Name: rs784567
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.

rs784567

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:53500681 (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 / G>C / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.320673 (84879/264690, TOPMED)
A=0.448982 (64991/144752, ALFA)
A=0.00004 (1/28258, 14KJPN) (+ 16 more)
A=0.2211 (1416/6404, 1000G_30x)
A=0.2230 (1117/5008, 1000G)
G=0.4996 (2238/4480, Estonian)
G=0.4909 (1892/3854, ALSPAC)
G=0.4924 (1826/3708, TWINSUK)
A=0.0007 (2/2922, KOREAN)
A=0.0005 (1/1832, Korea1K)
A=0.2040 (275/1348, HapMap)
G=0.492 (491/998, GoNL)
A=0.294 (184/626, Chileans)
G=0.392 (235/600, NorthernSweden)
A=0.370 (80/216, Qatari)
G=0.335 (71/212, SGDP_PRJ)
A=0.019 (4/210, Vietnamese)
A=0.47 (19/40, GENOME_DK)
G=0.35 (12/34, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: MAP3K12 : 5 Prime UTR Variant
TARBP2 : 2KB Upstream Variant
Publications: 16 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	144752	G=0.551018	A=0.448982, C=0.000000, T=0.000000
European	Sub	121002	G=0.507173	A=0.492827, C=0.000000, T=0.000000
African	Sub	7238	G=0.9323	A=0.0677, C=0.0000, T=0.0000
African Others	Sub	254	G=0.980	A=0.020, C=0.000, T=0.000
African American	Sub	6984	G=0.9306	A=0.0694, C=0.0000, T=0.0000
Asian	Sub	672	G=0.982	A=0.018, C=0.000, T=0.000
East Asian	Sub	510	G=0.998	A=0.002, C=0.000, T=0.000
Other Asian	Sub	162	G=0.932	A=0.068, C=0.000, T=0.000
Latin American 1	Sub	796	G=0.687	A=0.313, C=0.000, T=0.000
Latin American 2	Sub	8150	G=0.7560	A=0.2440, C=0.0000, T=0.0000
South Asian	Sub	142	G=0.641	A=0.359, C=0.000, T=0.000
Other	Sub	6752	G=0.6198	A=0.3802, C=0.0000, T=0.0000

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	G=0.679327	A=0.320673
Allele Frequency Aggregator	Total	Global	144752	G=0.551018	A=0.448982, C=0.000000, T=0.000000
Allele Frequency Aggregator	European	Sub	121002	G=0.507173	A=0.492827, C=0.000000, T=0.000000
Allele Frequency Aggregator	Latin American 2	Sub	8150	G=0.7560	A=0.2440, C=0.0000, T=0.0000
Allele Frequency Aggregator	African	Sub	7238	G=0.9323	A=0.0677, C=0.0000, T=0.0000
Allele Frequency Aggregator	Other	Sub	6752	G=0.6198	A=0.3802, C=0.0000, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	796	G=0.687	A=0.313, C=0.000, T=0.000
Allele Frequency Aggregator	Asian	Sub	672	G=0.982	A=0.018, C=0.000, T=0.000
Allele Frequency Aggregator	South Asian	Sub	142	G=0.641	A=0.359, C=0.000, T=0.000
14KJPN	JAPANESE	Study-wide	28258	G=0.99996	A=0.00004
1000Genomes_30x	Global	Study-wide	6404	G=0.7789	A=0.2211
1000Genomes_30x	African	Sub	1786	G=0.9748	A=0.0252
1000Genomes_30x	Europe	Sub	1266	G=0.5111	A=0.4889
1000Genomes_30x	South Asian	Sub	1202	G=0.6231	A=0.3769
1000Genomes_30x	East Asian	Sub	1170	G=0.9889	A=0.0111
1000Genomes_30x	American	Sub	980	G=0.708	A=0.292
1000Genomes	Global	Study-wide	5008	G=0.7770	A=0.2230
1000Genomes	African	Sub	1322	G=0.9690	A=0.0310
1000Genomes	East Asian	Sub	1008	G=0.9881	A=0.0119
1000Genomes	Europe	Sub	1006	G=0.5040	A=0.4960
1000Genomes	South Asian	Sub	978	G=0.630	A=0.370
1000Genomes	American	Sub	694	G=0.707	A=0.293
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.4996	A=0.5004
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.4909	A=0.5091
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.4924	A=0.5076
KOREAN population from KRGDB	KOREAN	Study-wide	2922	G=0.9993	A=0.0007
Korean Genome Project	KOREAN	Study-wide	1832	G=0.9995	A=0.0005
HapMap	Global	Study-wide	1348	G=0.7960	A=0.2040
HapMap	American	Sub	756	G=0.684	A=0.316
HapMap	African	Sub	504	G=0.929	A=0.071
HapMap	Asian	Sub	88	G=1.00	A=0.00
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.492	A=0.508
Chileans	Chilean	Study-wide	626	G=0.706	A=0.294
Northern Sweden	ACPOP	Study-wide	600	G=0.392	A=0.608
Qatari	Global	Study-wide	216	G=0.630	A=0.370
SGDP_PRJ	Global	Study-wide	212	G=0.335	A=0.665
A Vietnamese Genetic Variation Database	Global	Study-wide	210	G=0.981	A=0.019
The Danish reference pan genome	Danish	Study-wide	40	G=0.53	A=0.47
Siberian	Global	Study-wide	34	G=0.35	A=0.65

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.53500681G>A
GRCh38.p14 chr 12	NC_000012.12:g.53500681G>C
GRCh38.p14 chr 12	NC_000012.12:g.53500681G>T
GRCh37.p13 chr 12	NC_000012.11:g.53894465G>A
GRCh37.p13 chr 12	NC_000012.11:g.53894465G>C
GRCh37.p13 chr 12	NC_000012.11:g.53894465G>T

Gene: MAP3K12, mitogen-activated protein kinase kinase kinase 12 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MAP3K12 transcript variant 1	NM_001193511.2:c.	N/A	Genic Upstream Transcript Variant
MAP3K12 transcript variant 2	NM_006301.4:c.	N/A	Genic Upstream Transcript Variant
MAP3K12 transcript variant X2	XM_011538725.4:c.-691=	N/A	5 Prime UTR Variant
MAP3K12 transcript variant X1	XM_005269138.5:c.	N/A	Genic Upstream Transcript Variant
MAP3K12 transcript variant X7	XM_005269140.3:c.	N/A	Genic Upstream Transcript Variant
MAP3K12 transcript variant X3	XM_006719588.5:c.	N/A	Genic Upstream Transcript Variant
MAP3K12 transcript variant X4	XM_017019956.3:c.	N/A	Genic Upstream Transcript Variant
MAP3K12 transcript variant X5	XM_047429522.1:c.	N/A	Genic Upstream Transcript Variant
MAP3K12 transcript variant X6	XM_047429523.1:c.	N/A	Genic Upstream Transcript Variant

Gene: TARBP2, TARBP2 subunit of RISC loading complex (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
TARBP2 transcript variant 3	NM_004178.5:c.	N/A	Upstream Transcript Variant
TARBP2 transcript variant 1	NM_134323.2:c.	N/A	Upstream Transcript Variant
TARBP2 transcript variant 2	NM_134324.3:c.	N/A	Upstream Transcript Variant
TARBP2 transcript variant X1	XM_005269115.2:c.	N/A	Upstream Transcript Variant
TARBP2 transcript variant X2	XM_047429485.1:c.	N/A	Upstream Transcript Variant
TARBP2 transcript variant X4	XM_011538712.4:c.	N/A	N/A
TARBP2 transcript variant X3	XM_017019911.3:c.	N/A	N/A

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	G=	A	C	T
GRCh38.p14 chr 12	NC_000012.12:g.53500681=	NC_000012.12:g.53500681G>A	NC_000012.12:g.53500681G>C	NC_000012.12:g.53500681G>T
GRCh37.p13 chr 12	NC_000012.11:g.53894465=	NC_000012.11:g.53894465G>A	NC_000012.11:g.53894465G>C	NC_000012.11:g.53894465G>T
MAP3K12 transcript variant X2	XM_011538725.4:c.-691=	XM_011538725.4:c.-691C>T	XM_011538725.4:c.-691C>G	XM_011538725.4:c.-691C>A
MAP3K12 transcript variant X2	XM_011538725.3:c.-691=	XM_011538725.3:c.-691C>T	XM_011538725.3:c.-691C>G	XM_011538725.3:c.-691C>A
MAP3K12 transcript variant X2	XM_011538725.2:c.-691=	XM_011538725.2:c.-691C>T	XM_011538725.2:c.-691C>G	XM_011538725.2:c.-691C>A

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#.

105 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss938005	Oct 05, 2000 (86)
2	KWOK	ss1891769	Oct 18, 2000 (87)
3	SC_JCM	ss2553823	Nov 09, 2000 (92)
4	SC_JCM	ss3449473	Sep 28, 2001 (100)
5	SC_JCM	ss3788395	Sep 28, 2001 (100)
6	SC_JCM	ss4132883	Nov 05, 2001 (101)
7	PERLEGEN	ss24392831	Sep 20, 2004 (123)
8	ILLUMINA	ss65761915	Oct 16, 2006 (127)
9	AFFY	ss66138706	Dec 01, 2006 (127)
10	ILLUMINA	ss74883507	Dec 07, 2007 (129)
11	AFFY	ss76153947	Dec 07, 2007 (129)
12	KRIBB_YJKIM	ss81437995	Dec 15, 2007 (130)
13	BCMHGSC_JDW	ss89159040	Mar 24, 2008 (129)
14	1000GENOMES	ss111958261	Jan 25, 2009 (130)
15	ENSEMBL	ss133172653	Dec 01, 2009 (131)
16	ILLUMINA	ss160921471	Dec 01, 2009 (131)
17	COMPLETE_GENOMICS	ss168323101	Jul 04, 2010 (132)
18	AFFY	ss172657064	Jul 04, 2010 (132)
19	ILLUMINA	ss174581516	Jul 04, 2010 (132)
20	COMPLETE_GENOMICS	ss175132365	Jul 04, 2010 (132)
21	1000GENOMES	ss235940012	Jul 15, 2010 (132)
22	BL	ss255128222	May 09, 2011 (134)
23	GMI	ss286563692	Apr 25, 2013 (138)
24	PJP	ss291253427	May 09, 2011 (134)
25	ILLUMINA	ss481694705	May 04, 2012 (137)
26	ILLUMINA	ss481725870	May 04, 2012 (137)
27	ILLUMINA	ss482693115	Sep 08, 2015 (146)
28	ILLUMINA	ss485642066	May 04, 2012 (137)
29	ILLUMINA	ss537521896	Sep 08, 2015 (146)
30	TISHKOFF	ss563173939	Apr 25, 2013 (138)
31	SSMP	ss658730402	Apr 25, 2013 (138)
32	ILLUMINA	ss778988214	Aug 21, 2014 (142)
33	ILLUMINA	ss783266622	Aug 21, 2014 (142)
34	ILLUMINA	ss784219942	Aug 21, 2014 (142)
35	ILLUMINA	ss832527602	Apr 01, 2015 (144)
36	ILLUMINA	ss834450437	Aug 21, 2014 (142)
37	EVA-GONL	ss989546785	Aug 21, 2014 (142)
38	JMKIDD_LAB	ss1078470125	Aug 21, 2014 (142)
39	1000GENOMES	ss1345069229	Aug 21, 2014 (142)
40	DDI	ss1426937319	Apr 01, 2015 (144)
41	EVA_GENOME_DK	ss1576291648	Apr 01, 2015 (144)
42	EVA_DECODE	ss1599218812	Apr 01, 2015 (144)
43	EVA_UK10K_ALSPAC	ss1628618166	Apr 01, 2015 (144)
44	EVA_UK10K_TWINSUK	ss1671612199	Apr 01, 2015 (144)
45	EVA_SVP	ss1713328801	Apr 01, 2015 (144)
46	ILLUMINA	ss1752072453	Sep 08, 2015 (146)
47	WEILL_CORNELL_DGM	ss1932911563	Feb 12, 2016 (147)
48	JJLAB	ss2027206987	Sep 14, 2016 (149)
49	USC_VALOUEV	ss2155545880	Dec 20, 2016 (150)
50	HUMAN_LONGEVITY	ss2189895115	Dec 20, 2016 (150)
51	ILLUMINA	ss2632961113	Nov 08, 2017 (151)
52	ILLUMINA	ss2635037068	Nov 08, 2017 (151)
53	GNOMAD	ss2910652264	Nov 08, 2017 (151)
54	AFFY	ss2985617313	Nov 08, 2017 (151)
55	SWEGEN	ss3009710566	Nov 08, 2017 (151)
56	ILLUMINA	ss3021432747	Nov 08, 2017 (151)
57	BIOINF_KMB_FNS_UNIBA	ss3027412261	Nov 08, 2017 (151)
58	CSHL	ss3350070502	Nov 08, 2017 (151)
59	ILLUMINA	ss3626881172	Oct 12, 2018 (152)
60	ILLUMINA	ss3630970164	Oct 12, 2018 (152)
61	ILLUMINA	ss3633020923	Oct 12, 2018 (152)
62	ILLUMINA	ss3633721913	Oct 12, 2018 (152)
63	ILLUMINA	ss3634505663	Oct 12, 2018 (152)
64	ILLUMINA	ss3635412665	Oct 12, 2018 (152)
65	ILLUMINA	ss3636190685	Oct 12, 2018 (152)
66	ILLUMINA	ss3637163654	Oct 12, 2018 (152)
67	ILLUMINA	ss3637964088	Oct 12, 2018 (152)
68	ILLUMINA	ss3640212996	Oct 12, 2018 (152)
69	ILLUMINA	ss3642957608	Oct 12, 2018 (152)
70	ILLUMINA	ss3651809938	Oct 12, 2018 (152)
71	EGCUT_WGS	ss3676981873	Jul 13, 2019 (153)
72	EVA_DECODE	ss3693697355	Jul 13, 2019 (153)
73	ILLUMINA	ss3725326784	Jul 13, 2019 (153)
74	ACPOP	ss3739033828	Jul 13, 2019 (153)
75	ILLUMINA	ss3744806339	Jul 13, 2019 (153)
76	EVA	ss3750496565	Jul 13, 2019 (153)
77	ILLUMINA	ss3772305795	Jul 13, 2019 (153)
78	PACBIO	ss3787230476	Jul 13, 2019 (153)
79	PACBIO	ss3792331483	Jul 13, 2019 (153)
80	PACBIO	ss3797214265	Jul 13, 2019 (153)
81	KHV_HUMAN_GENOMES	ss3815825564	Jul 13, 2019 (153)
82	EVA	ss3833130292	Apr 27, 2020 (154)
83	EVA	ss3840135205	Apr 27, 2020 (154)
84	EVA	ss3845621715	Apr 27, 2020 (154)
85	SGDP_PRJ	ss3878301214	Apr 27, 2020 (154)
86	KRGDB	ss3926937945	Apr 27, 2020 (154)
87	KOGIC	ss3971964647	Apr 27, 2020 (154)
88	TOPMED	ss4918744137	Apr 26, 2021 (155)
89	1000G_HIGH_COVERAGE	ss5290856678	Oct 16, 2022 (156)
90	EVA	ss5315621835	Oct 16, 2022 (156)
91	EVA	ss5405721704	Oct 16, 2022 (156)
92	HUGCELL_USP	ss5485604315	Oct 16, 2022 (156)
93	1000G_HIGH_COVERAGE	ss5588365013	Oct 16, 2022 (156)
94	SANFORD_IMAGENETICS	ss5624302046	Oct 16, 2022 (156)
95	SANFORD_IMAGENETICS	ss5653179510	Oct 16, 2022 (156)
96	TOMMO_GENOMICS	ss5756195456	Oct 16, 2022 (156)
97	EVA	ss5799872679	Oct 16, 2022 (156)
98	YY_MCH	ss5813310108	Oct 16, 2022 (156)
99	EVA	ss5837984280	Oct 16, 2022 (156)
100	EVA	ss5847409288	Oct 16, 2022 (156)
101	EVA	ss5847670632	Oct 16, 2022 (156)
102	EVA	ss5850387352	Oct 16, 2022 (156)
103	EVA	ss5904447087	Oct 16, 2022 (156)
104	EVA	ss5944543299	Oct 16, 2022 (156)
105	EVA	ss5979391845	Oct 16, 2022 (156)
106	1000Genomes	NC_000012.11 - 53894465	Oct 12, 2018 (152)
107	1000Genomes_30x	NC_000012.12 - 53500681	Oct 16, 2022 (156)
108	The Avon Longitudinal Study of Parents and Children	NC_000012.11 - 53894465	Oct 12, 2018 (152)
109	Chileans	NC_000012.11 - 53894465	Apr 27, 2020 (154)
110	Genetic variation in the Estonian population	NC_000012.11 - 53894465	Oct 12, 2018 (152)
111	The Danish reference pan genome	NC_000012.11 - 53894465	Apr 27, 2020 (154)
112	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407722982 (NC_000012.12:53500680:G:A 48407/139918) Row 407722983 (NC_000012.12:53500680:G:C 1/139976) Row 407722984 (NC_000012.12:53500680:G:T 1/139976)	-	Apr 26, 2021 (155)
113	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407722982 (NC_000012.12:53500680:G:A 48407/139918) Row 407722983 (NC_000012.12:53500680:G:C 1/139976) Row 407722984 (NC_000012.12:53500680:G:T 1/139976)	-	Apr 26, 2021 (155)
114	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407722982 (NC_000012.12:53500680:G:A 48407/139918) Row 407722983 (NC_000012.12:53500680:G:C 1/139976) Row 407722984 (NC_000012.12:53500680:G:T 1/139976)	-	Apr 26, 2021 (155)
115	Genome of the Netherlands Release 5	NC_000012.11 - 53894465	Apr 27, 2020 (154)
116	HapMap	NC_000012.12 - 53500681	Apr 27, 2020 (154)
117	KOREAN population from KRGDB	NC_000012.11 - 53894465	Apr 27, 2020 (154)
118	Korean Genome Project	NC_000012.12 - 53500681	Apr 27, 2020 (154)
119	Northern Sweden	NC_000012.11 - 53894465	Jul 13, 2019 (153)
120	Qatari	NC_000012.11 - 53894465	Apr 27, 2020 (154)
121	SGDP_PRJ	NC_000012.11 - 53894465	Apr 27, 2020 (154)
122	Siberian	NC_000012.11 - 53894465	Apr 27, 2020 (154)
123	14KJPN	NC_000012.12 - 53500681	Oct 16, 2022 (156)
124	TopMed	NC_000012.12 - 53500681	Apr 26, 2021 (155)
125	UK 10K study - Twins	NC_000012.11 - 53894465	Oct 12, 2018 (152)
126	A Vietnamese Genetic Variation Database	NC_000012.11 - 53894465	Jul 13, 2019 (153)
127	ALFA	NC_000012.12 - 53500681	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)
rs1716968	Jan 18, 2001 (92)
rs17763606	Oct 08, 2004 (123)
rs60402443	Feb 26, 2009 (130)
rs386613575	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss89159040, ss111958261, ss168323101, ss175132365, ss255128222, ss286563692, ss291253427, ss481694705, ss1599218812, ss1713328801, ss2635037068, ss3642957608	NC_000012.10:52180731:G:A	NC_000012.12:53500680:G:A	(self)
57820017, 32105191, 99565, 22720121, 2969027, 14326203, 34115339, 12318693, 14953493, 30318194, 8062234, 32105191, 7127206, ss235940012, ss481725870, ss482693115, ss485642066, ss537521896, ss563173939, ss658730402, ss778988214, ss783266622, ss784219942, ss832527602, ss834450437, ss989546785, ss1078470125, ss1345069229, ss1426937319, ss1576291648, ss1628618166, ss1671612199, ss1752072453, ss1932911563, ss2027206987, ss2155545880, ss2632961113, ss2910652264, ss2985617313, ss3009710566, ss3021432747, ss3350070502, ss3626881172, ss3630970164, ss3633020923, ss3633721913, ss3634505663, ss3635412665, ss3636190685, ss3637163654, ss3637964088, ss3640212996, ss3651809938, ss3676981873, ss3739033828, ss3744806339, ss3750496565, ss3772305795, ss3787230476, ss3792331483, ss3797214265, ss3833130292, ss3840135205, ss3878301214, ss3926937945, ss5315621835, ss5405721704, ss5624302046, ss5653179510, ss5799872679, ss5837984280, ss5847409288, ss5847670632, ss5944543299, ss5979391845	NC_000012.11:53894464:G:A	NC_000012.12:53500680:G:A	(self)
75890948, 819096, 28342648, 90032560, 134289794, 7555345864, ss2189895115, ss3027412261, ss3693697355, ss3725326784, ss3815825564, ss3845621715, ss3971964647, ss4918744137, ss5290856678, ss5485604315, ss5588365013, ss5756195456, ss5813310108, ss5850387352, ss5904447087	NC_000012.12:53500680:G:A	NC_000012.12:53500680:G:A	(self)
ss938005, ss1891769, ss2553823, ss3449473, ss3788395, ss4132883, ss24392831, ss65761915, ss66138706, ss74883507, ss76153947, ss81437995, ss133172653, ss160921471, ss172657064, ss174581516	NT_029419.12:16037770:G:A	NC_000012.12:53500680:G:A	(self)
7555345864	NC_000012.12:53500680:G:C	NC_000012.12:53500680:G:C	(self)
ss2910652264	NC_000012.11:53894464:G:T	NC_000012.12:53500680:G:T	(self)
7555345864	NC_000012.12:53500680:G:T	NC_000012.12:53500680:G:T	(self)

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

16 citations for rs784567

PMID	Title	Author	Year	Journal
19047128	Single nucleotide polymorphisms of microRNA machinery genes modify the risk of renal cell carcinoma.	Horikawa Y et al.	2008	Clinical cancer research
19138993	Genetic variations in microRNA-related genes are novel susceptibility loci for esophageal cancer risk.	Ye Y et al.	2008	Cancer prevention research (Philadelphia, Pa.)
19851984	Genetic variation in MicroRNA genes and risk of oral premalignant lesions.	Clague J et al.	2010	Molecular carcinogenesis
20211803	Black carbon exposures, blood pressure, and interactions with single nucleotide polymorphisms in MicroRNA processing genes.	Wilker EH et al.	2010	Environmental health perspectives
20495573	Genetic variation in microRNA networks: the implications for cancer research.	Ryan BM et al.	2010	Nature reviews. Cancer
20732906	Genetic variations in microRNA-related genes are associated with survival and recurrence in patients with renal cell carcinoma.	Lin J et al.	2010	Carcinogenesis
21627860	Single-nucleotide polymorphisms among microRNA: big effects on cancer.	Song FJ et al.	2011	Chinese journal of cancer
21692980	Genetic polymorphisms and microRNAs: new direction in molecular epidemiology of solid cancer.	Slaby O et al.	2012	Journal of cellular and molecular medicine
21799879	A dual role for KRT81: a miR-SNP associated with recurrence in non-small-cell lung cancer and a novel marker of squamous cell lung carcinoma.	Campayo M et al.	2011	PloS one
22539802	Impact of MiRSNPs on survival and progression in patients with multiple myeloma undergoing autologous stem cell transplantation.	de Larrea CF et al.	2012	Clinical cancer research
25793711	Genetic variants in miRNA processing genes and pre-miRNAs are associated with the risk of chronic lymphocytic leukemia.	Martin-Guerrero I et al.	2015	PloS one
27107574	Impact of polymorphisms in microRNA biogenesis genes on colon cancer risk and microRNA expression levels: a population-based, case-control study.	Mullany LE et al.	2016	BMC medical genomics
27145460	Significance of microRNA-related variants in susceptibility to recurrence of oropharyngeal cancer patients after definitive radiotherapy.	Chen X et al.	2016	Oncotarget
27498138	Genetic variants in RNA-induced silencing complex genes and prostate cancer.	Nikolić Z et al.	2017	World journal of urology
29853562	Association of variants of miRNA processing genes with cervical precancerous lesion risk in a southern Chinese population.	Huang SQ et al.	2018	Bioscience reports
31354628	Association of Polymorphisms in miRNA Processing Genes With Type 2 Diabetes Mellitus and Its Vascular Complications in a Southern Chinese Population.	Wen Z et al.	2019	Frontiers in endocrinology

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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dbSNP Short Genetic Variations

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Reference SNP (rs) Report

rs784567