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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.

rs136

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr7:24896479 (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>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.266387 (74096/278152, ALFA)
T=0.260527 (68959/264690, TOPMED)
T=0.260051 (36417/140038, GnomAD) (+ 19 more)
T=0.26936 (21199/78702, PAGE_STUDY)
T=0.35297 (5915/16758, 8.3KJPN)
T=0.3057 (1531/5008, 1000G)
T=0.2730 (1223/4480, Estonian)
T=0.2740 (1056/3854, ALSPAC)
T=0.2791 (1035/3708, TWINSUK)
T=0.3188 (934/2930, KOREAN)
T=0.2845 (593/2084, HGDP_Stanford)
T=0.2698 (510/1890, HapMap)
T=0.271 (270/998, GoNL)
T=0.367 (286/780, PRJEB37584)
T=0.294 (184/626, Chileans)
T=0.290 (174/600, NorthernSweden)
C=0.410 (114/278, SGDP_PRJ)
T=0.176 (38/216, Qatari)
T=0.357 (75/210, Vietnamese)
T=0.15 (10/66, Ancient Sardinia)
T=0.30 (12/40, GENOME_DK)
C=0.39 (11/28, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
OSBPL3 : Intron Variant
Publications
0 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 7 NC_000007.14:g.24896479C>G
GRCh38.p13 chr 7 NC_000007.14:g.24896479C>T
GRCh37.p13 chr 7 NC_000007.13:g.24936098C>G
GRCh37.p13 chr 7 NC_000007.13:g.24936098C>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.-149-3858G>C 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 X2 XM_005249698.3:c.-149-385…

XM_005249698.3:c.-149-3858G>C

N/A Intron Variant
OSBPL3 transcript variant X3 XM_006715681.3:c.-149-385…

XM_006715681.3:c.-149-3858G>C

N/A Intron Variant
OSBPL3 transcript variant X4 XM_006715682.3:c.-149-385…

XM_006715682.3:c.-149-3858G>C

N/A Intron Variant
OSBPL3 transcript variant X7 XM_006715683.3:c.-149-385…

XM_006715683.3:c.-149-3858G>C

N/A Intron Variant
OSBPL3 transcript variant X15 XM_006715684.4:c.-1192-38…

XM_006715684.4:c.-1192-3858G>C

N/A Intron Variant
OSBPL3 transcript variant X1 XM_011515258.2:c.-149-385…

XM_011515258.2:c.-149-3858G>C

N/A Intron Variant
OSBPL3 transcript variant X5 XM_011515259.2:c.-628-385…

XM_011515259.2:c.-628-3858G>C

N/A Intron Variant
OSBPL3 transcript variant X6 XM_017011948.1:c.-491-385…

XM_017011948.1:c.-491-3858G>C

N/A Intron Variant
OSBPL3 transcript variant X8 XM_017011949.1:c.-628-385…

XM_017011949.1:c.-628-3858G>C

N/A Intron 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
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 278152 C=0.733613 T=0.266387
European Sub 249204 C=0.735891 T=0.264109
African Sub 7064 C=0.7889 T=0.2111
African Others Sub 264 C=0.811 T=0.189
African American Sub 6800 C=0.7881 T=0.2119
Asian Sub 3650 C=0.6477 T=0.3523
East Asian Sub 2912 C=0.6566 T=0.3434
Other Asian Sub 738 C=0.612 T=0.388
Latin American 1 Sub 852 C=0.775 T=0.225
Latin American 2 Sub 5078 C=0.7085 T=0.2915
South Asian Sub 5170 C=0.6362 T=0.3638
Other Sub 7134 C=0.7268 T=0.2732


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=0.739473 T=0.260527
gnomAD - Genomes Global Study-wide 140038 C=0.739949 T=0.260051
gnomAD - Genomes European Sub 75834 C=0.73153 T=0.26847
gnomAD - Genomes African Sub 41956 C=0.78530 T=0.21470
gnomAD - Genomes American Sub 13646 C=0.69031 T=0.30969
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=0.6649 T=0.3351
gnomAD - Genomes East Asian Sub 3128 C=0.6221 T=0.3779
gnomAD - Genomes Other Sub 2150 C=0.7544 T=0.2456
The PAGE Study Global Study-wide 78702 C=0.73064 T=0.26936
The PAGE Study AfricanAmerican Sub 32516 C=0.78312 T=0.21688
The PAGE Study Mexican Sub 10810 C=0.68881 T=0.31119
The PAGE Study Asian Sub 8318 C=0.6213 T=0.3787
The PAGE Study PuertoRican Sub 7918 C=0.7752 T=0.2248
The PAGE Study NativeHawaiian Sub 4534 C=0.5933 T=0.4067
The PAGE Study Cuban Sub 4230 C=0.7624 T=0.2376
The PAGE Study Dominican Sub 3828 C=0.7628 T=0.2372
The PAGE Study CentralAmerican Sub 2450 C=0.6673 T=0.3327
The PAGE Study SouthAmerican Sub 1982 C=0.6650 T=0.3350
The PAGE Study NativeAmerican Sub 1260 C=0.7587 T=0.2413
The PAGE Study SouthAsian Sub 856 C=0.634 T=0.366
8.3KJPN JAPANESE Study-wide 16758 C=0.64703 T=0.35297
1000Genomes Global Study-wide 5008 C=0.6943 T=0.3057
1000Genomes African Sub 1322 C=0.7935 T=0.2065
1000Genomes East Asian Sub 1008 C=0.5933 T=0.4067
1000Genomes Europe Sub 1006 C=0.7207 T=0.2793
1000Genomes South Asian Sub 978 C=0.646 T=0.354
1000Genomes American Sub 694 C=0.682 T=0.318
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.7270 T=0.2730
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.7260 T=0.2740
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.7209 T=0.2791
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.6812 G=0.0000, T=0.3188
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.7155 T=0.2845
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.600 T=0.400
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.676 T=0.324
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.777 T=0.223
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.791 T=0.209
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.864 T=0.136
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.671 T=0.329
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.69 T=0.31
HapMap Global Study-wide 1890 C=0.7302 T=0.2698
HapMap American Sub 768 C=0.676 T=0.324
HapMap African Sub 692 C=0.822 T=0.178
HapMap Asian Sub 254 C=0.602 T=0.398
HapMap Europe Sub 176 C=0.790 T=0.210
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.729 T=0.271
CNV burdens in cranial meningiomas Global Study-wide 780 C=0.633 T=0.367
CNV burdens in cranial meningiomas CRM Sub 780 C=0.633 T=0.367
Chileans Chilean Study-wide 626 C=0.706 T=0.294
Northern Sweden ACPOP Study-wide 600 C=0.710 T=0.290
SGDP_PRJ Global Study-wide 278 C=0.410 T=0.590
Qatari Global Study-wide 216 C=0.824 T=0.176
A Vietnamese Genetic Variation Database Global Study-wide 210 C=0.643 T=0.357
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 66 C=0.85 T=0.15
The Danish reference pan genome Danish Study-wide 40 C=0.70 T=0.30
Siberian Global Study-wide 28 C=0.39 T=0.61
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= G T
GRCh38.p13 chr 7 NC_000007.14:g.24896479= NC_000007.14:g.24896479C>G NC_000007.14:g.24896479C>T
GRCh37.p13 chr 7 NC_000007.13:g.24936098= NC_000007.13:g.24936098C>G NC_000007.13:g.24936098C>T
OSBPL3 transcript variant 1 NM_015550.2:c.-149-3858= NM_015550.2:c.-149-3858G>C NM_015550.2:c.-149-3858G>A
OSBPL3 transcript variant 1 NM_015550.4:c.-149-3858= NM_015550.4:c.-149-3858G>C NM_015550.4:c.-149-3858G>A
OSBPL3 transcript variant 2 NM_145320.1:c.-149-3858= NM_145320.1:c.-149-3858G>C NM_145320.1:c.-149-3858G>A
OSBPL3 transcript variant 3 NM_145321.1:c.-149-3858= NM_145321.1:c.-149-3858G>C NM_145321.1:c.-149-3858G>A
OSBPL3 transcript variant 4 NM_145322.1:c.-149-3858= NM_145322.1:c.-149-3858G>C NM_145322.1:c.-149-3858G>A
OSBPL3 transcript variant X1 XM_005249698.1:c.-149-3858= XM_005249698.1:c.-149-3858G>C XM_005249698.1:c.-149-3858G>A
OSBPL3 transcript variant X2 XM_005249698.3:c.-149-3858= XM_005249698.3:c.-149-3858G>C XM_005249698.3:c.-149-3858G>A
OSBPL3 transcript variant X3 XM_006715681.3:c.-149-3858= XM_006715681.3:c.-149-3858G>C XM_006715681.3:c.-149-3858G>A
OSBPL3 transcript variant X4 XM_006715682.3:c.-149-3858= XM_006715682.3:c.-149-3858G>C XM_006715682.3:c.-149-3858G>A
OSBPL3 transcript variant X7 XM_006715683.3:c.-149-3858= XM_006715683.3:c.-149-3858G>C XM_006715683.3:c.-149-3858G>A
OSBPL3 transcript variant X15 XM_006715684.4:c.-1192-3858= XM_006715684.4:c.-1192-3858G>C XM_006715684.4:c.-1192-3858G>A
OSBPL3 transcript variant X1 XM_011515258.2:c.-149-3858= XM_011515258.2:c.-149-3858G>C XM_011515258.2:c.-149-3858G>A
OSBPL3 transcript variant X5 XM_011515259.2:c.-628-3858= XM_011515259.2:c.-628-3858G>C XM_011515259.2:c.-628-3858G>A
OSBPL3 transcript variant X6 XM_017011948.1:c.-491-3858= XM_017011948.1:c.-491-3858G>C XM_017011948.1:c.-491-3858G>A
OSBPL3 transcript variant X8 XM_017011949.1:c.-628-3858= XM_017011949.1:c.-628-3858G>C XM_017011949.1:c.-628-3858G>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, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss136 Sep 19, 2000 (36)
2 SC_SNP ss15734694 Feb 28, 2004 (121)
3 ILLUMINA ss67085987 Dec 01, 2006 (127)
4 ILLUMINA ss67418970 Dec 01, 2006 (127)
5 ILLUMINA ss68152298 Dec 12, 2006 (127)
6 ILLUMINA ss70608578 May 26, 2008 (130)
7 ILLUMINA ss71155716 May 17, 2007 (127)
8 ILLUMINA ss75829030 Dec 06, 2007 (129)
9 AFFY ss76593088 Dec 06, 2007 (129)
10 HGSV ss79750595 Dec 15, 2007 (130)
11 HGSV ss83037394 Dec 15, 2007 (130)
12 KRIBB_YJKIM ss83343982 Dec 15, 2007 (130)
13 ILLUMINA-UK ss115987533 Feb 14, 2009 (130)
14 ILLUMINA ss153388813 Dec 01, 2009 (131)
15 GMI ss154528723 Dec 01, 2009 (131)
16 ILLUMINA ss159260121 Dec 01, 2009 (131)
17 COMPLETE_GENOMICS ss166294534 Jul 04, 2010 (132)
18 ILLUMINA ss172441041 Jul 04, 2010 (132)
19 BUSHMAN ss203089112 Jul 04, 2010 (132)
20 1000GENOMES ss212009539 Jul 14, 2010 (132)
21 1000GENOMES ss222968511 Jul 14, 2010 (132)
22 1000GENOMES ss233894332 Jul 15, 2010 (132)
23 1000GENOMES ss240865891 Jul 15, 2010 (132)
24 BL ss254127911 May 09, 2011 (134)
25 GMI ss279229014 May 04, 2012 (137)
26 ILLUMINA ss479939430 May 04, 2012 (137)
27 ILLUMINA ss479947639 May 04, 2012 (137)
28 ILLUMINA ss484767943 May 04, 2012 (137)
29 ILLUMINA ss536858354 Sep 08, 2015 (146)
30 TISHKOFF ss559875572 Apr 25, 2013 (138)
31 SSMP ss654228872 Apr 25, 2013 (138)
32 ILLUMINA ss778428422 Sep 08, 2015 (146)
33 ILLUMINA ss782830686 Sep 08, 2015 (146)
34 ILLUMINA ss783795494 Sep 08, 2015 (146)
35 ILLUMINA ss832084172 Sep 08, 2015 (146)
36 ILLUMINA ss832772347 Jul 13, 2019 (153)
37 ILLUMINA ss833883873 Sep 08, 2015 (146)
38 EVA-GONL ss984063871 Aug 21, 2014 (142)
39 JMKIDD_LAB ss1074451233 Aug 21, 2014 (142)
40 1000GENOMES ss1324345374 Aug 21, 2014 (142)
41 DDI ss1431061139 Apr 01, 2015 (144)
42 EVA_GENOME_DK ss1582116559 Apr 01, 2015 (144)
43 EVA_DECODE ss1593632733 Apr 01, 2015 (144)
44 EVA_UK10K_ALSPAC ss1617793793 Apr 01, 2015 (144)
45 EVA_UK10K_TWINSUK ss1660787826 Apr 01, 2015 (144)
46 EVA_SVP ss1712939918 Apr 01, 2015 (144)
47 ILLUMINA ss1752679463 Sep 08, 2015 (146)
48 HAMMER_LAB ss1804916719 Sep 08, 2015 (146)
49 WEILL_CORNELL_DGM ss1927308928 Feb 12, 2016 (147)
50 ILLUMINA ss1946204488 Feb 12, 2016 (147)
51 ILLUMINA ss1958996464 Feb 12, 2016 (147)
52 GENOMED ss1970651528 Jul 19, 2016 (147)
53 JJLAB ss2024331528 Sep 14, 2016 (149)
54 USC_VALOUEV ss2152527674 Dec 20, 2016 (150)
55 HUMAN_LONGEVITY ss2292524566 Dec 20, 2016 (150)
56 TOPMED ss2461385371 Dec 20, 2016 (150)
57 SYSTEMSBIOZJU ss2626654711 Nov 08, 2017 (151)
58 ILLUMINA ss2634581245 Nov 08, 2017 (151)
59 GRF ss2708184497 Nov 08, 2017 (151)
60 ILLUMINA ss2711105835 Nov 08, 2017 (151)
61 GNOMAD ss2850927283 Nov 08, 2017 (151)
62 SWEGEN ss3000793857 Nov 08, 2017 (151)
63 ILLUMINA ss3022718068 Nov 08, 2017 (151)
64 BIOINF_KMB_FNS_UNIBA ss3025960067 Nov 08, 2017 (151)
65 CSHL ss3347488189 Nov 08, 2017 (151)
66 TOPMED ss3525169258 Nov 08, 2017 (151)
67 ILLUMINA ss3625924589 Oct 12, 2018 (152)
68 ILLUMINA ss3629774426 Oct 12, 2018 (152)
69 ILLUMINA ss3632490023 Oct 12, 2018 (152)
70 ILLUMINA ss3633456443 Oct 12, 2018 (152)
71 ILLUMINA ss3634181034 Oct 12, 2018 (152)
72 ILLUMINA ss3635112841 Oct 12, 2018 (152)
73 ILLUMINA ss3635861009 Oct 12, 2018 (152)
74 ILLUMINA ss3637613954 Oct 12, 2018 (152)
75 ILLUMINA ss3638686404 Oct 12, 2018 (152)
76 ILLUMINA ss3639345626 Oct 12, 2018 (152)
77 ILLUMINA ss3639967724 Oct 12, 2018 (152)
78 ILLUMINA ss3640820137 Oct 12, 2018 (152)
79 ILLUMINA ss3643623368 Oct 12, 2018 (152)
80 ILLUMINA ss3644011984 Oct 12, 2018 (152)
81 ILLUMINA ss3644937600 Oct 12, 2018 (152)
82 ILLUMINA ss3653246290 Oct 12, 2018 (152)
83 EGCUT_WGS ss3668722634 Jul 13, 2019 (153)
84 EVA_DECODE ss3719304034 Jul 13, 2019 (153)
85 ILLUMINA ss3726429323 Jul 13, 2019 (153)
86 ACPOP ss3734451666 Jul 13, 2019 (153)
87 ILLUMINA ss3744286831 Jul 13, 2019 (153)
88 ILLUMINA ss3745412725 Jul 13, 2019 (153)
89 EVA ss3766316550 Jul 13, 2019 (153)
90 PAGE_CC ss3771358344 Jul 13, 2019 (153)
91 ILLUMINA ss3772905906 Jul 13, 2019 (153)
92 KHV_HUMAN_GENOMES ss3809483966 Jul 13, 2019 (153)
93 EVA ss3830470458 Apr 26, 2020 (154)
94 EVA ss3838722477 Apr 26, 2020 (154)
95 EVA ss3844173731 Apr 26, 2020 (154)
96 HGDP ss3847869978 Apr 26, 2020 (154)
97 SGDP_PRJ ss3866852803 Apr 26, 2020 (154)
98 KRGDB ss3913891088 Apr 26, 2020 (154)
99 EVA ss3984585174 Apr 26, 2021 (155)
100 EVA ss3985283819 Apr 26, 2021 (155)
101 EVA ss4017326098 Apr 26, 2021 (155)
102 TOPMED ss4739173210 Apr 26, 2021 (155)
103 TOMMO_GENOMICS ss5182268678 Apr 26, 2021 (155)
104 1000Genomes NC_000007.13 - 24936098 Oct 12, 2018 (152)
105 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 24936098 Oct 12, 2018 (152)
106 Chileans NC_000007.13 - 24936098 Apr 26, 2020 (154)
107 Genetic variation in the Estonian population NC_000007.13 - 24936098 Oct 12, 2018 (152)
108 The Danish reference pan genome NC_000007.13 - 24936098 Apr 26, 2020 (154)
109 gnomAD - Genomes NC_000007.14 - 24896479 Apr 26, 2021 (155)
110 Genome of the Netherlands Release 5 NC_000007.13 - 24936098 Apr 26, 2020 (154)
111 HGDP-CEPH-db Supplement 1 NC_000007.12 - 24902623 Apr 26, 2020 (154)
112 HapMap NC_000007.14 - 24896479 Apr 26, 2020 (154)
113 KOREAN population from KRGDB NC_000007.13 - 24936098 Apr 26, 2020 (154)
114 Northern Sweden NC_000007.13 - 24936098 Jul 13, 2019 (153)
115 The PAGE Study NC_000007.14 - 24896479 Jul 13, 2019 (153)
116 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000007.13 - 24936098 Apr 26, 2021 (155)
117 CNV burdens in cranial meningiomas NC_000007.13 - 24936098 Apr 26, 2021 (155)
118 Qatari NC_000007.13 - 24936098 Apr 26, 2020 (154)
119 SGDP_PRJ NC_000007.13 - 24936098 Apr 26, 2020 (154)
120 Siberian NC_000007.13 - 24936098 Apr 26, 2020 (154)
121 8.3KJPN NC_000007.13 - 24936098 Apr 26, 2021 (155)
122 TopMed NC_000007.14 - 24896479 Apr 26, 2021 (155)
123 UK 10K study - Twins NC_000007.13 - 24936098 Oct 12, 2018 (152)
124 A Vietnamese Genetic Variation Database NC_000007.13 - 24936098 Jul 13, 2019 (153)
125 ALFA NC_000007.14 - 24896479 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)
rs11508473 Apr 05, 2004 (121)
rs60536613 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
21068482, ss3913891088 NC_000007.13:24936097:C:G NC_000007.14:24896478:C:G (self)
ss79750595, ss83037394, ss3639345626, ss3639967724, ss3644011984 NC_000007.11:24709337:C:T NC_000007.14:24896478:C:T (self)
547870, ss76593088, ss115987533, ss166294534, ss203089112, ss212009539, ss254127911, ss279229014, ss479939430, ss1593632733, ss1712939918, ss3643623368, ss3847869978 NC_000007.12:24902622:C:T NC_000007.14:24896478:C:T (self)
36287312, 20229664, 404136, 14460882, 8281498, 9019522, 21068482, 7736531, 509746, 134595, 9350858, 18869783, 5044028, 40237985, 20229664, 4507474, ss222968511, ss233894332, ss240865891, ss479947639, ss484767943, ss536858354, ss559875572, ss654228872, ss778428422, ss782830686, ss783795494, ss832084172, ss832772347, ss833883873, ss984063871, ss1074451233, ss1324345374, ss1431061139, ss1582116559, ss1617793793, ss1660787826, ss1752679463, ss1804916719, ss1927308928, ss1946204488, ss1958996464, ss1970651528, ss2024331528, ss2152527674, ss2461385371, ss2626654711, ss2634581245, ss2708184497, ss2711105835, ss2850927283, ss3000793857, ss3022718068, ss3347488189, ss3625924589, ss3629774426, ss3632490023, ss3633456443, ss3634181034, ss3635112841, ss3635861009, ss3637613954, ss3638686404, ss3640820137, ss3644937600, ss3653246290, ss3668722634, ss3734451666, ss3744286831, ss3745412725, ss3766316550, ss3772905906, ss3830470458, ss3838722477, ss3866852803, ss3913891088, ss3984585174, ss3985283819, ss4017326098, ss5182268678 NC_000007.13:24936097:C:T NC_000007.14:24896478:C:T (self)
255866757, 3358791, 579813, 360666671, 576550769, 3650122955, ss2292524566, ss3025960067, ss3525169258, ss3719304034, ss3726429323, ss3771358344, ss3809483966, ss3844173731, ss4739173210 NC_000007.14:24896478:C:T NC_000007.14:24896478:C:T (self)
ss15734694 NT_007819.14:24229705:C:T NC_000007.14:24896478:C:T (self)
ss136, ss67085987, ss67418970, ss68152298, ss70608578, ss71155716, ss75829030, ss83343982, ss153388813, ss154528723, ss159260121, ss172441041 NT_007819.17:24926097:C:T NC_000007.14:24896478: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.

No publications for rs136

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