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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.

rs123

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr7:24926827 (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
C=0.411160 (108830/264690, TOPMED)
C=0.496007 (121482/244920, ALFA)
C=0.423116 (59249/140030, GnomAD) (+ 18 more)
C=0.32449 (25536/78696, PAGE_STUDY)
C=0.07919 (1327/16758, 8.3KJPN)
C=0.2921 (1463/5008, 1000G)
C=0.4821 (2160/4480, Estonian)
A=0.4966 (1914/3854, ALSPAC)
C=0.4844 (1796/3708, TWINSUK)
C=0.0881 (258/2930, KOREAN)
C=0.3070 (579/1886, HapMap)
C=0.0922 (169/1832, Korea1K)
A=0.487 (486/998, GoNL)
C=0.115 (91/788, PRJEB37584)
C=0.442 (277/626, Chileans)
C=0.470 (282/600, NorthernSweden)
C=0.226 (108/478, SGDP_PRJ)
A=0.468 (101/216, Qatari)
C=0.061 (13/214, Vietnamese)
C=0.25 (12/48, Siberian)
C=0.47 (19/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
OSBPL3 : 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 7 NC_000007.14:g.24926827C>A
GRCh38.p13 chr 7 NC_000007.14:g.24926827C>G
GRCh38.p13 chr 7 NC_000007.14:g.24926827C>T
GRCh37.p13 chr 7 NC_000007.13:g.24966446C>A
GRCh37.p13 chr 7 NC_000007.13:g.24966446C>G
GRCh37.p13 chr 7 NC_000007.13:g.24966446C>T
Gene: OSBPL3, oxysterol binding protein like 3 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
OSBPL3 transcript variant 1 NM_015550.4:c.-149-34206G…

NM_015550.4:c.-149-34206G>T

N/A Intron Variant
OSBPL3 transcript variant 2 NM_145320.2:c. N/A Genic Upstream Transcript Variant
OSBPL3 transcript variant 3 NM_145321.2:c. N/A Genic Upstream Transcript Variant
OSBPL3 transcript variant 4 NM_145322.2:c. N/A Genic Upstream Transcript Variant
OSBPL3 transcript variant 5 NR_104111.1:n. N/A Genic Upstream Transcript Variant
OSBPL3 transcript variant 6 NR_104112.1:n. N/A Genic Upstream Transcript Variant
OSBPL3 transcript variant X3 XM_006715681.3:c.-149-342…

XM_006715681.3:c.-149-34206G>T

N/A Intron Variant
OSBPL3 transcript variant X4 XM_006715682.3:c.-149-342…

XM_006715682.3:c.-149-34206G>T

N/A Intron Variant
OSBPL3 transcript variant X7 XM_006715683.3:c.-149-342…

XM_006715683.3:c.-149-34206G>T

N/A Intron Variant
OSBPL3 transcript variant X15 XM_006715684.4:c.-1192-34…

XM_006715684.4:c.-1192-34206G>T

N/A Intron Variant
OSBPL3 transcript variant X5 XM_011515259.2:c.-628-342…

XM_011515259.2:c.-628-34206G>T

N/A Intron Variant
OSBPL3 transcript variant X6 XM_017011948.1:c.-491-342…

XM_017011948.1:c.-491-34206G>T

N/A Intron Variant
OSBPL3 transcript variant X8 XM_017011949.1:c.-628-342…

XM_017011949.1:c.-628-34206G>T

N/A Intron Variant
OSBPL3 transcript variant X2 XM_005249698.3:c. N/A Genic Upstream Transcript Variant
OSBPL3 transcript variant X1 XM_011515258.2:c. N/A Genic Upstream Transcript Variant
OSBPL3 transcript variant X13 XR_001744620.1:n. N/A Intron Variant
OSBPL3 transcript variant X9 XR_428073.3:n. N/A Intron Variant
OSBPL3 transcript variant X11 XR_428074.3:n. N/A Intron Variant
OSBPL3 transcript variant X12 XR_428075.3:n. N/A Intron Variant
OSBPL3 transcript variant X10 XR_926927.2:n. N/A Intron Variant
OSBPL3 transcript variant X14 XR_926929.1: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 (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 244920 C=0.496007 A=0.503993
European Sub 218318 C=0.513664 A=0.486336
African Sub 7468 C=0.2961 A=0.7039
African Others Sub 274 C=0.226 A=0.774
African American Sub 7194 C=0.2987 A=0.7013
Asian Sub 3904 C=0.1199 A=0.8801
East Asian Sub 3140 C=0.0955 A=0.9045
Other Asian Sub 764 C=0.220 A=0.780
Latin American 1 Sub 1108 C=0.4549 A=0.5451
Latin American 2 Sub 4666 C=0.4108 A=0.5892
South Asian Sub 378 C=0.317 A=0.683
Other Sub 9078 C=0.4538 A=0.5462


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=0.411160 A=0.588840
gnomAD - Genomes Global Study-wide 140030 C=0.423116 A=0.576884
gnomAD - Genomes European Sub 75848 C=0.50653 A=0.49347
gnomAD - Genomes African Sub 41946 C=0.29726 A=0.70274
gnomAD - Genomes American Sub 13640 C=0.41364 A=0.58636
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.4494 A=0.5506
gnomAD - Genomes East Asian Sub 3122 C=0.0890 A=0.9110
gnomAD - Genomes Other Sub 2152 C=0.4405 A=0.5595
The PAGE Study Global Study-wide 78696 C=0.32449 A=0.67551
The PAGE Study AfricanAmerican Sub 32512 C=0.30355 A=0.69645
The PAGE Study Mexican Sub 10810 C=0.40111 A=0.59889
The PAGE Study Asian Sub 8318 C=0.0779 A=0.9221
The PAGE Study PuertoRican Sub 7918 C=0.4608 A=0.5392
The PAGE Study NativeHawaiian Sub 4534 C=0.2082 A=0.7918
The PAGE Study Cuban Sub 4228 C=0.4943 A=0.5057
The PAGE Study Dominican Sub 3828 C=0.4154 A=0.5846
The PAGE Study CentralAmerican Sub 2450 C=0.3624 A=0.6376
The PAGE Study SouthAmerican Sub 1982 C=0.3718 A=0.6282
The PAGE Study NativeAmerican Sub 1260 C=0.4278 A=0.5722
The PAGE Study SouthAsian Sub 856 C=0.287 A=0.713
8.3KJPN JAPANESE Study-wide 16758 C=0.07919 A=0.92081
1000Genomes Global Study-wide 5008 C=0.2921 A=0.7079
1000Genomes African Sub 1322 C=0.2731 A=0.7269
1000Genomes East Asian Sub 1008 C=0.0962 A=0.9038
1000Genomes Europe Sub 1006 C=0.4881 A=0.5119
1000Genomes South Asian Sub 978 C=0.269 A=0.731
1000Genomes American Sub 694 C=0.362 A=0.638
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.4821 A=0.5179
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.5034 A=0.4966
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.4844 A=0.5156
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.0881 A=0.9119, G=0.0000, T=0.0000
HapMap Global Study-wide 1886 C=0.3070 A=0.6930
HapMap American Sub 770 C=0.314 A=0.686
HapMap African Sub 690 C=0.310 A=0.690
HapMap Asian Sub 250 C=0.096 A=0.904
HapMap Europe Sub 176 C=0.562 A=0.438
Korean Genome Project KOREAN Study-wide 1832 C=0.0922 A=0.9078
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.513 A=0.487
CNV burdens in cranial meningiomas Global Study-wide 788 C=0.115 A=0.885
CNV burdens in cranial meningiomas CRM Sub 788 C=0.115 A=0.885
Chileans Chilean Study-wide 626 C=0.442 A=0.558
Northern Sweden ACPOP Study-wide 600 C=0.470 A=0.530
SGDP_PRJ Global Study-wide 478 C=0.226 A=0.774
Qatari Global Study-wide 216 C=0.532 A=0.468
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.061 A=0.939
Siberian Global Study-wide 48 C=0.25 A=0.75
The Danish reference pan genome Danish Study-wide 40 C=0.47 A=0.53
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 7 NC_000007.14:g.24926827= NC_000007.14:g.24926827C>A NC_000007.14:g.24926827C>G NC_000007.14:g.24926827C>T
GRCh37.p13 chr 7 NC_000007.13:g.24966446= NC_000007.13:g.24966446C>A NC_000007.13:g.24966446C>G NC_000007.13:g.24966446C>T
OSBPL3 transcript variant 1 NM_015550.2:c.-149-34206= NM_015550.2:c.-149-34206G>T NM_015550.2:c.-149-34206G>C NM_015550.2:c.-149-34206G>A
OSBPL3 transcript variant 1 NM_015550.4:c.-149-34206= NM_015550.4:c.-149-34206G>T NM_015550.4:c.-149-34206G>C NM_015550.4:c.-149-34206G>A
OSBPL3 transcript variant 2 NM_145320.1:c.-149-34206= NM_145320.1:c.-149-34206G>T NM_145320.1:c.-149-34206G>C NM_145320.1:c.-149-34206G>A
OSBPL3 transcript variant 3 NM_145321.1:c.-149-34206= NM_145321.1:c.-149-34206G>T NM_145321.1:c.-149-34206G>C NM_145321.1:c.-149-34206G>A
OSBPL3 transcript variant 4 NM_145322.1:c.-149-34206= NM_145322.1:c.-149-34206G>T NM_145322.1:c.-149-34206G>C NM_145322.1:c.-149-34206G>A
OSBPL3 transcript variant X3 XM_006715681.3:c.-149-34206= XM_006715681.3:c.-149-34206G>T XM_006715681.3:c.-149-34206G>C XM_006715681.3:c.-149-34206G>A
OSBPL3 transcript variant X4 XM_006715682.3:c.-149-34206= XM_006715682.3:c.-149-34206G>T XM_006715682.3:c.-149-34206G>C XM_006715682.3:c.-149-34206G>A
OSBPL3 transcript variant X7 XM_006715683.3:c.-149-34206= XM_006715683.3:c.-149-34206G>T XM_006715683.3:c.-149-34206G>C XM_006715683.3:c.-149-34206G>A
OSBPL3 transcript variant X15 XM_006715684.4:c.-1192-34206= XM_006715684.4:c.-1192-34206G>T XM_006715684.4:c.-1192-34206G>C XM_006715684.4:c.-1192-34206G>A
OSBPL3 transcript variant X5 XM_011515259.2:c.-628-34206= XM_011515259.2:c.-628-34206G>T XM_011515259.2:c.-628-34206G>C XM_011515259.2:c.-628-34206G>A
OSBPL3 transcript variant X6 XM_017011948.1:c.-491-34206= XM_017011948.1:c.-491-34206G>T XM_017011948.1:c.-491-34206G>C XM_017011948.1:c.-491-34206G>A
OSBPL3 transcript variant X8 XM_017011949.1:c.-628-34206= XM_017011949.1:c.-628-34206G>T XM_017011949.1:c.-628-34206G>C XM_017011949.1:c.-628-34206G>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#.

103 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss123 Sep 19, 2000 (36)
2 BCM_SSAHASNP ss10358841 Jul 11, 2003 (116)
3 WI_SSAHASNP ss11851055 Jul 11, 2003 (116)
4 CSHL-HAPMAP ss19706522 Feb 27, 2004 (120)
5 SSAHASNP ss22591016 Apr 05, 2004 (121)
6 PERLEGEN ss24269141 Sep 20, 2004 (123)
7 ABI ss43049090 Mar 14, 2006 (126)
8 PERLEGEN ss69009671 May 18, 2007 (127)
9 AFFY ss76625423 Dec 06, 2007 (129)
10 HGSV ss83982381 Dec 14, 2007 (130)
11 BCMHGSC_JDW ss93646269 Mar 24, 2008 (129)
12 BGI ss104410172 Dec 01, 2009 (131)
13 KRIBB_YJKIM ss104807670 Feb 04, 2009 (130)
14 1000GENOMES ss111691263 Jan 25, 2009 (130)
15 1000GENOMES ss113477728 Jan 25, 2009 (130)
16 ILLUMINA-UK ss115987662 Feb 14, 2009 (130)
17 ENSEMBL ss142760457 Dec 01, 2009 (131)
18 GMI ss154529031 Dec 01, 2009 (131)
19 ILLUMINA ss160048448 Dec 01, 2009 (131)
20 COMPLETE_GENOMICS ss163847607 Jul 04, 2010 (132)
21 COMPLETE_GENOMICS ss166295038 Jul 04, 2010 (132)
22 BUSHMAN ss203089439 Jul 04, 2010 (132)
23 1000GENOMES ss222968643 Jul 14, 2010 (132)
24 1000GENOMES ss233894436 Jul 15, 2010 (132)
25 1000GENOMES ss240865975 Jul 15, 2010 (132)
26 BL ss254128138 May 09, 2011 (134)
27 GMI ss279229098 May 04, 2012 (137)
28 GMI ss285592358 Apr 25, 2013 (138)
29 PJP ss294032255 May 09, 2011 (134)
30 ILLUMINA ss479711208 May 04, 2012 (137)
31 ILLUMINA ss479717130 May 04, 2012 (137)
32 ILLUMINA ss480259276 Sep 08, 2015 (146)
33 ILLUMINA ss484654067 May 04, 2012 (137)
34 ILLUMINA ss536770616 Sep 08, 2015 (146)
35 TISHKOFF ss559875705 Apr 25, 2013 (138)
36 SSMP ss654229026 Apr 25, 2013 (138)
37 ILLUMINA ss778403964 Sep 08, 2015 (146)
38 ILLUMINA ss782773891 Sep 08, 2015 (146)
39 ILLUMINA ss783739981 Sep 08, 2015 (146)
40 ILLUMINA ss832026375 Sep 08, 2015 (146)
41 ILLUMINA ss833859165 Sep 08, 2015 (146)
42 EVA-GONL ss984064109 Aug 21, 2014 (142)
43 JMKIDD_LAB ss1074451405 Aug 21, 2014 (142)
44 1000GENOMES ss1324346263 Aug 21, 2014 (142)
45 DDI ss1431061212 Apr 01, 2015 (144)
46 EVA_GENOME_DK ss1582116663 Apr 01, 2015 (144)
47 EVA_DECODE ss1593632975 Apr 01, 2015 (144)
48 EVA_UK10K_ALSPAC ss1617794282 Apr 01, 2015 (144)
49 EVA_UK10K_TWINSUK ss1660788315 Apr 01, 2015 (144)
50 EVA_SVP ss1712939942 Apr 01, 2015 (144)
51 ILLUMINA ss1752679473 Sep 08, 2015 (146)
52 HAMMER_LAB ss1804916812 Sep 08, 2015 (146)
53 WEILL_CORNELL_DGM ss1927309168 Feb 12, 2016 (147)
54 ILLUMINA ss1946204492 Feb 12, 2016 (147)
55 ILLUMINA ss1958996480 Feb 12, 2016 (147)
56 GENOMED ss1970651586 Jul 19, 2016 (147)
57 JJLAB ss2024331661 Sep 14, 2016 (149)
58 USC_VALOUEV ss2152527808 Dec 20, 2016 (150)
59 HUMAN_LONGEVITY ss2292526406 Dec 20, 2016 (150)
60 TOPMED ss2461387166 Dec 20, 2016 (150)
61 SYSTEMSBIOZJU ss2626654784 Nov 08, 2017 (151)
62 ILLUMINA ss2634581275 Nov 08, 2017 (151)
63 GRF ss2708184639 Nov 08, 2017 (151)
64 ILLUMINA ss2711105839 Nov 08, 2017 (151)
65 GNOMAD ss2850929669 Nov 08, 2017 (151)
66 SWEGEN ss3000794189 Nov 08, 2017 (151)
67 ILLUMINA ss3022718086 Nov 08, 2017 (151)
68 BIOINF_KMB_FNS_UNIBA ss3025960127 Nov 08, 2017 (151)
69 CSHL ss3347488282 Nov 08, 2017 (151)
70 TOPMED ss3525174948 Nov 08, 2017 (151)
71 ILLUMINA ss3625924592 Oct 12, 2018 (152)
72 ILLUMINA ss3629774486 Oct 12, 2018 (152)
73 ILLUMINA ss3632490054 Oct 12, 2018 (152)
74 ILLUMINA ss3633456451 Oct 12, 2018 (152)
75 ILLUMINA ss3634181044 Oct 12, 2018 (152)
76 ILLUMINA ss3635112851 Oct 12, 2018 (152)
77 ILLUMINA ss3635861019 Oct 12, 2018 (152)
78 ILLUMINA ss3636843429 Oct 12, 2018 (152)
79 ILLUMINA ss3637613964 Oct 12, 2018 (152)
80 ILLUMINA ss3640820147 Oct 12, 2018 (152)
81 ILLUMINA ss3644937603 Oct 12, 2018 (152)
82 URBANLAB ss3648585794 Oct 12, 2018 (152)
83 ILLUMINA ss3653246309 Oct 12, 2018 (152)
84 EGCUT_WGS ss3668722963 Jul 13, 2019 (153)
85 EVA_DECODE ss3719304480 Jul 13, 2019 (153)
86 ILLUMINA ss3726429340 Jul 13, 2019 (153)
87 ACPOP ss3734451873 Jul 13, 2019 (153)
88 ILLUMINA ss3744286834 Jul 13, 2019 (153)
89 ILLUMINA ss3745412735 Jul 13, 2019 (153)
90 EVA ss3766316824 Jul 13, 2019 (153)
91 PAGE_CC ss3771358357 Jul 13, 2019 (153)
92 ILLUMINA ss3772905916 Jul 13, 2019 (153)
93 KHV_HUMAN_GENOMES ss3809484257 Jul 13, 2019 (153)
94 EVA ss3830470564 Apr 26, 2020 (154)
95 EVA ss3838722552 Apr 26, 2020 (154)
96 EVA ss3844173808 Apr 26, 2020 (154)
97 SGDP_PRJ ss3866853280 Apr 26, 2020 (154)
98 KRGDB ss3913891579 Apr 26, 2020 (154)
99 KOGIC ss3961077713 Apr 26, 2020 (154)
100 EVA ss3984585178 Apr 26, 2021 (155)
101 EVA ss4017326115 Apr 26, 2021 (155)
102 TOPMED ss4739180677 Apr 26, 2021 (155)
103 TOMMO_GENOMICS ss5182269665 Apr 26, 2021 (155)
104 1000Genomes NC_000007.13 - 24966446 Oct 12, 2018 (152)
105 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 24966446 Oct 12, 2018 (152)
106 Chileans NC_000007.13 - 24966446 Apr 26, 2020 (154)
107 Genetic variation in the Estonian population NC_000007.13 - 24966446 Oct 12, 2018 (152)
108 The Danish reference pan genome NC_000007.13 - 24966446 Apr 26, 2020 (154)
109 gnomAD - Genomes NC_000007.14 - 24926827 Apr 26, 2021 (155)
110 Genome of the Netherlands Release 5 NC_000007.13 - 24966446 Apr 26, 2020 (154)
111 HapMap NC_000007.14 - 24926827 Apr 26, 2020 (154)
112 KOREAN population from KRGDB NC_000007.13 - 24966446 Apr 26, 2020 (154)
113 Korean Genome Project NC_000007.14 - 24926827 Apr 26, 2020 (154)
114 Northern Sweden NC_000007.13 - 24966446 Jul 13, 2019 (153)
115 The PAGE Study NC_000007.14 - 24926827 Jul 13, 2019 (153)
116 CNV burdens in cranial meningiomas NC_000007.13 - 24966446 Apr 26, 2021 (155)
117 Qatari NC_000007.13 - 24966446 Apr 26, 2020 (154)
118 SGDP_PRJ NC_000007.13 - 24966446 Apr 26, 2020 (154)
119 Siberian NC_000007.13 - 24966446 Apr 26, 2020 (154)
120 8.3KJPN NC_000007.13 - 24966446 Apr 26, 2021 (155)
121 TopMed NC_000007.14 - 24926827 Apr 26, 2021 (155)
122 UK 10K study - Twins NC_000007.13 - 24966446 Oct 12, 2018 (152)
123 A Vietnamese Genetic Variation Database NC_000007.13 - 24966446 Jul 13, 2019 (153)
124 ALFA NC_000007.14 - 24926827 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)
rs17614680 Oct 08, 2004 (123)
rs57332242 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss83982381 NC_000007.11:24739685:C:A NC_000007.14:24926826:C:A (self)
ss93646269, ss111691263, ss113477728, ss115987662, ss163847607, ss166295038, ss203089439, ss254128138, ss279229098, ss285592358, ss294032255, ss479711208, ss1593632975, ss1712939942 NC_000007.12:24932970:C:A NC_000007.14:24926826:C:A (self)
36288228, 20230203, 404145, 14461211, 8281602, 9019755, 21068973, 7736738, 134599, 9351098, 18870260, 5044162, 40238972, 20230203, 4507602, ss222968643, ss233894436, ss240865975, ss479717130, ss480259276, ss484654067, ss536770616, ss559875705, ss654229026, ss778403964, ss782773891, ss783739981, ss832026375, ss833859165, ss984064109, ss1074451405, ss1324346263, ss1431061212, ss1582116663, ss1617794282, ss1660788315, ss1752679473, ss1804916812, ss1927309168, ss1946204492, ss1958996480, ss1970651586, ss2024331661, ss2152527808, ss2461387166, ss2626654784, ss2634581275, ss2708184639, ss2711105839, ss2850929669, ss3000794189, ss3022718086, ss3347488282, ss3625924592, ss3629774486, ss3632490054, ss3633456451, ss3634181044, ss3635112851, ss3635861019, ss3636843429, ss3637613964, ss3640820147, ss3644937603, ss3653246309, ss3668722963, ss3734451873, ss3744286834, ss3745412735, ss3766316824, ss3772905916, ss3830470564, ss3838722552, ss3866853280, ss3913891579, ss3984585178, ss4017326115, ss5182269665 NC_000007.13:24966445:C:A NC_000007.14:24926826:C:A (self)
255873332, 3358842, 17455714, 579826, 360671411, 576558236, 9963561830, ss2292526406, ss3025960127, ss3525174948, ss3648585794, ss3719304480, ss3726429340, ss3771358357, ss3809484257, ss3844173808, ss3961077713, ss4739180677 NC_000007.14:24926826:C:A NC_000007.14:24926826:C:A (self)
ss10358841, ss11851055 NT_007819.13:24260053:C:A NC_000007.14:24926826:C:A (self)
ss19706522, ss22591016 NT_007819.14:24260053:C:A NC_000007.14:24926826:C:A (self)
ss123, ss24269141, ss43049090, ss69009671, ss76625423, ss104410172, ss104807670, ss142760457, ss154529031, ss160048448 NT_007819.17:24956445:C:A NC_000007.14:24926826:C:A (self)
21068973, ss3913891579 NC_000007.13:24966445:C:G NC_000007.14:24926826:C:G (self)
21068973, ss3913891579 NC_000007.13:24966445:C:T NC_000007.14:24926826: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 rs123
PMID Title Author Year Journal
20463881 Digital quantification of human eye color highlights genetic association of three new loci. Liu F et al. 2010 PLoS 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