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dbSNP Short Genetic Variations

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.

rs8100018

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr19:40246116 (GRCh38.p12) 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
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.26843 (33706/125568, TOPMED)
C=0.2441 (19212/78692, PAGE_STUDY)
C=0.2773 (8397/30282, GnomAD) (+ 5 more)
C=0.256 (1283/5008, 1000G)
C=0.328 (1470/4480, Estonian)
C=0.281 (1082/3854, ALSPAC)
C=0.293 (1086/3708, TWINSUK)
C=0.27 (161/600, NorthernSweden)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
AKT2 : Intron Variant
Publications
9 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.p12 chr 19 NC_000019.10:g.40246116C>A
GRCh38.p12 chr 19 NC_000019.10:g.40246116C>G
GRCh37.p13 chr 19 NC_000019.9:g.40752023C>A
GRCh37.p13 chr 19 NC_000019.9:g.40752023C>G
AKT2 RefSeqGene (LRG_1391) NG_012038.2:g.44243G>T
AKT2 RefSeqGene (LRG_1391) NG_012038.2:g.44243G>C
Gene: AKT2, AKT serine/threonine kinase 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
AKT2 transcript variant 2 NM_001243027.3:c. N/A Intron Variant
AKT2 transcript variant 3 NM_001243028.3:c. N/A Intron Variant
AKT2 transcript variant 4 NM_001330511.1:c. N/A Intron Variant
AKT2 transcript variant 1 NM_001626.6:c. N/A Intron Variant
AKT2 transcript variant X1 XM_011526614.1:c. N/A Intron Variant
AKT2 transcript variant X2 XM_011526615.1:c. N/A Intron Variant
AKT2 transcript variant X3 XM_011526616.1:c. N/A Intron Variant
AKT2 transcript variant X6 XM_011526618.1:c. N/A Intron Variant
AKT2 transcript variant X7 XM_011526619.1:c. N/A Intron Variant
AKT2 transcript variant X8 XM_011526620.1:c. N/A Intron Variant
AKT2 transcript variant X10 XM_011526622.2:c. N/A Intron Variant
AKT2 transcript variant X5 XM_017026470.2:c. N/A Intron Variant
AKT2 transcript variant X4 XM_024451416.1:c. N/A Intron Variant
AKT2 transcript variant X9 XM_024451417.1:c. 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

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 125568 C=0.26843 G=0.73157
The PAGE Study Global Study-wide 78692 C=0.2441 G=0.7559
The PAGE Study AfricanAmerican Sub 32512 C=0.2091 G=0.7909
The PAGE Study Mexican Sub 10810 C=0.2322 G=0.7678
The PAGE Study Asian Sub 8318 C=0.351 G=0.649
The PAGE Study PuertoRican Sub 7916 C=0.267 G=0.733
The PAGE Study NativeHawaiian Sub 4534 C=0.243 G=0.757
The PAGE Study Cuban Sub 4230 C=0.275 G=0.725
The PAGE Study Dominican Sub 3828 C=0.245 G=0.755
The PAGE Study CentralAmerican Sub 2450 C=0.245 G=0.755
The PAGE Study SouthAmerican Sub 1978 C=0.256 G=0.744
The PAGE Study NativeAmerican Sub 1260 C=0.260 G=0.740
The PAGE Study SouthAsian Sub 856 C=0.26 G=0.74
gnomAD - Genomes Global Study-wide 30282 C=0.2773 G=0.7227
gnomAD - Genomes European Sub 18162 C=0.3080 G=0.6920
gnomAD - Genomes African Sub 8468 C=0.202 G=0.798
gnomAD - Genomes East Asian Sub 1540 C=0.323 G=0.677
gnomAD - Genomes Other Sub 1028 C=0.307 G=0.693
gnomAD - Genomes American Sub 800 C=0.23 G=0.77
gnomAD - Genomes Ashkenazi Jewish Sub 284 C=0.35 G=0.65
1000Genomes Global Study-wide 5008 C=0.256 G=0.744
1000Genomes African Sub 1322 C=0.203 G=0.797
1000Genomes East Asian Sub 1008 C=0.324 G=0.676
1000Genomes Europe Sub 1006 C=0.272 G=0.728
1000Genomes South Asian Sub 978 C=0.24 G=0.76
1000Genomes American Sub 694 C=0.26 G=0.74
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.328 G=0.672
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.281 G=0.719
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.293 G=0.707
Northern Sweden ACPOP Study-wide 600 C=0.27 G=0.73
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 Note
GRCh38.p12 chr 19 NC_000019.10:g.40...

NC_000019.10:g.40246116=

NC_000019.10:g.40...

NC_000019.10:g.40246116C>A

NC_000019.10:g.40...

NC_000019.10:g.40246116C>G

GRCh37.p13 chr 19 NC_000019.9:g.407...

NC_000019.9:g.40752023=

NC_000019.9:g.407...

NC_000019.9:g.40752023C>A

NC_000019.9:g.407...

NC_000019.9:g.40752023C>G

AKT2 RefSeqGene (LRG_1391) NG_012038.2:g.44243= NG_012038.2:g.442...

NG_012038.2:g.44243G>T

NG_012038.2:g.442...

NG_012038.2:g.44243G>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#.

58 SubSNP, 8 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss12449825 Jul 11, 2003 (116)
2 CSHL-HAPMAP ss16786093 Feb 27, 2004 (120)
3 ABI ss44193809 Mar 13, 2006 (126)
4 HGSV ss77504368 Dec 07, 2007 (129)
5 BCMHGSC_JDW ss90974614 Mar 24, 2008 (129)
6 1000GENOMES ss115139849 Jan 25, 2009 (130)
7 ILLUMINA-UK ss117707052 Dec 01, 2009 (131)
8 ENSEMBL ss132764782 Dec 01, 2009 (131)
9 ENSEMBL ss137677308 Dec 01, 2009 (131)
10 GMI ss155903762 Dec 01, 2009 (131)
11 COMPLETE_GENOMICS ss168202469 Jul 04, 2010 (132)
12 COMPLETE_GENOMICS ss169750720 Jul 04, 2010 (132)
13 COMPLETE_GENOMICS ss171765003 Jul 04, 2010 (132)
14 BUSHMAN ss203755228 Jul 04, 2010 (132)
15 1000GENOMES ss228141767 Jul 14, 2010 (132)
16 1000GENOMES ss237678738 Jul 15, 2010 (132)
17 1000GENOMES ss243884546 Jul 15, 2010 (132)
18 BL ss255677983 May 09, 2011 (134)
19 GMI ss283211114 May 04, 2012 (137)
20 GMI ss287383501 Apr 25, 2013 (138)
21 PJP ss292178192 May 09, 2011 (134)
22 TISHKOFF ss565985410 Apr 25, 2013 (138)
23 EVA-GONL ss994303482 Aug 21, 2014 (142)
24 JMKIDD_LAB ss1081906833 Aug 21, 2014 (142)
25 1000GENOMES ss1363179345 Aug 21, 2014 (142)
26 DDI ss1428404165 Apr 01, 2015 (144)
27 EVA_GENOME_DK ss1578641275 Apr 01, 2015 (144)
28 EVA_UK10K_ALSPAC ss1637976667 Apr 01, 2015 (144)
29 EVA_UK10K_TWINSUK ss1680970700 Apr 01, 2015 (144)
30 EVA_DECODE ss1698357137 Apr 01, 2015 (144)
31 HAMMER_LAB ss1809309338 Sep 08, 2015 (146)
32 WEILL_CORNELL_DGM ss1937797221 Feb 12, 2016 (147)
33 ILLUMINA ss1959864296 Feb 12, 2016 (147)
34 GENOMED ss1968644582 Jul 19, 2016 (147)
35 JJLAB ss2029677980 Sep 14, 2016 (149)
36 USC_VALOUEV ss2158218263 Dec 20, 2016 (150)
37 HUMAN_LONGEVITY ss2225795143 Dec 20, 2016 (150)
38 TOPMED ss2391511744 Dec 20, 2016 (150)
39 SYSTEMSBIOZJU ss2629336326 Nov 08, 2017 (151)
40 GRF ss2702829168 Nov 08, 2017 (151)
41 GNOMAD ss2962908054 Nov 08, 2017 (151)
42 SWEGEN ss3017478752 Nov 08, 2017 (151)
43 ILLUMINA ss3021906069 Nov 08, 2017 (151)
44 BIOINF_KMB_FNS_UNIBA ss3028670649 Nov 08, 2017 (151)
45 TOPMED ss3293384266 Nov 08, 2017 (151)
46 TOPMED ss3293384267 Nov 08, 2017 (151)
47 CSHL ss3352304580 Nov 08, 2017 (151)
48 URBANLAB ss3650919042 Oct 12, 2018 (152)
49 ILLUMINA ss3652332025 Oct 12, 2018 (152)
50 EGCUT_WGS ss3684245598 Jul 13, 2019 (153)
51 ILLUMINA ss3725729238 Jul 13, 2019 (153)
52 ACPOP ss3743042442 Jul 13, 2019 (153)
53 EVA ss3756069216 Jul 13, 2019 (153)
54 PAGE_CC ss3772013806 Jul 13, 2019 (153)
55 PACBIO ss3788532291 Jul 13, 2019 (153)
56 PACBIO ss3793442564 Jul 13, 2019 (153)
57 PACBIO ss3798329366 Jul 13, 2019 (153)
58 KHV_HUMAN_GENOMES ss3821317411 Jul 13, 2019 (153)
59 1000Genomes NC_000019.9 - 40752023 Oct 12, 2018 (152)
60 The Avon Longitudinal Study of Parents and Children NC_000019.9 - 40752023 Oct 12, 2018 (152)
61 Genetic variation in the Estonian population NC_000019.9 - 40752023 Oct 12, 2018 (152)
62 gnomAD - Genomes NC_000019.9 - 40752023 Jul 13, 2019 (153)
63 Northern Sweden NC_000019.9 - 40752023 Jul 13, 2019 (153)
64 The PAGE Study NC_000019.10 - 40246116 Jul 13, 2019 (153)
65 TopMed NC_000019.10 - 40246116 Oct 12, 2018 (152)
66 UK 10K study - Twins NC_000019.9 - 40752023 Oct 12, 2018 (152)
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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3293384266 NC_000019.10:40246115:C:A NC_000019.10:40246115:C:A (self)
ss77504368, ss90974614, ss115139849, ss117707052, ss168202469, ss169750720, ss171765003, ss203755228, ss255677983, ss283211114, ss287383501, ss292178192, ss1698357137 NC_000019.8:45443862:C:G NC_000019.10:40246115:C:G (self)
76587266, 42419340, 29983846, 209064861, 16327307, 42419340, ss228141767, ss237678738, ss243884546, ss565985410, ss994303482, ss1081906833, ss1363179345, ss1428404165, ss1578641275, ss1637976667, ss1680970700, ss1809309338, ss1937797221, ss1959864296, ss1968644582, ss2029677980, ss2158218263, ss2391511744, ss2629336326, ss2702829168, ss2962908054, ss3017478752, ss3021906069, ss3352304580, ss3652332025, ss3684245598, ss3743042442, ss3756069216, ss3788532291, ss3793442564, ss3798329366 NC_000019.9:40752022:C:G NC_000019.10:40246115:C:G (self)
1235275, 181223906, ss2225795143, ss3028670649, ss3293384267, ss3650919042, ss3725729238, ss3772013806, ss3821317411 NC_000019.10:40246115:C:G NC_000019.10:40246115:C:G (self)
ss12449825, ss16786093 NT_011109.15:13020240:C:G NC_000019.10:40246115:C:G (self)
ss44193809, ss132764782, ss137677308, ss155903762 NT_011109.16:13020240:C:G NC_000019.10:40246115:C:G (self)
Help

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

9 citations for rs8100018
PMID Title Author Year Journal
18768676 First evidence of genetic association between AKT2 and polycystic ovary syndrome. Goodarzi MO et al. 2008 Diabetes care
19164214 Genetic variations in the PI3K/PTEN/AKT/mTOR pathway are associated with clinical outcomes in esophageal cancer patients treated with chemoradiotherapy. Hildebrandt MA et al. 2009 Journal of clinical oncology
20447721 PI3K/PTEN/AKT/mTOR pathway genetic variation predicts toxicity and distant progression in lung cancer patients receiving platinum-based chemotherapy. Pu X et al. 2011 Lung cancer (Amsterdam, Netherlands)
22146979 Roles of genetic variants in the PI3K and RAS/RAF pathways in susceptibility to endometrial cancer and clinical outcomes. Wang LE et al. 2012 Journal of cancer research and clinical oncology
24421178 PI3K/PTEN/AKT/mTOR polymorphisms: association with clinical outcome in patients with head and neck squamous cell carcinoma receiving cetuximab-docetaxel. Pfisterer K et al. 2015 Head & neck
27187382 Sirolimus and Everolimus Pathway: Reviewing Candidate Genes Influencing Their Intracellular Effects. Granata S et al. 2016 International journal of molecular sciences
28117391 Functional PTGS2 polymorphism-based models as novel predictive markers in metastatic renal cell carcinoma patients receiving first-line sunitinib. Cebrián A et al. 2017 Scientific reports
29581786 Genetic variations in the PI3K/PTEN/AKT/mTOR pathway predict tumor response and disease-free survival in locally advanced rectal cancer patients receiving preoperative chemoradiotherapy and radical surgery. Peng J et al. 2018 Journal of Cancer
31236747 Impact of the gene-gene interactions related to the HIF-1α signaling pathway with the knee osteoarthritis development. Fernández-Torres J et al. 2019 Clinical rheumatology

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.post246+3cda961