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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.

rs4135304

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:12353102 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.136431 (36112/264690, TOPMED)
A=0.129358 (18122/140092, GnomAD)
A=0.04539 (2272/50054, ALFA) (+ 13 more)
A=0.1441 (923/6404, 1000G_30x)
A=0.1352 (677/5008, 1000G)
A=0.0002 (1/4480, Estonian)
A=0.0021 (8/3854, ALSPAC)
A=0.0011 (4/3708, TWINSUK)
A=0.0600 (125/2084, HGDP_Stanford)
A=0.2532 (278/1098, HapMap)
A=0.002 (2/998, GoNL)
A=0.006 (4/626, Chileans)
A=0.056 (12/216, Qatari)
A=0.21 (20/94, PharmGKB)
G=0.36 (16/44, SGDP_PRJ)
A=0.00 (0/38, Ancient Sardinia)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PPARG : Intron Variant
Publications
0 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 50054 G=0.95461 A=0.04539
European Sub 36506 G=0.99825 A=0.00175
African Sub 4976 G=0.5951 A=0.4049
African Others Sub 178 G=0.489 A=0.511
African American Sub 4798 G=0.5990 A=0.4010
Asian Sub 230 G=1.000 A=0.000
East Asian Sub 156 G=1.000 A=0.000
Other Asian Sub 74 G=1.00 A=0.00
Latin American 1 Sub 306 G=0.908 A=0.092
Latin American 2 Sub 1322 G=0.9758 A=0.0242
South Asian Sub 4966 G=0.9992 A=0.0008
Other Sub 1748 G=0.9262 A=0.0738


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=0.863569 A=0.136431
gnomAD - Genomes Global Study-wide 140092 G=0.870642 A=0.129358
gnomAD - Genomes European Sub 75914 G=0.99827 A=0.00173
gnomAD - Genomes African Sub 41920 G=0.59237 A=0.40763
gnomAD - Genomes American Sub 13652 G=0.95063 A=0.04937
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=0.9964 A=0.0036
gnomAD - Genomes East Asian Sub 3134 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2152 G=0.8992 A=0.1008
Allele Frequency Aggregator Total Global 50054 G=0.95461 A=0.04539
Allele Frequency Aggregator European Sub 36506 G=0.99825 A=0.00175
Allele Frequency Aggregator African Sub 4976 G=0.5951 A=0.4049
Allele Frequency Aggregator South Asian Sub 4966 G=0.9992 A=0.0008
Allele Frequency Aggregator Other Sub 1748 G=0.9262 A=0.0738
Allele Frequency Aggregator Latin American 2 Sub 1322 G=0.9758 A=0.0242
Allele Frequency Aggregator Latin American 1 Sub 306 G=0.908 A=0.092
Allele Frequency Aggregator Asian Sub 230 G=1.000 A=0.000
1000Genomes_30x Global Study-wide 6404 G=0.8559 A=0.1441
1000Genomes_30x African Sub 1786 G=0.5073 A=0.4927
1000Genomes_30x Europe Sub 1266 G=1.0000 A=0.0000
1000Genomes_30x South Asian Sub 1202 G=1.0000 A=0.0000
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=0.956 A=0.044
1000Genomes Global Study-wide 5008 G=0.8648 A=0.1352
1000Genomes African Sub 1322 G=0.5129 A=0.4871
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=0.952 A=0.048
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9998 A=0.0002
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9979 A=0.0021
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9989 A=0.0011
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.9400 A=0.0600
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=1.000 A=0.000
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.995 A=0.005
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.977 A=0.023
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=1.000 A=0.000
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.525 A=0.475
HGDP-CEPH-db Supplement 1 America Sub 216 G=1.000 A=0.000
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=1.00 A=0.00
HapMap Global Study-wide 1098 G=0.7468 A=0.2532
HapMap African Sub 690 G=0.654 A=0.346
HapMap American Sub 318 G=0.877 A=0.123
HapMap Asian Sub 90 G=1.00 A=0.00
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.998 A=0.002
Chileans Chilean Study-wide 626 G=0.994 A=0.006
Qatari Global Study-wide 216 G=0.944 A=0.056
PharmGKB Aggregated Global Study-wide 94 G=0.79 A=0.21
PharmGKB Aggregated PA130219357 Sub 94 G=0.79 A=0.21
SGDP_PRJ Global Study-wide 44 G=0.36 A=0.64
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 38 G=1.00 A=0.00
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 3 NC_000003.12:g.12353102G>A
GRCh37.p13 chr 3 NC_000003.11:g.12394601G>A
PPARG RefSeqGene NG_011749.1:g.70253G>A
Gene: PPARG, peroxisome proliferator activated receptor gamma (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PPARG transcript variant 5 NM_001330615.4:c.-8-26602…

NM_001330615.4:c.-8-26602G>A

N/A Intron Variant
PPARG transcript variant 6 NM_001354666.3:c.-8-26602…

NM_001354666.3:c.-8-26602G>A

N/A Intron Variant
PPARG transcript variant 7 NM_001354667.3:c.-8-26602…

NM_001354667.3:c.-8-26602G>A

N/A Intron Variant
PPARG transcript variant 8 NM_001354668.2:c.82+1428G…

NM_001354668.2:c.82+1428G>A

N/A Intron Variant
PPARG transcript variant 9 NM_001354669.2:c.-435-266…

NM_001354669.2:c.-435-26602G>A

N/A Intron Variant
PPARG transcript variant 10 NM_001354670.2:c.-2-26602…

NM_001354670.2:c.-2-26602G>A

N/A Intron Variant
PPARG transcript variant 11 NM_001374261.3:c.-8-26602…

NM_001374261.3:c.-8-26602G>A

N/A Intron Variant
PPARG transcript variant 12 NM_001374262.3:c.-9+8208G…

NM_001374262.3:c.-9+8208G>A

N/A Intron Variant
PPARG transcript variant 13 NM_001374263.2:c.-8-26602…

NM_001374263.2:c.-8-26602G>A

N/A Intron Variant
PPARG transcript variant 14 NM_001374264.2:c.-8-26602…

NM_001374264.2:c.-8-26602G>A

N/A Intron Variant
PPARG transcript variant 15 NM_001374265.1:c.82+1428G…

NM_001374265.1:c.82+1428G>A

N/A Intron Variant
PPARG transcript variant 16 NM_001374266.1:c.-2-26602…

NM_001374266.1:c.-2-26602G>A

N/A Intron Variant
PPARG transcript variant 4 NM_005037.7:c.-8-26602G>A N/A Intron Variant
PPARG transcript variant 2 NM_015869.5:c.82+1428G>A N/A Intron Variant
PPARG transcript variant 3 NM_138711.6:c.-8-26602G>A N/A Intron Variant
PPARG transcript variant 1 NM_138712.5:c.-8-26602G>A 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

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
GRCh38.p14 chr 3 NC_000003.12:g.12353102= NC_000003.12:g.12353102G>A
GRCh37.p13 chr 3 NC_000003.11:g.12394601= NC_000003.11:g.12394601G>A
PPARG RefSeqGene NG_011749.1:g.70253= NG_011749.1:g.70253G>A
PPARG transcript variant 5 NM_001330615.4:c.-8-26602= NM_001330615.4:c.-8-26602G>A
PPARG transcript variant 6 NM_001354666.3:c.-8-26602= NM_001354666.3:c.-8-26602G>A
PPARG transcript variant 7 NM_001354667.3:c.-8-26602= NM_001354667.3:c.-8-26602G>A
PPARG transcript variant 8 NM_001354668.2:c.82+1428= NM_001354668.2:c.82+1428G>A
PPARG transcript variant 9 NM_001354669.2:c.-435-26602= NM_001354669.2:c.-435-26602G>A
PPARG transcript variant 10 NM_001354670.2:c.-2-26602= NM_001354670.2:c.-2-26602G>A
PPARG transcript variant 11 NM_001374261.3:c.-8-26602= NM_001374261.3:c.-8-26602G>A
PPARG transcript variant 12 NM_001374262.3:c.-9+8208= NM_001374262.3:c.-9+8208G>A
PPARG transcript variant 13 NM_001374263.2:c.-8-26602= NM_001374263.2:c.-8-26602G>A
PPARG transcript variant 14 NM_001374264.2:c.-8-26602= NM_001374264.2:c.-8-26602G>A
PPARG transcript variant 15 NM_001374265.1:c.82+1428= NM_001374265.1:c.82+1428G>A
PPARG transcript variant 16 NM_001374266.1:c.-2-26602= NM_001374266.1:c.-2-26602G>A
PPARG transcript variant 4 NM_005037.5:c.-2-26602= NM_005037.5:c.-2-26602G>A
PPARG transcript variant 4 NM_005037.7:c.-8-26602= NM_005037.7:c.-8-26602G>A
PPARG transcript variant 2 NM_015869.4:c.82+1428= NM_015869.4:c.82+1428G>A
PPARG transcript variant 2 NM_015869.5:c.82+1428= NM_015869.5:c.82+1428G>A
PPARG transcript variant 3 NM_138711.3:c.-2-26602= NM_138711.3:c.-2-26602G>A
PPARG transcript variant 3 NM_138711.6:c.-8-26602= NM_138711.6:c.-8-26602G>A
PPARG transcript variant 1 NM_138712.3:c.-2-26602= NM_138712.3:c.-2-26602G>A
PPARG transcript variant 1 NM_138712.5:c.-8-26602= NM_138712.5:c.-8-26602G>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#.

62 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 PGA-UW-FHCRC ss5587635 Oct 10, 2002 (108)
2 BCM_SSAHASNP ss10017441 Jul 11, 2003 (116)
3 SNP500CANCER ss12675597 Nov 17, 2003 (118)
4 BCM_SSAHASNP ss14223367 Dec 05, 2003 (119)
5 PARC ss23143928 Sep 20, 2004 (126)
6 PERLEGEN ss23242105 Sep 20, 2004 (123)
7 PGA-UW-FHCRC ss28447558 Sep 20, 2004 (123)
8 PGA-UW-FHCRC ss52088422 Oct 13, 2006 (127)
9 AFFY ss66009618 Nov 29, 2006 (127)
10 AFFY ss66351789 Nov 29, 2006 (127)
11 ILLUMINA ss67315479 Nov 29, 2006 (127)
12 ILLUMINA ss67721812 Nov 29, 2006 (127)
13 ILLUMINA ss68225437 Dec 12, 2006 (127)
14 PHARMGKB_PARC ss69364888 May 16, 2007 (127)
15 ILLUMINA ss70794091 May 25, 2008 (130)
16 ILLUMINA ss71371948 May 16, 2007 (127)
17 ILLUMINA ss75920813 Dec 07, 2007 (129)
18 AFFY ss76064087 Dec 07, 2007 (129)
19 KRIBB_YJKIM ss84229057 Dec 15, 2007 (130)
20 HGSV ss85736009 Dec 15, 2007 (130)
21 ILLUMINA-UK ss116978444 Feb 14, 2009 (130)
22 ILLUMINA ss154282759 Dec 01, 2009 (131)
23 ILLUMINA ss159459674 Dec 01, 2009 (131)
24 AFFY ss172373234 Jul 04, 2010 (132)
25 ILLUMINA ss173689821 Jul 04, 2010 (132)
26 BUSHMAN ss202146979 Jul 04, 2010 (132)
27 1000GENOMES ss219984704 Jul 14, 2010 (132)
28 ILLUMINA ss537215900 Sep 08, 2015 (146)
29 TISHKOFF ss556430990 Apr 25, 2013 (138)
30 ILLUMINA ss832971180 Jul 13, 2019 (153)
31 EVA-GONL ss978280031 Aug 21, 2014 (142)
32 JMKIDD_LAB ss1070181078 Aug 21, 2014 (142)
33 1000GENOMES ss1302833514 Aug 21, 2014 (142)
34 EVA_DECODE ss1587741470 Apr 01, 2015 (144)
35 EVA_UK10K_ALSPAC ss1606431046 Apr 01, 2015 (144)
36 EVA_UK10K_TWINSUK ss1649425079 Apr 01, 2015 (144)
37 HAMMER_LAB ss1798870674 Sep 08, 2015 (146)
38 WEILL_CORNELL_DGM ss1921532596 Feb 12, 2016 (147)
39 HUMAN_LONGEVITY ss2249137245 Dec 20, 2016 (150)
40 GNOMAD ss2789618354 Nov 08, 2017 (151)
41 ILLUMINA ss3628592068 Oct 11, 2018 (152)
42 ILLUMINA ss3638397632 Oct 11, 2018 (152)
43 ILLUMINA ss3639202589 Oct 11, 2018 (152)
44 ILLUMINA ss3639902463 Oct 11, 2018 (152)
45 ILLUMINA ss3643355926 Oct 11, 2018 (152)
46 ILLUMINA ss3643949556 Oct 11, 2018 (152)
47 EGCUT_WGS ss3659742059 Jul 13, 2019 (153)
48 EVA_DECODE ss3708652028 Jul 13, 2019 (153)
49 KHV_HUMAN_GENOMES ss3802820223 Jul 13, 2019 (153)
50 HGDP ss3847698189 Apr 25, 2020 (154)
51 SGDP_PRJ ss3855242990 Apr 25, 2020 (154)
52 EVA ss3984973519 Apr 27, 2021 (155)
53 EVA ss4017065360 Apr 27, 2021 (155)
54 TOPMED ss4554466068 Apr 27, 2021 (155)
55 1000G_HIGH_COVERAGE ss5253075196 Oct 13, 2022 (156)
56 EVA ss5337941363 Oct 13, 2022 (156)
57 HUGCELL_USP ss5452573434 Oct 13, 2022 (156)
58 EVA ss5506887440 Oct 13, 2022 (156)
59 1000G_HIGH_COVERAGE ss5530920303 Oct 13, 2022 (156)
60 SANFORD_IMAGENETICS ss5631557416 Oct 13, 2022 (156)
61 EVA ss5867660675 Oct 13, 2022 (156)
62 EVA ss5959817412 Oct 13, 2022 (156)
63 1000Genomes NC_000003.11 - 12394601 Oct 11, 2018 (152)
64 1000Genomes_30x NC_000003.12 - 12353102 Oct 13, 2022 (156)
65 The Avon Longitudinal Study of Parents and Children NC_000003.11 - 12394601 Oct 11, 2018 (152)
66 Chileans NC_000003.11 - 12394601 Apr 25, 2020 (154)
67 Genetic variation in the Estonian population NC_000003.11 - 12394601 Oct 11, 2018 (152)
68 gnomAD - Genomes NC_000003.12 - 12353102 Apr 27, 2021 (155)
69 Genome of the Netherlands Release 5 NC_000003.11 - 12394601 Apr 25, 2020 (154)
70 HGDP-CEPH-db Supplement 1 NC_000003.10 - 12369601 Apr 25, 2020 (154)
71 HapMap NC_000003.12 - 12353102 Apr 25, 2020 (154)
72 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000003.11 - 12394601 Apr 27, 2021 (155)
73 PharmGKB Aggregated NC_000003.12 - 12353102 Apr 25, 2020 (154)
74 Qatari NC_000003.11 - 12394601 Apr 25, 2020 (154)
75 SGDP_PRJ NC_000003.11 - 12394601 Apr 25, 2020 (154)
76 TopMed NC_000003.12 - 12353102 Apr 27, 2021 (155)
77 UK 10K study - Twins NC_000003.11 - 12394601 Oct 11, 2018 (152)
78 ALFA NC_000003.12 - 12353102 Apr 27, 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).

Associated ID History Updated (Build)
rs17241104 Mar 10, 2006 (126)
rs60054600 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss85736009, ss3639202589, ss3639902463, ss3643949556 NC_000003.9:12369600:G:A NC_000003.12:12353101:G:A (self)
376081, ss116978444, ss202146979, ss1587741470, ss3643355926, ss3847698189 NC_000003.10:12369600:G:A NC_000003.12:12353101:G:A (self)
13979488, 7749728, 277382, 5480307, 3402569, 199446, 3574526, 7259970, 7749728, ss219984704, ss537215900, ss556430990, ss832971180, ss978280031, ss1070181078, ss1302833514, ss1606431046, ss1649425079, ss1798870674, ss1921532596, ss2789618354, ss3628592068, ss3638397632, ss3659742059, ss3855242990, ss3984973519, ss4017065360, ss5337941363, ss5506887440, ss5631557416, ss5959817412 NC_000003.11:12394600:G:A NC_000003.12:12353101:G:A (self)
18446238, 99252640, 2304357, 7904, 391843623, 8983709750, ss2249137245, ss3708652028, ss3802820223, ss4554466068, ss5253075196, ss5452573434, ss5530920303, ss5867660675 NC_000003.12:12353101:G:A NC_000003.12:12353101:G:A (self)
ss10017441 NT_005927.15:12323449:G:A NC_000003.12:12353101:G:A (self)
ss14223367 NT_022517.16:12334600:G:A NC_000003.12:12353101:G:A (self)
ss5587635, ss12675597, ss23143928, ss23242105, ss28447558, ss52088422, ss66009618, ss66351789, ss67315479, ss67721812, ss68225437, ss69364888, ss70794091, ss71371948, ss75920813, ss76064087, ss84229057, ss154282759, ss159459674, ss172373234, ss173689821 NT_022517.18:12334600:G:A NC_000003.12:12353101: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 rs4135304

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.post761+d5e8e07