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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.

rs2294008

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr8:142680513 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.46093 (72528/157352, GnomAD_exome)
T=0.43530 (54660/125568, TOPMED)
T=0.4705 (37014/78670, PAGE_STUDY) (+ 9 more)
T=0.4521 (14163/31330, GnomAD)
T=0.4626 (10281/22222, ExAC)
T=0.4187 (5131/12254, GO-ESP)
T=0.405 (2029/5008, 1000G)
C=0.468 (2098/4480, Estonian)
T=0.442 (1705/3854, ALSPAC)
T=0.450 (1667/3708, TWINSUK)
T=0.25 (151/611, Vietnamese)
T=0.45 (268/600, NorthernSweden)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PSCA : Intron Variant
Publications
78 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 8 NC_000008.11:g.142680513C>T
GRCh37.p13 chr 8 fix patch HG418_PATCH NW_003871066.2:g.50646C>T
PSCA RefSeqGene NG_011722.3:g.15206C>T
GRCh37.p13 chr 8 NC_000008.10:g.143761931C>T
Gene: PSCA, prostate stem cell antigen (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PSCA transcript variant 1 NM_005672.5:c. N/A 5 Prime UTR Variant
PSCA transcript variant 2 NR_033343.2:n. 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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 157352 C=0.53907 T=0.46093
gnomAD - Exomes European Sub 77310 C=0.5433 T=0.4567
gnomAD - Exomes Asian Sub 34012 C=0.6008 T=0.3992
gnomAD - Exomes American Sub 24834 C=0.4401 T=0.5599
gnomAD - Exomes Ashkenazi Jewish Sub 8550 C=0.491 T=0.509
gnomAD - Exomes African Sub 8238 C=0.599 T=0.401
gnomAD - Exomes Other Sub 4408 C=0.528 T=0.472
TopMed Global Study-wide 125568 C=0.56470 T=0.43530
The PAGE Study Global Study-wide 78670 C=0.5295 T=0.4705
The PAGE Study AfricanAmerican Sub 32500 C=0.5875 T=0.4125
The PAGE Study Mexican Sub 10810 C=0.4627 T=0.5373
The PAGE Study Asian Sub 8314 C=0.425 T=0.575
The PAGE Study PuertoRican Sub 7914 C=0.532 T=0.468
The PAGE Study NativeHawaiian Sub 4534 C=0.512 T=0.488
The PAGE Study Cuban Sub 4228 C=0.517 T=0.483
The PAGE Study Dominican Sub 3828 C=0.550 T=0.450
The PAGE Study CentralAmerican Sub 2450 C=0.415 T=0.585
The PAGE Study SouthAmerican Sub 1980 C=0.507 T=0.493
The PAGE Study NativeAmerican Sub 1260 C=0.546 T=0.454
The PAGE Study SouthAsian Sub 852 C=0.58 T=0.42
gnomAD - Genomes Global Study-wide 31330 C=0.5479 T=0.4521
gnomAD - Genomes European Sub 18862 C=0.5217 T=0.4783
gnomAD - Genomes African Sub 8696 C=0.583 T=0.417
gnomAD - Genomes East Asian Sub 1554 C=0.737 T=0.263
gnomAD - Genomes Other Sub 1086 C=0.507 T=0.493
gnomAD - Genomes American Sub 842 C=0.48 T=0.52
gnomAD - Genomes Ashkenazi Jewish Sub 290 C=0.55 T=0.45
ExAC Global Study-wide 22222 C=0.5374 T=0.4626
ExAC Europe Sub 10328 C=0.5176 T=0.4824
ExAC Asian Sub 8760 C=0.556 T=0.444
ExAC African Sub 2378 C=0.579 T=0.421
ExAC American Sub 556 C=0.44 T=0.56
ExAC Other Sub 200 C=0.51 T=0.49
GO Exome Sequencing Project Global Study-wide 12254 C=0.5813 T=0.4187
GO Exome Sequencing Project European American Sub 8240 C=0.565 T=0.435
GO Exome Sequencing Project African American Sub 4014 C=0.614 T=0.386
1000Genomes Global Study-wide 5008 C=0.595 T=0.405
1000Genomes African Sub 1322 C=0.632 T=0.368
1000Genomes East Asian Sub 1008 C=0.658 T=0.342
1000Genomes Europe Sub 1006 C=0.553 T=0.447
1000Genomes South Asian Sub 978 C=0.59 T=0.41
1000Genomes American Sub 694 C=0.50 T=0.50
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.468 T=0.532
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.558 T=0.442
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.550 T=0.450
A Vietnamese Genetic Variation Database Global Study-wide 611 C=0.75 T=0.25
Northern Sweden ACPOP Study-wide 600 C=0.55 T=0.45
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 C= T Note
GRCh38.p12 chr 8 NC_000008.11:g.142680513= NC_000008.11:g.14268051...

NC_000008.11:g.142680513C>T

GRCh37.p13 chr 8 fix patch HG418_PATCH NW_003871066.2:g.50646= NW_003871066.2:g.50646C>T
PSCA RefSeqGene NG_011722.3:g.15206= NG_011722.3:g.15206C>T
PSCA transcript variant 1 NM_005672.5:c.-26= NM_005672.5:c.-26C>T
PSCA transcript variant 1 NM_005672.4:c.-26= NM_005672.4:c.-26C>T
GRCh37.p13 chr 8 NC_000008.10:g.143761931= NC_000008.10:g.14376193...

NC_000008.10:g.143761931C>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#.

137 SubSNP, 12 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3237277 Sep 28, 2001 (100)
2 SC_JCM ss4119399 Nov 05, 2001 (101)
3 WI_SSAHASNP ss11959612 Jul 11, 2003 (116)
4 CSHL-HAPMAP ss17222984 Feb 27, 2004 (120)
5 SSAHASNP ss22674756 Apr 05, 2004 (121)
6 PERLEGEN ss24395070 Sep 20, 2004 (123)
7 MGC_GENOME_DIFF ss28509802 Sep 24, 2004 (126)
8 MGC_GENOME_DIFF ss28510251 Sep 24, 2004 (126)
9 ABI ss44921066 Mar 11, 2006 (126)
10 ILLUMINA ss65726672 Oct 14, 2006 (127)
11 ILLUMINA ss66581272 Nov 29, 2006 (127)
12 ILLUMINA ss67243607 Nov 29, 2006 (127)
13 ILLUMINA ss67640474 Nov 29, 2006 (127)
14 ILLUMINA ss70721945 May 25, 2008 (130)
15 ILLUMINA ss71290392 May 16, 2007 (127)
16 ILLUMINA ss74923543 Dec 06, 2007 (129)
17 ILLUMINA ss79127624 Dec 15, 2007 (130)
18 KRIBB_YJKIM ss80733295 Dec 15, 2007 (130)
19 KRIBB_YJKIM ss84025890 Dec 15, 2007 (130)
20 CORNELL ss86270934 Mar 23, 2008 (129)
21 BCMHGSC_JDW ss93987670 Mar 25, 2008 (129)
22 HUMANGENOME_JCVI ss98123191 Feb 05, 2009 (130)
23 BGI ss104585673 Dec 01, 2009 (131)
24 1000GENOMES ss108493186 Jan 23, 2009 (130)
25 ILLUMINA-UK ss116252400 Feb 14, 2009 (130)
26 ILLUMINA ss121991716 Dec 01, 2009 (131)
27 ENSEMBL ss143862869 Dec 01, 2009 (131)
28 ILLUMINA ss153900860 Dec 01, 2009 (131)
29 GMI ss157032266 Dec 01, 2009 (131)
30 ILLUMINA ss159378674 Dec 01, 2009 (131)
31 ILLUMINA ss160531451 Dec 01, 2009 (131)
32 ILLUMINA ss171172475 Jul 04, 2010 (132)
33 ILLUMINA ss173264196 Jul 04, 2010 (132)
34 BUSHMAN ss199933127 Jul 04, 2010 (132)
35 1000GENOMES ss224051988 Jul 14, 2010 (132)
36 1000GENOMES ss234678256 Jul 15, 2010 (132)
37 1000GENOMES ss241481411 Jul 15, 2010 (132)
38 BL ss254736127 May 09, 2011 (134)
39 GMI ss280052951 May 04, 2012 (137)
40 PJP ss294208470 May 09, 2011 (134)
41 PAGE_STUDY ss469414531 May 04, 2012 (137)
42 PAGE_STUDY ss469415053 May 04, 2012 (137)
43 ILLUMINA ss480515976 May 04, 2012 (137)
44 ILLUMINA ss480530199 May 04, 2012 (137)
45 ILLUMINA ss481340228 Sep 11, 2015 (146)
46 ILLUMINA ss485055359 May 04, 2012 (137)
47 EXOME_CHIP ss491417997 May 04, 2012 (137)
48 ILLUMINA ss537072419 Sep 11, 2015 (146)
49 TISHKOFF ss561152650 Apr 25, 2013 (138)
50 SSMP ss655583499 Apr 25, 2013 (138)
51 NHLBI-ESP ss712860966 Apr 25, 2013 (138)
52 ILLUMINA ss778864051 Sep 11, 2015 (146)
53 ILLUMINA ss780683291 Sep 11, 2015 (146)
54 ILLUMINA ss782973892 Sep 11, 2015 (146)
55 ILLUMINA ss783356681 Sep 11, 2015 (146)
56 ILLUMINA ss783935225 Sep 11, 2015 (146)
57 ILLUMINA ss825458142 Apr 01, 2015 (144)
58 ILLUMINA ss832230265 Sep 11, 2015 (146)
59 ILLUMINA ss832890469 Jul 13, 2019 (153)
60 ILLUMINA ss834324875 Sep 11, 2015 (146)
61 JMKIDD_LAB ss974469505 Apr 09, 2015 (144)
62 EVA-GONL ss986182530 Apr 09, 2015 (144)
63 JMKIDD_LAB ss1067500670 Apr 09, 2015 (144)
64 JMKIDD_LAB ss1076012840 Apr 09, 2015 (144)
65 1000GENOMES ss1332391018 Aug 28, 2014 (142)
66 DDI ss1431709013 Apr 09, 2015 (144)
67 EVA_GENOME_DK ss1582936025 Apr 09, 2015 (144)
68 EVA_DECODE ss1595804686 Apr 01, 2015 (144)
69 EVA_UK10K_ALSPAC ss1621992632 Apr 09, 2015 (144)
70 EVA_UK10K_TWINSUK ss1664986665 Apr 09, 2015 (144)
71 EVA_EXAC ss1689341608 Apr 09, 2015 (144)
72 EVA_MGP ss1711212264 Apr 09, 2015 (144)
73 EVA_SVP ss1713080777 Apr 01, 2015 (144)
74 ILLUMINA ss1752718205 Sep 11, 2015 (146)
75 ILLUMINA ss1752718206 Sep 11, 2015 (146)
76 HAMMER_LAB ss1805819815 Sep 11, 2015 (146)
77 ILLUMINA ss1917832660 Feb 17, 2016 (147)
78 WEILL_CORNELL_DGM ss1929456642 Feb 17, 2016 (147)
79 ILLUMINA ss1946249429 Feb 17, 2016 (147)
80 ILLUMINA ss1959153023 Feb 17, 2016 (147)
81 JJLAB ss2025435468 Sep 28, 2016 (149)
82 ILLUMINA ss2094834683 Oct 12, 2018 (152)
83 ILLUMINA ss2095216984 Oct 12, 2018 (152)
84 USC_VALOUEV ss2153665386 Oct 12, 2018 (152)
85 HUMAN_LONGEVITY ss2308362615 Dec 20, 2016 (150)
86 TOPMED ss2478338503 Oct 12, 2018 (152)
87 SYSTEMSBIOZJU ss2627193533 Oct 12, 2018 (152)
88 ILLUMINA ss2634820198 Oct 12, 2018 (152)
89 ILLUMINA ss2634820199 Oct 12, 2018 (152)
90 ILLUMINA ss2634820200 Oct 12, 2018 (152)
91 ILLUMINA ss2635190795 Nov 08, 2017 (151)
92 GRF ss2709456644 Oct 12, 2018 (152)
93 ILLUMINA ss2711153518 Oct 12, 2018 (152)
94 GNOMAD ss2737384639 Oct 12, 2018 (152)
95 GNOMAD ss2748116335 Oct 12, 2018 (152)
96 GNOMAD ss2874009728 Oct 12, 2018 (152)
97 AFFY ss2985451520 Oct 12, 2018 (152)
98 AFFY ss2986095951 Oct 12, 2018 (152)
99 SWEGEN ss3004186995 Oct 12, 2018 (152)
100 ILLUMINA ss3022894533 Oct 12, 2018 (152)
101 BIOINF_KMB_FNS_UNIBA ss3026505986 Nov 08, 2017 (151)
102 CSHL ss3348464106 Oct 12, 2018 (152)
103 TOPMED ss3578748744 Nov 08, 2017 (151)
104 ILLUMINA ss3630185343 Oct 12, 2018 (152)
105 ILLUMINA ss3630185344 Oct 12, 2018 (152)
106 ILLUMINA ss3632715330 Oct 12, 2018 (152)
107 ILLUMINA ss3633520294 Oct 12, 2018 (152)
108 ILLUMINA ss3634247900 Oct 12, 2018 (152)
109 ILLUMINA ss3635195849 Oct 12, 2018 (152)
110 ILLUMINA ss3635195850 Oct 12, 2018 (152)
111 ILLUMINA ss3635926220 Oct 12, 2018 (152)
112 ILLUMINA ss3636939522 Oct 12, 2018 (152)
113 ILLUMINA ss3637679481 Oct 12, 2018 (152)
114 ILLUMINA ss3638792869 Oct 12, 2018 (152)
115 ILLUMINA ss3639400046 Oct 12, 2018 (152)
116 ILLUMINA ss3639731670 Oct 12, 2018 (152)
117 ILLUMINA ss3640903140 Oct 12, 2018 (152)
118 ILLUMINA ss3640903141 Oct 12, 2018 (152)
119 ILLUMINA ss3643721498 Oct 12, 2018 (152)
120 ILLUMINA ss3644982713 Oct 12, 2018 (152)
121 OMUKHERJEE_ADBS ss3646382506 Oct 12, 2018 (152)
122 URBANLAB ss3649044029 Oct 12, 2018 (152)
123 ILLUMINA ss3653442577 Oct 12, 2018 (152)
124 ILLUMINA ss3653442578 Oct 12, 2018 (152)
125 ILLUMINA ss3654215311 Oct 12, 2018 (152)
126 EGCUT_WGS ss3671919392 Jul 13, 2019 (153)
127 EVA_DECODE ss3723237795 Jul 13, 2019 (153)
128 ILLUMINA ss3726581996 Jul 13, 2019 (153)
129 ACPOP ss3736204414 Jul 13, 2019 (153)
130 ILLUMINA ss3744584477 Jul 13, 2019 (153)
131 ILLUMINA ss3745495810 Jul 13, 2019 (153)
132 ILLUMINA ss3745495811 Jul 13, 2019 (153)
133 EVA ss3768761087 Jul 13, 2019 (153)
134 PAGE_CC ss3771477055 Jul 13, 2019 (153)
135 ILLUMINA ss3772987986 Jul 13, 2019 (153)
136 ILLUMINA ss3772987987 Jul 13, 2019 (153)
137 KHV_HUMAN_GENOMES ss3811920597 Jul 13, 2019 (153)
138 1000Genomes NC_000008.10 - 143761931 Oct 12, 2018 (152)
139 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 143761931 Oct 12, 2018 (152)
140 Genetic variation in the Estonian population NC_000008.10 - 143761931 Oct 12, 2018 (152)
141 ExAC NC_000008.10 - 143761931 Oct 12, 2018 (152)
142 gnomAD - Genomes NC_000008.10 - 143761931 Jul 13, 2019 (153)
143 gnomAD - Exomes NC_000008.10 - 143761931 Jul 13, 2019 (153)
144 GO Exome Sequencing Project NC_000008.10 - 143761931 Oct 12, 2018 (152)
145 Northern Sweden NC_000008.10 - 143761931 Jul 13, 2019 (153)
146 The PAGE Study NC_000008.11 - 142680513 Jul 13, 2019 (153)
147 TopMed NC_000008.11 - 142680513 Oct 12, 2018 (152)
148 UK 10K study - Twins NC_000008.10 - 143761931 Oct 12, 2018 (152)
149 A Vietnamese Genetic Variation Database NC_000008.10 - 143761931 Jul 13, 2019 (153)
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)
rs17775748 Oct 08, 2004 (123)
rs17855500 Mar 11, 2006 (126)
rs17855949 Mar 11, 2006 (126)
rs59574382 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss93987670, ss108493186, ss116252400, ss199933127, ss254736127, ss280052951, ss294208470, ss480515976, ss825458142, ss1595804686, ss1713080777, ss2635190795, ss3639400046, ss3639731670, ss3643721498 NC_000008.9:143758932:C:T NC_000008.11:142680512:C:T (self)
44605357, 24829886, 17657640, 9454100, 121913361, 6560597, 857898, 9489279, 24829886, 5513708, ss224051988, ss234678256, ss241481411, ss480530199, ss481340228, ss485055359, ss491417997, ss537072419, ss561152650, ss655583499, ss712860966, ss778864051, ss780683291, ss782973892, ss783356681, ss783935225, ss832230265, ss832890469, ss834324875, ss974469505, ss986182530, ss1067500670, ss1076012840, ss1332391018, ss1431709013, ss1582936025, ss1621992632, ss1664986665, ss1689341608, ss1711212264, ss1752718205, ss1752718206, ss1805819815, ss1917832660, ss1929456642, ss1946249429, ss1959153023, ss2025435468, ss2094834683, ss2095216984, ss2153665386, ss2478338503, ss2627193533, ss2634820198, ss2634820199, ss2634820200, ss2709456644, ss2711153518, ss2737384639, ss2748116335, ss2874009728, ss2985451520, ss2986095951, ss3004186995, ss3022894533, ss3348464106, ss3630185343, ss3630185344, ss3632715330, ss3633520294, ss3634247900, ss3635195849, ss3635195850, ss3635926220, ss3636939522, ss3637679481, ss3638792869, ss3640903140, ss3640903141, ss3644982713, ss3646382506, ss3653442577, ss3653442578, ss3654215311, ss3671919392, ss3736204414, ss3744584477, ss3745495810, ss3745495811, ss3768761087, ss3772987986, ss3772987987 NC_000008.10:143761930:C:T NC_000008.11:142680512:C:T (self)
698524, 403261240, ss2308362615, ss3026505986, ss3578748744, ss3649044029, ss3723237795, ss3726581996, ss3771477055, ss3811920597 NC_000008.11:142680512:C:T NC_000008.11:142680512:C:T (self)
ss3237277, ss4119399, ss24395070, ss28509802, ss28510251, ss44921066, ss65726672, ss66581272, ss67243607, ss67640474, ss70721945, ss71290392, ss74923543, ss79127624, ss80733295, ss84025890, ss86270934, ss98123191, ss104585673, ss121991716, ss143862869, ss153900860, ss157032266, ss159378674, ss160531451, ss171172475, ss173264196, ss469414531, ss469415053 NT_008046.16:57035479:C:T NC_000008.11:142680512:C:T (self)
ss11959612 NT_008127.14:48473:C:T NC_000008.11:142680512:C:T (self)
ss17222984, ss22674756 NT_008127.15:50710:C:T NC_000008.11:142680512:C:T (self)
Help

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

78 citations for rs2294008
PMID Title Author Year Journal
19554573 Two genetic variants in prostate stem cell antigen and gastric cancer susceptibility in a Chinese population. Wu C et al. 2009 Molecular carcinogenesis
19582881 Association of prostate stem cell antigen gene polymorphisms with the risk of stomach cancer in Japanese. Matsuo K et al. 2009 International journal of cancer
19648920 Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer. Wu X et al. 2009 Nature genetics
19906782 Genome-wide association studies in cancer--current and future directions. Chung CC et al. 2010 Carcinogenesis
20083643 Genetic variation in PSCA and bladder cancer susceptibility in a Chinese population. Wang S et al. 2010 Carcinogenesis
20131315 Genetic variation of PSCA gene is associated with the risk of both diffuse- and intestinal-type gastric cancer in a Chinese population. Lu Y et al. 2010 International journal of cancer
20230293 Association and haplotype analysis of prostate stem cell antigen with gastric cancer in Tibetans. Ou J et al. 2010 DNA and cell biology
20505153 A compendium of genome-wide associations for cancer: critical synopsis and reappraisal. Ioannidis JP et al. 2010 Journal of the National Cancer Institute
20585100 Genome-wide association studies of cancer. Stadler ZK et al. 2010 Journal of clinical oncology
20729852 A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma. Abnet CC et al. 2010 Nature genetics
20972438 A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci. Rothman N et al. 2010 Nature genetics
21064099 Genetic variant in PSCA predicts survival of diffuse-type gastric cancer in a Chinese population. Wang M et al. 2011 International journal of cancer
21070776 Genetic variation in the prostate stem cell antigen gene and upper gastrointestinal cancer in white individuals. Lochhead P et al. 2011 Gastroenterology
21070779 A functional single nucleotide polymorphism in mucin 1, at chromosome 1q22, determines susceptibility to diffuse-type gastric cancer. Saeki N et al. 2011 Gastroenterology
21081471 Genetic variations on chromosomes 5p15 and 15q25 and bladder cancer risk: findings from the Los Angeles-Shanghai bladder case-control study. Gago-Dominguez M et al. 2011 Carcinogenesis
21268123 Polymorphisms in prostate stem cell antigen gene rs2294008 increase gastric cancer risk in Chinese. Zeng Z et al. 2011 Molecular carcinogenesis
21427165 Genetic variants at 1q22 and 10q23 reproducibly associated with gastric cancer susceptibility in a Chinese population. Zhang H et al. 2011 Carcinogenesis
21459758 Chromosome 4p16.3 variant modify bladder cancer risk in a Chinese population. Wang M et al. 2011 Carcinogenesis
21538581 Association of a common genetic variant in prostate stem-cell antigen with gastric cancer susceptibility in a Korean population. Song HR et al. 2011 Molecular carcinogenesis
21681742 Prostate stem-cell antigen gene is associated with diffuse and intestinal gastric cancer in Caucasians: results from the EPIC-EURGAST study. Sala N et al. 2012 International journal of cancer
21750109 European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene. Rafnar T et al. 2011 Human molecular genetics
21907010 Genome-wide comparison of African-ancestry populations from CARe and other cohorts reveals signals of natural selection. Bhatia G et al. 2011 American journal of human genetics
21927616 Genetic susceptibility to bladder cancer risk and outcome. Gu J et al. 2011 Personalized medicine
22037551 A genome-wide association study identifies new susceptibility loci for non-cardia gastric cancer at 3q13.31 and 5p13.1. Shi Y et al. 2011 Nature genetics
22387998 A genome-wide association study identifies two susceptibility loci for duodenal ulcer in the Japanese population. Tanikawa C et al. 2012 Nature genetics
22416122 Common genetic variants in the PSCA gene influence gene expression and bladder cancer risk. Fu YP et al. 2012 Proceedings of the National Academy of Sciences of the United States of America
22426141 Prostate stem cell antigen polymorphisms and susceptibility to gastric cancer: a systematic review and meta-analysis. Wang T et al. 2012 Cancer epidemiology, biomarkers & prevention
22481254 The PSCA polymorphisms derived from genome-wide association study are associated with risk of gastric cancer: a meta-analysis. Shi D et al. 2012 Journal of cancer research and clinical oncology
22711262 Systematic evaluation of bladder cancer risk-associated single-nucleotide polymorphisms in a Chinese population. Ma Z et al. 2013 Molecular carcinogenesis
22768238 A microRNA-7 binding site polymorphism in HOXB5 leads to differential gene expression in bladder cancer. Luo J et al. 2012 PloS one
22824379 Lack of association between the rs2294008 polymorphism in the prostate stem cell antigen gene and colorectal neoplasia: a case-control and immunohistochemical study. Smith C et al. 2012 BMC research notes
23266392 Genetic variant as a selection marker for anti-prostate stem cell antigen immunotherapy of bladder cancer. Kohaar I et al. 2013 Journal of the National Cancer Institute
23330817 Evolution of the concept of androgen-sensitive bladder cancer. Gakis G et al. 2013 Scandinavian journal of urology
23397433 Gender-specific differences in muscle-invasive bladder cancer: the concept of sex steroid sensitivity. Gakis G et al. 2013 World journal of urology
23397970 Interpersonal and genetic origins of adult attachment styles: a longitudinal study from infancy to early adulthood. Fraley RC et al. 2013 Journal of personality and social psychology
23988503 PSCA gene variants (rs2294008 and rs2978974) confer increased susceptibility of gallbladder carcinoma in females. Rai R et al. 2013 Gene
24146278 Quantitative assessment of the influence of prostate stem cell antigen polymorphisms on gastric cancer risk. Gu X et al. 2014 Tumour biology
24155119 Genetic score of multiple risk-associated single nucleotide polymorphisms is a marker for genetic susceptibility to bladder cancer. Wang P et al. 2014 Genes, chromosomes & cancer
24654646 Genetic variants at 8q24 are associated with risk of esophageal squamous cell carcinoma in a Chinese population. Dai N et al. 2014 Cancer science
24740636 Cumulative effect of genome-wide association study-identified genetic variants for bladder cancer. Wang M et al. 2014 International journal of cancer
24782603 Role of gene polymorphisms in gastric cancer and its precursor lesions: current knowledge and perspectives in Latin American countries. Chiurillo MA et al. 2014 World journal of gastroenterology
24810688 Mucin 1 gene (MUC1) and gastric-cancer susceptibility. Saeki N et al. 2014 International journal of molecular sciences
24962126 Genetic and intermediate phenotypic susceptibility markers of gastric cancer in Hispanic Americans: a case-control study. Sun Y et al. 2014 Cancer
25582162 Influence of prostate stem cell antigen gene polymorphisms on susceptibility to Helicobacter pylori-associated diseases: a case-control study. Ichikawa H et al. 2015 Helicobacter
25624885 Association between PSCA mRNA expression levels and rs2294008 polymorphism in transitional cell cancer of the bladder. Zheng K et al. 2015 Oncology letters
25658482 Associations of genetic variants in the PSCA, MUC1 and PLCE1 genes with stomach cancer susceptibility in a Chinese population. Sun H et al. 2015 PloS one
25721731 Association of PSCA rs2294008 gene variants with poor prognosis and increased susceptibility to gastric cancer and decreased risk of duodenal ulcer disease. García-González MA et al. 2015 International journal of cancer
25727947 rs2294008T, a risk allele for gastric and gallbladder cancers, suppresses the PSCA promoter by recruiting the transcription factor YY1. Saeki N et al. 2015 Genes to cells
25731870 Genetic variation and gastric cancer risk: a field synopsis and meta-analysis. Mocellin S et al. 2015 Gut
26006239 The Influence of PSCA Gene Variation on Its Expression and Gastric Adenocarcinoma Susceptibility in the Northwest Chinese Population. Zhang W et al. 2015 International journal of molecular sciences
26109531 Functional annotation of high-quality SNP biomarkers of gastric cancer susceptibility: the Yin Yang of PSCA rs2294008. Sung H et al. 2016 Gut
26129866 Genome-wide association study of gastric adenocarcinoma in Asia: a comparison of associations between cardia and non-cardia tumours. Hu N et al. 2016 Gut
26308216 PSCA rs2294008 Polymorphism with Increased Risk of Cancer. Geng P et al. 2015 PloS one
26602921 A Multiple Interaction Analysis Reveals ADRB3 as a Potential Candidate for Gallbladder Cancer Predisposition via a Complex Interaction with Other Candidate Gene Variations. Rai R et al. 2015 International journal of molecular sciences
26659608 A Novel Electrochemical Microfluidic Chip Combined with Multiple Biomarkers for Early Diagnosis of Gastric Cancer. Xie Y et al. 2015 Nanoscale research letters
26785734 PSCA acts as a tumor suppressor by facilitating the nuclear translocation of RB1CC1 in esophageal squamous cell carcinoma. Zhang LY et al. 2016 Carcinogenesis
26848528 PSCA polymorphisms and gastric cancer susceptibility in an eastern Chinese population. Qiu LX et al. 2016 Oncotarget
26891331 Impact of DCC (rs714) and PSCA (rs2294008 and rs2976392) Gene Polymorphism in Modulating Cancer Risk in Asian Population. Chandra V et al. 2016 Genes
26937134 Molecular alterations in gastric cancer with special reference to the early-onset subtype. Skierucha M et al. 2016 World journal of gastroenterology
27001215 PSCA rs2294008 polymorphism contributes to the decreased risk for cervical cancer in a Chinese population. Wang S et al. 2016 Scientific reports
27050280 Single-nucleotide polymorphisms in PSCA and the risk of breast cancer in a Chinese population. Wang M et al. 2016 Oncotarget
27079684 Genome-wide association studies and epigenome-wide association studies go together in cancer control. Verma M et al. 2016 Future oncology (London, England)
27116470 Prognostic Significance of Tag SNP rs1045411 in HMGB1 of the Aggressive Gastric Cancer in a Chinese Population. Bao G et al. 2016 PloS one
27127881 Risk prediction for early-onset gastric carcinoma: a case-control study of polygenic gastric cancer in Han Chinese with hereditary background. Yuan J et al. 2016 Oncotarget
28220687 Environmental factors, seven GWAS-identified susceptibility loci, and risk of gastric cancer and its precursors in a Chinese population. Cai M et al. 2017 Cancer medicine
28348449 Combined Genetic Biomarkers Confer Susceptibility to Risk of Urothelial Bladder Carcinoma in a Saudi Population. Elhawary NA et al. 2017 Disease markers
28652652 Gallbladder cancer epidemiology, pathogenesis and molecular genetics: Recent update. Sharma A et al. 2017 World journal of gastroenterology
28808221 Genetic variation of the PSCA gene (rs2294008) is not associated with the risk of prostate cancer. Lee IS et al. 2017 Journal of biomedical research
28881685 Association between PSCA gene polymorphisms and the risk of cancer: an updated meta-analysis and trial sequential analysis. Qin Z et al. 2017 Oncotarget
29028942 Association of high-evidence gastric cancer susceptibility loci and somatic gene expression levels with survival. Sung H et al. 2017 Carcinogenesis
29138729 Association of rs2294008 and rs9297976 Polymorphisms in PSCA Gene with Gastric Cancer Susceptibility in Uzbekistan. Turdikulova S et al. 2016 Central Asian journal of global health
29423095 Decrease in <i>PSCA</i> expression caused by <i>Helicobacter pylori</i> infection may promote progression to severe gastritis. Toyoshima O et al. 2018 Oncotarget
29732392 Bladder Cancer Genetic Susceptibility. A Systematic Review. de Maturana EL et al. 2018 Bladder cancer (Amsterdam, Netherlands)
29844822 Correlation between prostate stem cell antigen gene expression and oral squamous cell carcinoma. Zhao K et al. 2018 Oncology letters
30189721 Genome-Wide Association of Genetic Variation in the PSCA Gene with Gastric Cancer Susceptibility in a Korean Population. Park B et al. 2019 Cancer research and treatment
30407486 Variants in the PSCA gene associated with risk of cancer and nonneoplastic diseases: systematic research synopsis, meta-analysis and epidemiological evidence. Cui H et al. 2019 Carcinogenesis
31008939 Contribution of prostate stem cell antigen variation rs2294008 to the risk of bladder cancer. Deng S et al. 2019 Medicine
31213476 Prostate Stem Cell Antigen Gene Polymorphism Is Associated with <i>H. pylori</i>-related Promoter DNA Methylation in Nonneoplastic Gastric Epithelium. Tahara T et al. 2019 Cancer prevention research (Philadelphia, Pa.)

Genomic regions, transcripts, and products
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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.
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