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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.

rs2279115

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr18:63319604 (GRCh38.p14) 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
G>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.440421 (116575/264690, TOPMED)
T=0.46808 (13023/27822, ALFA)
T=0.36533 (6123/16760, 8.3KJPN) (+ 15 more)
T=0.3805 (2437/6404, 1000G_30x)
T=0.3854 (1930/5008, 1000G)
G=0.4071 (1824/4480, Estonian)
G=0.4582 (1766/3854, ALSPAC)
G=0.4563 (1692/3708, TWINSUK)
T=0.4010 (1175/2930, KOREAN)
T=0.3739 (685/1832, Korea1K)
G=0.447 (446/998, GoNL)
T=0.458 (275/600, NorthernSweden)
G=0.317 (116/366, SGDP_PRJ)
T=0.431 (93/216, Qatari)
T=0.240 (50/208, HapMap)
T=0.413 (86/208, Vietnamese)
G=0.26 (11/42, Siberian)
G=0.40 (16/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
BCL2 : 5 Prime UTR Variant
Publications
40 citations
Genomic View
See rs on genome

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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 27822 G=0.53192 A=0.00000, T=0.46808
European Sub 24856 G=0.49014 A=0.00000, T=0.50986
African Sub 2122 G=0.9406 A=0.0000, T=0.0594
African Others Sub 94 G=0.91 A=0.00, T=0.09
African American Sub 2028 G=0.9418 A=0.0000, T=0.0582
Asian Sub 90 G=0.80 A=0.00, T=0.20
East Asian Sub 80 G=0.78 A=0.00, T=0.23
Other Asian Sub 10 G=1.0 A=0.0, T=0.0
Latin American 1 Sub 42 G=1.00 A=0.00, T=0.00
Latin American 2 Sub 74 G=1.00 A=0.00, T=0.00
South Asian Sub 42 G=1.00 A=0.00, T=0.00
Other Sub 596 G=0.654 A=0.000, T=0.346


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 G=0.559579 T=0.440421
Allele Frequency Aggregator Total Global 27822 G=0.53192 A=0.00000, T=0.46808
Allele Frequency Aggregator European Sub 24856 G=0.49014 A=0.00000, T=0.50986
Allele Frequency Aggregator African Sub 2122 G=0.9406 A=0.0000, T=0.0594
Allele Frequency Aggregator Other Sub 596 G=0.654 A=0.000, T=0.346
Allele Frequency Aggregator Asian Sub 90 G=0.80 A=0.00, T=0.20
Allele Frequency Aggregator Latin American 2 Sub 74 G=1.00 A=0.00, T=0.00
Allele Frequency Aggregator Latin American 1 Sub 42 G=1.00 A=0.00, T=0.00
Allele Frequency Aggregator South Asian Sub 42 G=1.00 A=0.00, T=0.00
8.3KJPN JAPANESE Study-wide 16760 G=0.63467 T=0.36533
1000Genomes_30x Global Study-wide 6404 G=0.6195 T=0.3805
1000Genomes_30x African Sub 1786 G=0.8309 T=0.1691
1000Genomes_30x Europe Sub 1266 G=0.4463 T=0.5537
1000Genomes_30x South Asian Sub 1202 G=0.6880 T=0.3120
1000Genomes_30x East Asian Sub 1170 G=0.5872 T=0.4128
1000Genomes_30x American Sub 980 G=0.412 T=0.588
1000Genomes Global Study-wide 5008 G=0.6146 T=0.3854
1000Genomes African Sub 1322 G=0.8298 T=0.1702
1000Genomes East Asian Sub 1008 G=0.5823 T=0.4177
1000Genomes Europe Sub 1006 G=0.4334 T=0.5666
1000Genomes South Asian Sub 978 G=0.688 T=0.312
1000Genomes American Sub 694 G=0.411 T=0.589
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.4071 T=0.5929
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.4582 T=0.5418
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.4563 T=0.5437
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.5990 T=0.4010
Korean Genome Project KOREAN Study-wide 1832 G=0.6261 T=0.3739
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.447 T=0.553
Northern Sweden ACPOP Study-wide 600 G=0.542 T=0.458
SGDP_PRJ Global Study-wide 366 G=0.317 T=0.683
Qatari Global Study-wide 216 G=0.569 T=0.431
HapMap Global Study-wide 208 G=0.760 T=0.240
HapMap African Sub 120 G=0.900 T=0.100
HapMap Asian Sub 88 G=0.57 T=0.43
A Vietnamese Genetic Variation Database Global Study-wide 208 G=0.587 T=0.413
Siberian Global Study-wide 42 G=0.26 T=0.74
The Danish reference pan genome Danish Study-wide 40 G=0.40 T=0.60
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.p14 chr 18 NC_000018.10:g.63319604G>A
GRCh38.p14 chr 18 NC_000018.10:g.63319604G>C
GRCh38.p14 chr 18 NC_000018.10:g.63319604G>T
GRCh37.p13 chr 18 NC_000018.9:g.60986837G>A
GRCh37.p13 chr 18 NC_000018.9:g.60986837G>C
GRCh37.p13 chr 18 NC_000018.9:g.60986837G>T
BCL2 RefSeqGene (LRG_1113) NG_009361.1:g.4777C>T
BCL2 RefSeqGene (LRG_1113) NG_009361.1:g.4777C>G
BCL2 RefSeqGene (LRG_1113) NG_009361.1:g.4777C>A
Gene: BCL2, BCL2 apoptosis regulator (minus strand)
Molecule type Change Amino acid[Codon] SO Term
BCL2 transcript variant alpha NM_000633.3:c.-717= N/A 5 Prime UTR Variant
BCL2 transcript variant beta NM_000657.3:c.-717= N/A 5 Prime UTR Variant
BCL2 transcript variant X1 XM_047437733.1:c.-938= N/A 5 Prime UTR Variant
BCL2 transcript variant X2 XM_011526135.4:c.-938= N/A 5 Prime UTR Variant
BCL2 transcript variant X3 XM_017025917.3:c.-717= N/A 5 Prime UTR Variant
BCL2 transcript variant X4 XM_047437734.1:c.-938= N/A 5 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.

Not Reported in ClinVar
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 G= A C T
GRCh38.p14 chr 18 NC_000018.10:g.63319604= NC_000018.10:g.63319604G>A NC_000018.10:g.63319604G>C NC_000018.10:g.63319604G>T
GRCh37.p13 chr 18 NC_000018.9:g.60986837= NC_000018.9:g.60986837G>A NC_000018.9:g.60986837G>C NC_000018.9:g.60986837G>T
BCL2 RefSeqGene (LRG_1113) NG_009361.1:g.4777= NG_009361.1:g.4777C>T NG_009361.1:g.4777C>G NG_009361.1:g.4777C>A
BCL2 transcript variant alpha NM_000633.3:c.-717= NM_000633.3:c.-717C>T NM_000633.3:c.-717C>G NM_000633.3:c.-717C>A
BCL2 transcript variant beta NM_000657.3:c.-717= NM_000657.3:c.-717C>T NM_000657.3:c.-717C>G NM_000657.3:c.-717C>A
BCL2 transcript variant X2 XM_011526135.4:c.-938= XM_011526135.4:c.-938C>T XM_011526135.4:c.-938C>G XM_011526135.4:c.-938C>A
BCL2 transcript variant X2 XM_011526135.3:c.-938= XM_011526135.3:c.-938C>T XM_011526135.3:c.-938C>G XM_011526135.3:c.-938C>A
BCL2 transcript variant X2 XM_011526135.2:c.-938= XM_011526135.2:c.-938C>T XM_011526135.2:c.-938C>G XM_011526135.2:c.-938C>A
BCL2 transcript variant X4 XM_011526135.1:c.-938= XM_011526135.1:c.-938C>T XM_011526135.1:c.-938C>G XM_011526135.1:c.-938C>A
BCL2 transcript variant X3 XM_017025917.3:c.-717= XM_017025917.3:c.-717C>T XM_017025917.3:c.-717C>G XM_017025917.3:c.-717C>A
BCL2 transcript variant X3 XM_017025917.2:c.-717= XM_017025917.2:c.-717C>T XM_017025917.2:c.-717C>G XM_017025917.2:c.-717C>A
BCL2 transcript variant X3 XM_017025917.1:c.-717= XM_017025917.1:c.-717C>T XM_017025917.1:c.-717C>G XM_017025917.1:c.-717C>A
BCL2 transcript variant X1 XM_047437733.1:c.-938= XM_047437733.1:c.-938C>T XM_047437733.1:c.-938C>G XM_047437733.1:c.-938C>A
BCL2 transcript variant X4 XM_047437734.1:c.-938= XM_047437734.1:c.-938C>T XM_047437734.1:c.-938C>G XM_047437734.1:c.-938C>A
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#.

73 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3216615 Sep 28, 2001 (100)
2 EGP_SNPS ss6904557 Mar 31, 2003 (113)
3 SSAHASNP ss21471367 Apr 05, 2004 (121)
4 ABI ss44142015 Mar 14, 2006 (126)
5 CGM_KYOTO ss76869508 Dec 06, 2007 (129)
6 SI_EXO ss76894403 Dec 06, 2007 (129)
7 BCMHGSC_JDW ss90823644 Mar 24, 2008 (129)
8 BGI ss103403672 Dec 01, 2009 (131)
9 1000GENOMES ss110694981 Jan 25, 2009 (130)
10 ENSEMBL ss137429571 Dec 01, 2009 (131)
11 COMPLETE_GENOMICS ss168385600 Jul 04, 2010 (132)
12 BUSHMAN ss203388312 Jul 04, 2010 (132)
13 1000GENOMES ss227920630 Jul 14, 2010 (132)
14 1000GENOMES ss237511604 Jul 15, 2010 (132)
15 1000GENOMES ss243751036 Jul 15, 2010 (132)
16 ILLUMINA ss244289123 Jul 04, 2010 (132)
17 BL ss255731668 May 09, 2011 (134)
18 GMI ss283032340 May 04, 2012 (137)
19 GMI ss287302440 Apr 25, 2013 (138)
20 PJP ss292090070 May 09, 2011 (134)
21 TISHKOFF ss565712092 Apr 25, 2013 (138)
22 SSMP ss661549259 Apr 25, 2013 (138)
23 EVA-GONL ss993848089 Aug 21, 2014 (142)
24 JMKIDD_LAB ss1081589387 Aug 21, 2014 (142)
25 1000GENOMES ss1361473805 Aug 21, 2014 (142)
26 DDI ss1428255182 Apr 01, 2015 (144)
27 EVA_GENOME_DK ss1578452678 Apr 01, 2015 (144)
28 EVA_UK10K_ALSPAC ss1637121641 Apr 01, 2015 (144)
29 EVA_UK10K_TWINSUK ss1680115674 Apr 01, 2015 (144)
30 EVA_DECODE ss1697910591 Apr 01, 2015 (144)
31 HAMMER_LAB ss1809101084 Sep 08, 2015 (146)
32 WEILL_CORNELL_DGM ss1937315180 Feb 12, 2016 (147)
33 GENOMED ss1968551094 Jul 19, 2016 (147)
34 JJLAB ss2029428976 Sep 14, 2016 (149)
35 USC_VALOUEV ss2157936915 Dec 20, 2016 (150)
36 HUMAN_LONGEVITY ss2222502598 Dec 20, 2016 (150)
37 SYSTEMSBIOZJU ss2629212625 Nov 08, 2017 (151)
38 GRF ss2702530170 Nov 08, 2017 (151)
39 ILLUMINA ss2710871057 Nov 08, 2017 (151)
40 GNOMAD ss2957947549 Nov 08, 2017 (151)
41 SWEGEN ss3016709265 Nov 08, 2017 (151)
42 BIOINF_KMB_FNS_UNIBA ss3028544212 Nov 08, 2017 (151)
43 CSHL ss3352076537 Nov 08, 2017 (151)
44 URBANLAB ss3650813908 Oct 12, 2018 (152)
45 EGCUT_WGS ss3683559563 Jul 13, 2019 (153)
46 EVA_DECODE ss3701882472 Jul 13, 2019 (153)
47 ACPOP ss3742643975 Jul 13, 2019 (153)
48 EVA ss3755531989 Jul 13, 2019 (153)
49 PACBIO ss3788402672 Jul 13, 2019 (153)
50 PACBIO ss3793329481 Jul 13, 2019 (153)
51 PACBIO ss3798215921 Jul 13, 2019 (153)
52 KHV_HUMAN_GENOMES ss3820785698 Jul 13, 2019 (153)
53 EVA ss3825917262 Apr 27, 2020 (154)
54 EVA ss3835227532 Apr 27, 2020 (154)
55 EVA ss3841232415 Apr 27, 2020 (154)
56 EVA ss3846735169 Apr 27, 2020 (154)
57 SGDP_PRJ ss3887251690 Apr 27, 2020 (154)
58 KRGDB ss3937148955 Apr 27, 2020 (154)
59 KOGIC ss3980364590 Apr 27, 2020 (154)
60 TOPMED ss5060647502 Apr 26, 2021 (155)
61 TOMMO_GENOMICS ss5225674160 Apr 26, 2021 (155)
62 1000G_HIGH_COVERAGE ss5305682701 Oct 16, 2022 (156)
63 EVA ss5432139204 Oct 16, 2022 (156)
64 HUGCELL_USP ss5498414556 Oct 16, 2022 (156)
65 1000G_HIGH_COVERAGE ss5610723553 Oct 16, 2022 (156)
66 SANFORD_IMAGENETICS ss5661517183 Oct 16, 2022 (156)
67 TOMMO_GENOMICS ss5783610439 Oct 16, 2022 (156)
68 TOMMO_GENOMICS ss5783610440 Oct 16, 2022 (156)
69 YY_MCH ss5817197271 Oct 16, 2022 (156)
70 EVA ss5827700828 Oct 16, 2022 (156)
71 EVA ss5852102467 Oct 16, 2022 (156)
72 EVA ss5874539100 Oct 16, 2022 (156)
73 EVA ss5952947178 Oct 16, 2022 (156)
74 1000Genomes NC_000018.9 - 60986837 Oct 12, 2018 (152)
75 1000Genomes_30x NC_000018.10 - 63319604 Oct 16, 2022 (156)
76 The Avon Longitudinal Study of Parents and Children NC_000018.9 - 60986837 Oct 12, 2018 (152)
77 Genetic variation in the Estonian population NC_000018.9 - 60986837 Oct 12, 2018 (152)
78 The Danish reference pan genome NC_000018.9 - 60986837 Apr 27, 2020 (154)
79 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 527765787 (NC_000018.10:63319603:G:A 1/140012)
Row 527765788 (NC_000018.10:63319603:G:T 62102/139978)

- Apr 26, 2021 (155)
80 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 527765787 (NC_000018.10:63319603:G:A 1/140012)
Row 527765788 (NC_000018.10:63319603:G:T 62102/139978)

- Apr 26, 2021 (155)
81 Genome of the Netherlands Release 5 NC_000018.9 - 60986837 Apr 27, 2020 (154)
82 HapMap NC_000018.10 - 63319604 Apr 27, 2020 (154)
83 KOREAN population from KRGDB NC_000018.9 - 60986837 Apr 27, 2020 (154)
84 Korean Genome Project NC_000018.10 - 63319604 Apr 27, 2020 (154)
85 Northern Sweden NC_000018.9 - 60986837 Jul 13, 2019 (153)
86 Qatari NC_000018.9 - 60986837 Apr 27, 2020 (154)
87 SGDP_PRJ NC_000018.9 - 60986837 Apr 27, 2020 (154)
88 Siberian NC_000018.9 - 60986837 Apr 27, 2020 (154)
89 8.3KJPN NC_000018.9 - 60986837 Apr 26, 2021 (155)
90 14KJPN

Submission ignored due to conflicting rows:
Row 117447543 (NC_000018.10:63319603:G:T 10311/28258)
Row 117447544 (NC_000018.10:63319603:G:C 1/28258)

- Oct 16, 2022 (156)
91 14KJPN

Submission ignored due to conflicting rows:
Row 117447543 (NC_000018.10:63319603:G:T 10311/28258)
Row 117447544 (NC_000018.10:63319603:G:C 1/28258)

- Oct 16, 2022 (156)
92 TopMed NC_000018.10 - 63319604 Apr 26, 2021 (155)
93 UK 10K study - Twins NC_000018.9 - 60986837 Oct 12, 2018 (152)
94 A Vietnamese Genetic Variation Database NC_000018.9 - 60986837 Jul 13, 2019 (153)
95 ALFA NC_000018.10 - 63319604 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2957947549 NC_000018.9:60986836:G:A NC_000018.10:63319603:G:A (self)
14007540420 NC_000018.10:63319603:G:A NC_000018.10:63319603:G:A (self)
ss5783610440 NC_000018.10:63319603:G:C NC_000018.10:63319603:G:C
ss90823644, ss110694981, ss168385600, ss203388312, ss255731668, ss283032340, ss287302440, ss292090070, ss1697910591 NC_000018.8:59137816:G:T NC_000018.10:63319603:G:T (self)
74818885, 41469290, 29297811, 4642693, 18473223, 44326349, 15928840, 19357102, 39268670, 10453269, 83643467, 41469290, 9162560, ss227920630, ss237511604, ss243751036, ss565712092, ss661549259, ss993848089, ss1081589387, ss1361473805, ss1428255182, ss1578452678, ss1637121641, ss1680115674, ss1809101084, ss1937315180, ss1968551094, ss2029428976, ss2157936915, ss2629212625, ss2702530170, ss2710871057, ss2957947549, ss3016709265, ss3352076537, ss3683559563, ss3742643975, ss3755531989, ss3788402672, ss3793329481, ss3798215921, ss3825917262, ss3835227532, ss3841232415, ss3887251690, ss3937148955, ss5225674160, ss5432139204, ss5661517183, ss5827700828, ss5952947178 NC_000018.9:60986836:G:T NC_000018.10:63319603:G:T (self)
98249488, 1626115, 36742591, 276193165, 14007540420, ss2222502598, ss3028544212, ss3650813908, ss3701882472, ss3820785698, ss3846735169, ss3980364590, ss5060647502, ss5305682701, ss5498414556, ss5610723553, ss5783610439, ss5817197271, ss5852102467, ss5874539100 NC_000018.10:63319603:G:T NC_000018.10:63319603:G:T (self)
ss21471367, ss76894403 NT_025028.13:8777682:G:T NC_000018.10:63319603:G:T (self)
ss3216615, ss6904557, ss44142015, ss76869508, ss103403672, ss137429571, ss244289123 NT_025028.14:8777700:G:T NC_000018.10:63319603:G:T (self)
Help

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

40 citations for rs2279115
PMID Title Author Year Journal
19237173 Bcl2 -938C/A polymorphism carries increased risk of biochemical recurrence after radical prostatectomy. Hirata H et al. 2009 The Journal of urology
19276283 Interaction between BCL2 and interleukin-10 gene polymorphisms alter outcomes of diffuse large B-cell lymphoma following rituximab plus CHOP chemotherapy. Park YH et al. 2009 Clinical cancer research
19390575 Lung cancer susceptibility model based on age, family history and genetic variants. Young RP et al. 2009 PloS one
19520430 BCL2 gene polymorphism could predict the treatment outcomes in acute myeloid leukemia patients. Moon JH et al. 2010 Leukemia research
19539330 The bcl2 -938CC genotype has poor prognosis and lower survival in renal cancer. Hirata H et al. 2009 The Journal of urology
21949582 A Polymorphism (rs1801018, Thr7Thr) of BCL2 is Associated with Papillary Thyroid Cancer in Korean Population. Eun YG et al. 2011 Clinical and experimental otorhinolaryngology
22546513 Interaction among apoptosis-associated sequence variants and joint effects on aggressive prostate cancer. Lavender NA et al. 2012 BMC medical genomics
22568453 Association of CASP3 polymorphism with hematologic toxicity in patients with advanced non-small-cell lung carcinoma treated with platinum-based chemotherapy. Gu S et al. 2012 Cancer science
23720679 Prognostic assessment of apoptotic gene polymorphisms in non-small cell lung cancer in Chinese. Cao S et al. 2013 Journal of biomedical research
23973201 Polymorphisms in DNA repair and apoptosis-related genes and clinical outcomes of patients with non-small cell lung cancer treated with first-line paclitaxel-cisplatin chemotherapy. Lee SY et al. 2013 Lung cancer (Amsterdam, Netherlands)
24321200 Influence of BCL2 gene in major depression susceptibility and antidepressant treatment outcome. Zhang C et al. 2014 Journal of affective disorders
24701578 The role of single nucleotide polymorphisms in predicting prostate cancer risk and therapeutic decision making. Van den Broeck T et al. 2014 BioMed research international
25257838 CC genotype of anti-apoptotic gene BCL-2 (-938 C/A) is an independent prognostic marker of unfavorable clinical outcome in patients with non-small-cell lung cancer. Javid J et al. 2015 Clinical & translational oncology
25430556 Role of Bcl-2 -938 C>A polymorphism in susceptibility and prognosis of cancer: a meta-analysis. Zhang X et al. 2014 Scientific reports
25991504 BAX and BCL-2 polymorphisms, as predictors of proliferative vitreoretinopathy development in patients suffering retinal detachment: the Retina 4 project. Pastor-Idoate S et al. 2015 Acta ophthalmologica
26132559 Functional BCL-2 regulatory genetic variants contribute to susceptibility of esophageal squamous cell carcinoma. Pan W et al. 2015 Scientific reports
26272263 Polymorphism in apoptotic BAX (-248G>A) gene but not in anti-apoptotic BCL2 (-938C>A) gene and its protein and mRNA expression are associated with cervical intraepithelial neoplasia. Fernandes AT et al. 2015 Apoptosis
26311051 Association of the functional BCL-2 rs2279115 genetic variant and small cell lung cancer. Yang X et al. 2016 Tumour biology
26344465 BCL2 gene polymorphisms and splicing variants in chronic myeloid leukemia. Guillem V et al. 2015 Leukemia research
26659608 A Novel Electrochemical Microfluidic Chip Combined with Multiple Biomarkers for Early Diagnosis of Gastric Cancer. Xie Y et al. 2015 Nanoscale research letters
26662799 Influence of BCL2-938 C>A promoter polymorphism and BCL2 gene expression on the progression of breast cancer. Bhushann Meka P et al. 2016 Tumour biology
26881923 The BCL2 -938C>A Promoter Polymorphism Is Associated with Risk for and Time to Aseptic Loosening of Total Hip Arthroplasty. Stelmach P et al. 2016 PloS one
26988918 MicroRNA-related polymorphisms in apoptosis pathway genes are predictive of clinical outcome in patients with limited disease small cell lung cancer. Jiang W et al. 2016 Oncotarget
27121382 Incorporating epistasis interaction of genetic susceptibility single nucleotide polymorphisms in a lung cancer risk prediction model. Marcus MW et al. 2016 International journal of oncology
27801956 Mutations in apoptotic genes and micronucleus occurrence in vinyl chloride-exposed workers in China. Feng N et al. 2017 Environmental and molecular mutagenesis
27822420 Genetic variants of BCL2 gene predict clinical outcomes of non-small-cell lung cancer patients treated with platinum-based chemotherapy in a Chinese population. Ding X et al. 2016 American journal of cancer research
27822610 Polymorphisms in cytokine genes as prognostic markers in diffuse large B cell lymphoma patients treated with (R)-CHOP. Liu D et al. 2017 Annals of hematology
28396899 BCL2 genotypes and prostate cancer survival. Renner W et al. 2017 Strahlentherapie und Onkologie
28417194 Impact of BCL2 polymorphisms on survival in transitional cell carcinoma of the bladder. Hess J et al. 2017 Journal of cancer research and clinical oncology
28445963 Genetic polymorphisms of Bcl-2 promoter in cancer susceptibility and prognosis: a meta-analysis. Yao Z et al. 2017 Oncotarget
28827732 Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies. Wang J et al. 2017 Scientific reports
28877516 BAX and BCL2 Gene Polymorphisms in Rhegmatogenous Retinal Detachment. Moschos MM et al. 2017 Ophthalmic research
30481055 Functional BCL-2 rs2279115 Promoter Noncoding Variant Contributes to Glioma Predisposition, Especially in Males. Qiu XG et al. 2019 DNA and cell biology
30701356 Genetic and epigenetic analysis of the BAX and BCL2 in the placenta of pregnant women complicated by preeclampsia. Mohammadpour-Gharehbagh A et al. 2019 Apoptosis
30937706 The role of FAS, FAS-L, BAX, and BCL-2 gene polymorphisms in determining susceptibility to unexplained recurrent pregnancy loss. Michita RT et al. 2019 Journal of assisted reproduction and genetics
30959967 Genetic Susceptibility in Head and Neck Squamous Cell Carcinoma in a Spanish Population. Fernández-Mateos J et al. 2019 Cancers
32619164 Correlation Between BCL2 and Mcl1 Single Nucleotide Polymorphisms and Chemotherapy Response in Jordanian Patients with Colorectal Cancer. Mhaidat NM et al. 2021 Current pharmaceutical biotechnology
32623689 Association of genetic polymorphism of BCL-2 (rs2279115) with susceptibility to HCV-related hepatocellular carcinoma. Ahmed HS et al. 2020 Immunologic research
35814404 Single Nucleotide Polymorphisms of EXOC1, BCL2, CCAT2, and CARD8 Genes and Susceptibility to Cervical Cancer in the Northern Chinese Han Population. Feng Y et al. 2022 Frontiers in oncology
35988104 The role of FASL, BCL-2 and BAX polymorphisms in brazilian patients with prostate cancer and benign prostatic hyperplasia. da Silva Lawisch GK et al. 2022 Molecular biology reports
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.post774+babeb33