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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs3448

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:49359318 (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
T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.254432 (77093/303000, ALFA)
T=0.240580 (63679/264690, TOPMED)
T=0.246382 (34492/139994, GnomAD) (+ 22 more)
T=0.19834 (15600/78652, PAGE_STUDY)
T=0.00000 (0/28258, 14KJPN)
T=0.00000 (0/16760, 8.3KJPN)
T=0.1694 (1085/6404, 1000G_30x)
T=0.1621 (812/5008, 1000G)
T=0.2444 (1095/4480, Estonian)
T=0.2683 (1034/3854, ALSPAC)
T=0.2581 (957/3708, TWINSUK)
T=0.0003 (1/2930, KOREAN)
T=0.1468 (306/2084, HGDP_Stanford)
T=0.0000 (0/1832, Korea1K)
T=0.1994 (361/1810, HapMap)
T=0.264 (263/998, GoNL)
T=0.008 (6/792, PRJEB37584)
T=0.197 (118/600, NorthernSweden)
T=0.249 (133/534, MGP)
T=0.096 (51/532, SGDP_PRJ)
T=0.296 (64/216, Qatari)
T=0.009 (2/212, Vietnamese)
T=0.36 (30/84, Ancient Sardinia)
T=0.13 (7/54, Siberian)
T=0.33 (13/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RHOA : 3 Prime UTR Variant
GPX1 : 2KB Upstream Variant
Publications
14 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 308036 T=0.254633 C=0.745367
European Sub 271154 T=0.265015 C=0.734985
African Sub 9524 T=0.2760 C=0.7240
African Others Sub 372 T=0.296 C=0.704
African American Sub 9152 T=0.2752 C=0.7248
Asian Sub 3942 T=0.0020 C=0.9980
East Asian Sub 3196 T=0.0022 C=0.9978
Other Asian Sub 746 T=0.001 C=0.999
Latin American 1 Sub 1134 T=0.2513 C=0.7487
Latin American 2 Sub 7226 T=0.1466 C=0.8534
South Asian Sub 5224 T=0.0957 C=0.9043
Other Sub 9832 T=0.2131 C=0.7869


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
Allele Frequency Aggregator Total Global 303000 T=0.254432 C=0.745568
Allele Frequency Aggregator European Sub 268060 T=0.264896 C=0.735104
Allele Frequency Aggregator Other Sub 9032 T=0.2118 C=0.7882
Allele Frequency Aggregator African Sub 8382 T=0.2768 C=0.7232
Allele Frequency Aggregator Latin American 2 Sub 7226 T=0.1466 C=0.8534
Allele Frequency Aggregator South Asian Sub 5224 T=0.0957 C=0.9043
Allele Frequency Aggregator Asian Sub 3942 T=0.0020 C=0.9980
Allele Frequency Aggregator Latin American 1 Sub 1134 T=0.2513 C=0.7487
TopMed Global Study-wide 264690 T=0.240580 C=0.759420
gnomAD - Genomes Global Study-wide 139994 T=0.246382 C=0.753618
gnomAD - Genomes European Sub 75852 T=0.25604 C=0.74396
gnomAD - Genomes African Sub 41920 T=0.26951 C=0.73049
gnomAD - Genomes American Sub 13614 T=0.19157 C=0.80843
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.1922 C=0.8078
gnomAD - Genomes East Asian Sub 3130 T=0.0086 C=0.9914
gnomAD - Genomes Other Sub 2154 T=0.2317 C=0.7683
The PAGE Study Global Study-wide 78652 T=0.19834 C=0.80166
The PAGE Study AfricanAmerican Sub 32496 T=0.26483 C=0.73517
The PAGE Study Mexican Sub 10800 T=0.13306 C=0.86694
The PAGE Study Asian Sub 8312 T=0.0038 C=0.9962
The PAGE Study PuertoRican Sub 7912 T=0.2642 C=0.7358
The PAGE Study NativeHawaiian Sub 4530 T=0.0735 C=0.9265
The PAGE Study Cuban Sub 4228 T=0.2580 C=0.7420
The PAGE Study Dominican Sub 3828 T=0.2534 C=0.7466
The PAGE Study CentralAmerican Sub 2450 T=0.1612 C=0.8388
The PAGE Study SouthAmerican Sub 1980 T=0.1576 C=0.8424
The PAGE Study NativeAmerican Sub 1260 T=0.2151 C=0.7849
The PAGE Study SouthAsian Sub 856 T=0.074 C=0.926
14KJPN JAPANESE Study-wide 28258 T=0.00000 C=1.00000
8.3KJPN JAPANESE Study-wide 16760 T=0.00000 C=1.00000
1000Genomes_30x Global Study-wide 6404 T=0.1694 C=0.8306
1000Genomes_30x African Sub 1786 T=0.2828 C=0.7172
1000Genomes_30x Europe Sub 1266 T=0.2409 C=0.7591
1000Genomes_30x South Asian Sub 1202 T=0.0657 C=0.9343
1000Genomes_30x East Asian Sub 1170 T=0.0120 C=0.9880
1000Genomes_30x American Sub 980 T=0.186 C=0.814
1000Genomes Global Study-wide 5008 T=0.1621 C=0.8379
1000Genomes African Sub 1322 T=0.2814 C=0.7186
1000Genomes East Asian Sub 1008 T=0.0129 C=0.9871
1000Genomes Europe Sub 1006 T=0.2316 C=0.7684
1000Genomes South Asian Sub 978 T=0.057 C=0.943
1000Genomes American Sub 694 T=0.199 C=0.801
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.2444 C=0.7556
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.2683 C=0.7317
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.2581 C=0.7419
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.0003 C=0.9997, G=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.1468 C=0.8532
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.015 C=0.985
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.109 C=0.891
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.277 C=0.723
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.259 C=0.741
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.302 C=0.698
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.005 C=0.995
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.00 C=1.00
Korean Genome Project KOREAN Study-wide 1832 T=0.0000 C=1.0000
HapMap Global Study-wide 1810 T=0.1994 C=0.8006
HapMap American Sub 770 T=0.130 C=0.870
HapMap African Sub 692 T=0.319 C=0.681
HapMap Europe Sub 176 T=0.222 C=0.778
HapMap Asian Sub 172 T=0.006 C=0.994
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.264 C=0.736
CNV burdens in cranial meningiomas Global Study-wide 792 T=0.008 C=0.992
CNV burdens in cranial meningiomas CRM Sub 792 T=0.008 C=0.992
Northern Sweden ACPOP Study-wide 600 T=0.197 C=0.803
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.249 C=0.751
SGDP_PRJ Global Study-wide 532 T=0.096 C=0.904
Qatari Global Study-wide 216 T=0.296 C=0.704
A Vietnamese Genetic Variation Database Global Study-wide 212 T=0.009 C=0.991
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 84 T=0.36 C=0.64
Siberian Global Study-wide 54 T=0.13 C=0.87
The Danish reference pan genome Danish Study-wide 40 T=0.33 C=0.68
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.49359318T>C
GRCh38.p14 chr 3 NC_000003.12:g.49359318T>G
GRCh37.p13 chr 3 NC_000003.11:g.49396751T>C
GRCh37.p13 chr 3 NC_000003.11:g.49396751T>G
RHOA RefSeqGene (LRG_1085) NG_051308.1:g.57780A>G
RHOA RefSeqGene (LRG_1085) NG_051308.1:g.57780A>C
GPX1 RefSeqGene NG_012264.1:g.4041A>G
GPX1 RefSeqGene NG_012264.1:g.4041A>C
Gene: RHOA, ras homolog family member A (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RHOA transcript variant 1 NM_001664.4:c.*891= N/A 3 Prime UTR Variant
RHOA transcript variant 7 NM_001313947.2:c.*1079= N/A 3 Prime UTR Variant
RHOA transcript variant 4 NM_001313944.2:c.*891= N/A 3 Prime UTR Variant
RHOA transcript variant 6 NM_001313946.2:c.*891= N/A 3 Prime UTR Variant
RHOA transcript variant 3 NM_001313943.2:c.*1048= N/A 3 Prime UTR Variant
RHOA transcript variant 5 NM_001313945.2:c.*891= N/A 3 Prime UTR Variant
RHOA transcript variant 2 NM_001313941.2:c.*891= N/A 3 Prime UTR Variant
Gene: GPX1, glutathione peroxidase 1 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
GPX1 transcript variant 1 NM_000581.4:c. N/A Upstream Transcript Variant
GPX1 transcript variant 5 NM_001329455.2:c. N/A Upstream Transcript Variant
GPX1 transcript variant 3 NM_001329502.2:c. N/A Upstream Transcript Variant
GPX1 transcript variant 4 NM_001329503.2:c. N/A Upstream Transcript Variant
GPX1 transcript variant 2 NM_201397.3:c. N/A Upstream Transcript 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 T= C G
GRCh38.p14 chr 3 NC_000003.12:g.49359318= NC_000003.12:g.49359318T>C NC_000003.12:g.49359318T>G
GRCh37.p13 chr 3 NC_000003.11:g.49396751= NC_000003.11:g.49396751T>C NC_000003.11:g.49396751T>G
RHOA RefSeqGene (LRG_1085) NG_051308.1:g.57780= NG_051308.1:g.57780A>G NG_051308.1:g.57780A>C
RHOA transcript variant 1 NM_001664.4:c.*891= NM_001664.4:c.*891A>G NM_001664.4:c.*891A>C
RHOA transcript variant 1 NM_001664.3:c.*891= NM_001664.3:c.*891A>G NM_001664.3:c.*891A>C
RHOA transcript NM_001664.2:c.*891= NM_001664.2:c.*891A>G NM_001664.2:c.*891A>C
RHOA transcript variant 3 NM_001313943.2:c.*1048= NM_001313943.2:c.*1048A>G NM_001313943.2:c.*1048A>C
RHOA transcript variant 3 NM_001313943.1:c.*1048= NM_001313943.1:c.*1048A>G NM_001313943.1:c.*1048A>C
RHOA transcript variant 2 NM_001313941.2:c.*891= NM_001313941.2:c.*891A>G NM_001313941.2:c.*891A>C
RHOA transcript variant 2 NM_001313941.1:c.*891= NM_001313941.1:c.*891A>G NM_001313941.1:c.*891A>C
RHOA transcript variant 4 NM_001313944.2:c.*891= NM_001313944.2:c.*891A>G NM_001313944.2:c.*891A>C
RHOA transcript variant 4 NM_001313944.1:c.*891= NM_001313944.1:c.*891A>G NM_001313944.1:c.*891A>C
RHOA transcript variant 7 NM_001313947.2:c.*1079= NM_001313947.2:c.*1079A>G NM_001313947.2:c.*1079A>C
RHOA transcript variant 7 NM_001313947.1:c.*1079= NM_001313947.1:c.*1079A>G NM_001313947.1:c.*1079A>C
RHOA transcript variant 5 NM_001313945.2:c.*891= NM_001313945.2:c.*891A>G NM_001313945.2:c.*891A>C
RHOA transcript variant 5 NM_001313945.1:c.*891= NM_001313945.1:c.*891A>G NM_001313945.1:c.*891A>C
RHOA transcript variant 6 NM_001313946.2:c.*891= NM_001313946.2:c.*891A>G NM_001313946.2:c.*891A>C
RHOA transcript variant 6 NM_001313946.1:c.*891= NM_001313946.1:c.*891A>G NM_001313946.1:c.*891A>C
GPX1 RefSeqGene NG_012264.1:g.4041= NG_012264.1:g.4041A>G NG_012264.1:g.4041A>C
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#.

161 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 WIAF ss3483 Sep 19, 2000 (36)
2 LEE ss1525567 Oct 05, 2000 (92)
3 LEE ss4416161 May 29, 2002 (106)
4 SNP500CANCER ss5586549 Mar 31, 2003 (113)
5 BCM_SSAHASNP ss10063656 Jul 11, 2003 (116)
6 EGP_SNPS ss12568565 Aug 26, 2003 (117)
7 BCM_SSAHASNP ss14215553 Dec 05, 2003 (119)
8 CGAP-GAI ss16254957 Feb 27, 2004 (120)
9 CSHL-HAPMAP ss16971194 Feb 27, 2004 (120)
10 PERLEGEN ss24669657 Sep 20, 2004 (123)
11 SI_EXO ss52077127 Oct 13, 2006 (127)
12 ILLUMINA ss66840025 Dec 03, 2006 (127)
13 EGP_SNPS ss66860625 Dec 03, 2006 (127)
14 ILLUMINA ss67295216 Dec 03, 2006 (127)
15 ILLUMINA ss67699395 Dec 03, 2006 (127)
16 ILLUMINA ss70773832 May 25, 2008 (130)
17 ILLUMINA ss71349553 May 16, 2007 (127)
18 ILLUMINA ss75900011 Dec 06, 2007 (129)
19 HGSV ss78948400 Dec 06, 2007 (129)
20 ILLUMINA ss79161687 Dec 15, 2007 (130)
21 HGSV ss82849345 Dec 15, 2007 (130)
22 HGSV ss83162970 Dec 15, 2007 (130)
23 KRIBB_YJKIM ss83345928 Dec 15, 2007 (130)
24 BCMHGSC_JDW ss92082338 Mar 24, 2008 (129)
25 HUMANGENOME_JCVI ss99091706 Feb 06, 2009 (130)
26 BGI ss106258715 Feb 06, 2009 (130)
27 1000GENOMES ss111670213 Jan 25, 2009 (130)
28 ILLUMINA-UK ss117076620 Feb 14, 2009 (130)
29 ILLUMINA ss122190070 Dec 01, 2009 (131)
30 ENSEMBL ss135311582 Dec 01, 2009 (131)
31 ENSEMBL ss138852927 Dec 01, 2009 (131)
32 ILLUMINA ss154259677 Dec 01, 2009 (131)
33 GMI ss155435557 Dec 01, 2009 (131)
34 ILLUMINA ss159436187 Dec 01, 2009 (131)
35 ILLUMINA ss160621977 Dec 01, 2009 (131)
36 COMPLETE_GENOMICS ss162111403 Jul 04, 2010 (132)
37 COMPLETE_GENOMICS ss166521735 Jul 04, 2010 (132)
38 ILLUMINA ss171582654 Jul 04, 2010 (132)
39 ILLUMINA ss173589561 Jul 04, 2010 (132)
40 BUSHMAN ss202493079 Jul 04, 2010 (132)
41 BCM-HGSC-SUB ss206062044 Jul 04, 2010 (132)
42 1000GENOMES ss220126270 Jul 14, 2010 (132)
43 1000GENOMES ss231812845 Jul 14, 2010 (132)
44 1000GENOMES ss239228108 Jul 15, 2010 (132)
45 ILLUMINA ss244294929 Jul 04, 2010 (132)
46 BL ss253079293 May 09, 2011 (134)
47 GMI ss277117219 May 04, 2012 (137)
48 GMI ss284641694 Apr 25, 2013 (138)
49 PJP ss292791784 May 09, 2011 (134)
50 ILLUMINA ss480782711 May 04, 2012 (137)
51 ILLUMINA ss480798495 May 04, 2012 (137)
52 ILLUMINA ss481702515 Sep 08, 2015 (146)
53 ILLUMINA ss485186056 May 04, 2012 (137)
54 ILLUMINA ss537174485 Sep 08, 2015 (146)
55 TISHKOFF ss556599612 Apr 25, 2013 (138)
56 SSMP ss650276213 Apr 25, 2013 (138)
57 ILLUMINA ss778518967 Sep 08, 2015 (146)
58 ILLUMINA ss783039162 Sep 08, 2015 (146)
59 ILLUMINA ss783998550 Sep 08, 2015 (146)
60 ILLUMINA ss825492205 Jul 19, 2016 (147)
61 ILLUMINA ss832296884 Sep 08, 2015 (146)
62 ILLUMINA ss832947777 Jul 13, 2019 (153)
63 ILLUMINA ss833975339 Sep 08, 2015 (146)
64 EVA-GONL ss978564107 Aug 21, 2014 (142)
65 JMKIDD_LAB ss1070390830 Aug 21, 2014 (142)
66 1000GENOMES ss1303895836 Aug 21, 2014 (142)
67 DDI ss1429412985 Apr 01, 2015 (144)
68 EVA_GENOME_DK ss1579953865 Apr 01, 2015 (144)
69 EVA_DECODE ss1588034568 Apr 01, 2015 (144)
70 EVA_UK10K_ALSPAC ss1607011776 Apr 01, 2015 (144)
71 EVA_UK10K_TWINSUK ss1650005809 Apr 01, 2015 (144)
72 EVA_MGP ss1711017224 Apr 01, 2015 (144)
73 EVA_SVP ss1712573708 Apr 01, 2015 (144)
74 ILLUMINA ss1752473340 Sep 08, 2015 (146)
75 HAMMER_LAB ss1799249525 Sep 08, 2015 (146)
76 WEILL_CORNELL_DGM ss1921806699 Feb 12, 2016 (147)
77 ILLUMINA ss1946082637 Feb 12, 2016 (147)
78 ILLUMINA ss1958562056 Feb 12, 2016 (147)
79 GENOMED ss1969387023 Jul 19, 2016 (147)
80 JJLAB ss2021463104 Sep 14, 2016 (149)
81 ILLUMINA ss2094928666 Dec 20, 2016 (150)
82 ILLUMINA ss2095130915 Dec 20, 2016 (150)
83 CSHL ss2136693643 Nov 08, 2017 (151)
84 USC_VALOUEV ss2149534447 Dec 20, 2016 (150)
85 HUMAN_LONGEVITY ss2251344363 Dec 20, 2016 (150)
86 SYSTEMSBIOZJU ss2625229652 Nov 08, 2017 (151)
87 ILLUMINA ss2633946314 Nov 08, 2017 (151)
88 ILLUMINA ss2635118881 Nov 08, 2017 (151)
89 GRF ss2704907141 Nov 08, 2017 (151)
90 ILLUMINA ss2710972166 Nov 08, 2017 (151)
91 GNOMAD ss2792646928 Nov 08, 2017 (151)
92 SWEGEN ss2992271641 Nov 08, 2017 (151)
93 ILLUMINA ss3022238074 Nov 08, 2017 (151)
94 BIOINF_KMB_FNS_UNIBA ss3024493562 Nov 08, 2017 (151)
95 CSHL ss3345008049 Nov 08, 2017 (151)
96 ILLUMINA ss3625813446 Oct 12, 2018 (152)
97 ILLUMINA ss3628654111 Oct 12, 2018 (152)
98 ILLUMINA ss3631892648 Oct 12, 2018 (152)
99 ILLUMINA ss3633291379 Oct 12, 2018 (152)
100 ILLUMINA ss3634008344 Oct 12, 2018 (152)
101 ILLUMINA ss3634893853 Oct 12, 2018 (152)
102 ILLUMINA ss3635692314 Oct 12, 2018 (152)
103 ILLUMINA ss3636589540 Oct 12, 2018 (152)
104 ILLUMINA ss3637444670 Oct 12, 2018 (152)
105 ILLUMINA ss3638412935 Oct 12, 2018 (152)
106 ILLUMINA ss3639209658 Oct 12, 2018 (152)
107 ILLUMINA ss3639622746 Oct 12, 2018 (152)
108 ILLUMINA ss3640601155 Oct 12, 2018 (152)
109 ILLUMINA ss3643370077 Oct 12, 2018 (152)
110 ILLUMINA ss3644815201 Oct 12, 2018 (152)
111 OMUKHERJEE_ADBS ss3646286109 Oct 12, 2018 (152)
112 URBANLAB ss3647397977 Oct 12, 2018 (152)
113 ILLUMINA ss3652710054 Oct 12, 2018 (152)
114 ILLUMINA ss3652710055 Oct 12, 2018 (152)
115 EGCUT_WGS ss3660192266 Jul 13, 2019 (153)
116 EVA_DECODE ss3709179338 Jul 13, 2019 (153)
117 ILLUMINA ss3726014285 Jul 13, 2019 (153)
118 ACPOP ss3729865278 Jul 13, 2019 (153)
119 ILLUMINA ss3744214584 Jul 13, 2019 (153)
120 ILLUMINA ss3745193628 Jul 13, 2019 (153)
121 EVA ss3759999631 Jul 13, 2019 (153)
122 PAGE_CC ss3771030313 Jul 13, 2019 (153)
123 ILLUMINA ss3772689314 Jul 13, 2019 (153)
124 PACBIO ss3784306911 Jul 13, 2019 (153)
125 PACBIO ss3789824069 Jul 13, 2019 (153)
126 PACBIO ss3794698004 Jul 13, 2019 (153)
127 KHV_HUMAN_GENOMES ss3803140767 Jul 13, 2019 (153)
128 EVA ss3825633004 Apr 25, 2020 (154)
129 EVA ss3827797689 Apr 25, 2020 (154)
130 EVA ss3837320821 Apr 25, 2020 (154)
131 EVA ss3842746082 Apr 25, 2020 (154)
132 HGDP ss3847706733 Apr 25, 2020 (154)
133 SGDP_PRJ ss3855792830 Apr 25, 2020 (154)
134 KRGDB ss3901634156 Apr 25, 2020 (154)
135 KOGIC ss3951205631 Apr 25, 2020 (154)
136 FSA-LAB ss3984250121 Apr 26, 2021 (155)
137 FSA-LAB ss3984250122 Apr 26, 2021 (155)
138 EVA ss3984507331 Apr 26, 2021 (155)
139 EVA ss3984989650 Apr 26, 2021 (155)
140 EVA ss3986023092 Apr 26, 2021 (155)
141 EVA ss4017079266 Apr 26, 2021 (155)
142 TOPMED ss4563719416 Apr 26, 2021 (155)
143 TOMMO_GENOMICS ss5159033432 Apr 26, 2021 (155)
144 1000G_HIGH_COVERAGE ss5253995130 Oct 12, 2022 (156)
145 EVA ss5314854391 Oct 12, 2022 (156)
146 EVA ss5339636330 Oct 12, 2022 (156)
147 HUGCELL_USP ss5453395351 Oct 12, 2022 (156)
148 EVA ss5506984793 Oct 12, 2022 (156)
149 1000G_HIGH_COVERAGE ss5532313286 Oct 12, 2022 (156)
150 SANFORD_IMAGENETICS ss5624517666 Oct 12, 2022 (156)
151 SANFORD_IMAGENETICS ss5632081867 Oct 12, 2022 (156)
152 TOMMO_GENOMICS ss5690656813 Oct 12, 2022 (156)
153 EVA ss5799577690 Oct 12, 2022 (156)
154 YY_MCH ss5803716540 Oct 12, 2022 (156)
155 EVA ss5825719732 Oct 12, 2022 (156)
156 EVA ss5847217310 Oct 12, 2022 (156)
157 EVA ss5847964270 Oct 12, 2022 (156)
158 EVA ss5853602555 Oct 12, 2022 (156)
159 EVA ss5868727475 Oct 12, 2022 (156)
160 EVA ss5960371818 Oct 12, 2022 (156)
161 EVA ss5979655326 Oct 12, 2022 (156)
162 1000Genomes NC_000003.11 - 49396751 Oct 12, 2018 (152)
163 1000Genomes_30x NC_000003.12 - 49359318 Oct 12, 2022 (156)
164 The Avon Longitudinal Study of Parents and Children NC_000003.11 - 49396751 Oct 12, 2018 (152)
165 Genetic variation in the Estonian population NC_000003.11 - 49396751 Oct 12, 2018 (152)
166 The Danish reference pan genome NC_000003.11 - 49396751 Apr 25, 2020 (154)
167 gnomAD - Genomes NC_000003.12 - 49359318 Apr 26, 2021 (155)
168 Genome of the Netherlands Release 5 NC_000003.11 - 49396751 Apr 25, 2020 (154)
169 HGDP-CEPH-db Supplement 1 NC_000003.10 - 49371755 Apr 25, 2020 (154)
170 HapMap NC_000003.12 - 49359318 Apr 25, 2020 (154)
171 KOREAN population from KRGDB NC_000003.11 - 49396751 Apr 25, 2020 (154)
172 Korean Genome Project NC_000003.12 - 49359318 Apr 25, 2020 (154)
173 Medical Genome Project healthy controls from Spanish population NC_000003.11 - 49396751 Apr 25, 2020 (154)
174 Northern Sweden NC_000003.11 - 49396751 Jul 13, 2019 (153)
175 The PAGE Study NC_000003.12 - 49359318 Jul 13, 2019 (153)
176 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000003.11 - 49396751 Apr 26, 2021 (155)
177 CNV burdens in cranial meningiomas NC_000003.11 - 49396751 Apr 26, 2021 (155)
178 Qatari NC_000003.11 - 49396751 Apr 25, 2020 (154)
179 SGDP_PRJ NC_000003.11 - 49396751 Apr 25, 2020 (154)
180 Siberian NC_000003.11 - 49396751 Apr 25, 2020 (154)
181 8.3KJPN NC_000003.11 - 49396751 Apr 26, 2021 (155)
182 14KJPN NC_000003.12 - 49359318 Oct 12, 2022 (156)
183 TopMed NC_000003.12 - 49359318 Apr 26, 2021 (155)
184 UK 10K study - Twins NC_000003.11 - 49396751 Oct 12, 2018 (152)
185 A Vietnamese Genetic Variation Database NC_000003.11 - 49396751 Jul 13, 2019 (153)
186 ALFA NC_000003.12 - 49359318 Apr 26, 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)
rs1050691 Jan 18, 2001 (92)
rs3191033 Jul 03, 2002 (106)
rs17546086 Oct 07, 2004 (123)
rs60345648 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78948400, ss82849345, ss83162970, ss3639209658, ss3639622746 NC_000003.9:49371754:T:C NC_000003.12:49359317:T:C (self)
384625, ss92082338, ss111670213, ss117076620, ss162111403, ss166521735, ss202493079, ss206062044, ss253079293, ss277117219, ss284641694, ss292791784, ss480782711, ss825492205, ss1588034568, ss1712573708, ss2094928666, ss2136693643, ss2635118881, ss3643370077, ss3847706733 NC_000003.10:49371754:T:C NC_000003.12:49359317:T:C (self)
15080259, 8386170, 5930514, 6118804, 3679712, 8811550, 133763, 3150143, 215577, 56677, 3848629, 7809810, 2050801, 17002739, 8386170, 1823462, ss220126270, ss231812845, ss239228108, ss480798495, ss481702515, ss485186056, ss537174485, ss556599612, ss650276213, ss778518967, ss783039162, ss783998550, ss832296884, ss832947777, ss833975339, ss978564107, ss1070390830, ss1303895836, ss1429412985, ss1579953865, ss1607011776, ss1650005809, ss1711017224, ss1752473340, ss1799249525, ss1921806699, ss1946082637, ss1958562056, ss1969387023, ss2021463104, ss2095130915, ss2149534447, ss2625229652, ss2633946314, ss2704907141, ss2710972166, ss2792646928, ss2992271641, ss3022238074, ss3345008049, ss3625813446, ss3628654111, ss3631892648, ss3633291379, ss3634008344, ss3634893853, ss3635692314, ss3636589540, ss3637444670, ss3638412935, ss3640601155, ss3644815201, ss3646286109, ss3652710054, ss3652710055, ss3660192266, ss3729865278, ss3744214584, ss3745193628, ss3759999631, ss3772689314, ss3784306911, ss3789824069, ss3794698004, ss3825633004, ss3827797689, ss3837320821, ss3855792830, ss3901634156, ss3984250121, ss3984250122, ss3984507331, ss3984989650, ss3986023092, ss4017079266, ss5159033432, ss5314854391, ss5339636330, ss5506984793, ss5624517666, ss5632081867, ss5799577690, ss5825719732, ss5847217310, ss5847964270, ss5960371818, ss5979655326 NC_000003.11:49396750:T:C NC_000003.12:49359317:T:C (self)
19839221, 106997949, 2355175, 7583632, 251782, 24493917, 401096971, 11815501582, ss2251344363, ss3024493562, ss3647397977, ss3709179338, ss3726014285, ss3771030313, ss3803140767, ss3842746082, ss3951205631, ss4563719416, ss5253995130, ss5453395351, ss5532313286, ss5690656813, ss5803716540, ss5853602555, ss5868727475 NC_000003.12:49359317:T:C NC_000003.12:49359317:T:C (self)
ss10063656 NT_006014.14:511823:T:C NC_000003.12:49359317:T:C (self)
ss14215553, ss16971194 NT_022517.16:49320762:T:C NC_000003.12:49359317:T:C (self)
ss52077127 NT_022517.17:49336754:T:C NC_000003.12:49359317:T:C (self)
ss3483, ss1525567, ss4416161, ss5586549, ss12568565, ss16254957, ss24669657, ss66840025, ss66860625, ss67295216, ss67699395, ss70773832, ss71349553, ss75900011, ss79161687, ss83345928, ss99091706, ss106258715, ss122190070, ss135311582, ss138852927, ss154259677, ss155435557, ss159436187, ss160621977, ss171582654, ss173589561, ss244294929 NT_022517.18:49336750:T:C NC_000003.12:49359317:T:C (self)
8811550, ss3901634156 NC_000003.11:49396750:T:G NC_000003.12:49359317:T:G (self)
Help

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

14 citations for rs3448
PMID Title Author Year Journal
17601350 A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition. Harris SE et al. 2007 BMC genetics
19124506 Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer. Mavaddat N et al. 2009 Cancer epidemiology, biomarkers & prevention
21206424 Novel polymorphisms associated with tacrolimus trough concentrations: results from a multicenter kidney transplant consortium. Jacobson PA et al. 2011 Transplantation
21940907 Joint effects of alcohol consumption and polymorphisms in alcohol and oxidative stress metabolism genes on risk of head and neck cancer. Hakenewerth AM et al. 2011 Cancer epidemiology, biomarkers & prevention
22259188 Genetic variation in GPX1 is associated with GPX1 activity in a comprehensive analysis of genetic variations in selenoenzyme genes and their activity and oxidative stress in humans. Takata Y et al. 2012 The Journal of nutrition
22715394 Selenium, selenoenzymes, oxidative stress and risk of neoplastic progression from Barrett's esophagus: results from biomarkers and genetic variants. Takata Y et al. 2012 PloS one
22824134 Polymorphism in glutamate cysteine ligase catalytic subunit (GCLC) is associated with sulfamethoxazole-induced hypersensitivity in HIV/AIDS patients. Wang D et al. 2012 BMC medical genomics
23143801 Variation in selenoenzyme genes and prostate cancer risk and survival. Geybels MS et al. 2013 The Prostate
25315963 Oxidative stress-related genetic variants, pro- and antioxidant intake and status, and advanced prostate cancer risk. Geybels MS et al. 2015 Cancer epidemiology, biomarkers & prevention
26582562 Signatures of Evolutionary Adaptation in Quantitative Trait Loci Influencing Trace Element Homeostasis in Liver. Engelken J et al. 2016 Molecular biology and evolution
26773925 Glutathione peroxidase-1 gene (GPX1) variants, oxidative stress and risk of kidney complications in people with type 1 diabetes. Mohammedi K et al. 2016 Metabolism
27713515 The influence of single nucleotide polymorphisms on the association between dietary acrylamide intake and endometrial cancer risk. Hogervorst JG et al. 2016 Scientific reports
31231424 Genetic and Epigenetic Studies in Diabetic Kidney Disease. Gu HF et al. 2019 Frontiers in genetics
32306674 [Association between GPX1 gene polymorphisms and noise-induced hearing loss]. Li JY et al. 2020 Zhonghua lao dong wei sheng zhi ye bing za zhi = Zhonghua laodong weisheng zhiyebing zazhi = Chinese journal of industrial hygiene and occupational diseases
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