Name: rs13361189
Published: September 21, 2022
License: Open Access

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.

rs13361189

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:150843825 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.224364 (59387/264690, TOPMED)
C=0.125255 (18285/145982, ALFA)
C=0.207041 (28948/139818, GnomAD) (+ 22 more)
C=0.31532 (24808/78676, PAGE_STUDY)
C=0.34284 (9688/28258, 14KJPN)
C=0.34690 (5814/16760, 8.3KJPN)
C=0.3059 (1959/6404, 1000G_30x)
C=0.3033 (1519/5008, 1000G)
C=0.0563 (252/4480, Estonian)
C=0.0760 (293/3854, ALSPAC)
C=0.0688 (255/3708, TWINSUK)
C=0.3973 (1164/2930, KOREAN)
C=0.3919 (718/1832, Korea1K)
C=0.2846 (485/1704, HapMap)
C=0.1505 (171/1136, Daghestan)
C=0.076 (76/998, GoNL)
C=0.406 (319/786, PRJEB37584)
C=0.109 (68/626, Chileans)
C=0.052 (31/600, NorthernSweden)
T=0.399 (110/276, SGDP_PRJ)
C=0.259 (56/216, Qatari)
C=0.430 (92/214, Vietnamese)
C=0.29 (20/68, Ancient Sardinia)
C=0.12 (5/40, GENOME_DK)
T=0.41 (9/22, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
Publications: 55 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	146192	T=0.874713	C=0.125287
European	Sub	114734	T=0.913801	C=0.086199
African	Sub	8406	T=0.5582	C=0.4418
African Others	Sub	278	T=0.496	C=0.504
African American	Sub	8128	T=0.5603	C=0.4397
Asian	Sub	3502	T=0.5831	C=0.4169
East Asian	Sub	2214	T=0.5804	C=0.4196
Other Asian	Sub	1288	T=0.5877	C=0.4123
Latin American 1	Sub	682	T=0.764	C=0.236
Latin American 2	Sub	6192	T=0.8556	C=0.1444
South Asian	Sub	178	T=0.831	C=0.169
Other	Sub	12498	T=0.82661	C=0.17339

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	T=0.775636	C=0.224364
Allele Frequency Aggregator	Total	Global	145982	T=0.874745	C=0.125255
Allele Frequency Aggregator	European	Sub	114560	T=0.913870	C=0.086130
Allele Frequency Aggregator	Other	Sub	12476	T=0.82663	C=0.17337
Allele Frequency Aggregator	African	Sub	8392	T=0.5579	C=0.4421
Allele Frequency Aggregator	Latin American 2	Sub	6192	T=0.8556	C=0.1444
Allele Frequency Aggregator	Asian	Sub	3502	T=0.5831	C=0.4169
Allele Frequency Aggregator	Latin American 1	Sub	682	T=0.764	C=0.236
Allele Frequency Aggregator	South Asian	Sub	178	T=0.831	C=0.169
gnomAD - Genomes	Global	Study-wide	139818	T=0.792959	C=0.207041
gnomAD - Genomes	European	Sub	75834	T=0.91895	C=0.08105
gnomAD - Genomes	African	Sub	41766	T=0.56082	C=0.43918
gnomAD - Genomes	American	Sub	13636	T=0.84651	C=0.15349
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	T=0.8354	C=0.1646
gnomAD - Genomes	East Asian	Sub	3112	T=0.5604	C=0.4396
gnomAD - Genomes	Other	Sub	2146	T=0.7898	C=0.2102
The PAGE Study	Global	Study-wide	78676	T=0.68468	C=0.31532
The PAGE Study	AfricanAmerican	Sub	32504	T=0.56975	C=0.43025
The PAGE Study	Mexican	Sub	10806	T=0.85193	C=0.14807
The PAGE Study	Asian	Sub	8318	T=0.6328	C=0.3672
The PAGE Study	PuertoRican	Sub	7916	T=0.7827	C=0.2173
The PAGE Study	NativeHawaiian	Sub	4532	T=0.6869	C=0.3131
The PAGE Study	Cuban	Sub	4228	T=0.8115	C=0.1885
The PAGE Study	Dominican	Sub	3828	T=0.7025	C=0.2975
The PAGE Study	CentralAmerican	Sub	2446	T=0.8246	C=0.1754
The PAGE Study	SouthAmerican	Sub	1982	T=0.8431	C=0.1569
The PAGE Study	NativeAmerican	Sub	1260	T=0.8548	C=0.1452
The PAGE Study	SouthAsian	Sub	856	T=0.800	C=0.200
14KJPN	JAPANESE	Study-wide	28258	T=0.65716	C=0.34284
8.3KJPN	JAPANESE	Study-wide	16760	T=0.65310	C=0.34690
1000Genomes_30x	Global	Study-wide	6404	T=0.6941	C=0.3059
1000Genomes_30x	African	Sub	1786	T=0.4933	C=0.5067
1000Genomes_30x	Europe	Sub	1266	T=0.8989	C=0.1011
1000Genomes_30x	South Asian	Sub	1202	T=0.7812	C=0.2188
1000Genomes_30x	East Asian	Sub	1170	T=0.5598	C=0.4402
1000Genomes_30x	American	Sub	980	T=0.849	C=0.151
1000Genomes	Global	Study-wide	5008	T=0.6967	C=0.3033
1000Genomes	African	Sub	1322	T=0.4985	C=0.5015
1000Genomes	East Asian	Sub	1008	T=0.5665	C=0.4335
1000Genomes	Europe	Sub	1006	T=0.8956	C=0.1044
1000Genomes	South Asian	Sub	978	T=0.784	C=0.216
1000Genomes	American	Sub	694	T=0.852	C=0.148
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.9437	C=0.0563
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.9240	C=0.0760
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.9312	C=0.0688
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.6027	C=0.3973
Korean Genome Project	KOREAN	Study-wide	1832	T=0.6081	C=0.3919
HapMap	Global	Study-wide	1704	T=0.7154	C=0.2846
HapMap	African	Sub	688	T=0.596	C=0.404
HapMap	American	Sub	594	T=0.843	C=0.157
HapMap	Asian	Sub	250	T=0.628	C=0.372
HapMap	Europe	Sub	172	T=0.878	C=0.122
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	T=0.8495	C=0.1505
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	T=0.896	C=0.104
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	T=0.806	C=0.194
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	T=0.713	C=0.287
Genome-wide autozygosity in Daghestan	Europe	Sub	108	T=0.880	C=0.120
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	T=0.73	C=0.27
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=0.89	C=0.11
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.924	C=0.076
CNV burdens in cranial meningiomas	Global	Study-wide	786	T=0.594	C=0.406
CNV burdens in cranial meningiomas	CRM	Sub	786	T=0.594	C=0.406
Chileans	Chilean	Study-wide	626	T=0.891	C=0.109
Northern Sweden	ACPOP	Study-wide	600	T=0.948	C=0.052
SGDP_PRJ	Global	Study-wide	276	T=0.399	C=0.601
Qatari	Global	Study-wide	216	T=0.741	C=0.259
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.570	C=0.430
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	68	T=0.71	C=0.29
The Danish reference pan genome	Danish	Study-wide	40	T=0.88	C=0.12
Siberian	Global	Study-wide	22	T=0.41	C=0.59

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 5	NC_000005.10:g.150843825T>C
GRCh37.p13 chr 5	NC_000005.9:g.150223387T>C
IRGM RefSeqGene	NG_027809.2:g.2303T>C

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

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
GRCh38.p14 chr 5	NC_000005.10:g.150843825=	NC_000005.10:g.150843825T>C
GRCh37.p13 chr 5	NC_000005.9:g.150223387=	NC_000005.9:g.150223387T>C
IRGM RefSeqGene	NG_027809.2:g.2303=	NG_027809.2:g.2303T>C

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#.

101 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss23028436	Apr 05, 2004 (121)
2	AFFY	ss66455061	Dec 01, 2006 (127)
3	AFFY	ss76248807	Dec 08, 2007 (130)
4	KRIBB_YJKIM	ss83046126	Dec 14, 2007 (130)
5	BGI	ss104250894	Dec 01, 2009 (131)
6	1000GENOMES	ss113449217	Jan 25, 2009 (130)
7	GMI	ss156171093	Dec 01, 2009 (131)
8	ILLUMINA	ss160333148	Dec 01, 2009 (131)
9	COMPLETE_GENOMICS	ss165969543	Jul 04, 2010 (132)
10	AFFY	ss172968631	Jul 04, 2010 (132)
11	BUSHMAN	ss201024045	Jul 04, 2010 (132)
12	BCM-HGSC-SUB	ss206922605	Jul 04, 2010 (132)
13	1000GENOMES	ss222036538	Jul 14, 2010 (132)
14	1000GENOMES	ss233197669	Jul 14, 2010 (132)
15	1000GENOMES	ss240310863	Jul 15, 2010 (132)
16	ILLUMINA	ss244278825	Jul 04, 2010 (132)
17	GMI	ss278530369	May 04, 2012 (137)
18	ILLUMINA	ss410904999	Sep 17, 2011 (135)
19	ILLUMINA	ss480551220	Sep 08, 2015 (146)
20	EXOME_CHIP	ss491374182	May 04, 2012 (137)
21	SSMP	ss652698713	Apr 25, 2013 (138)
22	ILLUMINA	ss780681792	Sep 08, 2015 (146)
23	ILLUMINA	ss783355124	Sep 08, 2015 (146)
24	EVA-GONL	ss982258833	Aug 21, 2014 (142)
25	1000GENOMES	ss1317750467	Aug 21, 2014 (142)
26	HAMMER_LAB	ss1397431117	Sep 08, 2015 (146)
27	EVA_GENOME_DK	ss1581401644	Apr 01, 2015 (144)
28	EVA_DECODE	ss1591792145	Apr 01, 2015 (144)
29	EVA_UK10K_ALSPAC	ss1614299187	Apr 01, 2015 (144)
30	EVA_UK10K_TWINSUK	ss1657293220	Apr 01, 2015 (144)
31	EVA_SVP	ss1712810392	Apr 01, 2015 (144)
32	ILLUMINA	ss1752556426	Sep 08, 2015 (146)
33	HAMMER_LAB	ss1804138564	Sep 08, 2015 (146)
34	ILLUMINA	ss1917796253	Feb 12, 2016 (147)
35	WEILL_CORNELL_DGM	ss1925512859	Feb 12, 2016 (147)
36	ILLUMINA	ss1946159608	Feb 12, 2016 (147)
37	ILLUMINA	ss1958834743	Feb 12, 2016 (147)
38	JJLAB	ss2023364475	Sep 14, 2016 (149)
39	ILLUMINA	ss2094945345	Dec 20, 2016 (150)
40	ILLUMINA	ss2095165119	Dec 20, 2016 (150)
41	ILLUMINA	ss2095165120	Dec 20, 2016 (150)
42	USC_VALOUEV	ss2151523088	Dec 20, 2016 (150)
43	HUMAN_LONGEVITY	ss2279275604	Dec 20, 2016 (150)
44	SYSTEMSBIOZJU	ss2626170769	Nov 08, 2017 (151)
45	ILLUMINA	ss2634356829	Nov 08, 2017 (151)
46	ILLUMINA	ss2634356830	Nov 08, 2017 (151)
47	GRF	ss2707093025	Nov 08, 2017 (151)
48	GNOMAD	ss2832306975	Nov 08, 2017 (151)
49	AFFY	ss2985339990	Nov 08, 2017 (151)
50	AFFY	ss2985971589	Nov 08, 2017 (151)
51	SWEGEN	ss2998004891	Nov 08, 2017 (151)
52	ILLUMINA	ss3022542987	Nov 08, 2017 (151)
53	CSHL	ss3346684653	Nov 08, 2017 (151)
54	ILLUMINA	ss3629371909	Oct 12, 2018 (152)
55	ILLUMINA	ss3635029089	Oct 12, 2018 (152)
56	ILLUMINA	ss3636742072	Oct 12, 2018 (152)
57	ILLUMINA	ss3640736383	Oct 12, 2018 (152)
58	ILLUMINA	ss3644892615	Oct 12, 2018 (152)
59	ILLUMINA	ss3653046630	Oct 12, 2018 (152)
60	ILLUMINA	ss3653046631	Oct 12, 2018 (152)
61	ILLUMINA	ss3653046632	Oct 12, 2018 (152)
62	ILLUMINA	ss3654112199	Oct 12, 2018 (152)
63	EGCUT_WGS	ss3665926000	Jul 13, 2019 (153)
64	EVA_DECODE	ss3715959232	Jul 13, 2019 (153)
65	ILLUMINA	ss3726282509	Jul 13, 2019 (153)
66	ACPOP	ss3732928161	Jul 13, 2019 (153)
67	ILLUMINA	ss3744542458	Jul 13, 2019 (153)
68	ILLUMINA	ss3745329268	Jul 13, 2019 (153)
69	EVA	ss3764225433	Jul 13, 2019 (153)
70	PAGE_CC	ss3771240551	Jul 13, 2019 (153)
71	ILLUMINA	ss3772823193	Jul 13, 2019 (153)
72	PACBIO	ss3785283729	Jul 13, 2019 (153)
73	PACBIO	ss3790661098	Jul 13, 2019 (153)
74	PACBIO	ss3795538129	Jul 13, 2019 (153)
75	KHV_HUMAN_GENOMES	ss3807393616	Jul 13, 2019 (153)
76	EVA	ss3829568336	Apr 26, 2020 (154)
77	SGDP_PRJ	ss3863249265	Apr 26, 2020 (154)
78	KRGDB	ss3909927141	Apr 26, 2020 (154)
79	KOGIC	ss3957900489	Apr 26, 2020 (154)
80	EVA	ss3984556382	Apr 26, 2021 (155)
81	EVA	ss3985178475	Apr 26, 2021 (155)
82	TOPMED	ss4683383499	Apr 26, 2021 (155)
83	TOMMO_GENOMICS	ss5174747411	Apr 26, 2021 (155)
84	EVA	ss5237382034	Apr 26, 2021 (155)
85	1000G_HIGH_COVERAGE	ss5266309703	Oct 13, 2022 (156)
86	EVA	ss5315095598	Oct 13, 2022 (156)
87	EVA	ss5361821669	Oct 13, 2022 (156)
88	HUGCELL_USP	ss5464227611	Oct 13, 2022 (156)
89	EVA	ss5508256626	Oct 13, 2022 (156)
90	1000G_HIGH_COVERAGE	ss5551198288	Oct 13, 2022 (156)
91	SANFORD_IMAGENETICS	ss5624605161	Oct 13, 2022 (156)
92	SANFORD_IMAGENETICS	ss5639144798	Oct 13, 2022 (156)
93	TOMMO_GENOMICS	ss5712002440	Oct 13, 2022 (156)
94	YY_MCH	ss5806878023	Oct 13, 2022 (156)
95	EVA	ss5835821415	Oct 13, 2022 (156)
96	EVA	ss5847276937	Oct 13, 2022 (156)
97	EVA	ss5848069938	Oct 13, 2022 (156)
98	EVA	ss5855070487	Oct 13, 2022 (156)
99	EVA	ss5896865032	Oct 13, 2022 (156)
100	EVA	ss5967625701	Oct 13, 2022 (156)
101	EVA	ss5979758894	Oct 13, 2022 (156)
102	1000Genomes	NC_000005.9 - 150223387	Oct 12, 2018 (152)
103	1000Genomes_30x	NC_000005.10 - 150843825	Oct 13, 2022 (156)
104	The Avon Longitudinal Study of Parents and Children	NC_000005.9 - 150223387	Oct 12, 2018 (152)
105	Chileans	NC_000005.9 - 150223387	Apr 26, 2020 (154)
106	Genome-wide autozygosity in Daghestan	NC_000005.8 - 150203580	Apr 26, 2020 (154)
107	Genetic variation in the Estonian population	NC_000005.9 - 150223387	Oct 12, 2018 (152)
108	The Danish reference pan genome	NC_000005.9 - 150223387	Apr 26, 2020 (154)
109	gnomAD - Genomes	NC_000005.10 - 150843825	Apr 26, 2021 (155)
110	Genome of the Netherlands Release 5	NC_000005.9 - 150223387	Apr 26, 2020 (154)
111	HapMap	NC_000005.10 - 150843825	Apr 26, 2020 (154)
112	KOREAN population from KRGDB	NC_000005.9 - 150223387	Apr 26, 2020 (154)
113	Korean Genome Project	NC_000005.10 - 150843825	Apr 26, 2020 (154)
114	Northern Sweden	NC_000005.9 - 150223387	Jul 13, 2019 (153)
115	The PAGE Study	NC_000005.10 - 150843825	Jul 13, 2019 (153)
116	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000005.9 - 150223387	Apr 26, 2021 (155)
117	CNV burdens in cranial meningiomas	NC_000005.9 - 150223387	Apr 26, 2021 (155)
118	Qatari	NC_000005.9 - 150223387	Apr 26, 2020 (154)
119	SGDP_PRJ	NC_000005.9 - 150223387	Apr 26, 2020 (154)
120	Siberian	NC_000005.9 - 150223387	Apr 26, 2020 (154)
121	8.3KJPN	NC_000005.9 - 150223387	Apr 26, 2021 (155)
122	14KJPN	NC_000005.10 - 150843825	Oct 13, 2022 (156)
123	TopMed	NC_000005.10 - 150843825	Apr 26, 2021 (155)
124	UK 10K study - Twins	NC_000005.9 - 150223387	Oct 12, 2018 (152)
125	A Vietnamese Genetic Variation Database	NC_000005.9 - 150223387	Jul 13, 2019 (153)
126	ALFA	NC_000005.10 - 150843825	Apr 26, 2021 (155)

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)
rs56456031	May 24, 2008 (130)
rs57395593	Feb 26, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
405928, ss113449217, ss165969543, ss201024045, ss206922605, ss278530369, ss1397431117, ss1591792145, ss1712810392, ss2094945345	NC_000005.8:150203579:T:C	NC_000005.10:150843824:T:C	(self)
29447938, 16385728, 362185, 11664248, 7566583, 7274236, 17104535, 6213026, 404402, 105755, 7554789, 15266245, 4039442, 32716718, 16385728, 3631153, ss222036538, ss233197669, ss240310863, ss480551220, ss491374182, ss652698713, ss780681792, ss783355124, ss982258833, ss1317750467, ss1581401644, ss1614299187, ss1657293220, ss1752556426, ss1804138564, ss1917796253, ss1925512859, ss1946159608, ss1958834743, ss2023364475, ss2095165119, ss2095165120, ss2151523088, ss2626170769, ss2634356829, ss2634356830, ss2707093025, ss2832306975, ss2985339990, ss2985971589, ss2998004891, ss3022542987, ss3346684653, ss3629371909, ss3635029089, ss3636742072, ss3640736383, ss3644892615, ss3653046630, ss3653046631, ss3653046632, ss3654112199, ss3665926000, ss3732928161, ss3744542458, ss3745329268, ss3764225433, ss3772823193, ss3785283729, ss3790661098, ss3795538129, ss3829568336, ss3863249265, ss3909927141, ss3984556382, ss3985178475, ss5174747411, ss5237382034, ss5315095598, ss5361821669, ss5508256626, ss5624605161, ss5639144798, ss5835821415, ss5847276937, ss5848069938, ss5967625701, ss5979758894	NC_000005.9:150223386:T:C	NC_000005.10:150843824:T:C	(self)
38724223, 208291963, 2995264, 14278490, 462020, 45839544, 520761056, 3620645510, ss2279275604, ss3715959232, ss3726282509, ss3771240551, ss3807393616, ss3957900489, ss4683383499, ss5266309703, ss5464227611, ss5551198288, ss5712002440, ss5806878023, ss5855070487, ss5896865032	NC_000005.10:150843824:T:C	NC_000005.10:150843824:T:C	(self)
ss23028436	NT_029289.10:11386322:T:C	NC_000005.10:150843824:T:C	(self)
ss66455061, ss76248807, ss83046126, ss104250894, ss156171093, ss160333148, ss172968631, ss244278825, ss410904999	NT_029289.11:11386313:T:C	NC_000005.10:150843824:T:C	(self)

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

55 citations for rs13361189

PMID	Title	Author	Year	Journal
18438406	Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.	Fisher SA et al.	2008	Nature genetics
18580884	Confirmation of association of IRGM and NCF4 with ileal Crohn's disease in a population-based cohort.	Roberts RL et al.	2008	Genes and immunity
19140132	Unbiased estimation of odds ratios: combining genomewide association scans with replication studies.	Bowden J et al.	2009	Genetic epidemiology
19165925	Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease.	McCarroll SA et al.	2008	Nature genetics
19491842	Association of ATG16L1 and IRGM genes polymorphisms with inflammatory bowel disease: a meta-analysis approach.	Palomino-Morales RJ et al.	2009	Genes and immunity
19750224	Autophagy gene variant IRGM -261T contributes to protection from tuberculosis caused by Mycobacterium tuberculosis but not by M. africanum strains.	Intemann CD et al.	2009	PLoS pathogens
19953089	Differences in genetic background between active smokers, passive smokers, and non-smokers with Crohn's disease.	van der Heide F et al.	2010	The American journal of gastroenterology
20106866	Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease.	Prescott NJ et al.	2010	Human molecular genetics
20177049	Insufficient evidence for association of NOD2/CARD15 or other inflammatory bowel disease-associated markers on GVHD incidence or other adverse outcomes in T-replete, unrelated donor transplantation.	Nguyen Y et al.	2010	Blood
20228799	Genome-wide association identifies multiple ulcerative colitis susceptibility loci.	McGovern DP et al.	2010	Nature genetics
20395867	Is there a role for Crohn's disease-associated autophagy genes ATG16L1 and IRGM in formation of granulomas?	Wolfkamp SC et al.	2010	European journal of gastroenterology & hepatology
20886065	Molecular reclassification of Crohn's disease by cluster analysis of genetic variants.	Cleynen I et al.	2010	PloS one
21049557	NKX2-3 and IRGM variants are associated with disease susceptibility to IBD in Eastern European patients.	Meggyesi N et al.	2010	World journal of gastroenterology
21079743	Interaction of Crohn's disease susceptibility genes in an Australian paediatric cohort.	Wagner J et al.	2010	PloS one
21304977	An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians.	Juyal G et al.	2011	PloS one
21333900	The role of genetics in IBS.	Saito YA et al.	2011	Gastroenterology clinics of North America
21548950	Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study.	Peter I et al.	2011	BMC medical genetics
21730793	Influence of Crohn's disease risk alleles and smoking on disease location.	Chen H et al.	2011	Diseases of the colon and rectum
21734790	NOD2 and ATG16L1 polymorphisms affect monocyte responses in Crohn's disease.	Glubb DM et al.	2011	World journal of gastroenterology
21830272	Distinct and overlapping genetic loci in Crohn's disease and ulcerative colitis: correlations with pathogenesis.	Waterman M et al.	2011	Inflammatory bowel diseases
21936032	Digesting the genetics of inflammatory bowel disease: insights from studies of autophagy risk genes.	Kabi A et al.	2012	Inflammatory bowel diseases
21978003	Autophagy modulates the Mycobacterium tuberculosis-induced cytokine response.	Kleinnijenhuis J et al.	2011	Immunology
22065112	The JAK2 variant rs10758669 in Crohn's disease: altering the intestinal barrier as one mechanism of action.	Prager M et al.	2012	International journal of colorectal disease
22573572	Phenotype-genotype profiles in Crohn's disease predicted by genetic markers in autophagy-related genes (GOIA study II).	Durães C et al.	2013	Inflammatory bowel diseases
22713085	IRGM gene polymorphisms and risk of gastric cancer.	Burada F et al.	2012	Journal of digestive diseases
23300620	Genotype/phenotype analyses for 53 Crohn's disease associated genetic polymorphisms.	Jung C et al.	2012	PloS one
23365659	IRGM variants and susceptibility to inflammatory bowel disease in the German population.	Glas J et al.	2013	PloS one
23844243	GStream: improving SNP and CNV coverage on genome-wide association studies.	Alonso A et al.	2013	PloS one
24264476	Autophagy gene polymorphism is associated with susceptibility to leprosy by affecting inflammatory cytokines.	Yang D et al.	2014	Inflammation
24627602	ATG16L1 and NOD2 polymorphisms enhance phagocytosis in monocytes of Crohn's disease patients.	Wolfkamp SC et al.	2014	World journal of gastroenterology
24859836	Functional IRGM polymorphism is associated with language impairment in glioma and upregulates cytokine expressions.	Ge J et al.	2014	Tumour biology
24956270	Large-scale East-Asian eQTL mapping reveals novel candidate genes for LD mapping and the genomic landscape of transcriptional effects of sequence variants.	Narahara M et al.	2014	PloS one
25009628	IRGM rs13361189 polymorphism may contribute to susceptibility to Crohn's disease: A meta-analysis.	Lu Y et al.	2014	Experimental and therapeutic medicine
25191865	Association of IRGM gene mutations with inflammatory bowel disease in the Indian population.	Baskaran K et al.	2014	PloS one
25369137	A multilocus genetic study in a cohort of Italian SLE patients confirms the association with STAT4 gene and describes a new association with HCP5 gene.	Ciccacci C et al.	2014	PloS one
25664588	Autophagy in Helicobacter pylori Infection and Related Gastric Cancer.	Castaño-Rodríguez N et al.	2015	Helicobacter
25944217	Genetic Polymorphisms in Autophagy-Associated Genes in Korean Children With Early-Onset Crohn Disease.	Na SY et al.	2015	Journal of pediatric gastroenterology and nutrition
26066377	Autophagy and inflammatory bowel disease: Association between variants of the autophagy-related IRGM gene and susceptibility to Crohn's disease.	Rufini S et al.	2015	Digestive and liver disease
26993061	Accounting for selection and correlation in the analysis of two-stage genome-wide association studies.	Robertson DS et al.	2016	Biostatistics (Oxford, England)
27306066	Genetic Association Analysis Reveals Differences in the Contribution of NOD2 Variants to the Clinical Phenotypes of Orofacial Granulomatosis.	Mentzer A et al.	2016	Inflammatory bowel diseases
27417217	Variants in the autophagy-related gene IRGM confer susceptibility to non-alcoholic fatty liver disease by modulating lipophagy.	Lin YC et al.	2016	Journal of hepatology
28983640	A haplotypic variant at the IRGM locus and rs11747270 are related to the susceptibility for chronic periodontitis.	Folwaczny M et al.	2018	Inflammation research
29228965	Genetic polymorphism in ATG16L1 gene is associated with adalimumab use in inflammatory bowel disease.	Nuij VJAA et al.	2017	Journal of translational medicine
29434451	Impaired granulocyte-macrophage colony-stimulating factor bioactivity accelerates surgical recurrence in ileal Crohn's disease.	Gathungu G et al.	2018	World journal of gastroenterology
29788077	IRGM Gene Variants Modify the Relationship Between Visceral Adipose Tissue and NAFLD in Patients With Crohn's Disease.	Simon TG et al.	2018	Inflammatory bowel diseases
29992164	Polymorphisms in Autophagy-Related Gene IRGM Are Associated with Susceptibility to Autoimmune Thyroid Diseases.	Yao QM et al.	2018	BioMed research international
30335469	Crohn's disease IRGM risk alleles are associated with altered gene expression in human tissues.	Ajayi TA et al.	2019	American journal of physiology. Gastrointestinal and liver physiology
30568945	Genetic associations of inflammatory bowel disease in a South Asian population.	Niriella MA et al.	2018	World journal of clinical cases
30597691	The immunity-related GTPase M rs13361189 variant does not increase the risk for prevalent or incident steatosis; results from the Framingham Heart Study.	Simon TG et al.	2019	Liver international
31714311	Clinical and Genetic Factors Impact Time to Surgical Recurrence After Ileocolectomy for Crohn's Disease.	Kline BP et al.	2021	Annals of surgery
32045400	Clinical and Genetic Factors Associated With Complications After Crohn's Ileocolectomy.	Kline BP et al.	2020	Diseases of the colon and rectum
33147747	Pathogenic Single Nucleotide Polymorphisms on Autophagy-Related Genes.	Tamargo-Gómez I et al.	2020	International journal of molecular sciences
34407136	Differential prevalence of pathobionts and host gene polymorphisms in chronic inflammatory intestinal diseases: Crohn's disease and intestinal tuberculosis.	Khan IA et al.	2021	PloS one
35349414	Fever in systemic lupus erythematosus: associated clinical features and genetic factors.	Olivieri G et al.	2022	Clinical and experimental rheumatology
35699756	Immunity-related GTPase IRGM at the intersection of autophagy, inflammation, and tumorigenesis.	Goswami AB et al.	2022	Inflammation research

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rs13361189