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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.

rs2448347

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:60785384 (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
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.460577 (121910/264690, TOPMED)
A=0.452455 (97571/215648, ALFA)
A=0.448859 (62781/139868, GnomAD) (+ 18 more)
A=0.49085 (38630/78700, PAGE_STUDY)
G=0.41026 (6876/16760, 8.3KJPN)
G=0.4904 (2456/5008, 1000G)
A=0.4319 (1935/4480, Estonian)
A=0.4255 (1640/3854, ALSPAC)
A=0.4455 (1652/3708, TWINSUK)
G=0.3259 (955/2930, KOREAN)
G=0.3319 (608/1832, Korea1K)
A=0.4048 (459/1134, Daghestan)
A=0.430 (429/998, GoNL)
G=0.300 (234/780, PRJEB37584)
A=0.493 (296/600, NorthernSweden)
G=0.287 (120/418, SGDP_PRJ)
G=0.468 (101/216, Qatari)
G=0.213 (46/216, Vietnamese)
A=0.40 (39/98, HapMap)
G=0.34 (15/44, Siberian)
A=0.47 (19/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CDK1 : Intron Variant
Publications
3 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.60785384G>A
GRCh38.p13 chr 10 NC_000010.11:g.60785384G>C
GRCh37.p13 chr 10 NC_000010.10:g.62545142G>A
GRCh37.p13 chr 10 NC_000010.10:g.62545142G>C
CDK1 RefSeqGene NG_029877.1:g.12054G>A
CDK1 RefSeqGene NG_029877.1:g.12054G>C
Gene: CDK1, cyclin dependent kinase 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CDK1 transcript variant 4 NM_001170406.1:c.195-280G…

NM_001170406.1:c.195-280G>A

N/A Intron Variant
CDK1 transcript variant 5 NM_001170407.2:c.195-280G…

NM_001170407.2:c.195-280G>A

N/A Intron Variant
CDK1 transcript variant 6 NM_001320918.1:c.195-280G…

NM_001320918.1:c.195-280G>A

N/A Intron Variant
CDK1 transcript variant 1 NM_001786.5:c.195-280G>A N/A Intron Variant
CDK1 transcript variant 2 NM_033379.5:c.195-280G>A N/A Intron Variant
CDK1 transcript variant X1 XM_005270303.3:c.195-280G…

XM_005270303.3:c.195-280G>A

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 215648 G=0.547545 A=0.452455
European Sub 181852 G=0.564168 A=0.435832
African Sub 6556 G=0.5822 A=0.4178
African Others Sub 244 G=0.623 A=0.377
African American Sub 6312 G=0.5806 A=0.4194
Asian Sub 6632 G=0.3189 A=0.6811
East Asian Sub 4772 G=0.3160 A=0.6840
Other Asian Sub 1860 G=0.3263 A=0.6737
Latin American 1 Sub 888 G=0.568 A=0.432
Latin American 2 Sub 5272 G=0.3420 A=0.6580
South Asian Sub 362 G=0.470 A=0.530
Other Sub 14086 G=0.50213 A=0.49787


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 G=0.539423 A=0.460577
gnomAD - Genomes Global Study-wide 139868 G=0.551141 A=0.448859
gnomAD - Genomes European Sub 75778 G=0.55577 A=0.44423
gnomAD - Genomes African Sub 41878 G=0.58389 A=0.41611
gnomAD - Genomes American Sub 13620 G=0.47988 A=0.52012
gnomAD - Genomes Ashkenazi Jewish Sub 3318 G=0.5925 A=0.4075
gnomAD - Genomes East Asian Sub 3122 G=0.2777 A=0.7223
gnomAD - Genomes Other Sub 2152 G=0.5349 A=0.4651
The PAGE Study Global Study-wide 78700 G=0.50915 A=0.49085
The PAGE Study AfricanAmerican Sub 32516 G=0.58411 A=0.41589
The PAGE Study Mexican Sub 10810 G=0.39362 A=0.60638
The PAGE Study Asian Sub 8318 G=0.3816 A=0.6184
The PAGE Study PuertoRican Sub 7918 G=0.5451 A=0.4549
The PAGE Study NativeHawaiian Sub 4534 G=0.4938 A=0.5062
The PAGE Study Cuban Sub 4228 G=0.5487 A=0.4513
The PAGE Study Dominican Sub 3828 G=0.5280 A=0.4720
The PAGE Study CentralAmerican Sub 2450 G=0.3853 A=0.6147
The PAGE Study SouthAmerican Sub 1982 G=0.3744 A=0.6256
The PAGE Study NativeAmerican Sub 1260 G=0.5032 A=0.4968
The PAGE Study SouthAsian Sub 856 G=0.505 A=0.495
8.3KJPN JAPANESE Study-wide 16760 G=0.41026 A=0.58974
1000Genomes Global Study-wide 5008 G=0.4904 A=0.5096
1000Genomes African Sub 1322 G=0.6112 A=0.3888
1000Genomes East Asian Sub 1008 G=0.3016 A=0.6984
1000Genomes Europe Sub 1006 G=0.5696 A=0.4304
1000Genomes South Asian Sub 978 G=0.486 A=0.514
1000Genomes American Sub 694 G=0.427 A=0.573
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.5681 A=0.4319
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.5745 A=0.4255
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.5545 A=0.4455
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.3259 A=0.6741, C=0.0000
Korean Genome Project KOREAN Study-wide 1832 G=0.3319 A=0.6681
Genome-wide autozygosity in Daghestan Global Study-wide 1134 G=0.5952 A=0.4048
Genome-wide autozygosity in Daghestan Daghestan Sub 626 G=0.634 A=0.366
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=0.562 A=0.438
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.533 A=0.467
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.537 A=0.463
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.47 A=0.53
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.78 A=0.22
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.570 A=0.430
CNV burdens in cranial meningiomas Global Study-wide 780 G=0.300 A=0.700
CNV burdens in cranial meningiomas CRM Sub 780 G=0.300 A=0.700
Northern Sweden ACPOP Study-wide 600 G=0.507 A=0.493
SGDP_PRJ Global Study-wide 418 G=0.287 A=0.713
Qatari Global Study-wide 216 G=0.468 A=0.532
A Vietnamese Genetic Variation Database Global Study-wide 216 G=0.213 A=0.787
HapMap Global Study-wide 98 G=0.60 A=0.40
HapMap American Sub 98 G=0.60 A=0.40
Siberian Global Study-wide 44 G=0.34 A=0.66
The Danish reference pan genome Danish Study-wide 40 G=0.53 A=0.47
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 G= A C
GRCh38.p13 chr 10 NC_000010.11:g.60785384= NC_000010.11:g.60785384G>A NC_000010.11:g.60785384G>C
GRCh37.p13 chr 10 NC_000010.10:g.62545142= NC_000010.10:g.62545142G>A NC_000010.10:g.62545142G>C
CDK1 RefSeqGene NG_029877.1:g.12054= NG_029877.1:g.12054G>A NG_029877.1:g.12054G>C
CDK1 transcript variant 4 NM_001170406.1:c.195-280= NM_001170406.1:c.195-280G>A NM_001170406.1:c.195-280G>C
CDK1 transcript variant 5 NM_001170407.1:c.195-280= NM_001170407.1:c.195-280G>A NM_001170407.1:c.195-280G>C
CDK1 transcript variant 5 NM_001170407.2:c.195-280= NM_001170407.2:c.195-280G>A NM_001170407.2:c.195-280G>C
CDK1 transcript variant 6 NM_001320918.1:c.195-280= NM_001320918.1:c.195-280G>A NM_001320918.1:c.195-280G>C
CDK1 transcript variant 1 NM_001786.4:c.195-280= NM_001786.4:c.195-280G>A NM_001786.4:c.195-280G>C
CDK1 transcript variant 1 NM_001786.5:c.195-280= NM_001786.5:c.195-280G>A NM_001786.5:c.195-280G>C
CDK1 transcript variant 2 NM_033379.4:c.195-280= NM_033379.4:c.195-280G>A NM_033379.4:c.195-280G>C
CDK1 transcript variant 2 NM_033379.5:c.195-280= NM_033379.5:c.195-280G>A NM_033379.5:c.195-280G>C
CDK1 transcript variant X1 XM_005270303.1:c.195-280= XM_005270303.1:c.195-280G>A XM_005270303.1:c.195-280G>C
CDK1 transcript variant X1 XM_005270303.3:c.195-280= XM_005270303.3:c.195-280G>A XM_005270303.3:c.195-280G>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#.

107 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss3432078 Sep 28, 2001 (100)
2 EGP_SNPS ss4473553 Jul 03, 2002 (106)
3 WI_SSAHASNP ss6846002 Feb 20, 2003 (111)
4 SC_SNP ss12953992 Dec 05, 2003 (119)
5 SC_SNP ss15867153 Feb 27, 2004 (120)
6 CSHL-HAPMAP ss16500049 Feb 27, 2004 (120)
7 CSHL-HAPMAP ss19895495 Feb 27, 2004 (120)
8 SSAHASNP ss20628678 Apr 05, 2004 (121)
9 ABI ss38549950 Mar 14, 2006 (126)
10 HGSV ss80795718 Dec 15, 2007 (130)
11 HGSV ss84007522 Dec 15, 2007 (130)
12 BCMHGSC_JDW ss88235992 Mar 23, 2008 (129)
13 HUMANGENOME_JCVI ss97654627 Feb 04, 2009 (130)
14 BGI ss102883669 Dec 01, 2009 (131)
15 1000GENOMES ss109491084 Jan 24, 2009 (130)
16 1000GENOMES ss113347954 Jan 25, 2009 (130)
17 ILLUMINA-UK ss119190241 Feb 15, 2009 (130)
18 ENSEMBL ss131902970 Dec 01, 2009 (131)
19 ENSEMBL ss131913155 Dec 01, 2009 (131)
20 GMI ss155112565 Dec 01, 2009 (131)
21 ILLUMINA ss160548889 Dec 01, 2009 (131)
22 COMPLETE_GENOMICS ss168447924 Jul 04, 2010 (132)
23 COMPLETE_GENOMICS ss170176343 Jul 04, 2010 (132)
24 COMPLETE_GENOMICS ss174575081 Jul 04, 2010 (132)
25 BUSHMAN ss201594749 Jul 04, 2010 (132)
26 BCM-HGSC-SUB ss207295853 Jul 04, 2010 (132)
27 1000GENOMES ss224758418 Jul 14, 2010 (132)
28 1000GENOMES ss235199389 Jul 15, 2010 (132)
29 1000GENOMES ss241900616 Jul 15, 2010 (132)
30 BL ss254360750 May 09, 2011 (134)
31 GMI ss280640507 May 04, 2012 (137)
32 PJP ss290850727 May 09, 2011 (134)
33 ILLUMINA ss481409871 Sep 08, 2015 (146)
34 ILLUMINA ss482624069 May 04, 2012 (137)
35 ILLUMINA ss483429356 May 04, 2012 (137)
36 EXOME_CHIP ss491435702 May 04, 2012 (137)
37 ILLUMINA ss535640051 Sep 08, 2015 (146)
38 TISHKOFF ss561993117 Apr 25, 2013 (138)
39 SSMP ss656818028 Apr 25, 2013 (138)
40 ILLUMINA ss780274032 Sep 08, 2015 (146)
41 ILLUMINA ss780791237 Sep 08, 2015 (146)
42 ILLUMINA ss782157954 Sep 08, 2015 (146)
43 ILLUMINA ss783472128 Sep 08, 2015 (146)
44 ILLUMINA ss835760164 Sep 08, 2015 (146)
45 EVA-GONL ss987549970 Aug 21, 2014 (142)
46 JMKIDD_LAB ss1077032382 Aug 21, 2014 (142)
47 1000GENOMES ss1337668261 Aug 21, 2014 (142)
48 HAMMER_LAB ss1397583134 Sep 08, 2015 (146)
49 DDI ss1426339631 Apr 01, 2015 (144)
50 EVA_GENOME_DK ss1575154367 Apr 01, 2015 (144)
51 EVA_DECODE ss1597216408 Apr 01, 2015 (144)
52 EVA_UK10K_ALSPAC ss1624687114 Apr 01, 2015 (144)
53 EVA_UK10K_TWINSUK ss1667681147 Apr 01, 2015 (144)
54 ILLUMINA ss1751974932 Sep 08, 2015 (146)
55 HAMMER_LAB ss1806416050 Sep 08, 2015 (146)
56 ILLUMINA ss1917847263 Feb 12, 2016 (147)
57 WEILL_CORNELL_DGM ss1930913882 Feb 12, 2016 (147)
58 ILLUMINA ss1946283553 Feb 12, 2016 (147)
59 ILLUMINA ss1959266823 Feb 12, 2016 (147)
60 GENOMED ss1967143025 Jul 19, 2016 (147)
61 JJLAB ss2026180198 Sep 14, 2016 (149)
62 USC_VALOUEV ss2154453338 Dec 20, 2016 (150)
63 HUMAN_LONGEVITY ss2175218460 Dec 20, 2016 (150)
64 TOPMED ss2338250761 Dec 20, 2016 (150)
65 SYSTEMSBIOZJU ss2627560473 Nov 08, 2017 (151)
66 ILLUMINA ss2632717876 Nov 08, 2017 (151)
67 GRF ss2698697458 Nov 08, 2017 (151)
68 GNOMAD ss2889431382 Nov 08, 2017 (151)
69 AFFY ss2984913311 Nov 08, 2017 (151)
70 SWEGEN ss3006573067 Nov 08, 2017 (151)
71 ILLUMINA ss3021244561 Nov 08, 2017 (151)
72 BIOINF_KMB_FNS_UNIBA ss3026881271 Nov 08, 2017 (151)
73 TOPMED ss3121339050 Nov 08, 2017 (151)
74 CSHL ss3349150381 Nov 08, 2017 (151)
75 ILLUMINA ss3626458030 Oct 12, 2018 (152)
76 ILLUMINA ss3626458031 Oct 12, 2018 (152)
77 ILLUMINA ss3630743313 Oct 12, 2018 (152)
78 ILLUMINA ss3634406039 Oct 12, 2018 (152)
79 ILLUMINA ss3636089634 Oct 12, 2018 (152)
80 ILLUMINA ss3640113381 Oct 12, 2018 (152)
81 ILLUMINA ss3641680847 Oct 12, 2018 (152)
82 ILLUMINA ss3644536241 Oct 12, 2018 (152)
83 URBANLAB ss3649385568 Oct 12, 2018 (152)
84 ILLUMINA ss3651599728 Oct 12, 2018 (152)
85 ILLUMINA ss3653683893 Oct 12, 2018 (152)
86 EGCUT_WGS ss3673985541 Jul 13, 2019 (153)
87 EVA_DECODE ss3689992878 Jul 13, 2019 (153)
88 ILLUMINA ss3725161221 Jul 13, 2019 (153)
89 ACPOP ss3737373166 Jul 13, 2019 (153)
90 ILLUMINA ss3744367175 Jul 13, 2019 (153)
91 ILLUMINA ss3744706910 Jul 13, 2019 (153)
92 EVA ss3748171981 Jul 13, 2019 (153)
93 PAGE_CC ss3771560916 Jul 13, 2019 (153)
94 ILLUMINA ss3772207481 Jul 13, 2019 (153)
95 PACBIO ss3786689048 Jul 13, 2019 (153)
96 PACBIO ss3791867545 Jul 13, 2019 (153)
97 PACBIO ss3796749563 Jul 13, 2019 (153)
98 KHV_HUMAN_GENOMES ss3813547644 Jul 13, 2019 (153)
99 EVA ss3832155653 Apr 26, 2020 (154)
100 EVA ss3839617336 Apr 26, 2020 (154)
101 EVA ss3845089575 Apr 26, 2020 (154)
102 SGDP_PRJ ss3874329883 Apr 26, 2020 (154)
103 KRGDB ss3922399925 Apr 26, 2020 (154)
104 KOGIC ss3967992494 Apr 26, 2020 (154)
105 EVA ss3984635083 Apr 27, 2021 (155)
106 TOPMED ss4854409026 Apr 27, 2021 (155)
107 TOMMO_GENOMICS ss5197891748 Apr 27, 2021 (155)
108 1000Genomes NC_000010.10 - 62545142 Oct 12, 2018 (152)
109 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 62545142 Oct 12, 2018 (152)
110 Genome-wide autozygosity in Daghestan NC_000010.9 - 62215148 Apr 26, 2020 (154)
111 Genetic variation in the Estonian population NC_000010.10 - 62545142 Oct 12, 2018 (152)
112 The Danish reference pan genome NC_000010.10 - 62545142 Apr 26, 2020 (154)
113 gnomAD - Genomes NC_000010.11 - 60785384 Apr 27, 2021 (155)
114 Genome of the Netherlands Release 5 NC_000010.10 - 62545142 Apr 26, 2020 (154)
115 HapMap NC_000010.11 - 60785384 Apr 26, 2020 (154)
116 KOREAN population from KRGDB NC_000010.10 - 62545142 Apr 26, 2020 (154)
117 Korean Genome Project NC_000010.11 - 60785384 Apr 26, 2020 (154)
118 Northern Sweden NC_000010.10 - 62545142 Jul 13, 2019 (153)
119 The PAGE Study NC_000010.11 - 60785384 Jul 13, 2019 (153)
120 CNV burdens in cranial meningiomas NC_000010.10 - 62545142 Apr 27, 2021 (155)
121 Qatari NC_000010.10 - 62545142 Apr 26, 2020 (154)
122 SGDP_PRJ NC_000010.10 - 62545142 Apr 26, 2020 (154)
123 Siberian NC_000010.10 - 62545142 Apr 26, 2020 (154)
124 8.3KJPN NC_000010.10 - 62545142 Apr 27, 2021 (155)
125 TopMed NC_000010.11 - 60785384 Apr 27, 2021 (155)
126 UK 10K study - Twins NC_000010.10 - 62545142 Oct 12, 2018 (152)
127 A Vietnamese Genetic Variation Database NC_000010.10 - 62545142 Jul 13, 2019 (153)
128 ALFA NC_000010.11 - 60785384 Apr 27, 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)
rs58225162 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss80795718, ss84007522 NC_000010.8:62215147:G:A NC_000010.11:60785383:G:A (self)
54630, ss88235992, ss109491084, ss113347954, ss119190241, ss168447924, ss170176343, ss174575081, ss201594749, ss207295853, ss254360750, ss280640507, ss290850727, ss482624069, ss1397583134, ss1597216408 NC_000010.9:62215147:G:A NC_000010.11:60785383:G:A (self)
50064634, 27786415, 19723789, 2181695, 12392377, 29577319, 10658031, 184542, 12955812, 26346863, 6969692, 55861055, 27786415, 6171255, ss224758418, ss235199389, ss241900616, ss481409871, ss483429356, ss491435702, ss535640051, ss561993117, ss656818028, ss780274032, ss780791237, ss782157954, ss783472128, ss835760164, ss987549970, ss1077032382, ss1337668261, ss1426339631, ss1575154367, ss1624687114, ss1667681147, ss1751974932, ss1806416050, ss1917847263, ss1930913882, ss1946283553, ss1959266823, ss1967143025, ss2026180198, ss2154453338, ss2338250761, ss2627560473, ss2632717876, ss2698697458, ss2889431382, ss2984913311, ss3006573067, ss3021244561, ss3349150381, ss3626458030, ss3626458031, ss3630743313, ss3634406039, ss3636089634, ss3640113381, ss3641680847, ss3644536241, ss3651599728, ss3653683893, ss3673985541, ss3737373166, ss3744367175, ss3744706910, ss3748171981, ss3772207481, ss3786689048, ss3791867545, ss3796749563, ss3832155653, ss3839617336, ss3874329883, ss3922399925, ss3984635083, ss5197891748 NC_000010.10:62545141:G:A NC_000010.11:60785383:G:A (self)
353874517, 415748, 24370495, 782385, 43953997, 69954681, 10181090657, ss2175218460, ss3026881271, ss3121339050, ss3649385568, ss3689992878, ss3725161221, ss3771560916, ss3813547644, ss3845089575, ss3967992494, ss4854409026 NC_000010.11:60785383:G:A NC_000010.11:60785383:G:A (self)
ss12953992 NT_008583.15:11096289:G:A NC_000010.11:60785383:G:A (self)
ss15867153, ss16500049, ss19895495, ss20628678 NT_008583.16:11096296:G:A NC_000010.11:60785383:G:A (self)
ss3432078, ss4473553, ss6846002, ss38549950, ss97654627, ss102883669, ss131902970, ss131913155, ss155112565, ss160548889 NT_030059.13:13349605:G:A NC_000010.11:60785383:G:A (self)
29577319, ss3922399925 NC_000010.10:62545141:G:C NC_000010.11:60785383:G:C (self)
Help

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

3 citations for rs2448347
PMID Title Author Year Journal
18076107 Confronting complexity in late-onset Alzheimer disease: application of two-stage analysis approach addressing heterogeneity and epistasis. Thornton-Wells TA et al. 2008 Genetic epidemiology
21811019 Genetic variation in the tau kinases pathway may modify the risk and age at onset of Alzheimer's disease. Vázquez-Higuera JL et al. 2011 Journal of Alzheimer's disease
22911757 Association study of candidate gene polymorphisms with amnestic mild cognitive impairment in a Chinese population. Liu X et al. 2012 PloS one
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