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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.

rs7947841

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr11:34470133 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.11463 (14394/125568, TOPMED)
A=0.1011 (3172/31362, GnomAD)
A=0.127 (634/5008, 1000G) (+ 4 more)
A=0.079 (356/4480, Estonian)
A=0.094 (362/3854, ALSPAC)
A=0.082 (303/3708, TWINSUK)
A=0.09 (56/600, NorthernSweden)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CAT : Intron Variant
Publications
2 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 11 NC_000011.10:g.34470133G>A
GRCh37.p13 chr 11 NC_000011.9:g.34491680G>A
CAT RefSeqGene NG_013339.2:g.36209G>A
CAT RefSeqGene NG_013339.1:g.36209G>A
Gene: CAT, catalase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CAT transcript NM_001752.4:c. N/A Intron Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

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").

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Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 125568 G=0.88537 A=0.11463
gnomAD - Genomes Global Study-wide 31362 G=0.8989 A=0.1011
gnomAD - Genomes European Sub 18888 G=0.9121 A=0.0879
gnomAD - Genomes African Sub 8702 G=0.903 A=0.097
gnomAD - Genomes East Asian Sub 1550 G=0.704 A=0.296
gnomAD - Genomes Other Sub 1084 G=0.901 A=0.099
gnomAD - Genomes American Sub 848 G=0.91 A=0.09
gnomAD - Genomes Ashkenazi Jewish Sub 290 G=0.90 A=0.10
1000Genomes Global Study-wide 5008 G=0.873 A=0.127
1000Genomes African Sub 1322 G=0.902 A=0.098
1000Genomes East Asian Sub 1008 G=0.696 A=0.304
1000Genomes Europe Sub 1006 G=0.906 A=0.094
1000Genomes South Asian Sub 978 G=0.97 A=0.03
1000Genomes American Sub 694 G=0.90 A=0.10
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.921 A=0.079
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.906 A=0.094
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.918 A=0.082
Northern Sweden ACPOP Study-wide 600 G=0.91 A=0.09
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 Note
GRCh38.p12 chr 11 NC_000011.10:g.34470133= NC_000011.10:g.34470133G>A
GRCh37.p13 chr 11 NC_000011.9:g.34491680= NC_000011.9:g.34491680G>A
CAT RefSeqGene NG_013339.2:g.36209= NG_013339.2:g.36209G>A
CAT RefSeqGene NG_013339.1:g.36209= NG_013339.1:g.36209G>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#.

71 SubSNP, 7 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss12165291 Jul 11, 2003 (116)
2 CSHL-HAPMAP ss16515953 Feb 27, 2004 (120)
3 PGA-UW-FHCRC ss28527661 Dec 02, 2004 (126)
4 ABI ss40009102 Mar 10, 2006 (126)
5 ILLUMINA ss75236412 Dec 07, 2007 (129)
6 KRIBB_YJKIM ss80778484 Dec 16, 2007 (130)
7 HUMANGENOME_JCVI ss97467153 Feb 06, 2009 (130)
8 KRIBB_YJKIM ss119576502 Dec 01, 2009 (131)
9 ENSEMBL ss131992254 Dec 01, 2009 (131)
10 ILLUMINA ss160932148 Dec 01, 2009 (131)
11 ILLUMINA ss174633624 Jul 04, 2010 (132)
12 1000GENOMES ss225185559 Jul 14, 2010 (132)
13 1000GENOMES ss235515392 Jul 15, 2010 (132)
14 1000GENOMES ss242156227 Jul 15, 2010 (132)
15 ILLUMINA ss244311664 Jul 04, 2010 (132)
16 GMI ss280954069 May 04, 2012 (137)
17 PJP ss291217426 May 09, 2011 (134)
18 ILLUMINA ss481728078 May 04, 2012 (137)
19 ILLUMINA ss481759577 May 04, 2012 (137)
20 ILLUMINA ss482725110 Sep 08, 2015 (146)
21 ILLUMINA ss485658781 May 04, 2012 (137)
22 ILLUMINA ss537534740 Sep 08, 2015 (146)
23 TISHKOFF ss562493362 Apr 25, 2013 (138)
24 SSMP ss657984875 Apr 25, 2013 (138)
25 ILLUMINA ss778620754 Sep 08, 2015 (146)
26 ILLUMINA ss783274951 Sep 08, 2015 (146)
27 ILLUMINA ss784228060 Sep 08, 2015 (146)
28 ILLUMINA ss832536023 Sep 08, 2015 (146)
29 ILLUMINA ss834078256 Sep 08, 2015 (146)
30 EVA-GONL ss988393815 Aug 21, 2014 (142)
31 JMKIDD_LAB ss1077637646 Aug 21, 2014 (142)
32 1000GENOMES ss1340792077 Aug 21, 2014 (142)
33 DDI ss1426596651 Apr 01, 2015 (144)
34 EVA_GENOME_DK ss1575638508 Apr 01, 2015 (144)
35 EVA_DECODE ss1598070327 Apr 01, 2015 (144)
36 EVA_UK10K_ALSPAC ss1626347685 Apr 01, 2015 (144)
37 EVA_UK10K_TWINSUK ss1669341718 Apr 01, 2015 (144)
38 EVA_SVP ss1713247375 Apr 01, 2015 (144)
39 ILLUMINA ss1752014211 Sep 08, 2015 (146)
40 WEILL_CORNELL_DGM ss1931752215 Feb 12, 2016 (147)
41 JJLAB ss2026623230 Sep 14, 2016 (149)
42 USC_VALOUEV ss2154912722 Dec 20, 2016 (150)
43 HUMAN_LONGEVITY ss2181580410 Dec 20, 2016 (150)
44 TOPMED ss2344761310 Dec 20, 2016 (150)
45 SYSTEMSBIOZJU ss2627785382 Nov 08, 2017 (151)
46 ILLUMINA ss2632823020 Nov 08, 2017 (151)
47 GRF ss2699192544 Nov 08, 2017 (151)
48 GNOMAD ss2898236676 Nov 08, 2017 (151)
49 SWEGEN ss3007872764 Nov 08, 2017 (151)
50 BIOINF_KMB_FNS_UNIBA ss3027110542 Nov 08, 2017 (151)
51 TOPMED ss3141446528 Nov 08, 2017 (151)
52 CSHL ss3349536694 Nov 08, 2017 (151)
53 ILLUMINA ss3626637136 Oct 12, 2018 (152)
54 ILLUMINA ss3630841048 Oct 12, 2018 (152)
55 ILLUMINA ss3632982235 Oct 12, 2018 (152)
56 ILLUMINA ss3633681226 Oct 12, 2018 (152)
57 ILLUMINA ss3634449099 Oct 12, 2018 (152)
58 ILLUMINA ss3635372971 Oct 12, 2018 (152)
59 ILLUMINA ss3636133754 Oct 12, 2018 (152)
60 ILLUMINA ss3637123801 Oct 12, 2018 (152)
61 ILLUMINA ss3637900887 Oct 12, 2018 (152)
62 ILLUMINA ss3640156438 Oct 12, 2018 (152)
63 ILLUMINA ss3642899850 Oct 12, 2018 (152)
64 URBANLAB ss3649578291 Oct 12, 2018 (152)
65 EGCUT_WGS ss3675278932 Jul 13, 2019 (153)
66 EVA_DECODE ss3691550055 Jul 13, 2019 (153)
67 ACPOP ss3738074797 Jul 13, 2019 (153)
68 ILLUMINA ss3744749988 Jul 13, 2019 (153)
69 EVA ss3749150359 Jul 13, 2019 (153)
70 ILLUMINA ss3772250019 Jul 13, 2019 (153)
71 KHV_HUMAN_GENOMES ss3814499537 Jul 13, 2019 (153)
72 1000Genomes NC_000011.9 - 34491680 Oct 12, 2018 (152)
73 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 34491680 Oct 12, 2018 (152)
74 Genetic variation in the Estonian population NC_000011.9 - 34491680 Oct 12, 2018 (152)
75 gnomAD - Genomes NC_000011.9 - 34491680 Jul 13, 2019 (153)
76 Northern Sweden NC_000011.9 - 34491680 Jul 13, 2019 (153)
77 TopMed NC_000011.10 - 34470133 Oct 12, 2018 (152)
78 UK 10K study - Twins NC_000011.9 - 34491680 Oct 12, 2018 (152)
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)
rs17883488 Mar 10, 2006 (126)
rs61351993 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss280954069, ss291217426, ss481728078, ss1598070327, ss1713247375, ss3642899850 NC_000011.8:34448255:G:A NC_000011.10:34470132:G:A (self)
53299761, 29610048, 21017180, 145560504, 11359662, 29610048, ss225185559, ss235515392, ss242156227, ss481759577, ss482725110, ss485658781, ss537534740, ss562493362, ss657984875, ss778620754, ss783274951, ss784228060, ss832536023, ss834078256, ss988393815, ss1077637646, ss1340792077, ss1426596651, ss1575638508, ss1626347685, ss1669341718, ss1752014211, ss1931752215, ss2026623230, ss2154912722, ss2344761310, ss2627785382, ss2632823020, ss2699192544, ss2898236676, ss3007872764, ss3349536694, ss3626637136, ss3630841048, ss3632982235, ss3633681226, ss3634449099, ss3635372971, ss3636133754, ss3637123801, ss3637900887, ss3640156438, ss3675278932, ss3738074797, ss3744749988, ss3749150359, ss3772250019 NC_000011.9:34491679:G:A NC_000011.10:34470132:G:A (self)
60681909, ss2181580410, ss3027110542, ss3141446528, ss3649578291, ss3691550055, ss3814499537 NC_000011.10:34470132:G:A NC_000011.10:34470132:G:A (self)
ss12165291 NT_009237.15:25892783:G:A NC_000011.10:34470132:G:A (self)
ss16515953 NT_009237.16:33255619:G:A NC_000011.10:34470132:G:A (self)
ss28527661, ss40009102, ss75236412, ss80778484, ss97467153, ss119576502, ss131992254, ss160932148, ss174633624, ss244311664 NT_009237.18:34431679:G:A NC_000011.10:34470132:G:A (self)
Help

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

2 citations for rs7947841
PMID Title Author Year Journal
24057136 Catalase activity, allelic variations in the catalase gene and risk of kidney complications in patients with type 1 diabetes. Mohammedi K et al. 2013 Diabetologia
27191271 NPR-C gene polymorphism is associated with increased susceptibility to coronary artery disease in Chinese Han population: a multicenter study. Hu Q et al. 2016 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.post270+ab078da