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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.

rs701848

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:87966988 (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
T>A / T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.320057 (84716/264690, TOPMED)
C=0.326189 (43725/134048, GnomAD)
C=0.26723 (5631/21072, ALFA) (+ 18 more)
C=0.41924 (7024/16754, 8.3KJPN)
C=0.3734 (1870/5008, 1000G)
C=0.4566 (2043/4474, Estonian)
C=0.4069 (1568/3854, ALSPAC)
C=0.3919 (1453/3708, TWINSUK)
C=0.4686 (1372/2928, KOREAN)
C=0.4743 (869/1832, Korea1K)
C=0.2848 (507/1780, HapMap)
C=0.423 (422/998, GoNL)
C=0.454 (358/788, PRJEB37584)
C=0.492 (308/626, Chileans)
C=0.417 (250/600, NorthernSweden)
C=0.320 (171/534, MGP)
T=0.343 (98/286, SGDP_PRJ)
C=0.250 (54/216, Qatari)
T=0.31 (13/42, Siberian)
C=0.35 (14/40, GENOME_DK)
C=0.37 (14/38, Ancient Sardinia)
Clinical Significance
Reported in ClinVar
Gene : Consequence
PTEN : 3 Prime UTR Variant
Publications
19 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.87966988T>A
GRCh38.p13 chr 10 NC_000010.11:g.87966988T>C
GRCh38.p13 chr 10 NC_000010.11:g.87966988T>G
GRCh37.p13 chr 10 NC_000010.10:g.89726745T>A
GRCh37.p13 chr 10 NC_000010.10:g.89726745T>C
GRCh37.p13 chr 10 NC_000010.10:g.89726745T>G
PTEN RefSeqGene (LRG_311) NG_007466.2:g.108550T>A
PTEN RefSeqGene (LRG_311) NG_007466.2:g.108550T>C
PTEN RefSeqGene (LRG_311) NG_007466.2:g.108550T>G
chr 10 fix patch HG2334_PATCH NW_013171807.1:g.182777T>A
chr 10 fix patch HG2334_PATCH NW_013171807.1:g.182777T>C
chr 10 fix patch HG2334_PATCH NW_013171807.1:g.182777T>G
Gene: PTEN, phosphatase and tensin homolog (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PTEN transcript variant 2 NM_001304718.2:c.*1516= N/A 3 Prime UTR Variant
PTEN transcript variant 1 NM_001304717.5:c.*1516= N/A 3 Prime UTR Variant
PTEN transcript variant 1 NM_000314.8:c.*1516= N/A 3 Prime UTR 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.

Allele: C (allele ID: 323162 )
ClinVar Accession Disease Names Clinical Significance
RCV000301364.2 PTEN hamartoma tumor syndrome Benign

ALFA Allele Frequency (New)
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 21072 T=0.73277 C=0.26723, G=0.00000
European Sub 11438 T=0.67337 C=0.32663, G=0.00000
African Sub 5494 T=0.9021 C=0.0979, G=0.0000
African Others Sub 190 T=0.926 C=0.074, G=0.000
African American Sub 5304 T=0.9012 C=0.0988, G=0.0000
Asian Sub 90 T=0.71 C=0.29, G=0.00
East Asian Sub 50 T=0.80 C=0.20, G=0.00
Other Asian Sub 40 T=0.60 C=0.40, G=0.00
Latin American 1 Sub 212 T=0.745 C=0.255, G=0.000
Latin American 2 Sub 2388 T=0.6545 C=0.3455, G=0.0000
South Asian Sub 30 T=0.57 C=0.43, G=0.00
Other Sub 1420 T=0.6908 C=0.3092, G=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 T=0.679943 C=0.320057
gnomAD - Genomes Global Study-wide 134048 T=0.673811 C=0.326189
gnomAD - Genomes European Sub 73042 T=0.58584 C=0.41416
gnomAD - Genomes African Sub 40160 T=0.84796 C=0.15204
gnomAD - Genomes American Sub 12480 T=0.65569 C=0.34431
gnomAD - Genomes Ashkenazi Jewish Sub 3286 T=0.6604 C=0.3396
gnomAD - Genomes East Asian Sub 3054 T=0.5760 C=0.4240
gnomAD - Genomes Other Sub 2026 T=0.6742 C=0.3258
Allele Frequency Aggregator Total Global 21072 T=0.73277 C=0.26723, G=0.00000
Allele Frequency Aggregator European Sub 11438 T=0.67337 C=0.32663, G=0.00000
Allele Frequency Aggregator African Sub 5494 T=0.9021 C=0.0979, G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 2388 T=0.6545 C=0.3455, G=0.0000
Allele Frequency Aggregator Other Sub 1420 T=0.6908 C=0.3092, G=0.0000
Allele Frequency Aggregator Latin American 1 Sub 212 T=0.745 C=0.255, G=0.000
Allele Frequency Aggregator Asian Sub 90 T=0.71 C=0.29, G=0.00
Allele Frequency Aggregator South Asian Sub 30 T=0.57 C=0.43, G=0.00
8.3KJPN JAPANESE Study-wide 16754 T=0.58076 C=0.41924
1000Genomes Global Study-wide 5008 T=0.6266 C=0.3734
1000Genomes African Sub 1322 T=0.8790 C=0.1210
1000Genomes East Asian Sub 1008 T=0.5774 C=0.4226
1000Genomes Europe Sub 1006 T=0.6083 C=0.3917
1000Genomes South Asian Sub 978 T=0.345 C=0.655
1000Genomes American Sub 694 T=0.641 C=0.359
Genetic variation in the Estonian population Estonian Study-wide 4474 T=0.5434 C=0.4566
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.5931 C=0.4069
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.6081 C=0.3919
KOREAN population from KRGDB KOREAN Study-wide 2928 T=0.5314 A=0.0000, C=0.4686
Korean Genome Project KOREAN Study-wide 1832 T=0.5257 C=0.4743
HapMap Global Study-wide 1780 T=0.7152 C=0.2848
HapMap African Sub 690 T=0.923 C=0.077
HapMap American Sub 662 T=0.585 C=0.415
HapMap Asian Sub 252 T=0.579 C=0.421
HapMap Europe Sub 176 T=0.585 C=0.415
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.577 C=0.423
CNV burdens in cranial meningiomas Global Study-wide 788 T=0.546 C=0.454
CNV burdens in cranial meningiomas CRM Sub 788 T=0.546 C=0.454
Chileans Chilean Study-wide 626 T=0.508 C=0.492
Northern Sweden ACPOP Study-wide 600 T=0.583 C=0.417
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.680 C=0.320
SGDP_PRJ Global Study-wide 286 T=0.343 C=0.657
Qatari Global Study-wide 216 T=0.750 C=0.250
Siberian Global Study-wide 42 T=0.31 C=0.69
The Danish reference pan genome Danish Study-wide 40 T=0.65 C=0.35
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 38 T=0.63 C=0.37
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= A C G
GRCh38.p13 chr 10 NC_000010.11:g.87966988= NC_000010.11:g.87966988T>A NC_000010.11:g.87966988T>C NC_000010.11:g.87966988T>G
GRCh37.p13 chr 10 NC_000010.10:g.89726745= NC_000010.10:g.89726745T>A NC_000010.10:g.89726745T>C NC_000010.10:g.89726745T>G
PTEN RefSeqGene (LRG_311) NG_007466.2:g.108550= NG_007466.2:g.108550T>A NG_007466.2:g.108550T>C NG_007466.2:g.108550T>G
PTEN transcript variant 1 NM_000314.8:c.*1516= NM_000314.8:c.*1516T>A NM_000314.8:c.*1516T>C NM_000314.8:c.*1516T>G
PTEN transcript variant 1 NM_000314.7:c.*1516= NM_000314.7:c.*1516T>A NM_000314.7:c.*1516T>C NM_000314.7:c.*1516T>G
PTEN transcript variant 1 NM_000314.6:c.*1516= NM_000314.6:c.*1516T>A NM_000314.6:c.*1516T>C NM_000314.6:c.*1516T>G
PTEN transcript NM_000314.4:c.*1516= NM_000314.4:c.*1516T>A NM_000314.4:c.*1516T>C NM_000314.4:c.*1516T>G
PTEN transcript variant 1 NM_001304717.5:c.*1516= NM_001304717.5:c.*1516T>A NM_001304717.5:c.*1516T>C NM_001304717.5:c.*1516T>G
PTEN transcript variant 1 NM_001304717.4:c.*1516= NM_001304717.4:c.*1516T>A NM_001304717.4:c.*1516T>C NM_001304717.4:c.*1516T>G
PTEN transcript variant 1 NM_001304717.3:c.*1516= NM_001304717.3:c.*1516T>A NM_001304717.3:c.*1516T>C NM_001304717.3:c.*1516T>G
PTEN transcript variant 1 NM_001304717.2:c.*1516= NM_001304717.2:c.*1516T>A NM_001304717.2:c.*1516T>C NM_001304717.2:c.*1516T>G
PTEN transcript variant 2 NM_001304718.2:c.*1516= NM_001304718.2:c.*1516T>A NM_001304718.2:c.*1516T>C NM_001304718.2:c.*1516T>G
PTEN transcript variant 2 NM_001304718.1:c.*1516= NM_001304718.1:c.*1516T>A NM_001304718.1:c.*1516T>C NM_001304718.1:c.*1516T>G
chr 10 fix patch HG2334_PATCH NW_013171807.1:g.182777= NW_013171807.1:g.182777T>A NW_013171807.1:g.182777T>C NW_013171807.1:g.182777T>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#.

78 SubSNP, 21 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 KWOK ss1038075 Oct 04, 2000 (86)
2 LEE ss1529836 Oct 04, 2000 (86)
3 TSC-CSHL ss3069273 Jun 15, 2001 (96)
4 SC_JCM ss3773695 Sep 28, 2001 (100)
5 LEE ss4419381 May 29, 2002 (106)
6 SNP500CANCER ss5586850 Mar 31, 2003 (113)
7 SC_SNP ss12982616 Dec 05, 2003 (119)
8 SC_SNP ss15886913 Feb 27, 2004 (120)
9 CGAP-GAI ss16251758 Feb 27, 2004 (120)
10 CSHL-HAPMAP ss16462639 Feb 27, 2004 (120)
11 SSAHASNP ss20614136 Apr 05, 2004 (121)
12 PERLEGEN ss24541426 Sep 20, 2004 (123)
13 EGP_SNPS ss38349853 Mar 13, 2006 (126)
14 ABI ss38543485 Mar 13, 2006 (126)
15 PERLEGEN ss69086726 May 18, 2007 (127)
16 SI_EXO ss71643128 May 18, 2007 (127)
17 AFFY ss76429167 Dec 07, 2007 (129)
18 HUMANGENOME_JCVI ss97573560 Feb 05, 2009 (130)
19 BGI ss102899716 Dec 01, 2009 (131)
20 KRIBB_YJKIM ss104824382 Feb 05, 2009 (130)
21 1000GENOMES ss109634392 Jan 24, 2009 (130)
22 ENSEMBL ss137902032 Dec 01, 2009 (131)
23 ILLUMINA ss169064352 Jul 04, 2010 (132)
24 1000GENOMES ss224860500 Jul 14, 2010 (132)
25 1000GENOMES ss235274507 Jul 15, 2010 (132)
26 1000GENOMES ss241961758 Jul 15, 2010 (132)
27 BL ss254497011 May 09, 2011 (134)
28 GMI ss280714862 May 04, 2012 (137)
29 PJP ss290890288 May 09, 2011 (134)
30 ILLUMINA ss536443483 Sep 08, 2015 (146)
31 TISHKOFF ss562115217 Apr 25, 2013 (138)
32 SSMP ss657123267 Apr 25, 2013 (138)
33 EVA-GONL ss987754603 Aug 21, 2014 (142)
34 JMKIDD_LAB ss1077180486 Aug 21, 2014 (142)
35 1000GENOMES ss1338439631 Aug 21, 2014 (142)
36 DDI ss1426397490 Apr 01, 2015 (144)
37 EVA_GENOME_DK ss1575269332 Apr 01, 2015 (144)
38 EVA_DECODE ss1597427365 Apr 01, 2015 (144)
39 EVA_UK10K_ALSPAC ss1625094817 Apr 01, 2015 (144)
40 EVA_UK10K_TWINSUK ss1668088850 Apr 01, 2015 (144)
41 EVA_MGP ss1711264012 Apr 01, 2015 (144)
42 EVA_SVP ss1713198920 Apr 01, 2015 (144)
43 HAMMER_LAB ss1806500748 Sep 08, 2015 (146)
44 WEILL_CORNELL_DGM ss1931122879 Feb 12, 2016 (147)
45 GENOMED ss1967189170 Jul 19, 2016 (147)
46 JJLAB ss2026289189 Sep 14, 2016 (149)
47 USC_VALOUEV ss2154564580 Dec 20, 2016 (150)
48 HUMAN_LONGEVITY ss2176768801 Dec 20, 2016 (150)
49 TOPMED ss2339872293 Dec 20, 2016 (150)
50 SYSTEMSBIOZJU ss2627613672 Nov 08, 2017 (151)
51 ILLUMINA ss2635017558 Nov 08, 2017 (151)
52 GRF ss2698815895 Nov 08, 2017 (151)
53 GNOMAD ss2891608565 Nov 08, 2017 (151)
54 SWEGEN ss3006889993 Nov 08, 2017 (151)
55 BIOINF_KMB_FNS_UNIBA ss3026934159 Nov 08, 2017 (151)
56 TOPMED ss3126322763 Nov 08, 2017 (151)
57 CSHL ss3349240483 Nov 08, 2017 (151)
58 ILLUMINA ss3626499456 Oct 12, 2018 (152)
59 ILLUMINA ss3637864280 Oct 12, 2018 (152)
60 URBANLAB ss3649431389 Oct 12, 2018 (152)
61 EGCUT_WGS ss3674299747 Jul 13, 2019 (153)
62 EVA_DECODE ss3690370092 Jul 13, 2019 (153)
63 ACPOP ss3737543977 Jul 13, 2019 (153)
64 EVA ss3748412298 Jul 13, 2019 (153)
65 PACBIO ss3786744160 Jul 13, 2019 (153)
66 PACBIO ss3791913901 Jul 13, 2019 (153)
67 PACBIO ss3796796008 Jul 13, 2019 (153)
68 KHV_HUMAN_GENOMES ss3813779703 Jul 13, 2019 (153)
69 EVA ss3825779611 Apr 26, 2020 (154)
70 EVA ss3832252784 Apr 26, 2020 (154)
71 SGDP_PRJ ss3874733774 Apr 26, 2020 (154)
72 KRGDB ss3922849703 Apr 26, 2020 (154)
73 KOGIC ss3968370715 Apr 26, 2020 (154)
74 EVA ss3984638223 Apr 26, 2021 (155)
75 EVA ss3985490356 Apr 26, 2021 (155)
76 EVA ss3986051090 Apr 26, 2021 (155)
77 TOPMED ss4861022342 Apr 26, 2021 (155)
78 TOMMO_GENOMICS ss5198763094 Apr 26, 2021 (155)
79 1000Genomes NC_000010.10 - 89726745 Oct 12, 2018 (152)
80 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 89726745 Oct 12, 2018 (152)
81 Chileans NC_000010.10 - 89726745 Apr 26, 2020 (154)
82 Genetic variation in the Estonian population NC_000010.10 - 89726745 Oct 12, 2018 (152)
83 The Danish reference pan genome NC_000010.10 - 89726745 Apr 26, 2020 (154)
84 gnomAD - Genomes NC_000010.11 - 87966988 Apr 26, 2021 (155)
85 Genome of the Netherlands Release 5 NC_000010.10 - 89726745 Apr 26, 2020 (154)
86 HapMap NC_000010.11 - 87966988 Apr 26, 2020 (154)
87 KOREAN population from KRGDB NC_000010.10 - 89726745 Apr 26, 2020 (154)
88 Korean Genome Project NC_000010.11 - 87966988 Apr 26, 2020 (154)
89 Medical Genome Project healthy controls from Spanish population NC_000010.10 - 89726745 Apr 26, 2020 (154)
90 Northern Sweden NC_000010.10 - 89726745 Jul 13, 2019 (153)
91 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000010.10 - 89726745 Apr 26, 2021 (155)
92 CNV burdens in cranial meningiomas NC_000010.10 - 89726745 Apr 26, 2021 (155)
93 Qatari NC_000010.10 - 89726745 Apr 26, 2020 (154)
94 SGDP_PRJ NC_000010.10 - 89726745 Apr 26, 2020 (154)
95 Siberian NC_000010.10 - 89726745 Apr 26, 2020 (154)
96 8.3KJPN NC_000010.10 - 89726745 Apr 26, 2021 (155)
97 TopMed NC_000010.11 - 87966988 Apr 26, 2021 (155)
98 UK 10K study - Twins NC_000010.10 - 89726745 Oct 12, 2018 (152)
99 ALFA NC_000010.11 - 87966988 Apr 26, 2021 (155)
100 ClinVar RCV000301364.2 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)
rs3193466 Jul 03, 2002 (106)
rs17346569 Oct 08, 2004 (123)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
30027097, ss3922849703 NC_000010.10:89726744:T:A NC_000010.11:87966987:T:A (self)
ss109634392, ss254497011, ss280714862, ss290890288, ss1597427365, ss1713198920, ss2635017558 NC_000010.9:89716724:T:C NC_000010.11:87966987:T:C (self)
50864057, 28233926, 57126, 20037995, 2263950, 12590599, 30027097, 379772, 10828842, 716283, 187687, 13164809, 26750754, 7080934, 56732401, 28233926, ss224860500, ss235274507, ss241961758, ss536443483, ss562115217, ss657123267, ss987754603, ss1077180486, ss1338439631, ss1426397490, ss1575269332, ss1625094817, ss1668088850, ss1711264012, ss1806500748, ss1931122879, ss1967189170, ss2026289189, ss2154564580, ss2339872293, ss2627613672, ss2698815895, ss2891608565, ss3006889993, ss3349240483, ss3626499456, ss3637864280, ss3674299747, ss3737543977, ss3748412298, ss3786744160, ss3791913901, ss3796796008, ss3825779611, ss3832252784, ss3874733774, ss3922849703, ss3984638223, ss3985490356, ss3986051090, ss5198763094 NC_000010.10:89726744:T:C NC_000010.11:87966987:T:C (self)
RCV000301364.2, 359402497, 457909, 24748716, 48131631, 76567997, 702433743, ss2176768801, ss3026934159, ss3126322763, ss3649431389, ss3690370092, ss3813779703, ss3968370715, ss4861022342 NC_000010.11:87966987:T:C NC_000010.11:87966987:T:C (self)
ss12982616 NT_030059.10:8165292:T:C NC_000010.11:87966987:T:C (self)
ss15886913, ss16462639, ss20614136 NT_030059.11:8475260:T:C NC_000010.11:87966987:T:C (self)
ss1038075, ss1529836, ss3069273, ss3773695, ss4419381, ss5586850, ss16251758, ss24541426, ss38349853, ss38543485, ss69086726, ss71643128, ss76429167, ss97573560, ss102899716, ss104824382, ss137902032, ss169064352 NT_030059.13:40531208:T:C NC_000010.11:87966987:T:C (self)
702433743 NC_000010.11:87966987:T:G NC_000010.11:87966987:T:G
Help

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

19 citations for rs701848
PMID Title Author Year Journal
17033968 Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes. Pezzolesi MG et al. 2006 American journal of human genetics
18805939 Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis. Tempfer CB et al. 2009 Human reproduction update
19237173 Bcl2 -938C/A polymorphism carries increased risk of biochemical recurrence after radical prostatectomy. Hirata H et al. 2009 The Journal of urology
19625176 PTEN identified as important risk factor of chronic obstructive pulmonary disease. Hosgood HD 3rd et al. 2009 Respiratory medicine
21138334 Association of PTEN polymorphisms with susceptibility to hepatocellular carcinoma in a Han Chinese population. Ding J et al. 2011 DNA and cell biology
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
22336889 Association of genetic polymorphisms in MDM2, PTEN and P53 with risk of esophageal squamous cell carcinoma. Ma J et al. 2012 Journal of human genetics
22815832 Genetic variations in a PTEN/AKT/mTOR axis and prostate cancer risk in a Chinese population. Chen J et al. 2012 PloS one
23209702 A functional variant in the MTOR promoter modulates its expression and is associated with renal cell cancer risk. Cao Q et al. 2012 PloS one
24737346 A GG allele of 3'-side AKT1 SNP is associated with decreased AKT1 activation and better prognosis of gastric cancer. Wang X et al. 2014 Journal of cancer research and clinical oncology
26541596 Association of genetic polymorphisms in PTEN and additional gene-gene interaction with risk of esophageal squamous cell carcinoma in Chinese Han population. Xu X et al. 2016 Diseases of the esophagus
26695147 PTEN polymorphisms contribute to clinical outcomes of advanced lung adenocarcinoma patients treated with platinum-based chemotherapy. Yang Y et al. 2016 Tumour biology
27187382 Sirolimus and Everolimus Pathway: Reviewing Candidate Genes Influencing Their Intracellular Effects. Granata S et al. 2016 International journal of molecular sciences
27677222 Correlations of PTEN genetic polymorphisms with the risk of depression and depressive symptoms in a Chinese population. Liu LJ et al. 2016 Gene
27876891 Genetic variations in the PI3K-PTEN-AKT-mTOR pathway are associated with distant metastasis in nasopharyngeal carcinoma patients treated with intensity-modulated radiation therapy. Guo Q et al. 2016 Scientific reports
28423632 The genetic variants in the PTEN/PI3K/AKT pathway predict susceptibility and CE(A)F chemotherapy response to breast cancer and clinical outcomes. Li X et al. 2017 Oncotarget
29221206 Single nucleotide polymorphisms rs701848 and rs2735343 in PTEN increases cancer risks in an Asian population. Song DD et al. 2017 Oncotarget
29259266 Associations of genetic polymorphisms in pTEN/AKT/mTOR signaling pathway genes with cancer risk: A meta-analysis in Asian population. Zhang Z et al. 2017 Scientific reports
31269493 Single Nucleotide Polymorphisms in MicroRNA-Binding Site of Epidermal Growth Factor Receptor Signaling Pathway and Susceptibility to Esophageal Squamous Cell Carcinoma. Qu Y et al. 2020 Digestive diseases (Basel, Switzerland)
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.post593+28e45f6