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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.

rs3730051

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr19:40238790 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.24028 (30171/125568, TOPMED)
C=0.2513 (7847/31224, GnomAD)
C=0.224 (1122/5008, 1000G) (+ 4 more)
C=0.297 (1331/4480, Estonian)
C=0.234 (900/3854, ALSPAC)
C=0.248 (920/3708, TWINSUK)
C=0.25 (150/600, NorthernSweden)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
AKT2 : Intron Variant
Publications
2 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.40238790T>C
GRCh37.p13 chr 19 NC_000019.9:g.40744697T>C
AKT2 RefSeqGene (LRG_1391) NG_012038.2:g.51569A>G
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").

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Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 125568 T=0.75972 C=0.24028
gnomAD - Genomes Global Study-wide 31224 T=0.7487 C=0.2513
gnomAD - Genomes European Sub 18790 T=0.7214 C=0.2786
gnomAD - Genomes African Sub 8672 T=0.814 C=0.186
gnomAD - Genomes East Asian Sub 1552 T=0.732 C=0.268
gnomAD - Genomes Other Sub 1076 T=0.724 C=0.276
gnomAD - Genomes American Sub 846 T=0.79 C=0.21
gnomAD - Genomes Ashkenazi Jewish Sub 288 T=0.65 C=0.35
1000Genomes Global Study-wide 5008 T=0.776 C=0.224
1000Genomes African Sub 1322 T=0.809 C=0.191
1000Genomes East Asian Sub 1008 T=0.711 C=0.289
1000Genomes Europe Sub 1006 T=0.755 C=0.245
1000Genomes South Asian Sub 978 T=0.84 C=0.16
1000Genomes American Sub 694 T=0.75 C=0.25
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.703 C=0.297
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.766 C=0.234
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.752 C=0.248
Northern Sweden ACPOP Study-wide 600 T=0.75 C=0.25
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 T= C Note
GRCh38.p12 chr 19 NC_000019.10:g.40238790= NC_000019.10:g.40238790T>C
GRCh37.p13 chr 19 NC_000019.9:g.40744697= NC_000019.9:g.40744697T>C
AKT2 RefSeqGene (LRG_1391) NG_012038.2:g.51569= NG_012038.2:g.51569A>G
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#.

62 SubSNP, 7 Frequency submissions
No Submitter Submission ID Date (Build)
1 WIPGA ss4915994 Aug 28, 2002 (107)
2 WI_SSAHASNP ss12458512 Jul 11, 2003 (116)
3 CSHL-HAPMAP ss17614792 Feb 27, 2004 (120)
4 PERLEGEN ss24197079 Sep 20, 2004 (123)
5 IMCJ-GDT ss28501142 Sep 24, 2004 (126)
6 ABI ss44172306 Mar 11, 2006 (126)
7 ILLUMINA ss65776702 Oct 14, 2006 (127)
8 ILLUMINA ss74908350 Dec 07, 2007 (129)
9 HGSV ss79007276 Dec 07, 2007 (129)
10 SHGC ss95216944 Feb 04, 2009 (130)
11 HUMANGENOME_JCVI ss96306735 Feb 04, 2009 (130)
12 ILLUMINA-UK ss117707049 Feb 14, 2009 (130)
13 KRIBB_YJKIM ss119456994 Dec 01, 2009 (131)
14 ENSEMBL ss136264094 Dec 01, 2009 (131)
15 COMPLETE_GENOMICS ss171764992 Jul 04, 2010 (132)
16 ILLUMINA ss173612074 Jul 04, 2010 (132)
17 BCM-HGSC-SUB ss208448694 Jul 04, 2010 (132)
18 1000GENOMES ss228141760 Jul 14, 2010 (132)
19 1000GENOMES ss237678732 Jul 15, 2010 (132)
20 1000GENOMES ss243884544 Jul 15, 2010 (132)
21 ILLUMINA ss244295980 Jul 04, 2010 (132)
22 GMI ss283211107 May 04, 2012 (137)
23 PJP ss292178189 May 09, 2011 (134)
24 ILLUMINA ss537184140 Sep 08, 2015 (146)
25 TISHKOFF ss565985393 Apr 25, 2013 (138)
26 SSMP ss661850134 Apr 25, 2013 (138)
27 EVA-GONL ss994303454 Aug 21, 2014 (142)
28 JMKIDD_LAB ss1081906814 Aug 21, 2014 (142)
29 1000GENOMES ss1363179155 Aug 21, 2014 (142)
30 DDI ss1428404162 Apr 01, 2015 (144)
31 EVA_GENOME_DK ss1578641269 Apr 01, 2015 (144)
32 EVA_UK10K_ALSPAC ss1637976571 Apr 01, 2015 (144)
33 EVA_UK10K_TWINSUK ss1680970604 Apr 01, 2015 (144)
34 EVA_DECODE ss1698357098 Apr 01, 2015 (144)
35 EVA_MGP ss1711513297 Apr 01, 2015 (144)
36 EVA_SVP ss1713662901 Apr 01, 2015 (144)
37 HAMMER_LAB ss1809309333 Sep 08, 2015 (146)
38 WEILL_CORNELL_DGM ss1937797191 Feb 12, 2016 (147)
39 JJLAB ss2029677966 Sep 14, 2016 (149)
40 USC_VALOUEV ss2158218254 Dec 20, 2016 (150)
41 HUMAN_LONGEVITY ss2225794735 Dec 20, 2016 (150)
42 TOPMED ss2391511299 Dec 20, 2016 (150)
43 SYSTEMSBIOZJU ss2629336325 Nov 08, 2017 (151)
44 ILLUMINA ss2635083620 Nov 08, 2017 (151)
45 GRF ss2702829155 Nov 08, 2017 (151)
46 GNOMAD ss2962907487 Nov 08, 2017 (151)
47 SWEGEN ss3017478687 Nov 08, 2017 (151)
48 BIOINF_KMB_FNS_UNIBA ss3028670647 Nov 08, 2017 (151)
49 TOPMED ss3293382939 Nov 08, 2017 (151)
50 CSHL ss3352304570 Nov 08, 2017 (151)
51 ILLUMINA ss3627933403 Oct 12, 2018 (152)
52 ILLUMINA ss3638227463 Oct 12, 2018 (152)
53 ILLUMINA ss3643200376 Oct 12, 2018 (152)
54 URBANLAB ss3650919037 Oct 12, 2018 (152)
55 EGCUT_WGS ss3684245517 Jul 13, 2019 (153)
56 EVA_DECODE ss3702775570 Jul 13, 2019 (153)
57 ACPOP ss3743042414 Jul 13, 2019 (153)
58 EVA ss3756069162 Jul 13, 2019 (153)
59 PACBIO ss3788532284 Jul 13, 2019 (153)
60 PACBIO ss3793442561 Jul 13, 2019 (153)
61 PACBIO ss3798329363 Jul 13, 2019 (153)
62 KHV_HUMAN_GENOMES ss3821317375 Jul 13, 2019 (153)
63 1000Genomes NC_000019.9 - 40744697 Oct 12, 2018 (152)
64 The Avon Longitudinal Study of Parents and Children NC_000019.9 - 40744697 Oct 12, 2018 (152)
65 Genetic variation in the Estonian population NC_000019.9 - 40744697 Oct 12, 2018 (152)
66 gnomAD - Genomes NC_000019.9 - 40744697 Jul 13, 2019 (153)
67 Northern Sweden NC_000019.9 - 40744697 Jul 13, 2019 (153)
68 TopMed NC_000019.10 - 40238790 Oct 12, 2018 (152)
69 UK 10K study - Twins NC_000019.9 - 40744697 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).

Associated ID History Updated (Build)
rs17725850 Oct 08, 2004 (123)
rs17846840 Mar 11, 2006 (126)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss79007276, ss117707049, ss171764992, ss208448694, ss283211107, ss292178189, ss1698357098, ss1713662901, ss2635083620, ss3643200376 NC_000019.8:45436536:T:C NC_000019.10:40238789:T:C (self)
76587073, 42419237, 29983765, 209064293, 16327279, 42419237, ss228141760, ss237678732, ss243884544, ss537184140, ss565985393, ss661850134, ss994303454, ss1081906814, ss1363179155, ss1428404162, ss1578641269, ss1637976571, ss1680970604, ss1711513297, ss1809309333, ss1937797191, ss2029677966, ss2158218254, ss2391511299, ss2629336325, ss2702829155, ss2962907487, ss3017478687, ss3352304570, ss3627933403, ss3638227463, ss3684245517, ss3743042414, ss3756069162, ss3788532284, ss3793442561, ss3798329363 NC_000019.9:40744696:T:C NC_000019.10:40238789:T:C (self)
181222809, ss2225794735, ss3028670647, ss3293382939, ss3650919037, ss3702775570, ss3821317375 NC_000019.10:40238789:T:C NC_000019.10:40238789:T:C (self)
ss12458512, ss17614792 NT_011109.15:13012914:T:C NC_000019.10:40238789:T:C (self)
ss4915994, ss24197079, ss28501142, ss44172306, ss65776702, ss74908350, ss95216944, ss96306735, ss119456994, ss136264094, ss173612074, ss244295980 NT_011109.16:13012914:T:C NC_000019.10:40238789:T:C (self)
Help

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

2 citations for rs3730051
PMID Title Author Year Journal
18768676 First evidence of genetic association between AKT2 and polycystic ovary syndrome. Goodarzi MO et al. 2008 Diabetes care
27187382 Sirolimus and Everolimus Pathway: Reviewing Candidate Genes Influencing Their Intracellular Effects. Granata S et al. 2016 International journal of molecular sciences

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