Name: rs103294
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.

rs103294

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:54293995 (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: T=0.186312 (49315/264690, TOPMED)
T=0.194858 (42219/216666, ALFA)
T=0.181421 (25404/140028, GnomAD) (+ 3 more)
C=0.24322 (6873/28258, 14KJPN)
T=0.2128 (1363/6404, 1000G_30x)
T=0.2413 (456/1890, HapMap)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
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	221700	T=0.194515	C=0.805485
European	Sub	194190	T=0.188140	C=0.811860
African	Sub	9052	T=0.0857	C=0.9143
African Others	Sub	344	T=0.105	C=0.895
African American	Sub	8708	T=0.0850	C=0.9150
Asian	Sub	3662	T=0.6341	C=0.3659
East Asian	Sub	2994	T=0.7164	C=0.2836
Other Asian	Sub	668	T=0.265	C=0.735
Latin American 1	Sub	660	T=0.135	C=0.865
Latin American 2	Sub	5858	T=0.3165	C=0.6835
South Asian	Sub	348	T=0.135	C=0.865
Other	Sub	7930	T=0.1893	C=0.8107

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
TopMed	Global	Study-wide	264690	T=0.186312	C=0.813688
Allele Frequency Aggregator	Total	Global	216666	T=0.194858	C=0.805142
Allele Frequency Aggregator	European	Sub	191096	T=0.187796	C=0.812204
Allele Frequency Aggregator	African	Sub	7912	T=0.0875	C=0.9125
Allele Frequency Aggregator	Other	Sub	7130	T=0.1863	C=0.8137
Allele Frequency Aggregator	Latin American 2	Sub	5858	T=0.3165	C=0.6835
Allele Frequency Aggregator	Asian	Sub	3662	T=0.6341	C=0.3659
Allele Frequency Aggregator	Latin American 1	Sub	660	T=0.135	C=0.865
Allele Frequency Aggregator	South Asian	Sub	348	T=0.135	C=0.865
gnomAD - Genomes	Global	Study-wide	140028	T=0.181421	C=0.818579
gnomAD - Genomes	European	Sub	75844	T=0.21602	C=0.78398
gnomAD - Genomes	African	Sub	41946	T=0.08981	C=0.91019
gnomAD - Genomes	American	Sub	13644	T=0.21951	C=0.78049
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.0834	C=0.9166
gnomAD - Genomes	East Asian	Sub	3122	T=0.5070	C=0.4930
gnomAD - Genomes	Other	Sub	2150	T=0.1851	C=0.8149
14KJPN	JAPANESE	Study-wide	28258	T=0.75678	C=0.24322
1000Genomes_30x	Global	Study-wide	6404	T=0.2128	C=0.7872
1000Genomes_30x	African	Sub	1786	T=0.0728	C=0.9272
1000Genomes_30x	Europe	Sub	1266	T=0.1785	C=0.8215
1000Genomes_30x	South Asian	Sub	1202	T=0.1348	C=0.8652
1000Genomes_30x	East Asian	Sub	1170	T=0.5077	C=0.4923
1000Genomes_30x	American	Sub	980	T=0.256	C=0.744
HapMap	Global	Study-wide	1890	T=0.2413	C=0.7587
HapMap	American	Sub	770	T=0.262	C=0.738
HapMap	African	Sub	690	T=0.065	C=0.935
HapMap	Asian	Sub	254	T=0.760	C=0.240
HapMap	Europe	Sub	176	T=0.091	C=0.909

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 19	NC_000019.10:g.54293995T>C
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.268362T>C
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.268989C>T
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.268988C>T
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.268614C>T
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.268613C>T
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.268962C>T
GRCh37.p13 chr 19	NC_000019.9:g.54797848C>T
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.268734C>T

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 19	NC_000019.10:g.54293995=	NC_000019.10:g.54293995T>C
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.268362=	NW_004166865.1:g.268362T>C
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.268989C>T	NW_003571061.2:g.268989=
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.268988C>T	NW_003571061.1:g.268988=
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.268614C>T	NW_003571055.2:g.268614=
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.268613C>T	NW_003571055.1:g.268613=
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.268962C>T	NT_187693.1:g.268962=
GRCh37.p13 chr 19	NC_000019.9:g.54797848C>T	NC_000019.9:g.54797848=
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.268734C>T	NW_003571054.1:g.268734=

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#.

151 SubSNP, 6 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss109845	Oct 08, 2002 (108)
2	SC_JCM	ss512700	Jul 16, 2000 (80)
3	KWOK	ss1001440	Oct 05, 2000 (87)
4	SC_JCM	ss4364448	Mar 26, 2002 (103)
5	TSC-CSHL	ss5366001	Oct 08, 2002 (108)
6	SC_SNP	ss15448459	Feb 27, 2004 (120)
7	ABI	ss41033936	Mar 15, 2006 (126)
8	AFFY	ss65943783	Nov 30, 2006 (127)
9	ILLUMINA	ss66793399	Nov 30, 2006 (127)
10	ILLUMINA	ss66880801	Nov 30, 2006 (127)
11	ILLUMINA	ss66971605	Nov 30, 2006 (127)
12	PERLEGEN	ss69231420	May 17, 2007 (127)
13	ILLUMINA	ss70364320	May 17, 2007 (127)
14	ILLUMINA	ss70476501	May 25, 2008 (130)
15	ILLUMINA	ss70999478	May 17, 2007 (127)
16	ILLUMINA	ss75848945	Dec 06, 2007 (129)
17	AFFY	ss76666067	Dec 06, 2007 (129)
18	HGSV	ss81026938	Dec 15, 2007 (130)
19	KRIBB_YJKIM	ss83362652	Dec 15, 2007 (130)
20	BCMHGSC_JDW	ss91010170	Mar 24, 2008 (129)
21	HUMANGENOME_JCVI	ss96315379	Feb 05, 2009 (130)
22	BGI	ss106060525	Feb 05, 2009 (130)
23	ILLUMINA	ss121297676	Dec 01, 2009 (131)
24	ENSEMBL	ss132784150	Dec 01, 2009 (131)
25	ILLUMINA	ss152713280	Dec 01, 2009 (131)
26	GMI	ss156015396	Dec 01, 2009 (131)
27	ILLUMINA	ss159121083	Dec 01, 2009 (131)
28	ILLUMINA	ss159887758	Dec 01, 2009 (131)
29	ILLUMINA	ss169361072	Jul 04, 2010 (132)
30	ILLUMINA	ss169999563	Jul 04, 2010 (132)
31	COMPLETE_GENOMICS	ss171866902	Jul 04, 2010 (132)
32	BUSHMAN	ss203791687	Jul 04, 2010 (132)
33	1000GENOMES	ss228192944	Jul 14, 2010 (132)
34	1000GENOMES	ss237716655	Jul 15, 2010 (132)
35	1000GENOMES	ss243913437	Jul 15, 2010 (132)
36	ILLUMINA	ss244268632	Jul 04, 2010 (132)
37	GMI	ss283253282	May 04, 2012 (137)
38	GMI	ss287401656	Apr 25, 2013 (138)
39	PJP	ss292197818	May 09, 2011 (134)
40	ILLUMINA	ss410886411	Sep 17, 2011 (135)
41	ILLUMINA	ss479251694	May 04, 2012 (137)
42	ILLUMINA	ss479254526	May 04, 2012 (137)
43	ILLUMINA	ss479616923	Sep 08, 2015 (146)
44	ILLUMINA	ss484426561	May 04, 2012 (137)
45	ILLUMINA	ss536599927	Sep 08, 2015 (146)
46	TISHKOFF	ss566058303	Apr 25, 2013 (138)
47	SSMP	ss661925763	Apr 25, 2013 (138)
48	ILLUMINA	ss778354332	Sep 08, 2015 (146)
49	ILLUMINA	ss782659735	Sep 08, 2015 (146)
50	ILLUMINA	ss783628794	Sep 08, 2015 (146)
51	ILLUMINA	ss825334051	Jul 19, 2016 (147)
52	ILLUMINA	ss831910221	Sep 08, 2015 (146)
53	ILLUMINA	ss832633808	Jul 13, 2019 (153)
54	ILLUMINA	ss833809052	Sep 08, 2015 (146)
55	EVA-GONL	ss994418480	Aug 21, 2014 (142)
56	JMKIDD_LAB	ss1081984584	Aug 21, 2014 (142)
57	1000GENOMES	ss1363623221	Aug 21, 2014 (142)
58	HAMMER_LAB	ss1397759935	Sep 08, 2015 (146)
59	DDI	ss1428438882	Apr 01, 2015 (144)
60	EVA_GENOME_DK	ss1578686104	Apr 01, 2015 (144)
61	EVA_UK10K_ALSPAC	ss1638182555	Apr 01, 2015 (144)
62	EVA_UK10K_TWINSUK	ss1681176588	Apr 01, 2015 (144)
63	EVA_DECODE	ss1698471761	Apr 01, 2015 (144)
64	EVA_MGP	ss1711526106	Apr 01, 2015 (144)
65	EVA_SVP	ss1713669822	Apr 01, 2015 (144)
66	ILLUMINA	ss1752294558	Sep 08, 2015 (146)
67	WEILL_CORNELL_DGM	ss1937923096	Feb 12, 2016 (147)
68	ILLUMINA	ss1946541986	Feb 12, 2016 (147)
69	ILLUMINA	ss1959882416	Feb 12, 2016 (147)
70	GENOMED	ss1968665133	Jul 19, 2016 (147)
71	JJLAB	ss2029736843	Sep 14, 2016 (149)
72	ILLUMINA	ss2094804458	Dec 20, 2016 (150)
73	ILLUMINA	ss2095086288	Dec 20, 2016 (150)
74	USC_VALOUEV	ss2158287918	Dec 20, 2016 (150)
75	SYSTEMSBIOZJU	ss2629365592	Nov 08, 2017 (151)
76	ILLUMINA	ss2633554671	Nov 08, 2017 (151)
77	ILLUMINA	ss2635085321	Nov 08, 2017 (151)
78	GRF	ss2702902430	Nov 08, 2017 (151)
79	ILLUMINA	ss2710886881	Nov 08, 2017 (151)
80	AFFY	ss2985779319	Nov 08, 2017 (151)
81	SWEGEN	ss3017677388	Nov 08, 2017 (151)
82	ILLUMINA	ss3021924081	Nov 08, 2017 (151)
83	BIOINF_KMB_FNS_UNIBA	ss3028699693	Nov 08, 2017 (151)
84	CSHL	ss3352360935	Nov 08, 2017 (151)
85	ILLUMINA	ss3625745251	Oct 12, 2018 (152)
86	ILLUMINA	ss3627961609	Oct 12, 2018 (152)
87	ILLUMINA	ss3631524735	Oct 12, 2018 (152)
88	ILLUMINA	ss3633184169	Oct 12, 2018 (152)
89	ILLUMINA	ss3633895016	Oct 12, 2018 (152)
90	ILLUMINA	ss3634744065	Oct 12, 2018 (152)
91	ILLUMINA	ss3635581669	Oct 12, 2018 (152)
92	ILLUMINA	ss3636430101	Oct 12, 2018 (152)
93	ILLUMINA	ss3637333448	Oct 12, 2018 (152)
94	ILLUMINA	ss3638235214	Oct 12, 2018 (152)
95	ILLUMINA	ss3639122463	Oct 12, 2018 (152)
96	ILLUMINA	ss3639572073	Oct 12, 2018 (152)
97	ILLUMINA	ss3640451370	Oct 12, 2018 (152)
98	ILLUMINA	ss3641099075	Oct 12, 2018 (152)
99	ILLUMINA	ss3641394780	Oct 12, 2018 (152)
100	ILLUMINA	ss3643207252	Oct 12, 2018 (152)
101	ILLUMINA	ss3644730508	Oct 12, 2018 (152)
102	OMUKHERJEE_ADBS	ss3646542620	Oct 12, 2018 (152)
103	URBANLAB	ss3650943819	Oct 12, 2018 (152)
104	ILLUMINA	ss3652351162	Oct 12, 2018 (152)
105	ILLUMINA	ss3652351163	Oct 12, 2018 (152)
106	EVA_DECODE	ss3703004643	Jul 13, 2019 (153)
107	ILLUMINA	ss3725743551	Jul 13, 2019 (153)
108	ACPOP	ss3743144204	Jul 13, 2019 (153)
109	ILLUMINA	ss3744168710	Jul 13, 2019 (153)
110	ILLUMINA	ss3745044061	Jul 13, 2019 (153)
111	EVA	ss3756202046	Jul 13, 2019 (153)
112	ILLUMINA	ss3772541050	Jul 13, 2019 (153)
113	EVA	ss3835524983	Apr 27, 2020 (154)
114	EVA	ss3841384930	Apr 27, 2020 (154)
115	EVA	ss3846891700	Apr 27, 2020 (154)
116	HGDP	ss3847602537	Apr 27, 2020 (154)
117	SGDP_PRJ	ss3888481390	Apr 27, 2020 (154)
118	KRGDB	ss3938642880	Apr 27, 2020 (154)
119	FSA-LAB	ss3984163403	Apr 27, 2021 (155)
120	EVA	ss3984744517	Apr 27, 2021 (155)
121	EVA	ss3985859855	Apr 27, 2021 (155)
122	EVA	ss3986814153	Apr 27, 2021 (155)
123	EVA	ss4017831058	Apr 27, 2021 (155)
124	VINODS	ss4033856829	Apr 27, 2021 (155)
125	VINODS	ss4033859838	Apr 27, 2021 (155)
126	VINODS	ss4033870392	Apr 27, 2021 (155)
127	VINODS	ss4033875193	Apr 27, 2021 (155)
128	TOPMED	ss5078572705	Apr 27, 2021 (155)
129	TOMMO_GENOMICS	ss5228325672	Apr 27, 2021 (155)
130	EVA	ss5237249552	Apr 27, 2021 (155)
131	EVA	ss5237599482	Apr 27, 2021 (155)
132	1000G_HIGH_COVERAGE	ss5307680897	Oct 16, 2022 (156)
133	EVA	ss5315983754	Oct 16, 2022 (156)
134	EVA	ss5435554080	Oct 16, 2022 (156)
135	HUGCELL_USP	ss5500131823	Oct 16, 2022 (156)
136	EVA	ss5512127418	Oct 16, 2022 (156)
137	1000G_HIGH_COVERAGE	ss5613584118	Oct 16, 2022 (156)
138	SANFORD_IMAGENETICS	ss5624432092	Oct 16, 2022 (156)
139	SANFORD_IMAGENETICS	ss5662634374	Oct 16, 2022 (156)
140	TOMMO_GENOMICS	ss5787148860	Oct 16, 2022 (156)
141	EVA	ss5800011944	Oct 16, 2022 (156)
142	YY_MCH	ss5817709086	Oct 16, 2022 (156)
143	EVA	ss5840716740	Oct 16, 2022 (156)
144	EVA	ss5847499500	Oct 16, 2022 (156)
145	EVA	ss5847850819	Oct 16, 2022 (156)
146	EVA	ss5848502664	Oct 16, 2022 (156)
147	EVA	ss5852335980	Oct 16, 2022 (156)
148	EVA	ss5928549639	Oct 16, 2022 (156)
149	EVA	ss5954035611	Oct 16, 2022 (156)
150	EVA	ss5979551168	Oct 16, 2022 (156)
151	EVA	ss5981067149	Oct 16, 2022 (156)
152	1000Genomes_30x	NC_000019.10 - 54293995	Oct 16, 2022 (156)
153	gnomAD - Genomes	NC_000019.10 - 54293995	Apr 27, 2021 (155)
154	HapMap	NC_000019.10 - 54293995	Apr 27, 2020 (154)
155	14KJPN	NC_000019.10 - 54293995	Oct 16, 2022 (156)
156	TopMed	NC_000019.10 - 54293995	Apr 27, 2021 (155)
157	ALFA	NC_000019.10 - 54293995	Apr 27, 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)
rs798894	Oct 23, 2000 (87)
rs60018117	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss81026938, ss91010170, ss171866902, ss203791687, ss283253282, ss287401656, ss292197818, ss479251694, ss1397759935, ss1698471761, ss1713669822, ss2635085321, ss3639122463, ss3639572073, ss3643207252, ss3847602537	NC_000019.8:59489659:C:C	NC_000019.10:54293994:T:C	(self)
ss228192944, ss237716655, ss243913437, ss479254526, ss479616923, ss484426561, ss536599927, ss566058303, ss661925763, ss778354332, ss782659735, ss783628794, ss831910221, ss832633808, ss833809052, ss994418480, ss1081984584, ss1363623221, ss1428438882, ss1578686104, ss1638182555, ss1681176588, ss1711526106, ss1752294558, ss1937923096, ss1946541986, ss1959882416, ss1968665133, ss2029736843, ss2094804458, ss2095086288, ss2158287918, ss2629365592, ss2633554671, ss2702902430, ss2710886881, ss2985779319, ss3017677388, ss3021924081, ss3352360935, ss3625745251, ss3627961609, ss3631524735, ss3633184169, ss3633895016, ss3634744065, ss3635581669, ss3636430101, ss3637333448, ss3638235214, ss3640451370, ss3641099075, ss3641394780, ss3644730508, ss3646542620, ss3652351162, ss3652351163, ss3743144204, ss3744168710, ss3745044061, ss3756202046, ss3772541050, ss3835524983, ss3841384930, ss3888481390, ss3938642880, ss3984163403, ss3984744517, ss3985859855, ss3986814153, ss4017831058, ss5228325672, ss5237599482, ss5315983754, ss5435554080, ss5512127418, ss5624432092, ss5662634374, ss5800011944, ss5840716740, ss5847499500, ss5847850819, ss5848502664, ss5954035611, ss5979551168, ss5981067149	NC_000019.9:54797847:C:C	NC_000019.10:54293994:T:C	(self)
101110053, 543333106, 1713247, 120985964, 294118369, 9473766658, ss3028699693, ss3650943819, ss3703004643, ss3725743551, ss3846891700, ss5078572705, ss5237249552, ss5307680897, ss5500131823, ss5613584118, ss5787148860, ss5817709086, ss5852335980, ss5928549639	NC_000019.10:54293994:T:C	NC_000019.10:54293994:T:C	(self)
ss109845, ss512700, ss1001440, ss4364448, ss5366001, ss15448459, ss41033936, ss65943783, ss66793399, ss66880801, ss66971605, ss69231420, ss70364320, ss70476501, ss70999478, ss75848945, ss76666067, ss83362652, ss96315379, ss106060525, ss121297676, ss132784150, ss152713280, ss156015396, ss159121083, ss159887758, ss169361072, ss169999563, ss244268632, ss410886411, ss825334051	NT_011109.16:27066065:C:C	NC_000019.10:54293994:T:C	(self)
ss4033875193	NT_187693.1:268961:C:C	NC_000019.10:54293994:T:C	(self)
ss4033856829	NW_003571054.1:268733:C:C	NC_000019.10:54293994:T:C	(self)
ss4033859838	NW_003571055.2:268613:C:C	NC_000019.10:54293994:T:C	(self)
ss4033870392	NW_003571061.2:268988:C:C	NC_000019.10:54293994:T:C	(self)

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

14 citations for rs103294

PMID	Title	Author	Year	Journal
23023329	Genome-wide association study in Chinese men identifies two new prostate cancer risk loci at 9q31.2 and 19q13.4.	Xu J et al.	2012	Nature genetics
24038036	Evaluation of reported prostate cancer risk-associated SNPs from genome-wide association studies of various racial populations in Chinese men.	Na R et al.	2013	The Prostate
24497837	Comprehensive functional annotation of 77 prostate cancer risk loci.	Hazelett DJ et al.	2014	PLoS genetics
24906639	Impact of the leucocyte immunoglobulin-like receptor A3 (LILRA3) on susceptibility and subphenotypes of systemic lupus erythematosus and Sjögren's syndrome.	Du Y et al.	2015	Annals of the rheumatic diseases
25080928	Prostate cancer in East Asia: evolving trend over the last decade.	Zhu Y et al.	2015	Asian journal of andrology
25274378	The prostate cancer susceptibility variant rs2735839 near KLK3 gene is associated with aggressive prostate cancer and can stratify gleason score 7 patients.	He Y et al.	2014	Clinical cancer research
26025378	Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans.	Amin Al Olama A et al.	2015	Human molecular genetics
27070714	Common genetic variation associated with increased susceptibility to prostate cancer does not increase risk of radiotherapy toxicity.	Ahmed M et al.	2016	British journal of cancer
27313952	The Impact of Evolutionary Driving Forces on Human Complex Diseases: A Population Genetics Approach.	Saeb AT et al.	2016	Scientifica
29101112	Prostate Cancer Germline Variations and Implications for Screening and Treatment.	Dias A et al.	2018	Cold Spring Harbor perspectives in medicine
29560112	Systematic identification of functionally relevant risk alleles to stratify aggressive versus indolent prostate cancer.	Nowinski S et al.	2018	Oncotarget
29892050	Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants.	Dadaev T et al.	2018	Nature communications
30498034	Genetic determinants and an epistasis of LILRA3 and HLA-B*52 in Takayasu arteritis.	Terao C et al.	2018	Proceedings of the National Academy of Sciences of the United States of America
34211061	A susceptibility locus in the IL12B but not LILRA3 region is associated with vascular damage in Takayasu arteritis.	Kadoba K et al.	2021	Scientific reports

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs103294