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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.

rs2448348

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:60787366 (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
G>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.256394 (67865/264690, TOPMED)
G=0.245796 (59788/243242, ALFA)
G=0.252212 (35296/139946, GnomAD) (+ 19 more)
G=0.26460 (20818/78676, PAGE_STUDY)
G=0.22742 (6426/28256, 14KJPN)
G=0.22655 (3797/16760, 8.3KJPN)
G=0.2330 (1492/6404, 1000G_30x)
G=0.2308 (1156/5008, 1000G)
G=0.2522 (1130/4480, Estonian)
G=0.2654 (1023/3854, ALSPAC)
G=0.2586 (959/3708, TWINSUK)
G=0.1679 (492/2930, KOREAN)
G=0.1632 (299/1832, Korea1K)
G=0.258 (257/998, GoNL)
G=0.140 (110/786, PRJEB37584)
G=0.175 (105/600, NorthernSweden)
G=0.165 (82/498, SGDP_PRJ)
G=0.274 (90/328, HapMap)
G=0.222 (48/216, Qatari)
G=0.108 (23/212, Vietnamese)
G=0.15 (8/54, Siberian)
G=0.30 (12/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CDK1 : 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 248278 G=0.245769 A=0.754231, T=0.000000
European Sub 219666 G=0.246369 A=0.753631, T=0.000000
African Sub 7494 G=0.3034 A=0.6966, T=0.0000
African Others Sub 294 G=0.330 A=0.670, T=0.000
African American Sub 7200 G=0.3024 A=0.6976, T=0.0000
Asian Sub 3854 G=0.1988 A=0.8012, T=0.0000
East Asian Sub 3122 G=0.1768 A=0.8232, T=0.0000
Other Asian Sub 732 G=0.292 A=0.708, T=0.000
Latin American 1 Sub 1028 G=0.2432 A=0.7568, T=0.0000
Latin American 2 Sub 6576 G=0.1934 A=0.8066, T=0.0000
South Asian Sub 366 G=0.210 A=0.790, T=0.000
Other Sub 9294 G=0.2433 A=0.7567, T=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 G=0.256394 A=0.743606
Allele Frequency Aggregator Total Global 243242 G=0.245796 A=0.754204, T=0.000000
Allele Frequency Aggregator European Sub 216572 G=0.246482 A=0.753518, T=0.000000
Allele Frequency Aggregator Other Sub 8494 G=0.2445 A=0.7555, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 6576 G=0.1934 A=0.8066, T=0.0000
Allele Frequency Aggregator African Sub 6352 G=0.3094 A=0.6906, T=0.0000
Allele Frequency Aggregator Asian Sub 3854 G=0.1988 A=0.8012, T=0.0000
Allele Frequency Aggregator Latin American 1 Sub 1028 G=0.2432 A=0.7568, T=0.0000
Allele Frequency Aggregator South Asian Sub 366 G=0.210 A=0.790, T=0.000
gnomAD - Genomes Global Study-wide 139946 G=0.252212 A=0.747788
gnomAD - Genomes European Sub 75804 G=0.23334 A=0.76666
gnomAD - Genomes African Sub 41930 G=0.30439 A=0.69561
gnomAD - Genomes American Sub 13616 G=0.22562 A=0.77438
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.2268 A=0.7732
gnomAD - Genomes East Asian Sub 3126 G=0.1583 A=0.8417
gnomAD - Genomes Other Sub 2146 G=0.2442 A=0.7558
The PAGE Study Global Study-wide 78676 G=0.26460 A=0.73540
The PAGE Study AfricanAmerican Sub 32500 G=0.30526 A=0.69474
The PAGE Study Mexican Sub 10806 G=0.21942 A=0.78058
The PAGE Study Asian Sub 8316 G=0.2126 A=0.7874
The PAGE Study PuertoRican Sub 7918 G=0.2544 A=0.7456
The PAGE Study NativeHawaiian Sub 4534 G=0.3147 A=0.6853
The PAGE Study Cuban Sub 4230 G=0.2518 A=0.7482
The PAGE Study Dominican Sub 3826 G=0.2462 A=0.7538
The PAGE Study CentralAmerican Sub 2448 G=0.1973 A=0.8027
The PAGE Study SouthAmerican Sub 1982 G=0.1816 A=0.8184
The PAGE Study NativeAmerican Sub 1260 G=0.2325 A=0.7675
The PAGE Study SouthAsian Sub 856 G=0.203 A=0.797
14KJPN JAPANESE Study-wide 28256 G=0.22742 A=0.77258
8.3KJPN JAPANESE Study-wide 16760 G=0.22655 A=0.77345
1000Genomes_30x Global Study-wide 6404 G=0.2330 A=0.7670
1000Genomes_30x African Sub 1786 G=0.3337 A=0.6663
1000Genomes_30x Europe Sub 1266 G=0.2117 A=0.7883
1000Genomes_30x South Asian Sub 1202 G=0.1963 A=0.8037
1000Genomes_30x East Asian Sub 1170 G=0.1521 A=0.8479
1000Genomes_30x American Sub 980 G=0.218 A=0.782
1000Genomes Global Study-wide 5008 G=0.2308 A=0.7692
1000Genomes African Sub 1322 G=0.3313 A=0.6687
1000Genomes East Asian Sub 1008 G=0.1577 A=0.8423
1000Genomes Europe Sub 1006 G=0.2058 A=0.7942
1000Genomes South Asian Sub 978 G=0.208 A=0.792
1000Genomes American Sub 694 G=0.215 A=0.785
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.2522 A=0.7478
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.2654 A=0.7346
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.2586 A=0.7414
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.1679 A=0.8321, C=0.0000, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 G=0.1632 A=0.8368
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.258 A=0.742
CNV burdens in cranial meningiomas Global Study-wide 786 G=0.140 A=0.860
CNV burdens in cranial meningiomas CRM Sub 786 G=0.140 A=0.860
Northern Sweden ACPOP Study-wide 600 G=0.175 A=0.825
SGDP_PRJ Global Study-wide 498 G=0.165 A=0.835
HapMap Global Study-wide 328 G=0.274 A=0.726
HapMap American Sub 120 G=0.225 A=0.775
HapMap African Sub 118 G=0.373 A=0.627
HapMap Asian Sub 90 G=0.21 A=0.79
Qatari Global Study-wide 216 G=0.222 A=0.778
A Vietnamese Genetic Variation Database Global Study-wide 212 G=0.108 A=0.892
Siberian Global Study-wide 54 G=0.15 A=0.85
The Danish reference pan genome Danish Study-wide 40 G=0.30 A=0.70
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 10 NC_000010.11:g.60787366G>A
GRCh38.p14 chr 10 NC_000010.11:g.60787366G>C
GRCh38.p14 chr 10 NC_000010.11:g.60787366G>T
GRCh37.p13 chr 10 NC_000010.10:g.62547124G>A
GRCh37.p13 chr 10 NC_000010.10:g.62547124G>C
GRCh37.p13 chr 10 NC_000010.10:g.62547124G>T
CDK1 RefSeqGene NG_029877.1:g.14036G>A
CDK1 RefSeqGene NG_029877.1:g.14036G>C
CDK1 RefSeqGene NG_029877.1:g.14036G>T
Gene: CDK1, cyclin dependent kinase 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CDK1 transcript variant 6 NM_001320918.1:c.319-694G…

NM_001320918.1:c.319-694G>A

N/A Intron Variant
CDK1 transcript variant 1 NM_001786.5:c.319-694G>A N/A Intron Variant
CDK1 transcript variant 2 NM_033379.5:c.318+1579G>A N/A Intron Variant
CDK1 transcript variant 4 NM_001170406.1:c. N/A Genic Downstream Transcript Variant
CDK1 transcript variant 5 NM_001170407.2:c. N/A Genic Downstream Transcript Variant
CDK1 transcript variant X1 XM_005270303.4:c.319-694G…

XM_005270303.4:c.319-694G>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
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 T
GRCh38.p14 chr 10 NC_000010.11:g.60787366= NC_000010.11:g.60787366G>A NC_000010.11:g.60787366G>C NC_000010.11:g.60787366G>T
GRCh37.p13 chr 10 NC_000010.10:g.62547124= NC_000010.10:g.62547124G>A NC_000010.10:g.62547124G>C NC_000010.10:g.62547124G>T
CDK1 RefSeqGene NG_029877.1:g.14036= NG_029877.1:g.14036G>A NG_029877.1:g.14036G>C NG_029877.1:g.14036G>T
CDK1 transcript variant 6 NM_001320918.1:c.319-694= NM_001320918.1:c.319-694G>A NM_001320918.1:c.319-694G>C NM_001320918.1:c.319-694G>T
CDK1 transcript variant 1 NM_001786.4:c.319-694= NM_001786.4:c.319-694G>A NM_001786.4:c.319-694G>C NM_001786.4:c.319-694G>T
CDK1 transcript variant 1 NM_001786.5:c.319-694= NM_001786.5:c.319-694G>A NM_001786.5:c.319-694G>C NM_001786.5:c.319-694G>T
CDK1 transcript variant 2 NM_033379.4:c.318+1579= NM_033379.4:c.318+1579G>A NM_033379.4:c.318+1579G>C NM_033379.4:c.318+1579G>T
CDK1 transcript variant 2 NM_033379.5:c.318+1579= NM_033379.5:c.318+1579G>A NM_033379.5:c.318+1579G>C NM_033379.5:c.318+1579G>T
CDK1 transcript variant X1 XM_005270303.1:c.319-694= XM_005270303.1:c.319-694G>A XM_005270303.1:c.319-694G>C XM_005270303.1:c.319-694G>T
CDK1 transcript variant X1 XM_005270303.4:c.319-694= XM_005270303.4:c.319-694G>A XM_005270303.4:c.319-694G>C XM_005270303.4:c.319-694G>T
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#.

121 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss3432080 Sep 28, 2001 (100)
2 EGP_SNPS ss4473565 Jul 03, 2002 (106)
3 WI_SSAHASNP ss12084223 Jul 11, 2003 (116)
4 SC_SNP ss12953995 Dec 05, 2003 (119)
5 SC_SNP ss16048452 Feb 27, 2004 (120)
6 CSHL-HAPMAP ss19187408 Feb 27, 2004 (120)
7 SSAHASNP ss20698333 Apr 05, 2004 (121)
8 HGSV ss80958095 Dec 15, 2007 (130)
9 HGSV ss84160477 Dec 15, 2007 (130)
10 BCMHGSC_JDW ss88236002 Mar 23, 2008 (129)
11 HUMANGENOME_JCVI ss97560260 Feb 05, 2009 (130)
12 BGI ss102883674 Dec 01, 2009 (131)
13 1000GENOMES ss109491101 Jan 24, 2009 (130)
14 1000GENOMES ss113347986 Jan 25, 2009 (130)
15 ILLUMINA-UK ss119190249 Feb 15, 2009 (130)
16 ENSEMBL ss131902979 Dec 01, 2009 (131)
17 ENSEMBL ss137964340 Dec 01, 2009 (131)
18 GMI ss155112602 Dec 01, 2009 (131)
19 ILLUMINA ss160548890 Dec 01, 2009 (131)
20 COMPLETE_GENOMICS ss168447953 Jul 04, 2010 (132)
21 COMPLETE_GENOMICS ss170176408 Jul 04, 2010 (132)
22 COMPLETE_GENOMICS ss174575098 Jul 04, 2010 (132)
23 BUSHMAN ss201594772 Jul 04, 2010 (132)
24 BCM-HGSC-SUB ss207006521 Jul 04, 2010 (132)
25 1000GENOMES ss224758428 Jul 14, 2010 (132)
26 1000GENOMES ss235199396 Jul 15, 2010 (132)
27 1000GENOMES ss241900623 Jul 15, 2010 (132)
28 BL ss254360765 May 09, 2011 (134)
29 GMI ss280640515 May 04, 2012 (137)
30 GMI ss286201341 Apr 25, 2013 (138)
31 PJP ss290850734 May 09, 2011 (134)
32 ILLUMINA ss480573226 May 04, 2012 (137)
33 ILLUMINA ss480587689 May 04, 2012 (137)
34 ILLUMINA ss481409875 Sep 08, 2015 (146)
35 ILLUMINA ss485082143 May 04, 2012 (137)
36 ILLUMINA ss537092358 Sep 08, 2015 (146)
37 TISHKOFF ss561993128 Apr 25, 2013 (138)
38 SSMP ss656818064 Apr 25, 2013 (138)
39 ILLUMINA ss778869620 Sep 08, 2015 (146)
40 ILLUMINA ss782987374 Sep 08, 2015 (146)
41 ILLUMINA ss783948249 Sep 08, 2015 (146)
42 ILLUMINA ss832244083 Sep 08, 2015 (146)
43 ILLUMINA ss834330501 Sep 08, 2015 (146)
44 EVA-GONL ss987549984 Aug 21, 2014 (142)
45 JMKIDD_LAB ss1077032394 Aug 21, 2014 (142)
46 1000GENOMES ss1337668307 Aug 21, 2014 (142)
47 DDI ss1426339637 Apr 01, 2015 (144)
48 EVA_GENOME_DK ss1575154393 Apr 01, 2015 (144)
49 EVA_DECODE ss1597216426 Apr 01, 2015 (144)
50 EVA_UK10K_ALSPAC ss1624687139 Apr 01, 2015 (144)
51 EVA_UK10K_TWINSUK ss1667681172 Apr 01, 2015 (144)
52 ILLUMINA ss1751974933 Sep 08, 2015 (146)
53 HAMMER_LAB ss1806416055 Sep 08, 2015 (146)
54 WEILL_CORNELL_DGM ss1930913894 Feb 12, 2016 (147)
55 ILLUMINA ss1946283554 Feb 12, 2016 (147)
56 ILLUMINA ss1959266824 Feb 12, 2016 (147)
57 GENOMED ss1967143030 Jul 19, 2016 (147)
58 JJLAB ss2026180205 Sep 14, 2016 (149)
59 USC_VALOUEV ss2154453347 Dec 20, 2016 (150)
60 HUMAN_LONGEVITY ss2175218569 Dec 20, 2016 (150)
61 SYSTEMSBIOZJU ss2627560480 Nov 08, 2017 (151)
62 ILLUMINA ss2632717877 Nov 08, 2017 (151)
63 GRF ss2698697465 Nov 08, 2017 (151)
64 ILLUMINA ss2710711253 Nov 08, 2017 (151)
65 GNOMAD ss2889431515 Nov 08, 2017 (151)
66 SWEGEN ss3006573083 Nov 08, 2017 (151)
67 ILLUMINA ss3021244562 Nov 08, 2017 (151)
68 BIOINF_KMB_FNS_UNIBA ss3026881277 Nov 08, 2017 (151)
69 CSHL ss3349150387 Nov 08, 2017 (151)
70 ILLUMINA ss3625580344 Oct 12, 2018 (152)
71 ILLUMINA ss3626458039 Oct 12, 2018 (152)
72 ILLUMINA ss3630743314 Oct 12, 2018 (152)
73 ILLUMINA ss3632951404 Oct 12, 2018 (152)
74 ILLUMINA ss3633648623 Oct 12, 2018 (152)
75 ILLUMINA ss3634406040 Oct 12, 2018 (152)
76 ILLUMINA ss3635341090 Oct 12, 2018 (152)
77 ILLUMINA ss3636089635 Oct 12, 2018 (152)
78 ILLUMINA ss3637091763 Oct 12, 2018 (152)
79 ILLUMINA ss3640113382 Oct 12, 2018 (152)
80 ILLUMINA ss3644536242 Oct 12, 2018 (152)
81 URBANLAB ss3649385574 Oct 12, 2018 (152)
82 ILLUMINA ss3651599729 Oct 12, 2018 (152)
83 EGCUT_WGS ss3673985559 Jul 13, 2019 (153)
84 EVA_DECODE ss3689992897 Jul 13, 2019 (153)
85 ILLUMINA ss3725161222 Jul 13, 2019 (153)
86 ACPOP ss3737373174 Jul 13, 2019 (153)
87 ILLUMINA ss3744071035 Jul 13, 2019 (153)
88 ILLUMINA ss3744706911 Jul 13, 2019 (153)
89 EVA ss3748171995 Jul 13, 2019 (153)
90 PAGE_CC ss3771560917 Jul 13, 2019 (153)
91 ILLUMINA ss3772207482 Jul 13, 2019 (153)
92 PACBIO ss3786689054 Jul 13, 2019 (153)
93 PACBIO ss3791867550 Jul 13, 2019 (153)
94 PACBIO ss3796749568 Jul 13, 2019 (153)
95 KHV_HUMAN_GENOMES ss3813547659 Jul 13, 2019 (153)
96 EVA ss3832155659 Apr 26, 2020 (154)
97 EVA ss3839617341 Apr 26, 2020 (154)
98 EVA ss3845089580 Apr 26, 2020 (154)
99 SGDP_PRJ ss3874329907 Apr 26, 2020 (154)
100 KRGDB ss3922399951 Apr 26, 2020 (154)
101 KOGIC ss3967992519 Apr 26, 2020 (154)
102 EVA ss3984635084 Apr 27, 2021 (155)
103 TOPMED ss4854409425 Apr 27, 2021 (155)
104 TOMMO_GENOMICS ss5197891807 Apr 27, 2021 (155)
105 1000G_HIGH_COVERAGE ss5284249418 Oct 16, 2022 (156)
106 EVA ss5315476814 Oct 16, 2022 (156)
107 EVA ss5393824352 Oct 16, 2022 (156)
108 HUGCELL_USP ss5479806174 Oct 16, 2022 (156)
109 EVA ss5510040173 Oct 16, 2022 (156)
110 1000G_HIGH_COVERAGE ss5578300095 Oct 16, 2022 (156)
111 SANFORD_IMAGENETICS ss5624248946 Oct 16, 2022 (156)
112 SANFORD_IMAGENETICS ss5649403191 Oct 16, 2022 (156)
113 TOMMO_GENOMICS ss5743796291 Oct 16, 2022 (156)
114 EVA ss5799814059 Oct 16, 2022 (156)
115 YY_MCH ss5811582971 Oct 16, 2022 (156)
116 EVA ss5824475588 Oct 16, 2022 (156)
117 EVA ss5847373667 Oct 16, 2022 (156)
118 EVA ss5849591237 Oct 16, 2022 (156)
119 EVA ss5879132319 Oct 16, 2022 (156)
120 EVA ss5940673528 Oct 16, 2022 (156)
121 EVA ss5979327321 Oct 16, 2022 (156)
122 1000Genomes NC_000010.10 - 62547124 Oct 12, 2018 (152)
123 1000Genomes_30x NC_000010.11 - 60787366 Oct 16, 2022 (156)
124 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 62547124 Oct 12, 2018 (152)
125 Genetic variation in the Estonian population NC_000010.10 - 62547124 Oct 12, 2018 (152)
126 The Danish reference pan genome NC_000010.10 - 62547124 Apr 26, 2020 (154)
127 gnomAD - Genomes NC_000010.11 - 60787366 Apr 27, 2021 (155)
128 Genome of the Netherlands Release 5 NC_000010.10 - 62547124 Apr 26, 2020 (154)
129 HapMap NC_000010.11 - 60787366 Apr 26, 2020 (154)
130 KOREAN population from KRGDB NC_000010.10 - 62547124 Apr 26, 2020 (154)
131 Korean Genome Project NC_000010.11 - 60787366 Apr 26, 2020 (154)
132 Northern Sweden NC_000010.10 - 62547124 Jul 13, 2019 (153)
133 The PAGE Study NC_000010.11 - 60787366 Jul 13, 2019 (153)
134 CNV burdens in cranial meningiomas NC_000010.10 - 62547124 Apr 27, 2021 (155)
135 Qatari NC_000010.10 - 62547124 Apr 26, 2020 (154)
136 SGDP_PRJ NC_000010.10 - 62547124 Apr 26, 2020 (154)
137 Siberian NC_000010.10 - 62547124 Apr 26, 2020 (154)
138 8.3KJPN NC_000010.10 - 62547124 Apr 27, 2021 (155)
139 14KJPN NC_000010.11 - 60787366 Oct 16, 2022 (156)
140 TopMed NC_000010.11 - 60787366 Apr 27, 2021 (155)
141 UK 10K study - Twins NC_000010.10 - 62547124 Oct 12, 2018 (152)
142 A Vietnamese Genetic Variation Database NC_000010.10 - 62547124 Jul 13, 2019 (153)
143 ALFA NC_000010.11 - 60787366 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)
rs58877922 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss80958095, ss84160477 NC_000010.8:62217129:G:A NC_000010.11:60787365:G:A (self)
ss88236002, ss109491101, ss113347986, ss119190249, ss168447953, ss170176408, ss174575098, ss201594772, ss207006521, ss254360765, ss280640515, ss286201341, ss290850734, ss480573226, ss1597216426 NC_000010.9:62217129:G:A NC_000010.11:60787365:G:A (self)
50064683, 27786440, 19723807, 2181704, 12392391, 29577345, 10658039, 184543, 12955824, 26346887, 6969701, 55861114, 27786440, 6171266, ss224758428, ss235199396, ss241900623, ss480587689, ss481409875, ss485082143, ss537092358, ss561993128, ss656818064, ss778869620, ss782987374, ss783948249, ss832244083, ss834330501, ss987549984, ss1077032394, ss1337668307, ss1426339637, ss1575154393, ss1624687139, ss1667681172, ss1751974933, ss1806416055, ss1930913894, ss1946283554, ss1959266824, ss1967143030, ss2026180205, ss2154453347, ss2627560480, ss2632717877, ss2698697465, ss2710711253, ss2889431515, ss3006573083, ss3021244562, ss3349150387, ss3625580344, ss3626458039, ss3630743314, ss3632951404, ss3633648623, ss3634406040, ss3635341090, ss3636089635, ss3637091763, ss3640113382, ss3644536242, ss3651599729, ss3673985559, ss3737373174, ss3744071035, ss3744706911, ss3748171995, ss3772207482, ss3786689054, ss3791867550, ss3796749568, ss3832155659, ss3839617341, ss3874329907, ss3922399951, ss3984635084, ss5197891807, ss5315476814, ss5393824352, ss5510040173, ss5624248946, ss5649403191, ss5799814059, ss5824475588, ss5847373667, ss5940673528, ss5979327321 NC_000010.10:62547123:G:A NC_000010.11:60787365:G:A (self)
65826030, 353874853, 415761, 24370520, 782386, 77633395, 69955080, 2980981282, ss2175218569, ss3026881277, ss3649385574, ss3689992897, ss3725161222, ss3771560917, ss3813547659, ss3845089580, ss3967992519, ss4854409425, ss5284249418, ss5479806174, ss5578300095, ss5743796291, ss5811582971, ss5849591237, ss5879132319 NC_000010.11:60787365:G:A NC_000010.11:60787365:G:A (self)
ss12084223, ss12953995 NT_008583.15:11098271:G:A NC_000010.11:60787365:G:A (self)
ss16048452, ss19187408, ss20698333 NT_008583.16:11098278:G:A NC_000010.11:60787365:G:A (self)
ss3432080, ss4473565, ss97560260, ss102883674, ss131902979, ss137964340, ss155112602, ss160548890 NT_030059.13:13351587:G:A NC_000010.11:60787365:G:A (self)
29577345, ss3922399951 NC_000010.10:62547123:G:C NC_000010.11:60787365:G:C (self)
29577345, ss3922399951 NC_000010.10:62547123:G:T NC_000010.11:60787365:G:T (self)
2980981282 NC_000010.11:60787365:G:T NC_000010.11:60787365:G: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 rs2448348

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