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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.

rs7332

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr10:79354304 (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
G=0.38431 (48257/125568, TOPMED)
G=0.3830 (11838/30910, GnomAD)
G=0.350 (1755/5008, 1000G) (+ 3 more)
G=0.456 (2043/4480, Estonian)
A=0.465 (1791/3854, ALSPAC)
A=0.483 (1790/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PPIF : 3 Prime UTR Variant
Publications
0 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 10 NC_000010.11:g.79354304G>A
GRCh37.p13 chr 10 NC_000010.10:g.81114060G>A
Gene: PPIF, peptidylprolyl isomerase F (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PPIF transcript NM_005729.3:c. N/A 3 Prime UTR Variant
PPIF transcript variant X1 XM_005269379.3:c. N/A 3 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

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=0.38431 A=0.61569
gnomAD - Genomes Global Study-wide 30910 G=0.3830 A=0.6170
gnomAD - Genomes European Sub 18458 G=0.4821 A=0.5179
gnomAD - Genomes African Sub 8726 G=0.174 A=0.826
gnomAD - Genomes East Asian Sub 1610 G=0.339 A=0.661
gnomAD - Genomes Other Sub 976 G=0.47 A=0.53
gnomAD - Genomes American Sub 838 G=0.31 A=0.69
gnomAD - Genomes Ashkenazi Jewish Sub 302 G=0.53 A=0.47
1000Genomes Global Study-wide 5008 G=0.350 A=0.650
1000Genomes African Sub 1322 G=0.126 A=0.874
1000Genomes East Asian Sub 1008 G=0.353 A=0.647
1000Genomes Europe Sub 1006 G=0.473 A=0.527
1000Genomes South Asian Sub 978 G=0.54 A=0.46
1000Genomes American Sub 694 G=0.33 A=0.67
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.456 A=0.544
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.535 A=0.465
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.517 A=0.483
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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 10 NC_000010.11:g.79354304G= NC_000010.11:g.79354304G>A
GRCh37.p13 chr 10 NC_000010.10:g.81114060G= NC_000010.10:g.81114060G>A
PPIF transcript variant X1 XM_005269379.3:c.*542G= XM_005269379.3:c.*542G>A
PPIF transcript variant X1 XM_005269379.1:c.*542G= XM_005269379.1:c.*542G>A
PPIF transcript NM_005729.3:c.*462G= NM_005729.3:c.*462G>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#.

90 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 CGAP-GAI ss9166 Sep 19, 2000 (52)
2 TSC-CSHL ss1376403 Oct 04, 2000 (86)
3 LEE ss1540445 Oct 04, 2000 (86)
4 YUSUKE ss3216903 Sep 28, 2001 (100)
5 LEE ss4427612 May 29, 2002 (106)
6 TSC-CSHL ss5189696 Oct 08, 2002 (108)
7 WI_SSAHASNP ss12108025 Jul 11, 2003 (116)
8 SC_SNP ss15466073 Feb 27, 2004 (120)
9 CGAP-GAI ss16262948 Feb 27, 2004 (120)
10 CSHL-HAPMAP ss19159132 Feb 27, 2004 (120)
11 SSAHASNP ss20672574 Apr 05, 2004 (121)
12 ILLUMINA ss65739599 Oct 15, 2006 (127)
13 ILLUMINA ss74869607 Dec 06, 2007 (129)
14 HGSV ss80174788 Dec 15, 2007 (130)
15 HUMANGENOME_JCVI ss97665340 Feb 06, 2009 (130)
16 BGI ss106689335 Feb 06, 2009 (130)
17 1000GENOMES ss109587491 Jan 24, 2009 (130)
18 1000GENOMES ss113520150 Jan 25, 2009 (130)
19 ILLUMINA-UK ss119237227 Feb 15, 2009 (130)
20 KRIBB_YJKIM ss119338049 Dec 01, 2009 (131)
21 ENSEMBL ss131966874 Dec 01, 2009 (131)
22 ENSEMBL ss137922968 Dec 01, 2009 (131)
23 GMI ss155266814 Dec 01, 2009 (131)
24 ILLUMINA ss160874145 Dec 01, 2009 (131)
25 COMPLETE_GENOMICS ss168617647 Jul 04, 2010 (132)
26 COMPLETE_GENOMICS ss170524460 Jul 04, 2010 (132)
27 ILLUMINA ss174346283 Jul 04, 2010 (132)
28 COMPLETE_GENOMICS ss174645813 Jul 04, 2010 (132)
29 BUSHMAN ss201755279 Jul 04, 2010 (132)
30 BCM-HGSC-SUB ss207273328 Jul 04, 2010 (132)
31 1000GENOMES ss224827555 Jul 14, 2010 (132)
32 1000GENOMES ss235249936 Jul 15, 2010 (132)
33 1000GENOMES ss241942903 Jul 15, 2010 (132)
34 BL ss254453195 May 09, 2011 (134)
35 GMI ss280691036 May 04, 2012 (137)
36 PJP ss290877173 May 09, 2011 (134)
37 ILLUMINA ss410948655 Sep 17, 2011 (135)
38 ILLUMINA ss481549588 May 04, 2012 (137)
39 ILLUMINA ss481578796 May 04, 2012 (137)
40 ILLUMINA ss482551525 Sep 08, 2015 (146)
41 ILLUMINA ss485569793 May 04, 2012 (137)
42 ILLUMINA ss537465576 Sep 08, 2015 (146)
43 TISHKOFF ss562076494 Apr 25, 2013 (138)
44 SSMP ss657026052 Apr 25, 2013 (138)
45 ILLUMINA ss778972861 Aug 21, 2014 (142)
46 ILLUMINA ss783230452 Aug 21, 2014 (142)
47 ILLUMINA ss784184628 Aug 21, 2014 (142)
48 ILLUMINA ss832490860 Apr 01, 2015 (144)
49 ILLUMINA ss834434930 Aug 21, 2014 (142)
50 EVA-GONL ss987687008 Aug 21, 2014 (142)
51 JMKIDD_LAB ss1077132984 Aug 21, 2014 (142)
52 1000GENOMES ss1338194961 Aug 21, 2014 (142)
53 DDI ss1426377825 Apr 01, 2015 (144)
54 EVA_GENOME_DK ss1575228473 Apr 01, 2015 (144)
55 EVA_DECODE ss1597362069 Apr 01, 2015 (144)
56 EVA_UK10K_ALSPAC ss1624969527 Apr 01, 2015 (144)
57 EVA_UK10K_TWINSUK ss1667963560 Apr 01, 2015 (144)
58 EVA_MGP ss1711262416 Apr 01, 2015 (144)
59 EVA_SVP ss1713194327 Apr 01, 2015 (144)
60 ILLUMINA ss1751982387 Sep 08, 2015 (146)
61 HAMMER_LAB ss1806474238 Sep 08, 2015 (146)
62 WEILL_CORNELL_DGM ss1931053311 Feb 12, 2016 (147)
63 GENOMED ss1967173345 Jul 19, 2016 (147)
64 JJLAB ss2026253612 Sep 14, 2016 (149)
65 USC_VALOUEV ss2154528959 Dec 20, 2016 (150)
66 HUMAN_LONGEVITY ss2176305085 Dec 20, 2016 (150)
67 TOPMED ss2339355068 Dec 20, 2016 (150)
68 SYSTEMSBIOZJU ss2627595869 Nov 08, 2017 (151)
69 ILLUMINA ss2632734991 Nov 08, 2017 (151)
70 ILLUMINA ss2635016943 Nov 08, 2017 (151)
71 GRF ss2698776433 Nov 08, 2017 (151)
72 GNOMAD ss2890903670 Nov 08, 2017 (151)
73 AFFY ss2984917268 Nov 08, 2017 (151)
74 SWEGEN ss3006785250 Nov 08, 2017 (151)
75 BIOINF_KMB_FNS_UNIBA ss3026916783 Nov 08, 2017 (151)
76 TOPMED ss3124715537 Nov 08, 2017 (151)
77 CSHL ss3349208771 Nov 08, 2017 (151)
78 ILLUMINA ss3626487265 Oct 12, 2018 (152)
79 ILLUMINA ss3630759265 Oct 12, 2018 (152)
80 ILLUMINA ss3632956230 Oct 12, 2018 (152)
81 ILLUMINA ss3633653715 Oct 12, 2018 (152)
82 ILLUMINA ss3634412566 Oct 12, 2018 (152)
83 ILLUMINA ss3635346073 Oct 12, 2018 (152)
84 ILLUMINA ss3636096017 Oct 12, 2018 (152)
85 ILLUMINA ss3637096771 Oct 12, 2018 (152)
86 ILLUMINA ss3637860854 Oct 12, 2018 (152)
87 ILLUMINA ss3640119908 Oct 12, 2018 (152)
88 ILLUMINA ss3642863529 Oct 12, 2018 (152)
89 OMUKHERJEE_ADBS ss3646411817 Oct 12, 2018 (152)
90 URBANLAB ss3649415209 Oct 12, 2018 (152)
91 1000Genomes NC_000010.10 - 81114060 Oct 12, 2018 (152)
92 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 81114060 Oct 12, 2018 (152)
93 Genetic variation in the Estonian population NC_000010.10 - 81114060 Oct 12, 2018 (152)
94 gnomAD - Genomes NC_000010.10 - 81114060 Oct 12, 2018 (152)
95 TopMed NC_000010.11 - 79354304 Oct 12, 2018 (152)
96 UK 10K study - Twins NC_000010.10 - 81114060 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)
rs3199355 Jul 03, 2002 (106)
rs60423101 May 26, 2008 (130)
rs386609330 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss80174788 NC_000010.8:80784065:G:A NC_000010.11:79354303:G:A (self)
ss109587491, ss113520150, ss119237227, ss168617647, ss170524460, ss174645813, ss201755279, ss207273328, ss254453195, ss280691036, ss290877173, ss410948655, ss481549588, ss1597362069, ss1713194327, ss2635016943, ss3642863529 NC_000010.9:80784065:G:A NC_000010.11:79354303:G:A (self)
50610417, 28096314, 19942441, 24605191, 28096314, ss224827555, ss235249936, ss241942903, ss481578796, ss482551525, ss485569793, ss537465576, ss562076494, ss657026052, ss778972861, ss783230452, ss784184628, ss832490860, ss834434930, ss987687008, ss1077132984, ss1338194961, ss1426377825, ss1575228473, ss1624969527, ss1667963560, ss1711262416, ss1751982387, ss1806474238, ss1931053311, ss1967173345, ss2026253612, ss2154528959, ss2339355068, ss2627595869, ss2632734991, ss2698776433, ss2890903670, ss2984917268, ss3006785250, ss3349208771, ss3626487265, ss3630759265, ss3632956230, ss3633653715, ss3634412566, ss3635346073, ss3636096017, ss3637096771, ss3637860854, ss3640119908, ss3646411817 NC_000010.10:81114059:G:A NC_000010.11:79354303:G:A (self)
46800659, ss2176305085, ss3026916783, ss3124715537, ss3649415209 NC_000010.11:79354303:G:A NC_000010.11:79354303:G:A (self)
ss12108025 NT_008583.15:29665231:G:A NC_000010.11:79354303:G:A (self)
ss15466073, ss19159132, ss20672574 NT_008583.16:29665214:G:A NC_000010.11:79354303:G:A (self)
ss9166, ss1376403, ss1540445, ss3216903, ss4427612, ss5189696, ss16262948, ss65739599, ss74869607, ss97665340, ss106689335, ss119338049, ss131966874, ss137922968, ss155266814, ss160874145, ss174346283 NT_030059.13:31918523:G:A NC_000010.11:79354303: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.

No publications for rs7332

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.post104+4a6ee9c