Name: rs11175593
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.

rs11175593

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:40208138 (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: C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.029886 (8223/275142, ALFA)
T=0.037153 (9834/264690, TOPMED)
T=0.027666 (3878/140174, GnomAD) (+ 23 more)
T=0.05592 (4401/78698, PAGE_STUDY)
T=0.03457 (977/28258, 14KJPN)
T=0.03484 (584/16760, 8.3KJPN)
T=0.0484 (310/6404, 1000G_30x)
T=0.0497 (249/5008, 1000G)
T=0.0232 (104/4480, Estonian)
T=0.0150 (58/3854, ALSPAC)
T=0.0175 (65/3708, TWINSUK)
T=0.0493 (144/2922, KOREAN)
T=0.0573 (105/1832, Korea1K)
T=0.0456 (73/1600, HapMap)
T=0.0468 (53/1132, Daghestan)
T=0.020 (20/998, GoNL)
T=0.047 (37/792, PRJEB37584)
T=0.150 (94/626, Chileans)
T=0.015 (9/600, NorthernSweden)
T=0.102 (22/216, Qatari)
T=0.075 (16/212, Vietnamese)
C=0.44 (35/80, SGDP_PRJ)
T=0.00 (0/50, Ancient Sardinia)
T=0.03 (1/40, GENOME_DK)
C=0.5 (3/6, Siberian)
T=0.5 (3/6, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LOC105369735 : Non Coding Transcript Variant
Publications: 21 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	275358	C=0.970115	T=0.029885	0.942359	0.002128	0.055513	32
European	Sub	234602	C=0.977362	T=0.022638	0.955388	0.000665	0.043947	4
African	Sub	7588	C=0.9941	T=0.0059	0.988139	0.0	0.011861	0
African Others	Sub	274	C=0.996	T=0.004	0.992701	0.0	0.007299	0
African American	Sub	7314	C=0.9940	T=0.0060	0.987968	0.0	0.012032	0
Asian	Sub	6848	C=0.9617	T=0.0383	0.924357	0.000876	0.074766	1
East Asian	Sub	4892	C=0.9616	T=0.0384	0.924366	0.001226	0.074407	0
Other Asian	Sub	1956	C=0.9622	T=0.0378	0.924335	0.0	0.075665	1
Latin American 1	Sub	1174	C=0.9651	T=0.0349	0.931857	0.001704	0.06644	0
Latin American 2	Sub	8754	C=0.7959	T=0.2041	0.63194	0.04021	0.32785	0
South Asian	Sub	380	C=0.889	T=0.111	0.794737	0.015789	0.189474	0
Other	Sub	16012	C=0.95372	T=0.04628	0.911441	0.003997	0.084562	8

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	275142	C=0.970114	T=0.029886
Allele Frequency Aggregator	European	Sub	234422	C=0.977370	T=0.022630
Allele Frequency Aggregator	Other	Sub	15990	C=0.95366	T=0.04634
Allele Frequency Aggregator	Latin American 2	Sub	8754	C=0.7959	T=0.2041
Allele Frequency Aggregator	African	Sub	7574	C=0.9941	T=0.0059
Allele Frequency Aggregator	Asian	Sub	6848	C=0.9617	T=0.0383
Allele Frequency Aggregator	Latin American 1	Sub	1174	C=0.9651	T=0.0349
Allele Frequency Aggregator	South Asian	Sub	380	C=0.889	T=0.111
TopMed	Global	Study-wide	264690	C=0.962847	T=0.037153
gnomAD - Genomes	Global	Study-wide	140174	C=0.972334	T=0.027666
gnomAD - Genomes	European	Sub	75910	C=0.97787	T=0.02213
gnomAD - Genomes	African	Sub	42010	C=0.99314	T=0.00686
gnomAD - Genomes	American	Sub	13650	C=0.88908	T=0.11092
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=0.9471	T=0.0529
gnomAD - Genomes	East Asian	Sub	3132	C=0.9556	T=0.0444
gnomAD - Genomes	Other	Sub	2148	C=0.9623	T=0.0377
The PAGE Study	Global	Study-wide	78698	C=0.94408	T=0.05592
The PAGE Study	AfricanAmerican	Sub	32516	C=0.99394	T=0.00606
The PAGE Study	Mexican	Sub	10808	C=0.78821	T=0.21179
The PAGE Study	Asian	Sub	8316	C=0.9626	T=0.0374
The PAGE Study	PuertoRican	Sub	7918	C=0.9487	T=0.0513
The PAGE Study	NativeHawaiian	Sub	4534	C=0.9696	T=0.0304
The PAGE Study	Cuban	Sub	4230	C=0.9636	T=0.0364
The PAGE Study	Dominican	Sub	3828	C=0.9668	T=0.0332
The PAGE Study	CentralAmerican	Sub	2450	C=0.8743	T=0.1257
The PAGE Study	SouthAmerican	Sub	1982	C=0.8623	T=0.1377
The PAGE Study	NativeAmerican	Sub	1260	C=0.8984	T=0.1016
The PAGE Study	SouthAsian	Sub	856	C=0.918	T=0.082
14KJPN	JAPANESE	Study-wide	28258	C=0.96543	T=0.03457
8.3KJPN	JAPANESE	Study-wide	16760	C=0.96516	T=0.03484
1000Genomes_30x	Global	Study-wide	6404	C=0.9516	T=0.0484
1000Genomes_30x	African	Sub	1786	C=0.9978	T=0.0022
1000Genomes_30x	Europe	Sub	1266	C=0.9810	T=0.0190
1000Genomes_30x	South Asian	Sub	1202	C=0.9468	T=0.0532
1000Genomes_30x	East Asian	Sub	1170	C=0.9410	T=0.0590
1000Genomes_30x	American	Sub	980	C=0.848	T=0.152
1000Genomes	Global	Study-wide	5008	C=0.9503	T=0.0497
1000Genomes	African	Sub	1322	C=0.9970	T=0.0030
1000Genomes	East Asian	Sub	1008	C=0.9405	T=0.0595
1000Genomes	Europe	Sub	1006	C=0.9821	T=0.0179
1000Genomes	South Asian	Sub	978	C=0.941	T=0.059
1000Genomes	American	Sub	694	C=0.843	T=0.157
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9768	T=0.0232
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9850	T=0.0150
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9825	T=0.0175
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=0.9507	T=0.0493
Korean Genome Project	KOREAN	Study-wide	1832	C=0.9427	T=0.0573
HapMap	Global	Study-wide	1600	C=0.9544	T=0.0456
HapMap	American	Sub	770	C=0.926	T=0.074
HapMap	African	Sub	402	C=0.995	T=0.005
HapMap	Asian	Sub	254	C=0.969	T=0.031
HapMap	Europe	Sub	174	C=0.966	T=0.034
Genome-wide autozygosity in Daghestan	Global	Study-wide	1132	C=0.9532	T=0.0468
Genome-wide autozygosity in Daghestan	Daghestan	Sub	626	C=0.960	T=0.040
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=0.910	T=0.090
Genome-wide autozygosity in Daghestan	Central Asia	Sub	120	C=0.942	T=0.058
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.972	T=0.028
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.95	T=0.05
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=1.00	T=0.00
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.980	T=0.020
CNV burdens in cranial meningiomas	Global	Study-wide	792	C=0.953	T=0.047
CNV burdens in cranial meningiomas	CRM	Sub	792	C=0.953	T=0.047
Chileans	Chilean	Study-wide	626	C=0.850	T=0.150
Northern Sweden	ACPOP	Study-wide	600	C=0.985	T=0.015
Qatari	Global	Study-wide	216	C=0.898	T=0.102
A Vietnamese Genetic Variation Database	Global	Study-wide	212	C=0.925	T=0.075
SGDP_PRJ	Global	Study-wide	80	C=0.44	T=0.56
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	50	C=1.00	T=0.00
The Danish reference pan genome	Danish	Study-wide	40	C=0.97	T=0.03
Siberian	Global	Study-wide	6	C=0.5	T=0.5

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 12	NC_000012.12:g.40208138C>T
GRCh37.p13 chr 12	NC_000012.11:g.40601940C>T

Gene: LOC105369735, uncharacterized LOC105369735 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105369735 transcript variant X3	XR_007063560.1:n.451C>T	N/A	Non Coding Transcript Variant
LOC105369735 transcript variant X2	XR_007063561.1:n.	N/A	Intron Variant
LOC105369735 transcript variant X1	XR_944865.4:n.	N/A	Intron Variant

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	C=	T
GRCh38.p14 chr 12	NC_000012.12:g.40208138=	NC_000012.12:g.40208138C>T
GRCh37.p13 chr 12	NC_000012.11:g.40601940=	NC_000012.11:g.40601940C>T
LOC105369735 transcript variant X3	XR_007063560.1:n.451=	XR_007063560.1:n.451C>T

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#.

117 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	PERLEGEN	ss16315518	Feb 27, 2004 (120)
2	CSHL-HAPMAP	ss19226750	Feb 27, 2004 (120)
3	PERLEGEN	ss23937167	Sep 20, 2004 (123)
4	BCM-HGSC	ss28465133	Sep 20, 2004 (126)
5	ABI	ss38960751	Mar 11, 2006 (126)
6	AFFY	ss66157865	Nov 29, 2006 (127)
7	AFFY	ss76196251	Dec 08, 2007 (130)
8	KRIBB_YJKIM	ss82866858	Dec 16, 2007 (130)
9	ILLUMINA	ss159966623	Dec 01, 2009 (131)
10	ENSEMBL	ss161523845	Dec 01, 2009 (131)
11	AFFY	ss172772262	Jul 04, 2010 (132)
12	1000GENOMES	ss235905432	Jul 15, 2010 (132)
13	GMI	ss281363653	May 04, 2012 (137)
14	PJP	ss291425374	May 09, 2011 (134)
15	ILLUMINA	ss410892441	Sep 17, 2011 (135)
16	ILLUMINA	ss479488000	May 04, 2012 (137)
17	ILLUMINA	ss479491979	May 04, 2012 (137)
18	ILLUMINA	ss479932269	Sep 08, 2015 (146)
19	ILLUMINA	ss484543500	May 04, 2012 (137)
20	EXOME_CHIP	ss491466321	May 04, 2012 (137)
21	ILLUMINA	ss536683179	Sep 08, 2015 (146)
22	SSMP	ss658665033	Apr 25, 2013 (138)
23	ILLUMINA	ss778379759	Sep 08, 2015 (146)
24	ILLUMINA	ss780680982	Sep 08, 2015 (146)
25	ILLUMINA	ss782718386	Sep 08, 2015 (146)
26	ILLUMINA	ss783354279	Sep 08, 2015 (146)
27	ILLUMINA	ss783686004	Sep 08, 2015 (146)
28	ILLUMINA	ss831969901	Sep 08, 2015 (146)
29	ILLUMINA	ss833834732	Sep 08, 2015 (146)
30	EVA-GONL	ss989451164	Aug 21, 2014 (142)
31	JMKIDD_LAB	ss1078401984	Aug 21, 2014 (142)
32	1000GENOMES	ss1344698262	Aug 21, 2014 (142)
33	HAMMER_LAB	ss1397631932	Sep 08, 2015 (146)
34	DDI	ss1426909849	Apr 01, 2015 (144)
35	EVA_GENOME_DK	ss1576234566	Apr 01, 2015 (144)
36	EVA_DECODE	ss1599118451	Apr 01, 2015 (144)
37	EVA_UK10K_ALSPAC	ss1628426927	Apr 01, 2015 (144)
38	EVA_UK10K_TWINSUK	ss1671420960	Apr 01, 2015 (144)
39	EVA_SVP	ss1713321693	Apr 01, 2015 (144)
40	ILLUMINA	ss1752066387	Sep 08, 2015 (146)
41	ILLUMINA	ss1752066388	Sep 08, 2015 (146)
42	ILLUMINA	ss1917872442	Feb 12, 2016 (147)
43	WEILL_CORNELL_DGM	ss1932815067	Feb 12, 2016 (147)
44	ILLUMINA	ss1946336268	Feb 12, 2016 (147)
45	ILLUMINA	ss1959428442	Feb 12, 2016 (147)
46	AMU	ss1966651692	Feb 12, 2016 (147)
47	GENOMED	ss1967571463	Jul 19, 2016 (147)
48	JJLAB	ss2027157980	Sep 14, 2016 (149)
49	ILLUMINA	ss2094872714	Dec 20, 2016 (150)
50	ILLUMINA	ss2095033625	Dec 20, 2016 (150)
51	ILLUMINA	ss2095033626	Dec 20, 2016 (150)
52	USC_VALOUEV	ss2155491050	Dec 20, 2016 (150)
53	HUMAN_LONGEVITY	ss2189132122	Dec 20, 2016 (150)
54	ILLUMINA	ss2632949655	Nov 08, 2017 (151)
55	ILLUMINA	ss2632949656	Nov 08, 2017 (151)
56	ILLUMINA	ss2632949657	Nov 08, 2017 (151)
57	GRF	ss2699830285	Nov 08, 2017 (151)
58	GNOMAD	ss2909591893	Nov 08, 2017 (151)
59	AFFY	ss2984972545	Nov 08, 2017 (151)
60	AFFY	ss2985614844	Nov 08, 2017 (151)
61	SWEGEN	ss3009553823	Nov 08, 2017 (151)
62	ILLUMINA	ss3021423154	Nov 08, 2017 (151)
63	ILLUMINA	ss3626859240	Oct 12, 2018 (152)
64	ILLUMINA	ss3626859241	Oct 12, 2018 (152)
65	ILLUMINA	ss3630959609	Oct 12, 2018 (152)
66	ILLUMINA	ss3633017716	Oct 12, 2018 (152)
67	ILLUMINA	ss3633718524	Oct 12, 2018 (152)
68	ILLUMINA	ss3634500329	Oct 12, 2018 (152)
69	ILLUMINA	ss3634500330	Oct 12, 2018 (152)
70	ILLUMINA	ss3635409362	Oct 12, 2018 (152)
71	ILLUMINA	ss3636185678	Oct 12, 2018 (152)
72	ILLUMINA	ss3637160337	Oct 12, 2018 (152)
73	ILLUMINA	ss3640207662	Oct 12, 2018 (152)
74	ILLUMINA	ss3640207663	Oct 12, 2018 (152)
75	ILLUMINA	ss3644589242	Oct 12, 2018 (152)
76	ILLUMINA	ss3651798581	Oct 12, 2018 (152)
77	ILLUMINA	ss3651798582	Oct 12, 2018 (152)
78	ILLUMINA	ss3651798583	Oct 12, 2018 (152)
79	ILLUMINA	ss3653745497	Oct 12, 2018 (152)
80	EGCUT_WGS	ss3676829308	Jul 13, 2019 (153)
81	EVA_DECODE	ss3693515036	Jul 13, 2019 (153)
82	ILLUMINA	ss3725318157	Jul 13, 2019 (153)
83	ACPOP	ss3738950673	Jul 13, 2019 (153)
84	ILLUMINA	ss3744393929	Jul 13, 2019 (153)
85	ILLUMINA	ss3744801029	Jul 13, 2019 (153)
86	ILLUMINA	ss3744801030	Jul 13, 2019 (153)
87	EVA	ss3750382193	Jul 13, 2019 (153)
88	PAGE_CC	ss3771685687	Jul 13, 2019 (153)
89	ILLUMINA	ss3772300531	Jul 13, 2019 (153)
90	ILLUMINA	ss3772300532	Jul 13, 2019 (153)
91	KHV_HUMAN_GENOMES	ss3815711258	Jul 13, 2019 (153)
92	SGDP_PRJ	ss3878109136	Apr 27, 2020 (154)
93	KRGDB	ss3926714007	Apr 27, 2020 (154)
94	KOGIC	ss3971768320	Apr 27, 2020 (154)
95	EVA	ss3984665533	Apr 26, 2021 (155)
96	EVA	ss3985586411	Apr 26, 2021 (155)
97	EVA	ss4017584510	Apr 26, 2021 (155)
98	TOPMED	ss4915501356	Apr 26, 2021 (155)
99	TOMMO_GENOMICS	ss5205953443	Apr 26, 2021 (155)
100	EVA	ss5237510228	Apr 26, 2021 (155)
101	1000G_HIGH_COVERAGE	ss5290528124	Oct 16, 2022 (156)
102	EVA	ss5315615169	Oct 16, 2022 (156)
103	EVA	ss5405135902	Oct 16, 2022 (156)
104	HUGCELL_USP	ss5485316407	Oct 16, 2022 (156)
105	EVA	ss5510670893	Oct 16, 2022 (156)
106	1000G_HIGH_COVERAGE	ss5587877642	Oct 16, 2022 (156)
107	SANFORD_IMAGENETICS	ss5624299592	Oct 16, 2022 (156)
108	SANFORD_IMAGENETICS	ss5652994812	Oct 16, 2022 (156)
109	TOMMO_GENOMICS	ss5755635764	Oct 16, 2022 (156)
110	EVA	ss5799869989	Oct 16, 2022 (156)
111	YY_MCH	ss5813226876	Oct 16, 2022 (156)
112	EVA	ss5837860643	Oct 16, 2022 (156)
113	EVA	ss5847407675	Oct 16, 2022 (156)
114	EVA	ss5847666365	Oct 16, 2022 (156)
115	EVA	ss5904074501	Oct 16, 2022 (156)
116	EVA	ss5944352263	Oct 16, 2022 (156)
117	EVA	ss5979388543	Oct 16, 2022 (156)
118	1000Genomes	NC_000012.11 - 40601940	Oct 12, 2018 (152)
119	1000Genomes_30x	NC_000012.12 - 40208138	Oct 16, 2022 (156)
120	The Avon Longitudinal Study of Parents and Children	NC_000012.11 - 40601940	Oct 12, 2018 (152)
121	Chileans	NC_000012.11 - 40601940	Apr 27, 2020 (154)
122	Genome-wide autozygosity in Daghestan	NC_000012.10 - 38888207	Apr 27, 2020 (154)
123	Genetic variation in the Estonian population	NC_000012.11 - 40601940	Oct 12, 2018 (152)
124	The Danish reference pan genome	NC_000012.11 - 40601940	Apr 27, 2020 (154)
125	gnomAD - Genomes	NC_000012.12 - 40208138	Apr 26, 2021 (155)
126	Genome of the Netherlands Release 5	NC_000012.11 - 40601940	Apr 27, 2020 (154)
127	HapMap	NC_000012.12 - 40208138	Apr 27, 2020 (154)
128	KOREAN population from KRGDB	NC_000012.11 - 40601940	Apr 27, 2020 (154)
129	Korean Genome Project	NC_000012.12 - 40208138	Apr 27, 2020 (154)
130	Northern Sweden	NC_000012.11 - 40601940	Jul 13, 2019 (153)
131	The PAGE Study	NC_000012.12 - 40208138	Jul 13, 2019 (153)
132	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000012.11 - 40601940	Apr 26, 2021 (155)
133	CNV burdens in cranial meningiomas	NC_000012.11 - 40601940	Apr 26, 2021 (155)
134	Qatari	NC_000012.11 - 40601940	Apr 27, 2020 (154)
135	SGDP_PRJ	NC_000012.11 - 40601940	Apr 27, 2020 (154)
136	Siberian	NC_000012.11 - 40601940	Apr 27, 2020 (154)
137	8.3KJPN	NC_000012.11 - 40601940	Apr 26, 2021 (155)
138	14KJPN	NC_000012.12 - 40208138	Oct 16, 2022 (156)
139	TopMed	NC_000012.12 - 40208138	Apr 26, 2021 (155)
140	UK 10K study - Twins	NC_000012.11 - 40601940	Oct 12, 2018 (152)
141	A Vietnamese Genetic Variation Database	NC_000012.11 - 40601940	Jul 13, 2019 (153)
142	ALFA	NC_000012.12 - 40208138	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)
rs17443290	Mar 11, 2006 (126)
rs56574557	May 26, 2008 (130)
rs61055124	Feb 27, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
102863, ss66157865, ss76196251, ss172772262, ss281363653, ss291425374, ss479488000, ss1397631932, ss1599118451, ss1713321693, ss2094872714	NC_000012.10:38888206:C:T	NC_000012.12:40208137:C:T	(self)
57435217, 31894064, 97365, 22567556, 2931556, 14233939, 33891401, 12235538, 812338, 215025, 14856997, 30126116, 8007404, 63922750, 31894064, 7077950, ss235905432, ss479491979, ss479932269, ss484543500, ss491466321, ss536683179, ss658665033, ss778379759, ss780680982, ss782718386, ss783354279, ss783686004, ss831969901, ss833834732, ss989451164, ss1078401984, ss1344698262, ss1426909849, ss1576234566, ss1628426927, ss1671420960, ss1752066387, ss1752066388, ss1917872442, ss1932815067, ss1946336268, ss1959428442, ss1966651692, ss1967571463, ss2027157980, ss2095033625, ss2095033626, ss2155491050, ss2632949655, ss2632949656, ss2632949657, ss2699830285, ss2909591893, ss2984972545, ss2985614844, ss3009553823, ss3021423154, ss3626859240, ss3626859241, ss3630959609, ss3633017716, ss3633718524, ss3634500329, ss3634500330, ss3635409362, ss3636185678, ss3637160337, ss3640207662, ss3640207663, ss3644589242, ss3651798581, ss3651798582, ss3651798583, ss3653745497, ss3676829308, ss3738950673, ss3744393929, ss3744801029, ss3744801030, ss3750382193, ss3772300531, ss3772300532, ss3878109136, ss3926714007, ss3984665533, ss3985586411, ss4017584510, ss5205953443, ss5237510228, ss5315615169, ss5405135902, ss5510670893, ss5624299592, ss5652994812, ss5799869989, ss5837860643, ss5847407675, ss5847666365, ss5944352263, ss5979388543	NC_000012.11:40601939:C:T	NC_000012.12:40208137:C:T	(self)
75403577, 405015855, 798271, 28146321, 907156, 89472868, 131047013, 3735168209, ss2189132122, ss3693515036, ss3725318157, ss3771685687, ss3815711258, ss3971768320, ss4915501356, ss5290528124, ss5485316407, ss5587877642, ss5755635764, ss5813226876, ss5904074501	NC_000012.12:40208137:C:T	NC_000012.12:40208137:C:T	(self)
ss19226750	NT_029419.10:2745245:C:T	NC_000012.12:40208137:C:T	(self)
ss16315518, ss23937167, ss28465133, ss38960751, ss82866858, ss159966623, ss161523845, ss410892441	NT_029419.12:2745245:C:T	NC_000012.12:40208137:C:T	(self)

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

21 citations for rs11175593

PMID	Title	Author	Year	Journal
18587394	Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.	Barrett JC et al.	2008	Nature genetics
19068216	Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship.	Anderson CA et al.	2009	Gastroenterology
19474294	Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.	Hindorff LA et al.	2009	Proceedings of the National Academy of Sciences of the United States of America
20228799	Genome-wide association identifies multiple ulcerative colitis susceptibility loci.	McGovern DP et al.	2010	Nature genetics
20805105	Synthetic associations in the context of genome-wide association scan signals.	Orozco G et al.	2010	Human molecular genetics
20876667	Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.	Panagiotou OA et al.	2010	American journal of epidemiology
21152001	Association of variants at 1q32 and STAT3 with ankylosing spondylitis suggests genetic overlap with Crohn's disease.	Danoy P et al.	2010	PLoS genetics
21217814	Presymptomatic risk assessment for chronic non-communicable diseases.	Padhukasahasram B 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
21730793	Influence of Crohn's disease risk alleles and smoking on disease location.	Chen H et al.	2011	Diseases of the colon and rectum
21752155	Genetic susceptibility to inflammation and colonic transit in lower functional gastrointestinal disorders: preliminary analysis.	Camilleri M et al.	2011	Neurogastroenterology and motility
21829393	Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.	Plagnol V et al.	2011	PLoS genetics
21830272	Distinct and overlapping genetic loci in Crohn's disease and ulcerative colitis: correlations with pathogenesis.	Waterman M et al.	2011	Inflammatory bowel diseases
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
22770979	Presence of multiple independent effects in risk loci of common complex human diseases.	Ke X et al.	2012	American journal of human genetics
22922229	Seven newly identified loci for autoimmune thyroid disease.	Cooper JD et al.	2012	Human molecular genetics
23300620	Genotype/phenotype analyses for 53 Crohn's disease associated genetic polymorphisms.	Jung C et al.	2012	PloS one
23619718	Genome-wide association study signal at the 12q12 locus for Crohn's disease may represent associations with the MUC19 gene.	Kumar V et al.	2013	Inflammatory bowel diseases
27936930	Different Contributions of CDKAL1, KIF21B, and LRRK2/MUC19 Polymorphisms to SAPHO Syndrome, Rheumatoid Arthritis, Ankylosing Spondylitis, and Seronegative Spondyloarthropathy.	Li N et al.	2017	Genetic testing and molecular biomarkers
29228965	Genetic polymorphism in ATG16L1 gene is associated with adalimumab use in inflammatory bowel disease.	Nuij VJAA et al.	2017	Journal of translational medicine
29967744	Association of Crohn's disease-related chromosome 1q32 with ankylosing spondylitis is independent of bowel symptoms and faecal calprotectin.	Roberts RL et al.	2018	PeerJ

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dbSNP Short Genetic Variations

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Reference SNP (rs) Report

rs11175593