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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.

rs4728142

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:128933913 (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=0.429327 (114723/267216, ALFA)
A=0.372806 (98678/264690, TOPMED)
A=0.378325 (52967/140004, GnomAD) (+ 22 more)
A=0.30361 (23886/78674, PAGE_STUDY)
A=0.10620 (3001/28258, 14KJPN)
A=0.10783 (1807/16758, 8.3KJPN)
A=0.2951 (1890/6404, 1000G_30x)
A=0.2945 (1475/5008, 1000G)
A=0.4147 (1858/4480, Estonian)
A=0.4395 (1694/3854, ALSPAC)
A=0.4415 (1637/3708, TWINSUK)
A=0.1102 (322/2922, KOREAN)
A=0.3282 (684/2084, HGDP_Stanford)
A=0.2646 (500/1890, HapMap)
A=0.1261 (231/1832, Korea1K)
A=0.447 (446/998, GoNL)
A=0.132 (104/790, PRJEB37584)
A=0.300 (188/626, Chileans)
A=0.417 (250/600, NorthernSweden)
G=0.377 (101/268, SGDP_PRJ)
A=0.394 (85/216, Qatari)
A=0.120 (26/216, Vietnamese)
A=0.41 (22/54, Ancient Sardinia)
A=0.47 (19/40, GENOME_DK)
G=0.37 (11/30, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
54 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 267430 G=0.570620 A=0.429380 0.328602 0.187361 0.484037 11
European Sub 225150 G=0.556442 A=0.443558 0.309465 0.19658 0.493955 0
African Sub 7908 G=0.7322 A=0.2678 0.532878 0.068538 0.398584 1
African Others Sub 278 G=0.766 A=0.234 0.568345 0.035971 0.395683 1
African American Sub 7630 G=0.7309 A=0.2691 0.531586 0.069725 0.398689 0
Asian Sub 3764 G=0.8823 A=0.1177 0.776833 0.012221 0.210946 0
East Asian Sub 2396 G=0.8873 A=0.1127 0.786311 0.011686 0.202003 0
Other Asian Sub 1368 G=0.8735 A=0.1265 0.760234 0.013158 0.226608 0
Latin American 1 Sub 990 G=0.577 A=0.423 0.325253 0.171717 0.50303 0
Latin American 2 Sub 9050 G=0.5696 A=0.4304 0.334365 0.195138 0.470497 5
South Asian Sub 5060 G=0.5858 A=0.4142 0.344269 0.172727 0.483004 0
Other Sub 15508 G=0.61368 A=0.38632 0.385221 0.157854 0.456925 6


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 267216 G=0.570673 A=0.429327
Allele Frequency Aggregator European Sub 224972 G=0.556478 A=0.443522
Allele Frequency Aggregator Other Sub 15486 G=0.61410 A=0.38590
Allele Frequency Aggregator Latin American 2 Sub 9050 G=0.5696 A=0.4304
Allele Frequency Aggregator African Sub 7894 G=0.7322 A=0.2678
Allele Frequency Aggregator South Asian Sub 5060 G=0.5858 A=0.4142
Allele Frequency Aggregator Asian Sub 3764 G=0.8823 A=0.1177
Allele Frequency Aggregator Latin American 1 Sub 990 G=0.577 A=0.423
TopMed Global Study-wide 264690 G=0.627194 A=0.372806
gnomAD - Genomes Global Study-wide 140004 G=0.621675 A=0.378325
gnomAD - Genomes European Sub 75840 G=0.56514 A=0.43486
gnomAD - Genomes African Sub 41920 G=0.72228 A=0.27772
gnomAD - Genomes American Sub 13648 G=0.60126 A=0.39874
gnomAD - Genomes Ashkenazi Jewish Sub 3318 G=0.4946 A=0.5054
gnomAD - Genomes East Asian Sub 3126 G=0.8772 A=0.1228
gnomAD - Genomes Other Sub 2152 G=0.6087 A=0.3913
The PAGE Study Global Study-wide 78674 G=0.69639 A=0.30361
The PAGE Study AfricanAmerican Sub 32504 G=0.72591 A=0.27409
The PAGE Study Mexican Sub 10808 G=0.58225 A=0.41775
The PAGE Study Asian Sub 8318 G=0.8932 A=0.1068
The PAGE Study PuertoRican Sub 7916 G=0.6174 A=0.3826
The PAGE Study NativeHawaiian Sub 4532 G=0.7877 A=0.2123
The PAGE Study Cuban Sub 4230 G=0.5584 A=0.4416
The PAGE Study Dominican Sub 3826 G=0.6396 A=0.3604
The PAGE Study CentralAmerican Sub 2448 G=0.6295 A=0.3705
The PAGE Study SouthAmerican Sub 1978 G=0.6957 A=0.3043
The PAGE Study NativeAmerican Sub 1258 G=0.6033 A=0.3967
The PAGE Study SouthAsian Sub 856 G=0.617 A=0.383
14KJPN JAPANESE Study-wide 28258 G=0.89380 A=0.10620
8.3KJPN JAPANESE Study-wide 16758 G=0.89217 A=0.10783
1000Genomes_30x Global Study-wide 6404 G=0.7049 A=0.2951
1000Genomes_30x African Sub 1786 G=0.7587 A=0.2413
1000Genomes_30x Europe Sub 1266 G=0.5592 A=0.4408
1000Genomes_30x South Asian Sub 1202 G=0.6057 A=0.3943
1000Genomes_30x East Asian Sub 1170 G=0.8974 A=0.1026
1000Genomes_30x American Sub 980 G=0.687 A=0.313
1000Genomes Global Study-wide 5008 G=0.7055 A=0.2945
1000Genomes African Sub 1322 G=0.7602 A=0.2398
1000Genomes East Asian Sub 1008 G=0.8958 A=0.1042
1000Genomes Europe Sub 1006 G=0.5507 A=0.4493
1000Genomes South Asian Sub 978 G=0.605 A=0.395
1000Genomes American Sub 694 G=0.690 A=0.310
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.5853 A=0.4147
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.5605 A=0.4395
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.5585 A=0.4415
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.8898 A=0.1102
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.6718 A=0.3282
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.819 A=0.181
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.585 A=0.415
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.514 A=0.486
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.559 A=0.441
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.736 A=0.264
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.796 A=0.204
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.89 A=0.11
HapMap Global Study-wide 1890 G=0.7354 A=0.2646
HapMap American Sub 770 G=0.679 A=0.321
HapMap African Sub 692 G=0.790 A=0.210
HapMap Asian Sub 254 G=0.909 A=0.091
HapMap Europe Sub 174 G=0.511 A=0.489
Korean Genome Project KOREAN Study-wide 1832 G=0.8739 A=0.1261
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.553 A=0.447
CNV burdens in cranial meningiomas Global Study-wide 790 G=0.868 A=0.132
CNV burdens in cranial meningiomas CRM Sub 790 G=0.868 A=0.132
Chileans Chilean Study-wide 626 G=0.700 A=0.300
Northern Sweden ACPOP Study-wide 600 G=0.583 A=0.417
SGDP_PRJ Global Study-wide 268 G=0.377 A=0.623
Qatari Global Study-wide 216 G=0.606 A=0.394
A Vietnamese Genetic Variation Database Global Study-wide 216 G=0.880 A=0.120
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 54 G=0.59 A=0.41
The Danish reference pan genome Danish Study-wide 40 G=0.53 A=0.47
Siberian Global Study-wide 30 G=0.37 A=0.63
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 7 NC_000007.14:g.128933913G>A
GRCh37.p13 chr 7 NC_000007.13:g.128573967G>A
IRF5 RefSeqGene NG_012306.2:g.1883G>A
IRF5 RefSeqGene NG_012306.1:g.974G>A
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 7 NC_000007.14:g.128933913= NC_000007.14:g.128933913G>A
GRCh37.p13 chr 7 NC_000007.13:g.128573967= NC_000007.13:g.128573967G>A
IRF5 RefSeqGene NG_012306.2:g.1883= NG_012306.2:g.1883G>A
IRF5 RefSeqGene NG_012306.1:g.974= NG_012306.1:g.974G>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#.

152 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss6516684 Feb 20, 2003 (111)
2 CSHL-HAPMAP ss19698354 Feb 27, 2004 (120)
3 ABI ss44796432 Mar 13, 2006 (126)
4 PERLEGEN ss46544579 Mar 13, 2006 (126)
5 ILLUMINA ss66651833 Dec 01, 2006 (127)
6 ILLUMINA ss67365949 Dec 01, 2006 (127)
7 ILLUMINA ss67750694 Dec 01, 2006 (127)
8 PERLEGEN ss69027900 May 17, 2007 (127)
9 ILLUMINA ss70819582 May 26, 2008 (130)
10 ILLUMINA ss71400902 May 17, 2007 (127)
11 ILLUMINA ss75542047 Dec 06, 2007 (129)
12 AFFY ss76748950 Dec 06, 2007 (129)
13 ILLUMINA ss79191920 Dec 15, 2007 (130)
14 KRIBB_YJKIM ss84331623 Dec 15, 2007 (130)
15 BCMHGSC_JDW ss93764894 Mar 25, 2008 (129)
16 HUMANGENOME_JCVI ss98335554 Feb 06, 2009 (130)
17 ILLUMINA ss122367968 Dec 01, 2009 (131)
18 ENSEMBL ss142923833 Dec 01, 2009 (131)
19 ENSEMBL ss144152019 Dec 01, 2009 (131)
20 ILLUMINA ss154311536 Dec 01, 2009 (131)
21 ILLUMINA ss159488234 Dec 01, 2009 (131)
22 ILLUMINA ss160703598 Dec 01, 2009 (131)
23 COMPLETE_GENOMICS ss162710694 Jul 04, 2010 (132)
24 COMPLETE_GENOMICS ss167103509 Jul 04, 2010 (132)
25 ILLUMINA ss171884140 Jul 04, 2010 (132)
26 ILLUMINA ss173792312 Jul 04, 2010 (132)
27 BUSHMAN ss198262353 Jul 04, 2010 (132)
28 BCM-HGSC-SUB ss208379292 Jul 04, 2010 (132)
29 1000GENOMES ss212113514 Jul 14, 2010 (132)
30 1000GENOMES ss223329207 Jul 14, 2010 (132)
31 1000GENOMES ss234165456 Jul 15, 2010 (132)
32 1000GENOMES ss241079498 Jul 15, 2010 (132)
33 GMI ss279529209 May 04, 2012 (137)
34 PJP ss293964966 May 09, 2011 (134)
35 ILLUMINA ss481021057 May 04, 2012 (137)
36 ILLUMINA ss481042057 May 04, 2012 (137)
37 ILLUMINA ss482028713 Sep 08, 2015 (146)
38 ILLUMINA ss485305539 May 04, 2012 (137)
39 EXOME_CHIP ss491405630 May 04, 2012 (137)
40 ILLUMINA ss537264729 Sep 08, 2015 (146)
41 TISHKOFF ss560301508 Apr 25, 2013 (138)
42 SSMP ss654710949 Apr 25, 2013 (138)
43 ILLUMINA ss778916386 Sep 08, 2015 (146)
44 ILLUMINA ss780685288 Sep 08, 2015 (146)
45 ILLUMINA ss783098598 Sep 08, 2015 (146)
46 ILLUMINA ss783358770 Sep 08, 2015 (146)
47 ILLUMINA ss784055882 Sep 08, 2015 (146)
48 ILLUMINA ss825522438 Jul 19, 2016 (147)
49 ILLUMINA ss832357147 Sep 08, 2015 (146)
50 ILLUMINA ss832999643 Jul 13, 2019 (153)
51 ILLUMINA ss834377780 Sep 08, 2015 (146)
52 EVA-GONL ss984795259 Aug 21, 2014 (142)
53 JMKIDD_LAB ss1074979454 Aug 21, 2014 (142)
54 1000GENOMES ss1327129590 Aug 21, 2014 (142)
55 DDI ss1431278542 Apr 01, 2015 (144)
56 EVA_GENOME_DK ss1582400398 Apr 01, 2015 (144)
57 EVA_DECODE ss1594383917 Apr 01, 2015 (144)
58 EVA_UK10K_ALSPAC ss1619210473 Apr 01, 2015 (144)
59 EVA_UK10K_TWINSUK ss1662204506 Apr 01, 2015 (144)
60 EVA_SVP ss1712987119 Apr 01, 2015 (144)
61 ILLUMINA ss1752663624 Sep 08, 2015 (146)
62 ILLUMINA ss1752663625 Sep 08, 2015 (146)
63 HAMMER_LAB ss1805217783 Sep 08, 2015 (146)
64 ILLUMINA ss1917822064 Feb 12, 2016 (147)
65 WEILL_CORNELL_DGM ss1928053374 Feb 12, 2016 (147)
66 ILLUMINA ss1946220566 Feb 12, 2016 (147)
67 ILLUMINA ss1959050771 Feb 12, 2016 (147)
68 GENOMED ss1970816027 Jul 19, 2016 (147)
69 JJLAB ss2024714784 Sep 14, 2016 (149)
70 ILLUMINA ss2094832024 Dec 20, 2016 (150)
71 ILLUMINA ss2094979565 Dec 20, 2016 (150)
72 ILLUMINA ss2095203029 Dec 20, 2016 (150)
73 ILLUMINA ss2095203030 Dec 20, 2016 (150)
74 USC_VALOUEV ss2152935684 Dec 20, 2016 (150)
75 HUMAN_LONGEVITY ss2297839640 Dec 20, 2016 (150)
76 SYSTEMSBIOZJU ss2626844993 Nov 08, 2017 (151)
77 ILLUMINA ss2634659397 Nov 08, 2017 (151)
78 ILLUMINA ss2634659398 Nov 08, 2017 (151)
79 ILLUMINA ss2634659399 Nov 08, 2017 (151)
80 GRF ss2708654179 Nov 08, 2017 (151)
81 GNOMAD ss2859091730 Nov 08, 2017 (151)
82 AFFY ss2985420269 Nov 08, 2017 (151)
83 AFFY ss2986052642 Nov 08, 2017 (151)
84 SWEGEN ss3002030114 Nov 08, 2017 (151)
85 ILLUMINA ss3022778785 Nov 08, 2017 (151)
86 BIOINF_KMB_FNS_UNIBA ss3026146301 Nov 08, 2017 (151)
87 CSHL ss3347842267 Nov 08, 2017 (151)
88 ILLUMINA ss3629912836 Oct 12, 2018 (152)
89 ILLUMINA ss3629912837 Oct 12, 2018 (152)
90 ILLUMINA ss3632563700 Oct 12, 2018 (152)
91 ILLUMINA ss3633477729 Oct 12, 2018 (152)
92 ILLUMINA ss3634203376 Oct 12, 2018 (152)
93 ILLUMINA ss3635141340 Oct 12, 2018 (152)
94 ILLUMINA ss3635141341 Oct 12, 2018 (152)
95 ILLUMINA ss3635882795 Oct 12, 2018 (152)
96 ILLUMINA ss3636875863 Oct 12, 2018 (152)
97 ILLUMINA ss3637635839 Oct 12, 2018 (152)
98 ILLUMINA ss3638723523 Oct 12, 2018 (152)
99 ILLUMINA ss3639363030 Oct 12, 2018 (152)
100 ILLUMINA ss3639710387 Oct 12, 2018 (152)
101 ILLUMINA ss3640848631 Oct 12, 2018 (152)
102 ILLUMINA ss3640848632 Oct 12, 2018 (152)
103 ILLUMINA ss3643657354 Oct 12, 2018 (152)
104 ILLUMINA ss3644953720 Oct 12, 2018 (152)
105 URBANLAB ss3648751488 Oct 12, 2018 (152)
106 ILLUMINA ss3653313930 Oct 12, 2018 (152)
107 ILLUMINA ss3653313931 Oct 12, 2018 (152)
108 ILLUMINA ss3653313932 Oct 12, 2018 (152)
109 ILLUMINA ss3654181549 Oct 12, 2018 (152)
110 EGCUT_WGS ss3669786376 Jul 13, 2019 (153)
111 EVA_DECODE ss3720687072 Jul 13, 2019 (153)
112 ILLUMINA ss3726481341 Jul 13, 2019 (153)
113 ACPOP ss3735069416 Jul 13, 2019 (153)
114 ILLUMINA ss3744573195 Jul 13, 2019 (153)
115 ILLUMINA ss3745441335 Jul 13, 2019 (153)
116 ILLUMINA ss3745441336 Jul 13, 2019 (153)
117 EVA ss3767157904 Jul 13, 2019 (153)
118 PAGE_CC ss3771398276 Jul 13, 2019 (153)
119 ILLUMINA ss3772934073 Jul 13, 2019 (153)
120 ILLUMINA ss3772934074 Jul 13, 2019 (153)
121 PACBIO ss3785956778 Jul 13, 2019 (153)
122 PACBIO ss3791235896 Jul 13, 2019 (153)
123 PACBIO ss3796116046 Jul 13, 2019 (153)
124 KHV_HUMAN_GENOMES ss3810328031 Jul 13, 2019 (153)
125 EVA ss3830818605 Apr 26, 2020 (154)
126 HGDP ss3847890767 Apr 26, 2020 (154)
127 SGDP_PRJ ss3868394498 Apr 26, 2020 (154)
128 KRGDB ss3915740673 Apr 26, 2020 (154)
129 KOGIC ss3962575230 Apr 26, 2020 (154)
130 EVA ss3984595098 Apr 26, 2021 (155)
131 EVA ss3985321352 Apr 26, 2021 (155)
132 EVA ss4017358977 Apr 26, 2021 (155)
133 TOPMED ss4763711956 Apr 26, 2021 (155)
134 TOMMO_GENOMICS ss5185574506 Apr 26, 2021 (155)
135 EVA ss5237429218 Apr 26, 2021 (155)
136 1000G_HIGH_COVERAGE ss5274732285 Oct 14, 2022 (156)
137 EVA ss5315278448 Oct 14, 2022 (156)
138 EVA ss5376771571 Oct 14, 2022 (156)
139 HUGCELL_USP ss5471618676 Oct 14, 2022 (156)
140 1000G_HIGH_COVERAGE ss5563889599 Oct 14, 2022 (156)
141 SANFORD_IMAGENETICS ss5624674950 Oct 14, 2022 (156)
142 SANFORD_IMAGENETICS ss5643985170 Oct 14, 2022 (156)
143 TOMMO_GENOMICS ss5726563490 Oct 14, 2022 (156)
144 EVA ss5799736756 Oct 14, 2022 (156)
145 YY_MCH ss5809091530 Oct 14, 2022 (156)
146 EVA ss5823523120 Oct 14, 2022 (156)
147 EVA ss5847325890 Oct 14, 2022 (156)
148 EVA ss5848153688 Oct 14, 2022 (156)
149 EVA ss5856096032 Oct 14, 2022 (156)
150 EVA ss5860877175 Oct 14, 2022 (156)
151 EVA ss5973182412 Oct 14, 2022 (156)
152 EVA ss5979841130 Oct 14, 2022 (156)
153 1000Genomes NC_000007.13 - 128573967 Oct 12, 2018 (152)
154 1000Genomes_30x NC_000007.14 - 128933913 Oct 14, 2022 (156)
155 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 128573967 Oct 12, 2018 (152)
156 Chileans NC_000007.13 - 128573967 Apr 26, 2020 (154)
157 Genetic variation in the Estonian population NC_000007.13 - 128573967 Oct 12, 2018 (152)
158 The Danish reference pan genome NC_000007.13 - 128573967 Apr 26, 2020 (154)
159 gnomAD - Genomes NC_000007.14 - 128933913 Apr 26, 2021 (155)
160 Genome of the Netherlands Release 5 NC_000007.13 - 128573967 Apr 26, 2020 (154)
161 HGDP-CEPH-db Supplement 1 NC_000007.12 - 128361203 Apr 26, 2020 (154)
162 HapMap NC_000007.14 - 128933913 Apr 26, 2020 (154)
163 KOREAN population from KRGDB NC_000007.13 - 128573967 Apr 26, 2020 (154)
164 Korean Genome Project NC_000007.14 - 128933913 Apr 26, 2020 (154)
165 Northern Sweden NC_000007.13 - 128573967 Jul 13, 2019 (153)
166 The PAGE Study NC_000007.14 - 128933913 Jul 13, 2019 (153)
167 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000007.13 - 128573967 Apr 26, 2021 (155)
168 CNV burdens in cranial meningiomas NC_000007.13 - 128573967 Apr 26, 2021 (155)
169 Qatari NC_000007.13 - 128573967 Apr 26, 2020 (154)
170 SGDP_PRJ NC_000007.13 - 128573967 Apr 26, 2020 (154)
171 Siberian NC_000007.13 - 128573967 Apr 26, 2020 (154)
172 8.3KJPN NC_000007.13 - 128573967 Apr 26, 2021 (155)
173 14KJPN NC_000007.14 - 128933913 Oct 14, 2022 (156)
174 TopMed NC_000007.14 - 128933913 Apr 26, 2021 (155)
175 UK 10K study - Twins NC_000007.13 - 128573967 Oct 12, 2018 (152)
176 A Vietnamese Genetic Variation Database NC_000007.13 - 128573967 Jul 13, 2019 (153)
177 ALFA NC_000007.14 - 128933913 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)
rs61010776 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3639363030, ss3639710387 NC_000007.11:128167917:G:A NC_000007.14:128933912:G:A (self)
568659, ss93764894, ss162710694, ss167103509, ss198262353, ss208379292, ss212113514, ss279529209, ss293964966, ss481021057, ss825522438, ss1594383917, ss1712987119, ss2094979565, ss3643657354, ss3847890767 NC_000007.12:128361202:G:A NC_000007.14:128933912:G:A (self)
39173068, 21794498, 419703, 15524624, 8565336, 9725995, 22918067, 8354281, 547279, 144529, 10095304, 20411478, 5452038, 43543813, 21794498, 4855801, ss223329207, ss234165456, ss241079498, ss481042057, ss482028713, ss485305539, ss491405630, ss537264729, ss560301508, ss654710949, ss778916386, ss780685288, ss783098598, ss783358770, ss784055882, ss832357147, ss832999643, ss834377780, ss984795259, ss1074979454, ss1327129590, ss1431278542, ss1582400398, ss1619210473, ss1662204506, ss1752663624, ss1752663625, ss1805217783, ss1917822064, ss1928053374, ss1946220566, ss1959050771, ss1970816027, ss2024714784, ss2094832024, ss2095203029, ss2095203030, ss2152935684, ss2626844993, ss2634659397, ss2634659398, ss2634659399, ss2708654179, ss2859091730, ss2985420269, ss2986052642, ss3002030114, ss3022778785, ss3347842267, ss3629912836, ss3629912837, ss3632563700, ss3633477729, ss3634203376, ss3635141340, ss3635141341, ss3635882795, ss3636875863, ss3637635839, ss3638723523, ss3640848631, ss3640848632, ss3644953720, ss3653313930, ss3653313931, ss3653313932, ss3654181549, ss3669786376, ss3735069416, ss3744573195, ss3745441335, ss3745441336, ss3767157904, ss3772934073, ss3772934074, ss3785956778, ss3791235896, ss3796116046, ss3830818605, ss3868394498, ss3915740673, ss3984595098, ss3985321352, ss4017358977, ss5185574506, ss5237429218, ss5315278448, ss5376771571, ss5624674950, ss5643985170, ss5799736756, ss5823523120, ss5847325890, ss5848153688, ss5973182412, ss5979841130 NC_000007.13:128573966:G:A NC_000007.14:128933912:G:A (self)
51415534, 276607475, 3493218, 18953231, 619745, 60400594, 601089515, 8292317007, ss2297839640, ss3026146301, ss3648751488, ss3720687072, ss3726481341, ss3771398276, ss3810328031, ss3962575230, ss4763711956, ss5274732285, ss5471618676, ss5563889599, ss5726563490, ss5809091530, ss5856096032, ss5860877175 NC_000007.14:128933912:G:A NC_000007.14:128933912:G:A (self)
ss19698354 NT_007933.13:53750115:G:A NC_000007.14:128933912:G:A (self)
ss6516684, ss44796432, ss46544579, ss66651833, ss67365949, ss67750694, ss69027900, ss70819582, ss71400902, ss75542047, ss76748950, ss79191920, ss84331623, ss98335554, ss122367968, ss142923833, ss144152019, ss154311536, ss159488234, ss160703598, ss171884140, ss173792312 NT_007933.15:66606809:G:A NC_000007.14:128933912: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.

54 citations for rs4728142
PMID Title Author Year Journal
17412832 Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus. Graham RR et al. 2007 Proceedings of the National Academy of Sciences of the United States of America
18285424 Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations. Kristjansdottir G et al. 2008 Journal of medical genetics
19440200 Identification of new SLE-associated genes with a two-step Bayesian study design. Armstrong DL et al. 2009 Genes and immunity
19772658 Exon expression in lymphoblastoid cell lines from subjects with schizophrenia before and after glucose deprivation. Martin MV et al. 2009 BMC medical genomics
19854706 Association of IRF5 polymorphisms with activation of the interferon alpha pathway. Rullo OJ et al. 2010 Annals of the rheumatic diseases
20169177 Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus. Yang W et al. 2010 PLoS genetics
20383147 Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. Radstake TR et al. 2010 Nature genetics
20453842 Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. Stahl EA et al. 2010 Nature genetics
20479942 Genetic risk factors in lupus nephritis and IgA nephropathy--no support of an overlap. Vuong MT et al. 2010 PloS one
20691091 Survival dimensionality reduction (SDR): development and clinical application of an innovative approach to detect epistasis in presence of right-censored data. Beretta L et al. 2010 BMC bioinformatics
20861862 Validation of IRF5 as multiple sclerosis risk gene: putative role in interferon beta therapy and human herpes virus-6 infection. Vandenbroeck K et al. 2011 Genes and immunity
20933377 Recent findings on genetics of systemic autoimmune diseases. Delgado-Vega A et al. 2010 Current opinion in immunology
21297633 Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Anderson CA et al. 2011 Nature genetics
21437871 Genetic analyses of interferon pathway-related genes reveal multiple new loci associated with systemic lupus erythematosus. Ramos PS et al. 2011 Arthritis and rheumatism
21471993 Interferon regulatory factor 5 gene variants and pharmacological and clinical outcome of Interferonβ therapy in multiple sclerosis. Vosslamber S et al. 2011 Genes and immunity
21852963 Pervasive sharing of genetic effects in autoimmune disease. Cotsapas C et al. 2011 PLoS genetics
22162633 Activation of type I interferon pathway in systemic lupus erythematosus: association with distinct clinical phenotypes. Karageorgas TP et al. 2011 Journal of biomedicine & biotechnology
22257839 A two-marker haplotype in the IRF5 gene is associated with inflammatory bowel disease in a North American cohort. Gathungu G et al. 2012 Genes and immunity
22291604 A genome-wide association study identified AFF1 as a susceptibility locus for systemic lupus eyrthematosus in Japanese. Okada Y et al. 2012 PLoS genetics
22407130 Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up. Martin JE et al. 2012 Human molecular genetics
22440820 IRF5 polymorphism predicts prognosis in patients with systemic sclerosis. Sharif R et al. 2012 Annals of the rheumatic diseases
22544929 IRF5 risk polymorphisms contribute to interindividual variance in pattern recognition receptor-mediated cytokine secretion in human monocyte-derived cells. Hedl M et al. 2012 Journal of immunology (Baltimore, Md.
22936693 Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants. Juran BD et al. 2012 Human molecular genetics
23023776 European genetic ancestry is associated with a decreased risk of lupus nephritis. Richman IB et al. 2012 Arthritis and rheumatism
23236436 Gene-gene and gene-sex epistatic interactions of MiR146a, IRF5, IKZF1, ETS1 and IL21 in systemic lupus erythematosus. Leng RX et al. 2012 PloS one
23300620 Genotype/phenotype analyses for 53 Crohn's disease associated genetic polymorphisms. Jung C et al. 2012 PloS one
23372721 The systemic lupus erythematosus IRF5 risk haplotype is associated with systemic sclerosis. Carmona FD et al. 2013 PloS one
23941291 Identification of three new cis-regulatory IRF5 polymorphisms: in vitro studies. Alonso-Perez E et al. 2013 Arthritis research & therapy
23971939 IRF5, but not TLR4, DEFB1, or VDR, is associated with the risk of ulcerative colitis in a Han Chinese population. Li P et al. 2013 Scandinavian journal of gastroenterology
24489196
24871463 GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. Armstrong DL et al. 2014 Genes and immunity
24943672 Prediction of response to interferon therapy in multiple sclerosis. Sellebjerg F et al. 2014 Acta neurologica Scandinavica
25205108 The IRF5-TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share. Kottyan LC et al. 2015 Human molecular genetics
25332064 An Immunochip-based interrogation of scleroderma susceptibility variants identifies a novel association at DNASE1L3. Zochling J et al. 2014 Arthritis research & therapy
25337792 Genetic association study of TNFAIP3, IFIH1, IRF5 polymorphisms with polymyositis/dermatomyositis in Chinese Han population. Chen S et al. 2014 PloS one
26106387 Pathogenesis of Systemic Sclerosis. Pattanaik D et al. 2015 Frontiers in immunology
26398853 Identification of Ten Additional Susceptibility Loci for Ulcerative Colitis Through Immunochip Analysis in Koreans. Ye BD et al. 2016 Inflammatory bowel diseases
26606652 Genome-Wide Association Study in an Amerindian Ancestry Population Reveals Novel Systemic Lupus Erythematosus Risk Loci and the Role of European Admixture. Alarcón-Riquelme ME et al. 2016 Arthritis & rheumatology (Hoboken, N.J.)
26663301 Identification of a Systemic Lupus Erythematosus Risk Locus Spanning ATG16L2, FCHSD2, and P2RY2 in Koreans. Lessard CJ et al. 2016 Arthritis & rheumatology (Hoboken, N.J.)
26857698 Genome-wide DNA methylation analysis in multiple tissues in primary Sjögren's syndrome reveals regulatory effects at interferon-induced genes. Imgenberg-Kreuz J et al. 2016 Annals of the rheumatic diseases
27014188 Dissecting the Genetic Susceptibility to Graves' Disease in a Cohort of Patients of Italian Origin. Lombardi A et al. 2016 Frontiers in endocrinology
27156530 Genetic variation in IBD: progress, clues to pathogenesis and possible clinical utility. Ye BD et al. 2016 Expert review of clinical immunology
27336838 Blood and Intestine eQTLs from an Anti-TNF-Resistant Crohn's Disease Cohort Inform IBD Genetic Association Loci. Di Narzo AF et al. 2016 Clinical and translational gastroenterology
28739976 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. Wain LV et al. 2017 Hypertension (Dallas, Tex.
29070082 Sex influences eQTL effects of SLE and Sjögren's syndrome-associated genetic polymorphisms. Lindén M et al. 2017 Biology of sex differences
29375210 Genetic variants of interferon regulatory factor 5 associated with chronic hepatitis B infection. Sy BT et al. 2018 World journal of gastroenterology
29476163 Genetic predictors of systemic sclerosis-associated interstitial lung disease: a review of recent literature. Stock CJW et al. 2018 European journal of human genetics
30711878 Genetic differences between primary progressive and relapsing-remitting multiple sclerosis: The impact of immune-related genes variability. Kiselev I et al. 2019 Multiple sclerosis and related disorders
31156624 Circulating Levels of Interferon Regulatory Factor-5 Associates With Subgroups of Systemic Lupus Erythematosus Patients. Idborg H et al. 2019 Frontiers in immunology
31469255 A genome-wide association and replication study of blood pressure in Ugandan early adolescents. Lule SA et al. 2019 Molecular genetics & genomic medicine
31659207 Rare variants in non-coding regulatory regions of the genome that affect gene expression in systemic lupus erythematosus. Jones SA et al. 2019 Scientific reports
31916109 Defining genetic risk factors for scleroderma-associated interstitial lung disease : IRF5 and STAT4 gene variants are associated with scleroderma while STAT4 is protective against scleroderma-associated interstitial lung disease. Stock CJW et al. 2020 Clinical rheumatology
32464244 Candidate polymorphisms and susceptibility to inflammatory bowel disease: A systematic review and meta-analysis. Tang L et al. 2020 Gene
33666161 Interferon regulatory factor 5 gene variants rs2004640 and rs4728142 are associated with carotid intima media thickness but not with cardiovascular events in rheumatoid arthritis. Agca R et al. 2022 Clinical and experimental rheumatology
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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

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Genomic regions, transcripts, and products
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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.
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Software version is: 2.0.1.post820+afb47a3d