant
UBE2J2 transcript variant X6 XM_011540613.4:c. N/A Genic Upstream Transcript Variant
UBE2J2 transcript variant X7 XM_017000239.3:c. N/A Genic Upstream Transcript Variant
UBE2J2 transcript variant X1 XM_047444326.1:c. N/A Genic Upstream Transcript Variant
UBE2J2 transcript variant X9 XM_047444356.1:c. N/A Genic Upstream Transcript Variant
UBE2J2 transcript variant X10 XM_047444358.1:c. N/A Genic Upstream 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.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement T= A C G
GRCh38.p14 chr 1 NC_000001.11:g.1268558= NC_000001.11:g.1268558T>A NC_000001.11:g.1268558T>C NC_000001.11:g.1268558T>G
GRCh37.p13 chr 1 NC_000001.10:g.1203938= NC_000001.10:g.1203938T>A NC_000001.10:g.1203938T>C NC_000001.10:g.1203938T>G
UBE2J2 transcript variant 2 NM_058167.2:c.1-566= NM_058167.2:c.1-566A>T NM_058167.2:c.1-566A>G NM_058167.2:c.1-566A>C
UBE2J2 transcript variant 2 NM_058167.3:c.1-566= NM_058167.3:c.1-566A>T NM_058167.3:c.1-566A>G NM_058167.3:c.1-566A>C
UBE2J2 transcript variant 1 NM_194315.1:c.1-566= NM_194315.1:c.1-566A>T NM_194315.1:c.1-566A>G NM_194315.1:c.1-566A>C
UBE2J2 transcript variant 1 NM_194315.2:c.1-566= NM_194315.2:c.1-566A>T NM_194315.2:c.1-566A>G NM_194315.2:c.1-566A>C
UBE2J2 transcript variant 4 NM_194457.1:c.-26+5108= NM_194457.1:c.-26+5108A>T NM_194457.1:c.-26+5108A>G NM_194457.1:c.-26+5108A>C
UBE2J2 transcript variant 4 NM_194457.2:c.-26+5108= NM_194457.2:c.-26+5108A>T NM_194457.2:c.-26+5108A>G NM_194457.2:c.-26+5108A>C
UBE2J2 transcript variant 3 NM_194458.1:c.-285-566= NM_194458.1:c.-285-566A>T NM_194458.1:c.-285-566A>G NM_194458.1:c.-285-566A>C
UBE2J2 transcript variant 3 NM_194458.2:c.-285-566= NM_194458.2:c.-285-566A>T NM_194458.2:c.-285-566A>G NM_194458.2:c.-285-566A>C
UBE2J2 transcript variant X1 XM_005244718.1:c.1-566= XM_005244718.1:c.1-566A>T XM_005244718.1:c.1-566A>G XM_005244718.1:c.1-566A>C
UBE2J2 transcript variant X2 XM_005244718.4:c.1-566= XM_005244718.4:c.1-566A>T XM_005244718.4:c.1-566A>G XM_005244718.4:c.1-566A>C
UBE2J2 transcript variant X2 XM_005244719.1:c.1-566= XM_005244719.1:c.1-566A>T XM_005244719.1:c.1-566A>G XM_005244719.1:c.1-566A>C
UBE2J2 transcript variant X4 XM_005244719.5:c.1-566= XM_005244719.5:c.1-566A>T XM_005244719.5:c.1-566A>G XM_005244719.5:c.1-566A>C
UBE2J2 transcript variant X3 XM_006710333.4:c.1-566= XM_006710333.4:c.1-566A>T XM_006710333.4:c.1-566A>G XM_006710333.4:c.1-566A>C
UBE2J2 transcript variant X5 XM_011540614.3:c.1-566= XM_011540614.3:c.1-566A>T XM_011540614.3:c.1-566A>G XM_011540614.3:c.1-566A>C
UBE2J2 transcript variant X8 XM_047444339.1:c.-148+5108= XM_047444339.1:c.-148+5108A>T XM_047444339.1:c.-148+5108A>G XM_047444339.1:c.-148+5108A>C
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

108 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss5358175 Oct 10, 2002 (108)
2 SC_JCM ss5959105 Feb 20, 2003 (111)
3 PERLEGEN ss23837623 Sep 20, 2004 (123)
4 ABI ss43814640 Mar 13, 2006 (126)
5 PERLEGEN ss68756329 May 17, 2007 (127)
6 AFFY ss74815405 Aug 16, 2007 (128)
7 ILLUMINA ss75150260 Dec 06, 2007 (129)
8 HGSV ss79012065 Dec 06, 2007 (129)
9 BGI ss105112277 Dec 01, 2009 (131)
10 ILLUMINA-UK ss118440765 Feb 14, 2009 (130)
11 KRIBB_YJKIM ss119469457 Dec 01, 2009 (131)
12 GMI ss154529066 Dec 01, 2009 (131)
13 ILLUMINA ss160657963 Dec 01, 2009 (131)
14 ILLUMINA ss173680170 Jul 04, 2010 (132)
15 BUSHMAN ss197890914 Jul 04, 2010 (132)
16 1000GENOMES ss218192704 Jul 14, 2010 (132)
17 1000GENOMES ss230396970 Jul 14, 2010 (132)
18 1000GENOMES ss238116416 Jul 15, 2010 (132)
19 ILLUMINA ss244298631 Jul 04, 2010 (132)
20 GMI ss275682853 May 04, 2012 (137)
21 PJP ss290494490 May 09, 2011 (134)
22 ILLUMINA ss480882606 May 04, 2012 (137)
23 ILLUMINA ss480901431 May 04, 2012 (137)
24 ILLUMINA ss481846446 Sep 08, 2015 (146)
25 ILLUMINA ss485236412 May 04, 2012 (137)
26 ILLUMINA ss537212103 Sep 08, 2015 (146)
27 TISHKOFF ss553715496 Apr 25, 2013 (138)
28 SSMP ss647519518 Apr 25, 2013 (138)
29 ILLUMINA ss778901573 Sep 08, 2015 (146)
30 ILLUMINA ss783064131 Sep 08, 2015 (146)
31 ILLUMINA ss784022140 Sep 08, 2015 (146)
32 ILLUMINA ss832322149 Sep 08, 2015 (146)
33 ILLUMINA ss834362831 Sep 08, 2015 (146)
34 EVA-GONL ss974773532 Aug 21, 2014 (142)
35 JMKIDD_LAB ss1067614519 Aug 21, 2014 (142)
36 1000GENOMES ss1289356615 Aug 21, 2014 (142)
37 DDI ss1425686110 Apr 01, 2015 (144)
38 EVA_GENOME_DK ss1573852586 Apr 01, 2015 (144)
39 EVA_DECODE ss1584133469 Apr 01, 2015 (144)
40 EVA_UK10K_ALSPAC ss1599385391 Apr 01, 2015 (144)
41 EVA_UK10K_TWINSUK ss1642379424 Apr 01, 2015 (144)
42 EVA_SVP ss1712305613 Apr 01, 2015 (144)
43 ILLUMINA ss1751867261 Sep 08, 2015 (146)
44 HAMMER_LAB ss1793720373 Sep 08, 2015 (146)
45 WEILL_CORNELL_DGM ss1917965803 Feb 12, 2016 (147)
46 ILLUMINA ss1945981897 Feb 12, 2016 (147)
47 ILLUMINA ss1958231130 Feb 12, 2016 (147)
48 GENOMED ss1966667909 Jul 19, 2016 (147)
49 JJLAB ss2019500667 Sep 14, 2016 (149)
50 USC_VALOUEV ss2147487691 Dec 20, 2016 (150)
51 HUMAN_LONGEVITY ss2159398922 Dec 20, 2016 (150)
52 SYSTEMSBIOZJU ss2624265976 Nov 08, 2017 (151)
53 ILLUMINA ss2632465922 Nov 08, 2017 (151)
54 GRF ss2697378417 Nov 08, 2017 (151)
55 ILLUMINA ss2710663601 Nov 08, 2017 (151)
56 GNOMAD ss2750689519 Nov 08, 2017 (151)
57 SWEGEN ss2986156951 Nov 08, 2017 (151)
58 ILLUMINA ss3021044088 Nov 08, 2017 (151)
59 CSHL ss3343275177 Nov 08, 2017 (151)
60 ILLUMINA ss3625523530 Oct 11, 2018 (152)
61 ILLUMINA ss3626007412 Oct 11, 2018 (152)
62 ILLUMINA ss3630505907 Oct 11, 2018 (152)
63 ILLUMINA ss3633571523 Oct 11, 2018 (152)
64 ILLUMINA ss3634302188 Oct 11, 2018 (152)
65 ILLUMINA ss3635265726 Oct 11, 2018 (152)
66 ILLUMINA ss3635978791 Oct 11, 2018 (152)
67 ILLUMINA ss3637016066 Oct 11, 2018 (152)
68 ILLUMINA ss3637732592 Oct 11, 2018 (152)
69 ILLUMINA ss3640009554 Oct 11, 2018 (152)
70 ILLUMINA ss3640973200 Oct 11, 2018 (152)
71 ILLUMINA ss3641267015 Oct 11, 2018 (152)
72 ILLUMINA ss3642746865 Oct 11, 2018 (152)
73 ILLUMINA ss3644477761 Oct 11, 2018 (152)
74 ILLUMINA ss3651366148 Oct 11, 2018 (152)
75 EGCUT_WGS ss3654268100 Jul 12, 2019 (153)
76 EVA_DECODE ss3686001242 Jul 12, 2019 (153)
77 ILLUMINA ss3724988644 Jul 12, 2019 (153)
78 ACPOP ss3726720092 Jul 12, 2019 (153)
79 ILLUMINA ss3744040790 Jul 12, 2019 (153)
80 ILLUMINA ss3744603119 Jul 12, 2019 (153)
81 EVA ss3745726163 Jul 12, 2019 (153)
82 PAGE_CC ss3770778973 Jul 12, 2019 (153)
83 ILLUMINA ss3772104872 Jul 12, 2019 (153)
84 KHV_HUMAN_GENOMES ss3798748873 Jul 12, 2019 (153)
85 EVA ss3825983387 Apr 25, 2020 (154)
86 SGDP_PRJ ss3848008120 Apr 25, 2020 (154)
87 KRGDB ss3892851358 Apr 25, 2020 (154)
88 KOGIC ss3943639817 Apr 25, 2020 (154)
89 EVA ss3984450783 Apr 25, 2021 (155)
90 EVA ss4016889187 Apr 25, 2021 (155)
91 TOPMED ss4436567920 Apr 25, 2021 (155)
92 TOMMO_GENOMICS ss5142074551 Apr 25, 2021 (155)
93 1000G_HIGH_COVERAGE ss5240879344 Oct 12, 2022 (156)
94 EVA ss5314586138 Oct 12, 2022 (156)
95 EVA ss5316209643 Oct 12, 2022 (156)
96 HUGCELL_USP ss5442125109 Oct 12, 2022 (156)
97 1000G_HIGH_COVERAGE ss5512510339 Oct 12, 2022 (156)
98 SANFORD_IMAGENETICS ss5624193921 Oct 12, 2022 (156)
99 SANFORD_IMAGENETICS ss5624758598 Oct 12, 2022 (156)
100 TOMMO_GENOMICS ss5666221706 Oct 12, 2022 (156)
101 YY_MCH ss5800247695 Oct 12, 2022 (156)
102 EVA ss5831425397 Oct 12, 2022 (156)
103 EVA ss5847150798 Oct 12, 2022 (156)
104 EVA ss5847521577 Oct 12, 2022 (156)
105 EVA ss5848750346 Oct 12, 2022 (156)
106 EVA ss5906721060 Oct 12, 2022 (156)
107 EVA ss5936590596 Oct 12, 2022 (156)
108 EVA ss5979259939 Oct 12, 2022 (156)
109 1000Genomes NC_000001.10 - 1203938 Oct 11, 2018 (152)
110 1000Genomes_30x NC_000001.11 - 1268558 Oct 12, 2022 (156)
111 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 1203938 Oct 11, 2018 (152)
112 Genetic variation in the Estonian population NC_000001.10 - 1203938 Oct 11, 2018 (152)
113 The Danish reference pan genome NC_000001.10 - 1203938 Apr 25, 2020 (154)
114 gnomAD - Genomes NC_000001.11 - 1268558 Apr 25, 2021 (155)
115 Genome of the Netherlands Release 5 NC_000001.10 - 1203938 Apr 25, 2020 (154)
116 HapMap NC_000001.11 - 1268558 Apr 25, 2020 (154)
117 KOREAN population from KRGDB NC_000001.10 - 1203938 Apr 25, 2020 (154)
118 Korean Genome Project NC_000001.11 - 1268558 Apr 25, 2020 (154)
119 Northern Sweden NC_000001.10 - 1203938 Jul 12, 2019 (153)
120 The PAGE Study NC_000001.11 - 1268558 Jul 12, 2019 (153)
121 CNV burdens in cranial meningiomas NC_000001.10 - 1203938 Apr 25, 2021 (155)
122 Qatari NC_000001.10 - 1203938 Apr 25, 2020 (154)
123 SGDP_PRJ NC_000001.10 - 1203938 Apr 25, 2020 (154)
124 Siberian NC_000001.10 - 1203938 Apr 25, 2020 (154)
125 8.3KJPN NC_000001.10 - 1203938 Apr 25, 2021 (155)
126 14KJPN NC_000001.11 - 1268558 Oct 12, 2022 (156)
127 TopMed NC_000001.11 - 1268558 Apr 25, 2021 (155)
128 UK 10K study - Twins NC_000001.10 - 1203938 Oct 11, 2018 (152)
129 A Vietnamese Genetic Variation Database NC_000001.10 - 1203938 Jul 12, 2019 (153)
130 ALFA NC_000001.11 - 1268558 Apr 25, 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)
rs52795747 Sep 21, 2007 (128)
rs386590216 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
28752, ss3892851358 NC_000001.10:1203937:T:A NC_000001.11:1268557:T:A (self)
7583059248 NC_000001.11:1268557:T:A NC_000001.11:1268557:T:A (self)
ss79012065 NC_000001.8:1243860:T:C NC_000001.11:1268557:T:C (self)
ss118440765, ss197890914, ss275682853, ss290494490, ss480882606, ss1584133469, ss1712305613, ss3642746865 NC_000001.9:1193800:T:C NC_000001.11:1268557:T:C (self)
21912, 7962, 6348, 1359820, 3350, 28752, 4957, 82, 7733, 25100, 4045, 43858, 7962, 1731, ss218192704, ss230396970, ss238116416, ss480901431, ss481846446, ss485236412, ss537212103, ss553715496, ss647519518, ss778901573, ss783064131, ss784022140, ss832322149, ss834362831, ss974773532, ss1067614519, ss1289356615, ss1425686110, ss1573852586, ss1599385391, ss1642379424, ss1751867261, ss1793720373, ss1917965803, ss1945981897, ss1958231130, ss1966667909, ss2019500667, ss2147487691, ss2624265976, ss2632465922, ss2697378417, ss2710663601, ss2750689519, ss2986156951, ss3021044088, ss3343275177, ss3625523530, ss3626007412, ss3630505907, ss3633571523, ss3634302188, ss3635265726, ss3635978791, ss3637016066, ss3637732592, ss3640009554, ss3640973200, ss3641267015, ss3644477761, ss3651366148, ss3654268100, ss3726720092, ss3744040790, ss3744603119, ss3745726163, ss3772104872, ss3825983387, ss3848008120, ss3892851358, ss3984450783, ss4016889187, ss5142074551, ss5314586138, ss5316209643, ss5624193921, ss5624758598, ss5831425397, ss5847150798, ss5847521577, ss5936590596, ss5979259939 NC_000001.10:1203937:T:C NC_000001.11:1268557:T:C (self)
36274, 182878, 348, 17818, 442, 58810, 174255, 7583059248, ss2159398922, ss3686001242, ss3724988644, ss3770778973, ss3798748873, ss3943639817, ss4436567920, ss5240879344, ss5442125109, ss5512510339, ss5666221706, ss5800247695, ss5848750346, ss5906721060 NC_000001.11:1268557:T:C NC_000001.11:1268557:T:C (self)
ss5358175, ss5959105, ss23837623, ss43814640, ss68756329, ss74815405, ss75150260, ss105112277, ss119469457, ss154529066, ss160657963, ss173680170, ss244298631 NT_004350.19:682569:T:C NC_000001.11:1268557:T:C (self)
7583059248 NC_000001.11:1268557:T:G NC_000001.11:1268557:T:G (self)
Help

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

No publications for rs4018608

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.post761+d5e8e07