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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.

rs11979158

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr7:55091656 (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
A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.191515 (50692/264690, TOPMED)
G=0.156745 (28089/179202, ALFA)
G=0.199850 (27993/140070, GnomAD) (+ 17 more)
G=0.18947 (14907/78678, PAGE_STUDY)
G=0.00054 (9/16758, 8.3KJPN)
G=0.1516 (759/5008, 1000G)
G=0.1790 (802/4480, Estonian)
G=0.1956 (643/3288, PRJNA289433)
G=0.0003 (1/2922, KOREAN)
G=0.0993 (207/2084, HGDP_Stanford)
G=0.0016 (3/1832, Korea1K)
G=0.1707 (280/1640, HapMap)
G=0.187 (187/998, GoNL)
G=0.010 (8/792, PRJEB37584)
G=0.213 (128/600, NorthernSweden)
G=0.125 (27/216, Qatari)
A=0.500 (56/112, SGDP_PRJ)
G=0.500 (56/112, SGDP_PRJ)
G=0.07 (4/60, Ancient Sardinia)
A=0.42 (5/12, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
EGFR : Intron Variant
Publications
13 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 7 NC_000007.14:g.55091656A>G
GRCh38.p13 chr 7 NC_000007.14:g.55091656A>T
GRCh37.p13 chr 7 NC_000007.13:g.55159349A>G
GRCh37.p13 chr 7 NC_000007.13:g.55159349A>T
EGFR RefSeqGene (LRG_304) NG_007726.3:g.77625A>G
EGFR RefSeqGene (LRG_304) NG_007726.3:g.77625A>T
Gene: EGFR, epidermal growth factor receptor (plus strand)
Molecule type Change Amino acid[Codon] SO Term
EGFR transcript variant 5 NM_001346897.2:c.89-50630…

NM_001346897.2:c.89-50630A>G

N/A Intron Variant
EGFR transcript variant 6 NM_001346898.2:c.89-50630…

NM_001346898.2:c.89-50630A>G

N/A Intron Variant
EGFR transcript variant 7 NM_001346899.2:c.89-50630…

NM_001346899.2:c.89-50630A>G

N/A Intron Variant
EGFR transcript variant EGFRvIII NM_001346941.2:c.89-64174…

NM_001346941.2:c.89-64174A>G

N/A Intron Variant
EGFR transcript variant 1 NM_005228.5:c.89-50630A>G N/A Intron Variant
EGFR transcript variant 2 NM_201282.2:c.89-50630A>G N/A Intron Variant
EGFR transcript variant 3 NM_201283.2:c.89-50630A>G N/A Intron Variant
EGFR transcript variant 4 NM_201284.2:c.89-50630A>G N/A Intron Variant
EGFR transcript variant 8 NM_001346900.2:c. N/A Genic Upstream Transcript 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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 179202 A=0.843255 G=0.156745
European Sub 153978 A=0.839880 G=0.160120
African Sub 5120 A=0.7047 G=0.2953
African Others Sub 172 A=0.762 G=0.238
African American Sub 4948 A=0.7027 G=0.2973
Asian Sub 3254 A=0.9985 G=0.0015
East Asian Sub 2020 A=0.9985 G=0.0015
Other Asian Sub 1234 A=0.9984 G=0.0016
Latin American 1 Sub 260 A=0.804 G=0.196
Latin American 2 Sub 1254 A=0.8525 G=0.1475
South Asian Sub 4960 A=0.9159 G=0.0841
Other Sub 10376 A=0.87818 G=0.12182


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 A=0.808485 G=0.191515
gnomAD - Genomes Global Study-wide 140070 A=0.800150 G=0.199850
gnomAD - Genomes European Sub 75856 A=0.82264 G=0.17736
gnomAD - Genomes African Sub 41958 A=0.71748 G=0.28252
gnomAD - Genomes American Sub 13652 A=0.84574 G=0.15426
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.9281 G=0.0719
gnomAD - Genomes East Asian Sub 3134 A=0.9965 G=0.0035
gnomAD - Genomes Other Sub 2148 A=0.8468 G=0.1532
The PAGE Study Global Study-wide 78678 A=0.81053 G=0.18947
The PAGE Study AfricanAmerican Sub 32506 A=0.71661 G=0.28339
The PAGE Study Mexican Sub 10802 A=0.83559 G=0.16441
The PAGE Study Asian Sub 8316 A=0.9983 G=0.0017
The PAGE Study PuertoRican Sub 7918 A=0.8368 G=0.1632
The PAGE Study NativeHawaiian Sub 4532 A=0.9592 G=0.0408
The PAGE Study Cuban Sub 4230 A=0.8582 G=0.1418
The PAGE Study Dominican Sub 3826 A=0.7836 G=0.2164
The PAGE Study CentralAmerican Sub 2450 A=0.8253 G=0.1747
The PAGE Study SouthAmerican Sub 1982 A=0.8502 G=0.1498
The PAGE Study NativeAmerican Sub 1260 A=0.8222 G=0.1778
The PAGE Study SouthAsian Sub 856 A=0.940 G=0.060
8.3KJPN JAPANESE Study-wide 16758 A=0.99946 G=0.00054
1000Genomes Global Study-wide 5008 A=0.8484 G=0.1516
1000Genomes African Sub 1322 A=0.6755 G=0.3245
1000Genomes East Asian Sub 1008 A=0.9980 G=0.0020
1000Genomes Europe Sub 1006 A=0.8310 G=0.1690
1000Genomes South Asian Sub 978 A=0.951 G=0.049
1000Genomes American Sub 694 A=0.841 G=0.159
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.8210 G=0.1790
MxGDAR/Encodat-PGx Global Study-wide 3288 A=0.8044 G=0.1956
MxGDAR/Encodat-PGx MxGDAR Sub 3288 A=0.8044 G=0.1956
KOREAN population from KRGDB KOREAN Study-wide 2922 A=0.9997 G=0.0003
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.9007 G=0.0993
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.985 G=0.015
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.913 G=0.087
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.917 G=0.083
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.853 G=0.147
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.756 G=0.244
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.875 G=0.125
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.97 G=0.03
Korean Genome Project KOREAN Study-wide 1832 A=0.9984 G=0.0016
HapMap Global Study-wide 1640 A=0.8293 G=0.1707
HapMap African Sub 692 A=0.760 G=0.240
HapMap American Sub 600 A=0.843 G=0.157
HapMap Europe Sub 176 A=0.892 G=0.108
HapMap Asian Sub 172 A=0.994 G=0.006
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.813 G=0.187
CNV burdens in cranial meningiomas Global Study-wide 792 A=0.990 G=0.010
CNV burdens in cranial meningiomas CRM Sub 792 A=0.990 G=0.010
Northern Sweden ACPOP Study-wide 600 A=0.787 G=0.213
Qatari Global Study-wide 216 A=0.875 G=0.125
SGDP_PRJ Global Study-wide 112 A=0.500 G=0.500
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 60 A=0.93 G=0.07
Siberian Global Study-wide 12 A=0.42 G=0.58
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= G T
GRCh38.p13 chr 7 NC_000007.14:g.55091656= NC_000007.14:g.55091656A>G NC_000007.14:g.55091656A>T
GRCh37.p13 chr 7 NC_000007.13:g.55159349= NC_000007.13:g.55159349A>G NC_000007.13:g.55159349A>T
EGFR RefSeqGene (LRG_304) NG_007726.3:g.77625= NG_007726.3:g.77625A>G NG_007726.3:g.77625A>T
EGFR transcript variant 5 NM_001346897.2:c.89-50630= NM_001346897.2:c.89-50630A>G NM_001346897.2:c.89-50630A>T
EGFR transcript variant 6 NM_001346898.2:c.89-50630= NM_001346898.2:c.89-50630A>G NM_001346898.2:c.89-50630A>T
EGFR transcript variant 7 NM_001346899.2:c.89-50630= NM_001346899.2:c.89-50630A>G NM_001346899.2:c.89-50630A>T
EGFR transcript variant EGFRvIII NM_001346941.2:c.89-64174= NM_001346941.2:c.89-64174A>G NM_001346941.2:c.89-64174A>T
EGFR transcript variant 1 NM_005228.3:c.89-50630= NM_005228.3:c.89-50630A>G NM_005228.3:c.89-50630A>T
EGFR transcript variant 1 NM_005228.5:c.89-50630= NM_005228.5:c.89-50630A>G NM_005228.5:c.89-50630A>T
EGFR transcript variant 2 NM_201282.1:c.89-50630= NM_201282.1:c.89-50630A>G NM_201282.1:c.89-50630A>T
EGFR transcript variant 2 NM_201282.2:c.89-50630= NM_201282.2:c.89-50630A>G NM_201282.2:c.89-50630A>T
EGFR transcript variant 3 NM_201283.1:c.89-50630= NM_201283.1:c.89-50630A>G NM_201283.1:c.89-50630A>T
EGFR transcript variant 3 NM_201283.2:c.89-50630= NM_201283.2:c.89-50630A>G NM_201283.2:c.89-50630A>T
EGFR transcript variant 4 NM_201284.1:c.89-50630= NM_201284.1:c.89-50630A>G NM_201284.1:c.89-50630A>T
EGFR transcript variant 4 NM_201284.2:c.89-50630= NM_201284.2:c.89-50630A>G NM_201284.2:c.89-50630A>T
EGFR transcript variant X1 XM_005271746.1:c.89-50630= XM_005271746.1:c.89-50630A>G XM_005271746.1:c.89-50630A>T
EGFR transcript variant X3 XM_005271748.1:c.89-50630= XM_005271748.1:c.89-50630A>G XM_005271748.1:c.89-50630A>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#.

99 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss17939014 Feb 28, 2004 (120)
2 PERLEGEN ss23459800 Sep 20, 2004 (123)
3 ABI ss43071055 Mar 13, 2006 (126)
4 ILLUMINA ss66766483 Dec 01, 2006 (127)
5 ILLUMINA ss66972628 Dec 01, 2006 (127)
6 ILLUMINA ss67142599 Dec 01, 2006 (127)
7 ILLUMINA ss70403166 May 17, 2007 (127)
8 ILLUMINA ss70550760 May 24, 2008 (130)
9 ILLUMINA ss71086217 May 17, 2007 (127)
10 ILLUMINA ss75759602 Dec 07, 2007 (129)
11 HGSV ss78554624 Dec 07, 2007 (129)
12 HGSV ss84290046 Dec 14, 2007 (130)
13 KRIBB_YJKIM ss85168139 Dec 14, 2007 (130)
14 1000GENOMES ss112043235 Jan 25, 2009 (130)
15 ILLUMINA-UK ss116097378 Feb 14, 2009 (130)
16 ILLUMINA ss121525808 Dec 01, 2009 (131)
17 ILLUMINA ss153105855 Dec 01, 2009 (131)
18 ILLUMINA ss159198551 Dec 01, 2009 (131)
19 COMPLETE_GENOMICS ss166623867 Jul 04, 2010 (132)
20 ILLUMINA ss170014837 Jul 04, 2010 (132)
21 ILLUMINA ss171765744 Jul 04, 2010 (132)
22 BUSHMAN ss203359919 Jul 04, 2010 (132)
23 1000GENOMES ss223092262 Jul 14, 2010 (132)
24 1000GENOMES ss233988493 Jul 15, 2010 (132)
25 BL ss254295056 May 09, 2011 (134)
26 PJP ss293873577 May 09, 2011 (134)
27 EXOME_CHIP ss491399630 May 04, 2012 (137)
28 ILLUMINA ss536743117 Sep 08, 2015 (146)
29 TISHKOFF ss560020147 Apr 25, 2013 (138)
30 SSMP ss654383566 Apr 25, 2013 (138)
31 ILLUMINA ss780681271 Aug 21, 2014 (142)
32 ILLUMINA ss783354575 Aug 21, 2014 (142)
33 ILLUMINA ss825372474 Jul 19, 2016 (147)
34 ILLUMINA ss832711011 Aug 21, 2014 (142)
35 ILLUMINA ss833301700 Aug 21, 2014 (142)
36 EVA-GONL ss984302462 Aug 21, 2014 (142)
37 JMKIDD_LAB ss1074630379 Aug 21, 2014 (142)
38 1000GENOMES ss1325215080 Aug 21, 2014 (142)
39 EVA_DECODE ss1593883041 Apr 01, 2015 (144)
40 EVA_UK10K_ALSPAC ss1618260915 Apr 01, 2015 (144)
41 EVA_UK10K_ALSPAC ss1618260916 Apr 01, 2015 (144)
42 EVA_UK10K_TWINSUK ss1661254948 Apr 01, 2015 (144)
43 EVA_UK10K_TWINSUK ss1661254949 Apr 01, 2015 (144)
44 EVA_SVP ss1712957550 Apr 01, 2015 (144)
45 ILLUMINA ss1752690669 Sep 08, 2015 (146)
46 HAMMER_LAB ss1805014762 Sep 08, 2015 (146)
47 ILLUMINA ss1917817408 Feb 12, 2016 (147)
48 WEILL_CORNELL_DGM ss1927545985 Feb 12, 2016 (147)
49 ILLUMINA ss1946209668 Feb 12, 2016 (147)
50 ILLUMINA ss1959014384 Feb 12, 2016 (147)
51 GENOMED ss1970708905 Jul 19, 2016 (147)
52 JJLAB ss2024459797 Sep 14, 2016 (149)
53 USC_VALOUEV ss2152655626 Dec 20, 2016 (150)
54 HUMAN_LONGEVITY ss2294211732 Dec 20, 2016 (150)
55 TOPMED ss2463232250 Dec 20, 2016 (150)
56 ILLUMINA ss2634609754 Nov 08, 2017 (151)
57 ILLUMINA ss2711111344 Nov 08, 2017 (151)
58 GNOMAD ss2853370211 Nov 08, 2017 (151)
59 AFFY ss2985407762 Nov 08, 2017 (151)
60 AFFY ss2986038955 Nov 08, 2017 (151)
61 SWEGEN ss3001151870 Nov 08, 2017 (151)
62 ILLUMINA ss3022737533 Nov 08, 2017 (151)
63 BIOINF_KMB_FNS_UNIBA ss3026026240 Nov 08, 2017 (151)
64 CSHL ss3347597344 Nov 08, 2017 (151)
65 TOPMED ss3530754051 Nov 08, 2017 (151)
66 ILLUMINA ss3625929037 Oct 12, 2018 (152)
67 ILLUMINA ss3629823179 Oct 12, 2018 (152)
68 ILLUMINA ss3629823180 Oct 12, 2018 (152)
69 ILLUMINA ss3635122775 Oct 12, 2018 (152)
70 ILLUMINA ss3638699194 Oct 12, 2018 (152)
71 ILLUMINA ss3639352396 Oct 12, 2018 (152)
72 ILLUMINA ss3639704241 Oct 12, 2018 (152)
73 ILLUMINA ss3640830068 Oct 12, 2018 (152)
74 ILLUMINA ss3643634769 Oct 12, 2018 (152)
75 ILLUMINA ss3644942790 Oct 12, 2018 (152)
76 ILLUMINA ss3653270081 Oct 12, 2018 (152)
77 ILLUMINA ss3654168625 Oct 12, 2018 (152)
78 EGCUT_WGS ss3669077512 Jul 13, 2019 (153)
79 EVA_DECODE ss3719736771 Jul 13, 2019 (153)
80 ILLUMINA ss3726446774 Jul 13, 2019 (153)
81 ACPOP ss3734653038 Jul 13, 2019 (153)
82 ILLUMINA ss3744568280 Jul 13, 2019 (153)
83 ILLUMINA ss3745422821 Jul 13, 2019 (153)
84 EVA ss3766592869 Jul 13, 2019 (153)
85 PAGE_CC ss3771372214 Jul 13, 2019 (153)
86 ILLUMINA ss3772915748 Jul 13, 2019 (153)
87 KHV_HUMAN_GENOMES ss3809752649 Jul 13, 2019 (153)
88 EVA ss3830585527 Apr 26, 2020 (154)
89 HGDP ss3847878014 Apr 26, 2020 (154)
90 SGDP_PRJ ss3867316601 Apr 26, 2020 (154)
91 KRGDB ss3914395153 Apr 26, 2020 (154)
92 KOGIC ss3961506427 Apr 26, 2020 (154)
93 EVA ss3984448728 Apr 26, 2021 (155)
94 EVA ss3984588784 Apr 26, 2021 (155)
95 EVA ss3985298555 Apr 26, 2021 (155)
96 EVA ss4017337717 Apr 26, 2021 (155)
97 TOPMED ss4746699641 Apr 26, 2021 (155)
98 TOMMO_GENOMICS ss5183237875 Apr 26, 2021 (155)
99 EVA ss5237421723 Apr 26, 2021 (155)
100 1000Genomes NC_000007.13 - 55159349 Oct 12, 2018 (152)
101 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 20742259 (NC_000007.13:55159348:A:A 3204/3854, NC_000007.13:55159348:A:G 650/3854)
Row 20742260 (NC_000007.13:55159348:A:A 3853/3854, NC_000007.13:55159348:A:T 1/3854)

- Oct 12, 2018 (152)
102 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 20742259 (NC_000007.13:55159348:A:A 3204/3854, NC_000007.13:55159348:A:G 650/3854)
Row 20742260 (NC_000007.13:55159348:A:A 3853/3854, NC_000007.13:55159348:A:T 1/3854)

- Oct 12, 2018 (152)
103 Genetic variation in the Estonian population NC_000007.13 - 55159349 Oct 12, 2018 (152)
104 gnomAD - Genomes NC_000007.14 - 55091656 Apr 26, 2021 (155)
105 Genome of the Netherlands Release 5 NC_000007.13 - 55159349 Apr 26, 2020 (154)
106 HGDP-CEPH-db Supplement 1 NC_000007.12 - 55126843 Apr 26, 2020 (154)
107 HapMap NC_000007.14 - 55091656 Apr 26, 2020 (154)
108 KOREAN population from KRGDB NC_000007.13 - 55159349 Apr 26, 2020 (154)
109 Korean Genome Project NC_000007.14 - 55091656 Apr 26, 2020 (154)
110 Northern Sweden NC_000007.13 - 55159349 Jul 13, 2019 (153)
111 The PAGE Study NC_000007.14 - 55091656 Jul 13, 2019 (153)
112 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000007.13 - 55159349 Apr 26, 2021 (155)
113 CNV burdens in cranial meningiomas NC_000007.13 - 55159349 Apr 26, 2021 (155)
114 MxGDAR/Encodat-PGx NC_000007.13 - 55159349 Apr 26, 2021 (155)
115 Qatari NC_000007.13 - 55159349 Apr 26, 2020 (154)
116 SGDP_PRJ NC_000007.13 - 55159349 Apr 26, 2020 (154)
117 Siberian NC_000007.13 - 55159349 Apr 26, 2020 (154)
118 8.3KJPN NC_000007.13 - 55159349 Apr 26, 2021 (155)
119 TopMed NC_000007.14 - 55091656 Apr 26, 2021 (155)
120 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 20742259 (NC_000007.13:55159348:A:A 3007/3708, NC_000007.13:55159348:A:G 701/3708)
Row 20742260 (NC_000007.13:55159348:A:A 3708/3708, NC_000007.13:55159348:A:T 0/3708)

- Oct 12, 2018 (152)
121 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 20742259 (NC_000007.13:55159348:A:A 3007/3708, NC_000007.13:55159348:A:G 701/3708)
Row 20742260 (NC_000007.13:55159348:A:A 3708/3708, NC_000007.13:55159348:A:T 0/3708)

- Oct 12, 2018 (152)
122 ALFA NC_000007.14 - 55091656 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)
rs57799551 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78554624, ss84290046, ss3639352396, ss3639704241 NC_000007.11:54933557:A:G NC_000007.14:55091655:A:G (self)
555906, ss112043235, ss116097378, ss166623867, ss203359919, ss254295056, ss293873577, ss825372474, ss1593883041, ss1712957550, ss3643634769, ss3847878014 NC_000007.12:55126842:A:G NC_000007.14:55091655:A:G (self)
37187489, 14815760, 9252246, 21572547, 7937903, 524482, 138206, 1729, 9587915, 19333581, 5171980, 41207182, ss223092262, ss233988493, ss491399630, ss536743117, ss560020147, ss654383566, ss780681271, ss783354575, ss832711011, ss833301700, ss984302462, ss1074630379, ss1325215080, ss1618260915, ss1661254948, ss1752690669, ss1805014762, ss1917817408, ss1927545985, ss1946209668, ss1959014384, ss1970708905, ss2024459797, ss2152655626, ss2463232250, ss2634609754, ss2711111344, ss2853370211, ss2985407762, ss2986038955, ss3001151870, ss3022737533, ss3347597344, ss3625929037, ss3629823179, ss3629823180, ss3635122775, ss3638699194, ss3640830068, ss3644942790, ss3653270081, ss3654168625, ss3669077512, ss3734653038, ss3744568280, ss3745422821, ss3766592869, ss3772915748, ss3830585527, ss3867316601, ss3914395153, ss3984448728, ss3984588784, ss3985298555, ss4017337717, ss5183237875, ss5237421723 NC_000007.13:55159348:A:G NC_000007.14:55091655:A:G (self)
262065852, 3406946, 17884428, 593683, 365397679, 584077200, 8962159038, ss2294211732, ss3026026240, ss3530754051, ss3719736771, ss3726446774, ss3771372214, ss3809752649, ss3961506427, ss4746699641 NC_000007.14:55091655:A:G NC_000007.14:55091655:A:G (self)
ss17939014 NT_033968.5:4748717:A:G NC_000007.14:55091655:A:G (self)
ss23459800, ss43071055, ss66766483, ss66972628, ss67142599, ss70403166, ss70550760, ss71086217, ss75759602, ss85168139, ss121525808, ss153105855, ss159198551, ss170014837, ss171765744 NT_033968.6:4748717:A:G NC_000007.14:55091655:A:G (self)
ss1618260916, ss1661254949 NC_000007.13:55159348:A:T NC_000007.14:55091655:A:T (self)
Help

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

13 citations for rs11979158
PMID Title Author Year Journal
20668009 Inherited variation in immune genes and pathways and glioblastoma risk. Schwartzbaum JA et al. 2010 Carcinogenesis
21531791 Chromosome 7p11.2 (EGFR) variation influences glioma risk. Sanson M et al. 2011 Human molecular genetics
21825990 Genetic causes of glioma: new leads in the labyrinth. Melin B et al. 2011 Current opinion in oncology
22037877 Genome-wide high-density SNP linkage search for glioma susceptibility loci: results from the Gliogene Consortium. Shete S et al. 2011 Cancer research
23161787 Association between glioma susceptibility loci and tumour pathology defines specific molecular etiologies. Di Stefano AL et al. 2013 Neuro-oncology
23236348 EGFR gene variants are associated with specific somatic aberrations in glioma. Wibom C et al. 2012 PloS one
26243184 An Updated and Comprehensive Meta-Analysis of Association Between Seven Hot Loci Polymorphisms from Eight GWAS and Glioma Risk. Wu Q et al. 2016 Molecular neurobiology
26839018 Genetic risk variants in the CDKN2A/B, RTEL1 and EGFR genes are associated with somatic biomarkers in glioma. Ghasimi S et al. 2016 Journal of neuro-oncology
26906551 Pre-diagnostic serum levels of EGFR and ErbB2 and genetic glioma risk variants: a nested case-control study. Späth F et al. 2016 Tumour biology
27780202 Relation between Established Glioma Risk Variants and DNA Methylation in the Tumor. Dahlin AM et al. 2016 PloS one
29156842 Associations between EGFR gene polymorphisms and susceptibility to glioma: a systematic review and meta-analysis from GWAS and case-control studies. Yu X et al. 2017 Oncotarget
29743610 Sex-specific glioma genome-wide association study identifies new risk locus at 3p21.31 in females, and finds sex-differences in risk at 8q24.21. Ostrom QT et al. 2018 Scientific reports
30152087 Age-specific genome-wide association study in glioblastoma identifies increased proportion of 'lower grade glioma'-like features associated with younger age. Ostrom QT et al. 2018 International journal of cancer
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.post596+ae089ad