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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.

rs1903858

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr10:87893929 (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
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.389199 (48871/125568, TOPMED)
G=0.33714 (27548/81712, ALFA Project)
G=0.37343 (11430/30608, GnomAD) (+ 16 more)
G=0.4179 (2093/5008, 1000G)
G=0.2849 (1276/4478, Estonian)
G=0.3189 (1229/3854, ALSPAC)
G=0.3269 (1212/3708, TWINSUK)
G=0.4560 (1336/2930, KOREAN)
G=0.4487 (822/1832, Korea1K)
G=0.4627 (819/1770, HapMap)
G=0.327 (326/998, GoNL)
G=0.385 (231/600, NorthernSweden)
G=0.037 (20/534, MGP)
A=0.286 (110/384, SGDP_PRJ)
G=0.486 (105/216, Qatari)
A=0.490 (103/210, Vietnamese)
A=0.50 (20/40, GENOME_DK)
G=0.50 (20/40, GENOME_DK)
A=0.33 (10/30, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
PTEN : Intron Variant
Publications
6 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 10 NC_000010.11:g.87893929A>C
GRCh38.p12 chr 10 NC_000010.11:g.87893929A>G
GRCh38.p12 chr 10 NC_000010.11:g.87893929A>T
GRCh37.p13 chr 10 NC_000010.10:g.89653686A>C
GRCh37.p13 chr 10 NC_000010.10:g.89653686A>G
GRCh37.p13 chr 10 NC_000010.10:g.89653686A>T
PTEN RefSeqGene (LRG_311) NG_007466.2:g.35491A>C
PTEN RefSeqGene (LRG_311) NG_007466.2:g.35491A>G
PTEN RefSeqGene (LRG_311) NG_007466.2:g.35491A>T
chr 10 fix patch HG2334_PATCH NW_013171807.1:g.109752A>C
chr 10 fix patch HG2334_PATCH NW_013171807.1:g.109752A>G
chr 10 fix patch HG2334_PATCH NW_013171807.1:g.109752A>T
Gene: PTEN, phosphatase and tensin homolog (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PTEN transcript variant 1 NM_000314.8:c.80-96A>C N/A Intron Variant
PTEN transcript variant 1 NM_001304717.5:c.600-96A>C N/A Intron Variant
PTEN transcript variant 2 NM_001304718.2:c.-626-96A…

NM_001304718.2:c.-626-96A>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.

Allele: G (allele ID: 433072 )
ClinVar Accession Disease Names Clinical Significance
RCV000506596.2 not specified 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 143256 A=0.667030 G=0.332970
European Sub 122700 A=0.683733 G=0.316267
African Sub 6608 A=0.5288 G=0.4712
African Others Sub 238 A=0.508 G=0.492
African American Sub 6370 A=0.5295 G=0.4705
Asian Sub 620 A=0.492 G=0.508
East Asian Sub 488 A=0.471 G=0.529
Other Asian Sub 132 A=0.568 G=0.432
Latin American 1 Sub 734 A=0.590 G=0.410
Latin American 2 Sub 6236 A=0.5513 G=0.4487
South Asian Sub 184 A=0.685 G=0.315
Other Sub 6174 A=0.6262 G=0.3738


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 A=0.610801 G=0.389199
ALFA Total Global 81712 A=0.66286 G=0.33714
ALFA European Sub 70558 A=0.68038 G=0.31962
ALFA Latin American 2 Sub 5346 A=0.5503 G=0.4497
ALFA African Sub 2984 A=0.5318 G=0.4682
ALFA Other Sub 2026 A=0.5795 G=0.4205
ALFA Latin American 1 Sub 544 A=0.583 G=0.417
ALFA Asian Sub 196 A=0.520 G=0.480
ALFA South Asian Sub 58 A=0.62 G=0.38
gnomAD - Genomes Global Study-wide 30608 A=0.62657 G=0.37343
gnomAD - Genomes European Sub 18246 A=0.68278 G=0.31722
gnomAD - Genomes African Sub 8632 A=0.5334 G=0.4666
gnomAD - Genomes East Asian Sub 1550 A=0.5084 G=0.4916
gnomAD - Genomes Other Sub 1058 A=0.6427 G=0.3573
gnomAD - Genomes American Sub 832 A=0.570 G=0.430
gnomAD - Genomes Ashkenazi Jewish Sub 290 A=0.600 G=0.400
1000Genomes Global Study-wide 5008 A=0.5821 G=0.4179
1000Genomes African Sub 1322 A=0.5061 G=0.4939
1000Genomes East Asian Sub 1008 A=0.4950 G=0.5050
1000Genomes Europe Sub 1006 A=0.6521 G=0.3479
1000Genomes South Asian Sub 978 A=0.712 G=0.288
1000Genomes American Sub 694 A=0.569 G=0.431
Genetic variation in the Estonian population Estonian Study-wide 4478 A=0.7151 G=0.2849
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.6811 G=0.3189
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.6731 G=0.3269
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.5440 C=0.0000, G=0.4560, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 A=0.5513 G=0.4487
HapMap Global Study-wide 1770 A=0.5373 G=0.4627
HapMap African Sub 682 A=0.438 G=0.562
HapMap American Sub 662 A=0.604 G=0.396
HapMap Asian Sub 250 A=0.528 G=0.472
HapMap Europe Sub 176 A=0.682 G=0.318
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.673 G=0.327
Northern Sweden ACPOP Study-wide 600 A=0.615 G=0.385
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.963 G=0.037
SGDP_PRJ Global Study-wide 384 A=0.286 G=0.714
Qatari Global Study-wide 216 A=0.514 G=0.486
A Vietnamese Genetic Variation Database Global Study-wide 210 A=0.490 G=0.510
The Danish reference pan genome Danish Study-wide 40 A=0.50 G=0.50
Siberian Global Study-wide 30 A=0.33 G=0.67
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 A= C G T
GRCh38.p12 chr 10 NC_000010.11:g.87893929= NC_000010.11:g.87893929A>C NC_000010.11:g.87893929A>G NC_000010.11:g.87893929A>T
GRCh37.p13 chr 10 NC_000010.10:g.89653686= NC_000010.10:g.89653686A>C NC_000010.10:g.89653686A>G NC_000010.10:g.89653686A>T
PTEN RefSeqGene (LRG_311) NG_007466.2:g.35491= NG_007466.2:g.35491A>C NG_007466.2:g.35491A>G NG_007466.2:g.35491A>T
chr 10 fix patch HG2334_PATCH NW_013171807.1:g.109752= NW_013171807.1:g.109752A>C NW_013171807.1:g.109752A>G NW_013171807.1:g.109752A>T
PTEN transcript NM_000314.4:c.80-96= NM_000314.4:c.80-96A>C NM_000314.4:c.80-96A>G NM_000314.4:c.80-96A>T
PTEN transcript variant 1 NM_000314.6:c.80-96= NM_000314.6:c.80-96A>C NM_000314.6:c.80-96A>G NM_000314.6:c.80-96A>T
PTEN transcript variant 1 NM_000314.8:c.80-96= NM_000314.8:c.80-96A>C NM_000314.8:c.80-96A>G NM_000314.8:c.80-96A>T
PTEN transcript variant 1 NM_001304717.2:c.599-96= NM_001304717.2:c.599-96A>C NM_001304717.2:c.599-96A>G NM_001304717.2:c.599-96A>T
PTEN transcript variant 1 NM_001304717.5:c.600-96= NM_001304717.5:c.600-96A>C NM_001304717.5:c.600-96A>G NM_001304717.5:c.600-96A>T
PTEN transcript variant 2 NM_001304718.1:c.-626-96= NM_001304718.1:c.-626-96A>C NM_001304718.1:c.-626-96A>G NM_001304718.1:c.-626-96A>T
PTEN transcript variant 2 NM_001304718.2:c.-626-96= NM_001304718.2:c.-626-96A>C NM_001304718.2:c.-626-96A>G NM_001304718.2:c.-626-96A>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#.

100 SubSNP, 18 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2787378 Jan 12, 2001 (92)
2 YUSUKE ss3237058 Sep 28, 2001 (100)
3 SC_JCM ss3464781 Sep 28, 2001 (100)
4 WI_SSAHASNP ss12083906 Jul 11, 2003 (116)
5 SC_SNP ss16083263 Feb 27, 2004 (120)
6 PERLEGEN ss23639050 Sep 20, 2004 (123)
7 EGP_SNPS ss38349717 Mar 13, 2006 (126)
8 ABI ss38636209 Mar 13, 2006 (126)
9 SNP500CANCER ss48296530 Mar 13, 2006 (126)
10 ILLUMINA ss65758116 Oct 15, 2006 (127)
11 PERLEGEN ss69086718 May 17, 2007 (127)
12 ILLUMINA ss74863338 Dec 06, 2007 (129)
13 SI_EXO ss76890114 Dec 06, 2007 (129)
14 KRIBB_YJKIM ss80745056 Dec 15, 2007 (130)
15 BCMHGSC_JDW ss88301756 Mar 23, 2008 (129)
16 SHGC ss95216435 Feb 06, 2009 (130)
17 KRIBB_YJKIM ss102645205 Feb 06, 2009 (130)
18 BGI ss102899696 Dec 01, 2009 (131)
19 1000GENOMES ss109634293 Jan 24, 2009 (130)
20 1000GENOMES ss113609472 Jan 25, 2009 (130)
21 ILLUMINA-UK ss119257624 Feb 15, 2009 (130)
22 GMI ss155345362 Dec 01, 2009 (131)
23 ILLUMINA ss160474841 Dec 01, 2009 (131)
24 COMPLETE_GENOMICS ss170681972 Jul 04, 2010 (132)
25 ILLUMINA ss172978187 Jul 04, 2010 (132)
26 COMPLETE_GENOMICS ss174678632 Jul 04, 2010 (132)
27 BUSHMAN ss201828161 Jul 04, 2010 (132)
28 BCM-HGSC-SUB ss207346372 Jul 04, 2010 (132)
29 1000GENOMES ss224860360 Jul 14, 2010 (132)
30 1000GENOMES ss235274416 Jul 15, 2010 (132)
31 1000GENOMES ss241961704 Jul 15, 2010 (132)
32 BL ss254496880 May 09, 2011 (134)
33 GMI ss280714784 May 04, 2012 (137)
34 PJP ss290890263 May 09, 2011 (134)
35 ILLUMINA ss480337811 May 04, 2012 (137)
36 ILLUMINA ss480349394 May 04, 2012 (137)
37 ILLUMINA ss481114852 Sep 08, 2015 (146)
38 ILLUMINA ss484966522 May 04, 2012 (137)
39 ILLUMINA ss537006311 Sep 08, 2015 (146)
40 TISHKOFF ss562115108 Apr 25, 2013 (138)
41 SSMP ss657122840 Apr 25, 2013 (138)
42 ILLUMINA ss778845475 Sep 08, 2015 (146)
43 ILLUMINA ss782929574 Sep 08, 2015 (146)
44 ILLUMINA ss783892402 Sep 08, 2015 (146)
45 ILLUMINA ss832184928 Sep 08, 2015 (146)
46 ILLUMINA ss834306071 Sep 08, 2015 (146)
47 EVA-GONL ss987754064 Aug 21, 2014 (142)
48 JMKIDD_LAB ss1077180179 Aug 21, 2014 (142)
49 1000GENOMES ss1338437791 Aug 21, 2014 (142)
50 DDI ss1426397449 Apr 01, 2015 (144)
51 EVA_GENOME_DK ss1575269225 Apr 01, 2015 (144)
52 EVA_DECODE ss1597426940 Apr 01, 2015 (144)
53 EVA_UK10K_ALSPAC ss1625093712 Apr 01, 2015 (144)
54 EVA_UK10K_TWINSUK ss1668087745 Apr 01, 2015 (144)
55 EVA_MGP ss1711264000 Apr 01, 2015 (144)
56 EVA_SVP ss1713198903 Apr 01, 2015 (144)
57 ILLUMINA ss1751985426 Sep 08, 2015 (146)
58 HAMMER_LAB ss1806500675 Sep 08, 2015 (146)
59 WEILL_CORNELL_DGM ss1931122417 Feb 12, 2016 (147)
60 GENOMED ss1967189125 Jul 19, 2016 (147)
61 JJLAB ss2026288933 Sep 14, 2016 (149)
62 USC_VALOUEV ss2154564419 Dec 20, 2016 (150)
63 HUMAN_LONGEVITY ss2176764604 Dec 20, 2016 (150)
64 SYSTEMSBIOZJU ss2627613628 Nov 08, 2017 (151)
65 ILLUMINA ss2632742267 Nov 08, 2017 (151)
66 ILLUMINA ss2635017553 Nov 08, 2017 (151)
67 GRF ss2698815732 Nov 08, 2017 (151)
68 GNOMAD ss2891603029 Nov 08, 2017 (151)
69 SWEGEN ss3006889212 Nov 08, 2017 (151)
70 BIOINF_KMB_FNS_UNIBA ss3026934132 Nov 08, 2017 (151)
71 TOPMED ss3126309721 Nov 08, 2017 (151)
72 CSHL ss3349240398 Nov 08, 2017 (151)
73 ILLUMINA ss3626499380 Oct 12, 2018 (152)
74 ILLUMINA ss3630766073 Oct 12, 2018 (152)
75 ILLUMINA ss3632958414 Oct 12, 2018 (152)
76 ILLUMINA ss3633655994 Oct 12, 2018 (152)
77 ILLUMINA ss3634415178 Oct 12, 2018 (152)
78 ILLUMINA ss3635348301 Oct 12, 2018 (152)
79 ILLUMINA ss3636098983 Oct 12, 2018 (152)
80 ILLUMINA ss3637099004 Oct 12, 2018 (152)
81 ILLUMINA ss3637864245 Oct 12, 2018 (152)
82 ILLUMINA ss3640122519 Oct 12, 2018 (152)
83 ILLUMINA ss3642866498 Oct 12, 2018 (152)
84 OMUKHERJEE_ADBS ss3646412916 Oct 12, 2018 (152)
85 EGCUT_WGS ss3674298902 Jul 13, 2019 (153)
86 EVA_DECODE ss3690369175 Jul 13, 2019 (153)
87 ACPOP ss3737543669 Jul 13, 2019 (153)
88 ILLUMINA ss3744716151 Jul 13, 2019 (153)
89 EVA ss3748411718 Jul 13, 2019 (153)
90 ILLUMINA ss3772216534 Jul 13, 2019 (153)
91 PACBIO ss3786744090 Jul 13, 2019 (153)
92 PACBIO ss3791913861 Jul 13, 2019 (153)
93 PACBIO ss3796795969 Jul 13, 2019 (153)
94 KHV_HUMAN_GENOMES ss3813779171 Jul 13, 2019 (153)
95 EVA ss3832252676 Apr 26, 2020 (154)
96 EVA ss3839666989 Apr 26, 2020 (154)
97 EVA ss3845140409 Apr 26, 2020 (154)
98 SGDP_PRJ ss3874732850 Apr 26, 2020 (154)
99 KRGDB ss3922848586 Apr 26, 2020 (154)
100 KOGIC ss3968369929 Apr 26, 2020 (154)
101 1000Genomes NC_000010.10 - 89653686 Oct 12, 2018 (152)
102 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 89653686 Oct 12, 2018 (152)
103 Genetic variation in the Estonian population NC_000010.10 - 89653686 Oct 12, 2018 (152)
104 The Danish reference pan genome NC_000010.10 - 89653686 Apr 26, 2020 (154)
105 gnomAD - Genomes NC_000010.10 - 89653686 Jul 13, 2019 (153)
106 Genome of the Netherlands Release 5 NC_000010.10 - 89653686 Apr 26, 2020 (154)
107 HapMap NC_000010.11 - 87893929 Apr 26, 2020 (154)
108 KOREAN population from KRGDB NC_000010.10 - 89653686 Apr 26, 2020 (154)
109 Korean Genome Project NC_000010.11 - 87893929 Apr 26, 2020 (154)
110 Medical Genome Project healthy controls from Spanish population NC_000010.10 - 89653686 Apr 26, 2020 (154)
111 Northern Sweden NC_000010.10 - 89653686 Jul 13, 2019 (153)
112 Qatari NC_000010.10 - 89653686 Apr 26, 2020 (154)
113 SGDP_PRJ NC_000010.10 - 89653686 Apr 26, 2020 (154)
114 Siberian NC_000010.10 - 89653686 Apr 26, 2020 (154)
115 TopMed NC_000010.11 - 87893929 Oct 12, 2018 (152)
116 UK 10K study - Twins NC_000010.10 - 89653686 Oct 12, 2018 (152)
117 A Vietnamese Genetic Variation Database NC_000010.10 - 89653686 Jul 13, 2019 (153)
118 dbGaP Population Frequency Project NC_000010.11 - 87893929 Apr 26, 2020 (154)
119 ClinVar RCV000506596.2 Apr 26, 2020 (154)
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)
rs60869655 May 26, 2008 (130)
rs386548647 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
30025980, ss3922848586 NC_000010.10:89653685:A:C NC_000010.11:87893928:A:C
ss88301756, ss109634293, ss113609472, ss119257624, ss160474841, ss170681972, ss174678632, ss201828161, ss207346372, ss254496880, ss280714784, ss290890263, ss480337811, ss1597426940, ss1713198903, ss2635017553, ss3642866498 NC_000010.9:89643665:A:G NC_000010.11:87893928:A:G (self)
50862130, 28232709, 20037150, 2263849, 138957396, 12590062, 30025980, 379760, 10828534, 13164347, 26749830, 7080773, 28232709, 6269937, ss224860360, ss235274416, ss241961704, ss480349394, ss481114852, ss484966522, ss537006311, ss562115108, ss657122840, ss778845475, ss782929574, ss783892402, ss832184928, ss834306071, ss987754064, ss1077180179, ss1338437791, ss1426397449, ss1575269225, ss1625093712, ss1668087745, ss1711264000, ss1751985426, ss1806500675, ss1931122417, ss1967189125, ss2026288933, ss2154564419, ss2627613628, ss2632742267, ss2698815732, ss2891603029, ss3006889212, ss3349240398, ss3626499380, ss3630766073, ss3632958414, ss3633655994, ss3634415178, ss3635348301, ss3636098983, ss3637099004, ss3637864245, ss3640122519, ss3646412916, ss3674298902, ss3737543669, ss3744716151, ss3748411718, ss3772216534, ss3786744090, ss3791913861, ss3796795969, ss3832252676, ss3839666989, ss3874732850, ss3922848586 NC_000010.10:89653685:A:G NC_000010.11:87893928:A:G (self)
RCV000506596.2, 457822, 24747930, 48120379, 279848828, ss2176764604, ss3026934132, ss3126309721, ss3690369175, ss3813779171, ss3845140409, ss3968369929 NC_000010.11:87893928:A:G NC_000010.11:87893928:A:G (self)
ss12083906 NT_030059.10:8092233:A:G NC_000010.11:87893928:A:G (self)
ss16083263 NT_030059.11:8402201:A:G NC_000010.11:87893928:A:G (self)
ss76890114 NT_030059.12:8402201:A:G NC_000010.11:87893928:A:G (self)
ss2787378, ss3237058, ss3464781, ss23639050, ss38349717, ss38636209, ss48296530, ss65758116, ss69086718, ss74863338, ss80745056, ss95216435, ss102645205, ss102899696, ss155345362, ss172978187 NT_030059.13:40458149:A:G NC_000010.11:87893928:A:G (self)
30025980, ss3922848586 NC_000010.10:89653685:A:T NC_000010.11:87893928:A:T
Help

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

6 citations for rs1903858
PMID Title Author Year Journal
18805939 Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis. Tempfer CB et al. 2009 Human reproduction update
21633361 Germ-line sequence variants of PTEN do not have an important role in hereditary and non-hereditary prostate cancer susceptibility. Xie CC et al. 2011 Journal of human genetics
22562547 Genetic variation in genes involved in hormones, inflammation and energetic factors and breast cancer risk in an admixed population. Slattery ML et al. 2012 Carcinogenesis
24959314 Influence of CHIEF pathway genes on gene expression: a pathway approach to functionality. Slattery ML et al. 2014 International journal of molecular epidemiology and genetics
26082156 No association between polymorphisms in PTEN and primary ovarian insufficiency in a Han Chinese population. Zou W et al. 2015 Reproductive biology and endocrinology
27187382 Sirolimus and Everolimus Pathway: Reviewing Candidate Genes Influencing Their Intracellular Effects. Granata S et al. 2016 International journal of molecular sciences
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.post565+e32b82c