Skip to main page content
Accesskeys

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.

rs9295536

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr6:22131700 (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>A
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.41174 (51701/125568, TOPMED)
C=0.2923 (23005/78700, PAGE_STUDY)
C=0.4164 (13006/31236, GnomAD) (+ 6 more)
C=0.323 (1616/5008, 1000G)
A=0.464 (2077/4480, Estonian)
A=0.440 (1697/3854, ALSPAC)
A=0.450 (1667/3708, TWINSUK)
A=0.44 (264/600, NorthernSweden)
C=0.18 (38/212, Vietnamese)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CASC15 : Intron Variant
Publications
12 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 6 NC_000006.12:g.22131700C>A
GRCh37.p13 chr 6 NC_000006.11:g.22131929C>A
Gene: CASC15, cancer susceptibility 15 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CASC15 transcript NR_015410.2: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
TopMed Global Study-wide 125568 C=0.41174 A=0.58826
The PAGE Study Global Study-wide 78700 C=0.2923 A=0.7077
The PAGE Study AfricanAmerican Sub 32516 C=0.1998 A=0.8002
The PAGE Study Mexican Sub 10810 C=0.3465 A=0.6535
The PAGE Study Asian Sub 8318 C=0.272 A=0.728
The PAGE Study PuertoRican Sub 7918 C=0.386 A=0.614
The PAGE Study NativeHawaiian Sub 4534 C=0.360 A=0.640
The PAGE Study Cuban Sub 4228 C=0.478 A=0.522
The PAGE Study Dominican Sub 3828 C=0.358 A=0.642
The PAGE Study CentralAmerican Sub 2450 C=0.343 A=0.657
The PAGE Study SouthAmerican Sub 1982 C=0.346 A=0.654
The PAGE Study NativeAmerican Sub 1260 C=0.427 A=0.573
The PAGE Study SouthAsian Sub 856 C=0.41 A=0.59
gnomAD - Genomes Global Study-wide 31236 C=0.4164 A=0.5836
gnomAD - Genomes European Sub 18804 C=0.5361 A=0.4639
gnomAD - Genomes African Sub 8662 C=0.181 A=0.819
gnomAD - Genomes East Asian Sub 1556 C=0.248 A=0.752
gnomAD - Genomes Other Sub 1082 C=0.477 A=0.523
gnomAD - Genomes American Sub 842 C=0.35 A=0.65
gnomAD - Genomes Ashkenazi Jewish Sub 290 C=0.56 A=0.44
1000Genomes Global Study-wide 5008 C=0.323 A=0.677
1000Genomes African Sub 1322 C=0.104 A=0.896
1000Genomes East Asian Sub 1008 C=0.274 A=0.726
1000Genomes Europe Sub 1006 C=0.567 A=0.433
1000Genomes South Asian Sub 978 C=0.40 A=0.60
1000Genomes American Sub 694 C=0.35 A=0.65
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.536 A=0.464
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.560 A=0.440
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.550 A=0.450
Northern Sweden ACPOP Study-wide 600 C=0.56 A=0.44
A Vietnamese Genetic Variation Database Global Study-wide 212 C=0.18 A=0.82
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= A Note
GRCh38.p12 chr 6 NC_000006.12:g.22131700= NC_000006.12:g.22131700C>A
GRCh37.p13 chr 6 NC_000006.11:g.22131929= NC_000006.11:g.22131929C>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#.

110 SubSNP, 9 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss12832941 Dec 05, 2003 (119)
2 PERLEGEN ss14869224 Dec 05, 2003 (119)
3 CSHL-HAPMAP ss20292808 Feb 27, 2004 (120)
4 PERLEGEN ss24388014 Sep 20, 2004 (123)
5 ABI ss44742631 Mar 13, 2006 (126)
6 KRIBB_YJKIM ss65847671 Dec 01, 2006 (127)
7 AFFY ss66022182 Dec 01, 2006 (127)
8 ILLUMINA ss66821256 Dec 01, 2006 (127)
9 ILLUMINA ss67899828 Dec 01, 2006 (127)
10 ILLUMINA ss68032547 Dec 01, 2006 (127)
11 PERLEGEN ss68968098 May 17, 2007 (127)
12 ILLUMINA ss71597207 May 17, 2007 (127)
13 ILLUMINA ss75838630 Dec 07, 2007 (129)
14 ILLUMINA ss79291097 Dec 15, 2007 (130)
15 HGSV ss84463594 Dec 15, 2007 (130)
16 KRIBB_YJKIM ss84796514 Dec 15, 2007 (130)
17 ILLUMINA ss98241306 May 26, 2008 (130)
18 BGI ss105985940 Feb 06, 2009 (130)
19 1000GENOMES ss109819750 Jan 24, 2009 (130)
20 1000GENOMES ss114013163 Jan 25, 2009 (130)
21 ILLUMINA-UK ss116346443 Feb 14, 2009 (130)
22 ILLUMINA ss122960328 Dec 01, 2009 (131)
23 ENSEMBL ss143788542 Dec 01, 2009 (131)
24 ILLUMINA ss154484381 Dec 01, 2009 (131)
25 GMI ss156626548 Dec 01, 2009 (131)
26 ILLUMINA ss159658561 Dec 01, 2009 (131)
27 ILLUMINA ss160973216 Dec 01, 2009 (131)
28 COMPLETE_GENOMICS ss162108374 Jul 04, 2010 (132)
29 COMPLETE_GENOMICS ss163238303 Jul 04, 2010 (132)
30 ILLUMINA ss172440655 Jul 04, 2010 (132)
31 ILLUMINA ss174797003 Jul 04, 2010 (132)
32 BUSHMAN ss201519398 Jul 04, 2010 (132)
33 BCM-HGSC-SUB ss207418295 Jul 04, 2010 (132)
34 1000GENOMES ss222254198 Jul 14, 2010 (132)
35 1000GENOMES ss233356301 Jul 14, 2010 (132)
36 1000GENOMES ss240433520 Jul 15, 2010 (132)
37 BL ss254102655 May 09, 2011 (134)
38 GMI ss278683284 May 04, 2012 (137)
39 GMI ss285355110 Apr 25, 2013 (138)
40 PJP ss293805732 May 09, 2011 (134)
41 ILLUMINA ss481855102 May 04, 2012 (137)
42 ILLUMINA ss481887889 May 04, 2012 (137)
43 ILLUMINA ss482848326 Sep 08, 2015 (146)
44 ILLUMINA ss485721959 May 04, 2012 (137)
45 ILLUMINA ss537582150 Sep 08, 2015 (146)
46 TISHKOFF ss559060207 Apr 25, 2013 (138)
47 SSMP ss652968082 Apr 25, 2013 (138)
48 ILLUMINA ss779005379 Sep 08, 2015 (146)
49 ILLUMINA ss783306643 Sep 08, 2015 (146)
50 ILLUMINA ss784258833 Sep 08, 2015 (146)
51 ILLUMINA ss825621615 Jul 19, 2016 (147)
52 ILLUMINA ss832568046 Sep 08, 2015 (146)
53 ILLUMINA ss833169341 Jul 13, 2019 (153)
54 ILLUMINA ss834467796 Sep 08, 2015 (146)
55 EVA-GONL ss982669990 Aug 21, 2014 (142)
56 JMKIDD_LAB ss1073444592 Aug 21, 2014 (142)
57 1000GENOMES ss1319286579 Aug 21, 2014 (142)
58 DDI ss1430663963 Apr 01, 2015 (144)
59 EVA_GENOME_DK ss1581566072 Apr 01, 2015 (144)
60 EVA_DECODE ss1592221671 Apr 01, 2015 (144)
61 EVA_UK10K_ALSPAC ss1615122561 Apr 01, 2015 (144)
62 EVA_UK10K_TWINSUK ss1658116594 Apr 01, 2015 (144)
63 EVA_SVP ss1712842566 Apr 01, 2015 (144)
64 ILLUMINA ss1752619317 Sep 08, 2015 (146)
65 HAMMER_LAB ss1804317446 Sep 08, 2015 (146)
66 WEILL_CORNELL_DGM ss1925925130 Feb 12, 2016 (147)
67 ILLUMINA ss1946169199 Feb 12, 2016 (147)
68 ILLUMINA ss1958869775 Feb 12, 2016 (147)
69 GENOMED ss1970331523 Jul 19, 2016 (147)
70 JJLAB ss2023582321 Sep 14, 2016 (149)
71 USC_VALOUEV ss2151747745 Nov 08, 2017 (151)
72 HUMAN_LONGEVITY ss2282435080 Dec 20, 2016 (150)
73 TOPMED ss2450787683 Dec 20, 2016 (150)
74 SYSTEMSBIOZJU ss2626279450 Nov 08, 2017 (151)
75 ILLUMINA ss2634411143 Nov 08, 2017 (151)
76 GRF ss2707336048 Nov 08, 2017 (151)
77 ILLUMINA ss2711062073 Nov 08, 2017 (151)
78 GNOMAD ss2836676762 Nov 08, 2017 (151)
79 AFFY ss2985986125 Nov 08, 2017 (151)
80 SWEGEN ss2998647358 Nov 08, 2017 (151)
81 ILLUMINA ss3022582150 Nov 08, 2017 (151)
82 BIOINF_KMB_FNS_UNIBA ss3025577250 Nov 08, 2017 (151)
83 CSHL ss3346875284 Nov 08, 2017 (151)
84 TOPMED ss3492172344 Nov 08, 2017 (151)
85 ILLUMINA ss3625895687 Oct 12, 2018 (152)
86 ILLUMINA ss3629462581 Oct 12, 2018 (152)
87 ILLUMINA ss3632330844 Oct 12, 2018 (152)
88 ILLUMINA ss3633409340 Oct 12, 2018 (152)
89 ILLUMINA ss3634131458 Oct 12, 2018 (152)
90 ILLUMINA ss3635048056 Oct 12, 2018 (152)
91 ILLUMINA ss3635812714 Oct 12, 2018 (152)
92 ILLUMINA ss3636763854 Oct 12, 2018 (152)
93 ILLUMINA ss3637565439 Oct 12, 2018 (152)
94 ILLUMINA ss3638611726 Oct 12, 2018 (152)
95 ILLUMINA ss3639309009 Oct 12, 2018 (152)
96 ILLUMINA ss3639679625 Oct 12, 2018 (152)
97 ILLUMINA ss3640755352 Oct 12, 2018 (152)
98 ILLUMINA ss3643553180 Oct 12, 2018 (152)
99 ILLUMINA ss3644902270 Oct 12, 2018 (152)
100 ILLUMINA ss3653091838 Oct 12, 2018 (152)
101 EGCUT_WGS ss3666579024 Jul 13, 2019 (153)
102 EVA_DECODE ss3716747903 Jul 13, 2019 (153)
103 ILLUMINA ss3726317083 Jul 13, 2019 (153)
104 ACPOP ss3733277413 Jul 13, 2019 (153)
105 ILLUMINA ss3744267730 Jul 13, 2019 (153)
106 ILLUMINA ss3745348152 Jul 13, 2019 (153)
107 EVA ss3764712450 Jul 13, 2019 (153)
108 PAGE_CC ss3771267898 Jul 13, 2019 (153)
109 ILLUMINA ss3772841923 Jul 13, 2019 (153)
110 KHV_HUMAN_GENOMES ss3807876034 Jul 13, 2019 (153)
111 1000Genomes NC_000006.11 - 22131929 Oct 12, 2018 (152)
112 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 22131929 Oct 12, 2018 (152)
113 Genetic variation in the Estonian population NC_000006.11 - 22131929 Oct 12, 2018 (152)
114 gnomAD - Genomes NC_000006.11 - 22131929 Jul 13, 2019 (153)
115 Northern Sweden NC_000006.11 - 22131929 Jul 13, 2019 (153)
116 The PAGE Study NC_000006.12 - 22131700 Jul 13, 2019 (153)
117 TopMed NC_000006.12 - 22131700 Oct 12, 2018 (152)
118 UK 10K study - Twins NC_000006.11 - 22131929 Oct 12, 2018 (152)
119 A Vietnamese Genetic Variation Database NC_000006.11 - 22131929 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)
rs17676121 Oct 08, 2004 (123)
rs60457475 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss84463594, ss3639309009, ss3639679625 NC_000006.9:22239907:C:A NC_000006.12:22131699:C:A (self)
ss109819750, ss114013163, ss116346443, ss162108374, ss163238303, ss201519398, ss207418295, ss254102655, ss278683284, ss285355110, ss293805732, ss481855102, ss825621615, ss1592221671, ss1712842566, ss3643553180 NC_000006.10:22239907:C:A NC_000006.12:22131699:C:A (self)
31042549, 17294479, 12317272, 84934020, 6562278, 17294479, 3827625, ss222254198, ss233356301, ss240433520, ss481887889, ss482848326, ss485721959, ss537582150, ss559060207, ss652968082, ss779005379, ss783306643, ss784258833, ss832568046, ss833169341, ss834467796, ss982669990, ss1073444592, ss1319286579, ss1430663963, ss1581566072, ss1615122561, ss1658116594, ss1752619317, ss1804317446, ss1925925130, ss1946169199, ss1958869775, ss1970331523, ss2023582321, ss2151747745, ss2450787683, ss2626279450, ss2634411143, ss2707336048, ss2711062073, ss2836676762, ss2985986125, ss2998647358, ss3022582150, ss3346875284, ss3625895687, ss3629462581, ss3632330844, ss3633409340, ss3634131458, ss3635048056, ss3635812714, ss3636763854, ss3637565439, ss3638611726, ss3640755352, ss3644902270, ss3653091838, ss3666579024, ss3733277413, ss3744267730, ss3745348152, ss3764712450, ss3772841923 NC_000006.11:22131928:C:A NC_000006.12:22131699:C:A (self)
489367, 333725037, ss2282435080, ss3025577250, ss3492172344, ss3716747903, ss3726317083, ss3771267898, ss3807876034 NC_000006.12:22131699:C:A NC_000006.12:22131699:C:A (self)
ss12832941, ss20292808 NT_007592.13:12990179:C:A NC_000006.12:22131699:C:A (self)
ss14869224, ss24388014, ss44742631, ss65847671, ss66022182, ss66821256, ss67899828, ss68032547, ss68968098, ss71597207, ss75838630, ss79291097, ss84796514, ss98241306, ss105985940, ss122960328, ss143788542, ss154484381, ss156626548, ss159658561, ss160973216, ss172440655, ss174797003 NT_007592.15:22071928:C:A NC_000006.12:22131699:C:A (self)
Help

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

12 citations for rs9295536
PMID Title Author Year Journal
18463370 Chromosome 6p22 locus associated with clinically aggressive neuroblastoma. Maris JM et al. 2008 The New England journal of medicine
19412175 Common variations in BARD1 influence susceptibility to high-risk neuroblastoma. Capasso M et al. 2009 Nature genetics
19822692 A hidden Markov random field model for genome-wide association studies. Li H et al. 2010 Biostatistics (Oxford, England)
20585100 Genome-wide association studies of cancer. Stadler ZK et al. 2010 Journal of clinical oncology
22328350 Replication of neuroblastoma SNP association at the BARD1 locus in African-Americans. Latorre V et al. 2012 Cancer epidemiology, biomarkers & prevention
25821387 A Bayesian Approach for Graph-constrained Estimation for High-dimensional Regression. Sun H et al. 2010 International journal of systems and synthetic biology
26307394 Evaluation of GWAS-identified SNPs at 6p22 with neuroblastoma susceptibility in a Chinese population. He J et al. 2016 Tumour biology
27019310 Association of potentially functional variants in the XPG gene with neuroblastoma risk in a Chinese population. He J et al. 2016 Journal of cellular and molecular medicine
27021521 Potentially functional polymorphisms in the LIN28B gene contribute to neuroblastoma susceptibility in Chinese children. He J et al. 2016 Journal of cellular and molecular medicine
27847809 Lack of Associations between <i>XPC</i> Gene Polymorphisms and Neuroblastoma Susceptibility in a Chinese Population. Zheng J et al. 2016 BioMed research international
29024823 Genetic Variations of GWAS-Identified Genes and Neuroblastoma Susceptibility: a Replication Study in Southern Chinese Children. He J et al. 2017 Translational oncology
29207648 <i>CASC15</i> gene polymorphisms reduce neuroblastoma risk in Chinese children. Zhang J et al. 2017 Oncotarget

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.post246+3cda961