Name: rs9790517
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.

rs9790517

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:105163621 (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=0.199709 (52861/264690, TOPMED)
T=0.194217 (27188/139988, GnomAD)
T=0.220471 (29118/132072, ALFA) (+ 20 more)
T=0.23042 (18130/78684, PAGE_STUDY)
C=0.40937 (11568/28258, 14KJPN)
C=0.41432 (6944/16760, 8.3KJPN)
T=0.2709 (1735/6404, 1000G_30x)
T=0.2788 (1396/5008, 1000G)
T=0.2687 (1204/4480, Estonian)
T=0.2011 (775/3854, ALSPAC)
T=0.2058 (763/3708, TWINSUK)
C=0.3901 (1143/2930, KOREAN)
C=0.4045 (741/1832, Korea1K)
T=0.233 (233/998, GoNL)
C=0.387 (305/788, PRJEB37584)
T=0.252 (151/600, NorthernSweden)
T=0.270 (89/330, HapMap)
C=0.329 (106/322, SGDP_PRJ)
T=0.125 (27/216, Qatari)
C=0.347 (75/216, Vietnamese)
T=0.30 (12/40, GENOME_DK)
C=0.35 (12/34, Siberian)
T=0.0 (0/10, Ancient Sardinia)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: TET2 : Intron Variant
LOC124900868 : Intron Variant
Publications: 12 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	132072	C=0.779529	T=0.220471
European	Sub	121276	C=0.778382	T=0.221618
African	Sub	3974	C=0.9343	T=0.0657
African Others	Sub	142	C=0.923	T=0.077
African American	Sub	3832	C=0.9348	T=0.0652
Asian	Sub	374	C=0.345	T=0.655
East Asian	Sub	282	C=0.330	T=0.670
Other Asian	Sub	92	C=0.39	T=0.61
Latin American 1	Sub	310	C=0.839	T=0.161
Latin American 2	Sub	1980	C=0.6808	T=0.3192
South Asian	Sub	126	C=0.643	T=0.357
Other	Sub	4032	C=0.7500	T=0.2500

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	C=0.800291	T=0.199709
gnomAD - Genomes	Global	Study-wide	139988	C=0.805783	T=0.194217
gnomAD - Genomes	European	Sub	75814	C=0.77085	T=0.22915
gnomAD - Genomes	African	Sub	41964	C=0.93125	T=0.06875
gnomAD - Genomes	American	Sub	13636	C=0.72697	T=0.27303
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.7351	T=0.2649
gnomAD - Genomes	East Asian	Sub	3102	C=0.3910	T=0.6090
gnomAD - Genomes	Other	Sub	2150	C=0.7963	T=0.2037
Allele Frequency Aggregator	Total	Global	132072	C=0.779529	T=0.220471
Allele Frequency Aggregator	European	Sub	121276	C=0.778382	T=0.221618
Allele Frequency Aggregator	Other	Sub	4032	C=0.7500	T=0.2500
Allele Frequency Aggregator	African	Sub	3974	C=0.9343	T=0.0657
Allele Frequency Aggregator	Latin American 2	Sub	1980	C=0.6808	T=0.3192
Allele Frequency Aggregator	Asian	Sub	374	C=0.345	T=0.655
Allele Frequency Aggregator	Latin American 1	Sub	310	C=0.839	T=0.161
Allele Frequency Aggregator	South Asian	Sub	126	C=0.643	T=0.357
The PAGE Study	Global	Study-wide	78684	C=0.76958	T=0.23042
The PAGE Study	AfricanAmerican	Sub	32512	C=0.92470	T=0.07530
The PAGE Study	Mexican	Sub	10810	C=0.66596	T=0.33404
The PAGE Study	Asian	Sub	8316	C=0.3886	T=0.6114
The PAGE Study	PuertoRican	Sub	7916	C=0.8175	T=0.1825
The PAGE Study	NativeHawaiian	Sub	4530	C=0.4996	T=0.5004
The PAGE Study	Cuban	Sub	4226	C=0.8180	T=0.1820
The PAGE Study	Dominican	Sub	3826	C=0.8654	T=0.1346
The PAGE Study	CentralAmerican	Sub	2450	C=0.6918	T=0.3082
The PAGE Study	SouthAmerican	Sub	1982	C=0.6579	T=0.3421
The PAGE Study	NativeAmerican	Sub	1260	C=0.7683	T=0.2317
The PAGE Study	SouthAsian	Sub	856	C=0.689	T=0.311
14KJPN	JAPANESE	Study-wide	28258	C=0.40937	T=0.59063
8.3KJPN	JAPANESE	Study-wide	16760	C=0.41432	T=0.58568
1000Genomes_30x	Global	Study-wide	6404	C=0.7291	T=0.2709
1000Genomes_30x	African	Sub	1786	C=0.9485	T=0.0515
1000Genomes_30x	Europe	Sub	1266	C=0.7899	T=0.2101
1000Genomes_30x	South Asian	Sub	1202	C=0.7105	T=0.2895
1000Genomes_30x	East Asian	Sub	1170	C=0.3632	T=0.6368
1000Genomes_30x	American	Sub	980	C=0.710	T=0.290
1000Genomes	Global	Study-wide	5008	C=0.7212	T=0.2788
1000Genomes	African	Sub	1322	C=0.9470	T=0.0530
1000Genomes	East Asian	Sub	1008	C=0.3651	T=0.6349
1000Genomes	Europe	Sub	1006	C=0.7883	T=0.2117
1000Genomes	South Asian	Sub	978	C=0.720	T=0.280
1000Genomes	American	Sub	694	C=0.713	T=0.287
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.7312	T=0.2687
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.7989	T=0.2011
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.7942	T=0.2058
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.3901	T=0.6099
Korean Genome Project	KOREAN	Study-wide	1832	C=0.4045	T=0.5955
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.767	T=0.233
CNV burdens in cranial meningiomas	Global	Study-wide	788	C=0.387	T=0.613
CNV burdens in cranial meningiomas	CRM	Sub	788	C=0.387	T=0.613
Northern Sweden	ACPOP	Study-wide	600	C=0.748	T=0.252
HapMap	Global	Study-wide	330	C=0.730	T=0.270
HapMap	African	Sub	120	C=0.925	T=0.075
HapMap	American	Sub	120	C=0.783	T=0.217
HapMap	Asian	Sub	90	C=0.40	T=0.60
SGDP_PRJ	Global	Study-wide	322	C=0.329	T=0.671
Qatari	Global	Study-wide	216	C=0.875	T=0.125
A Vietnamese Genetic Variation Database	Global	Study-wide	216	C=0.347	T=0.653
The Danish reference pan genome	Danish	Study-wide	40	C=0.70	T=0.30
Siberian	Global	Study-wide	34	C=0.35	T=0.65
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	10	C=1.0	T=0.0

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 4	NC_000004.12:g.105163621C>T
GRCh37.p13 chr 4	NC_000004.11:g.106084778C>T
TET2 RefSeqGene (LRG_626)	NG_028191.1:g.22747C>T

Gene: TET2, tet methylcytosine dioxygenase 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TET2 transcript variant 1	NM_001127208.3:c.-193+166… NM_001127208.3:c.-193+16642C>T	N/A	Intron Variant
TET2 transcript variant 2	NM_017628.4:c.-193+17535C… NM_017628.4:c.-193+17535C>T	N/A	Intron Variant
TET2 transcript variant X1	XM_005263082.4:c.-47+1664… XM_005263082.4:c.-47+16642C>T	N/A	Intron Variant
TET2 transcript variant X4	XM_006714242.4:c.-193+166… XM_006714242.4:c.-193+16642C>T	N/A	Intron Variant
TET2 transcript variant X8	XM_017008319.2:c.-193+166… XM_017008319.2:c.-193+16642C>T	N/A	Intron Variant
TET2 transcript variant X3	XM_024454102.2:c.-305-819… XM_024454102.2:c.-305-8194C>T	N/A	Intron Variant
TET2 transcript variant X2	XM_024454103.2:c.-193+175… XM_024454103.2:c.-193+17535C>T	N/A	Intron Variant
TET2 transcript variant X5	XM_047415839.1:c.-193+166… XM_047415839.1:c.-193+16642C>T	N/A	Intron Variant
TET2 transcript variant X6	XM_047415840.1:c.-193+166… XM_047415840.1:c.-193+16642C>T	N/A	Intron Variant
TET2 transcript variant X7	XM_047415841.1:c.-193+166… XM_047415841.1:c.-193+16642C>T	N/A	Intron Variant
TET2 transcript variant X9	XM_047415842.1:c.-193+166… XM_047415842.1:c.-193+16642C>T	N/A	Intron Variant
TET2 transcript variant X10	XM_047415843.1:c.-47+1664… XM_047415843.1:c.-47+16642C>T	N/A	Intron Variant
TET2 transcript variant X11	XR_007057933.1:n.	N/A	Intron Variant

Gene: LOC124900868, uncharacterized LOC124900868 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC124900868 transcript	XM_047416559.1:c.64+7326G… XM_047416559.1:c.64+7326G>A	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 4	NC_000004.12:g.105163621=	NC_000004.12:g.105163621C>T
GRCh37.p13 chr 4	NC_000004.11:g.106084778=	NC_000004.11:g.106084778C>T
TET2 RefSeqGene (LRG_626)	NG_028191.1:g.22747=	NG_028191.1:g.22747C>T
TET2 transcript variant 1	NM_001127208.2:c.-193+16642=	NM_001127208.2:c.-193+16642C>T
TET2 transcript variant 1	NM_001127208.3:c.-193+16642=	NM_001127208.3:c.-193+16642C>T
TET2 transcript variant 2	NM_017628.4:c.-193+17535=	NM_017628.4:c.-193+17535C>T
TET2 transcript variant X1	XM_005263082.1:c.-47+16642=	XM_005263082.1:c.-47+16642C>T
TET2 transcript variant X1	XM_005263082.4:c.-47+16642=	XM_005263082.4:c.-47+16642C>T
TET2 transcript variant X4	XM_006714242.4:c.-193+16642=	XM_006714242.4:c.-193+16642C>T
TET2 transcript variant X8	XM_017008319.2:c.-193+16642=	XM_017008319.2:c.-193+16642C>T
TET2 transcript variant X3	XM_024454102.2:c.-305-8194=	XM_024454102.2:c.-305-8194C>T
TET2 transcript variant X2	XM_024454103.2:c.-193+17535=	XM_024454103.2:c.-193+17535C>T
TET2 transcript variant X5	XM_047415839.1:c.-193+16642=	XM_047415839.1:c.-193+16642C>T
TET2 transcript variant X6	XM_047415840.1:c.-193+16642=	XM_047415840.1:c.-193+16642C>T
TET2 transcript variant X7	XM_047415841.1:c.-193+16642=	XM_047415841.1:c.-193+16642C>T
TET2 transcript variant X9	XM_047415842.1:c.-193+16642=	XM_047415842.1:c.-193+16642C>T
TET2 transcript variant X10	XM_047415843.1:c.-47+16642=	XM_047415843.1:c.-47+16642C>T
LOC124900868 transcript	XM_047416559.1:c.64+7326=	XM_047416559.1:c.64+7326G>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#.

109 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss13615692	Dec 05, 2003 (119)
2	PERLEGEN	ss24169333	Sep 20, 2004 (123)
3	PERLEGEN	ss68907127	May 16, 2007 (127)
4	HGSV	ss82167459	Dec 16, 2007 (130)
5	BCMHGSC_JDW	ss92716015	Mar 24, 2008 (129)
6	BGI	ss105850453	Feb 06, 2009 (130)
7	1000GENOMES	ss108199089	Jan 23, 2009 (130)
8	ENSEMBL	ss139799990	Dec 01, 2009 (131)
9	GMI	ss157695187	Dec 01, 2009 (131)
10	COMPLETE_GENOMICS	ss166983759	Jul 04, 2010 (132)
11	BCM-HGSC-SUB	ss206420821	Jul 04, 2010 (132)
12	1000GENOMES	ss221120467	Jul 14, 2010 (132)
13	1000GENOMES	ss232530135	Jul 14, 2010 (132)
14	1000GENOMES	ss239791332	Jul 15, 2010 (132)
15	GMI	ss277859245	May 04, 2012 (137)
16	GMI	ss284974805	Apr 25, 2013 (138)
17	PJP	ss293154904	May 09, 2011 (134)
18	ILLUMINA	ss479740226	May 04, 2012 (137)
19	ILLUMINA	ss481976601	May 04, 2012 (137)
20	ILLUMINA	ss482010267	May 04, 2012 (137)
21	ILLUMINA	ss484667069	May 04, 2012 (137)
22	ILLUMINA	ss485781793	May 04, 2012 (137)
23	ILLUMINA	ss537627222	Sep 08, 2015 (146)
24	SSMP	ss651549036	Apr 25, 2013 (138)
25	ILLUMINA	ss779018545	Sep 08, 2015 (146)
26	ILLUMINA	ss779643024	Sep 08, 2015 (146)
27	ILLUMINA	ss781056781	Sep 08, 2015 (146)
28	ILLUMINA	ss783336764	Sep 08, 2015 (146)
29	ILLUMINA	ss784288281	Sep 08, 2015 (146)
30	ILLUMINA	ss832598580	Sep 08, 2015 (146)
31	ILLUMINA	ss834481124	Sep 08, 2015 (146)
32	ILLUMINA	ss835115890	Sep 08, 2015 (146)
33	EVA-GONL	ss980494712	Aug 21, 2014 (142)
34	JMKIDD_LAB	ss1071818551	Aug 21, 2014 (142)
35	1000GENOMES	ss1311140235	Aug 21, 2014 (142)
36	EVA_GENOME_DK	ss1580703205	Apr 01, 2015 (144)
37	EVA_DECODE	ss1589999259	Apr 01, 2015 (144)
38	EVA_UK10K_ALSPAC	ss1610824155	Apr 01, 2015 (144)
39	EVA_UK10K_TWINSUK	ss1653818188	Apr 01, 2015 (144)
40	ILLUMINA	ss1752490828	Sep 08, 2015 (146)
41	WEILL_CORNELL_DGM	ss1923733098	Feb 12, 2016 (147)
42	ILLUMINA	ss1958709680	Feb 12, 2016 (147)
43	GENOMED	ss1969826012	Jul 19, 2016 (147)
44	JJLAB	ss2022451366	Sep 14, 2016 (149)
45	USC_VALOUEV	ss2150581065	Dec 20, 2016 (150)
46	HUMAN_LONGEVITY	ss2265758865	Dec 20, 2016 (150)
47	SYSTEMSBIOZJU	ss2625723672	Nov 08, 2017 (151)
48	ILLUMINA	ss2634159180	Nov 08, 2017 (151)
49	ILLUMINA	ss2634159181	Nov 08, 2017 (151)
50	ILLUMINA	ss2635135388	Nov 08, 2017 (151)
51	GRF	ss2706058746	Nov 08, 2017 (151)
52	ILLUMINA	ss2711012725	Nov 08, 2017 (151)
53	GNOMAD	ss2813319322	Nov 08, 2017 (151)
54	AFFY	ss2985927852	Nov 08, 2017 (151)
55	SWEGEN	ss2995276320	Nov 08, 2017 (151)
56	ILLUMINA	ss3022401779	Nov 08, 2017 (151)
57	BIOINF_KMB_FNS_UNIBA	ss3025001204	Nov 08, 2017 (151)
58	CSHL	ss3345880529	Nov 08, 2017 (151)
59	ILLUMINA	ss3629033466	Oct 12, 2018 (152)
60	ILLUMINA	ss3632093286	Oct 12, 2018 (152)
61	ILLUMINA	ss3632093287	Oct 12, 2018 (152)
62	ILLUMINA	ss3633344419	Oct 12, 2018 (152)
63	ILLUMINA	ss3634063760	Oct 12, 2018 (152)
64	ILLUMINA	ss3634964834	Oct 12, 2018 (152)
65	ILLUMINA	ss3635746464	Oct 12, 2018 (152)
66	ILLUMINA	ss3637499007	Oct 12, 2018 (152)
67	ILLUMINA	ss3640672127	Oct 12, 2018 (152)
68	ILLUMINA	ss3642354426	Oct 12, 2018 (152)
69	URBANLAB	ss3647810848	Oct 12, 2018 (152)
70	ILLUMINA	ss3652889174	Oct 12, 2018 (152)
71	EGCUT_WGS	ss3663174413	Jul 13, 2019 (153)
72	EVA_DECODE	ss3712735285	Jul 13, 2019 (153)
73	ILLUMINA	ss3726158593	Jul 13, 2019 (153)
74	ACPOP	ss3731457151	Jul 13, 2019 (153)
75	ILLUMINA	ss3745265098	Jul 13, 2019 (153)
76	EVA	ss3762212483	Jul 13, 2019 (153)
77	PAGE_CC	ss3771144699	Jul 13, 2019 (153)
78	ILLUMINA	ss3772759613	Jul 13, 2019 (153)
79	PACBIO	ss3784811551	Jul 13, 2019 (153)
80	PACBIO	ss3790254620	Jul 13, 2019 (153)
81	PACBIO	ss3795129970	Jul 13, 2019 (153)
82	KHV_HUMAN_GENOMES	ss3805361951	Jul 13, 2019 (153)
83	EVA	ss3828722758	Apr 26, 2020 (154)
84	EVA	ss3837803335	Apr 26, 2020 (154)
85	EVA	ss3843241934	Apr 26, 2020 (154)
86	SGDP_PRJ	ss3859693707	Apr 26, 2020 (154)
87	KRGDB	ss3905976523	Apr 26, 2020 (154)
88	KOGIC	ss3954811941	Apr 26, 2020 (154)
89	EVA	ss3984532774	Apr 26, 2021 (155)
90	EVA	ss3985087311	Apr 26, 2021 (155)
91	EVA	ss4017161327	Apr 26, 2021 (155)
92	TOPMED	ss4626076420	Apr 26, 2021 (155)
93	TOMMO_GENOMICS	ss5167253944	Apr 26, 2021 (155)
94	1000G_HIGH_COVERAGE	ss5260427709	Oct 13, 2022 (156)
95	EVA	ss5314980100	Oct 13, 2022 (156)
96	EVA	ss5351228373	Oct 13, 2022 (156)
97	HUGCELL_USP	ss5459054435	Oct 13, 2022 (156)
98	EVA	ss5507658058	Oct 13, 2022 (156)
99	1000G_HIGH_COVERAGE	ss5542169304	Oct 13, 2022 (156)
100	SANFORD_IMAGENETICS	ss5624563606	Oct 13, 2022 (156)
101	SANFORD_IMAGENETICS	ss5635746293	Oct 13, 2022 (156)
102	TOMMO_GENOMICS	ss5702034899	Oct 13, 2022 (156)
103	YY_MCH	ss5805386833	Oct 13, 2022 (156)
104	EVA	ss5844478267	Oct 13, 2022 (156)
105	EVA	ss5847248333	Oct 13, 2022 (156)
106	EVA	ss5854371568	Oct 13, 2022 (156)
107	EVA	ss5864836537	Oct 13, 2022 (156)
108	EVA	ss5964141715	Oct 13, 2022 (156)
109	EVA	ss5979709846	Oct 13, 2022 (156)
110	1000Genomes	NC_000004.11 - 106084778	Oct 12, 2018 (152)
111	1000Genomes_30x	NC_000004.12 - 105163621	Oct 13, 2022 (156)
112	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 106084778	Oct 12, 2018 (152)
113	Genetic variation in the Estonian population	NC_000004.11 - 106084778	Oct 12, 2018 (152)
114	The Danish reference pan genome	NC_000004.11 - 106084778	Apr 26, 2020 (154)
115	gnomAD - Genomes	NC_000004.12 - 105163621	Apr 26, 2021 (155)
116	Genome of the Netherlands Release 5	NC_000004.11 - 106084778	Apr 26, 2020 (154)
117	HapMap	NC_000004.12 - 105163621	Apr 26, 2020 (154)
118	KOREAN population from KRGDB	NC_000004.11 - 106084778	Apr 26, 2020 (154)
119	Korean Genome Project	NC_000004.12 - 105163621	Apr 26, 2020 (154)
120	Northern Sweden	NC_000004.11 - 106084778	Jul 13, 2019 (153)
121	The PAGE Study	NC_000004.12 - 105163621	Jul 13, 2019 (153)
122	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000004.11 - 106084778	Apr 26, 2021 (155)
123	CNV burdens in cranial meningiomas	NC_000004.11 - 106084778	Apr 26, 2021 (155)
124	Qatari	NC_000004.11 - 106084778	Apr 26, 2020 (154)
125	SGDP_PRJ	NC_000004.11 - 106084778	Apr 26, 2020 (154)
126	Siberian	NC_000004.11 - 106084778	Apr 26, 2020 (154)
127	8.3KJPN	NC_000004.11 - 106084778	Apr 26, 2021 (155)
128	14KJPN	NC_000004.12 - 105163621	Oct 13, 2022 (156)
129	TopMed	NC_000004.12 - 105163621	Apr 26, 2021 (155)
130	UK 10K study - Twins	NC_000004.11 - 106084778	Oct 12, 2018 (152)
131	A Vietnamese Genetic Variation Database	NC_000004.11 - 106084778	Jul 13, 2019 (153)
132	ALFA	NC_000004.12 - 105163621	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)
rs17617091	Oct 07, 2004 (123)
rs61154880	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss82167459	NC_000004.9:106442381:C:T	NC_000004.12:105163620:C:T	(self)
ss92716015, ss108199089, ss166983759, ss206420821, ss277859245, ss284974805, ss293154904, ss481976601, ss484667069, ss1589999259, ss2635135388	NC_000004.10:106304226:C:T	NC_000004.12:105163620:C:T	(self)
22588508, 12568551, 8912661, 6868144, 5557256, 13153917, 4742016, 313238, 82135, 5775028, 11710687, 3097419, 25223251, 12568551, 2763261, ss221120467, ss232530135, ss239791332, ss479740226, ss482010267, ss485781793, ss537627222, ss651549036, ss779018545, ss779643024, ss781056781, ss783336764, ss784288281, ss832598580, ss834481124, ss835115890, ss980494712, ss1071818551, ss1311140235, ss1580703205, ss1610824155, ss1653818188, ss1752490828, ss1923733098, ss1958709680, ss1969826012, ss2022451366, ss2150581065, ss2625723672, ss2634159180, ss2634159181, ss2706058746, ss2711012725, ss2813319322, ss2985927852, ss2995276320, ss3022401779, ss3345880529, ss3629033466, ss3632093286, ss3632093287, ss3633344419, ss3634063760, ss3634964834, ss3635746464, ss3637499007, ss3640672127, ss3642354426, ss3652889174, ss3663174413, ss3731457151, ss3745265098, ss3762212483, ss3772759613, ss3784811551, ss3790254620, ss3795129970, ss3828722758, ss3837803335, ss3859693707, ss3905976523, ss3984532774, ss3985087311, ss4017161327, ss5167253944, ss5314980100, ss5351228373, ss5507658058, ss5624563606, ss5635746293, ss5844478267, ss5847248333, ss5964141715, ss5979709846	NC_000004.11:106084777:C:T	NC_000004.12:105163620:C:T	(self)
29695239, 160026391, 2677350, 11189942, 366168, 35872003, 463453976, 6648006464, ss2265758865, ss3025001204, ss3647810848, ss3712735285, ss3726158593, ss3771144699, ss3805361951, ss3843241934, ss3954811941, ss4626076420, ss5260427709, ss5459054435, ss5542169304, ss5702034899, ss5805386833, ss5854371568, ss5864836537	NC_000004.12:105163620:C:T	NC_000004.12:105163620:C:T	(self)
ss13615692	NT_016354.16:30579907:C:T	NC_000004.12:105163620:C:T	(self)
ss24169333, ss68907127, ss105850453, ss139799990, ss157695187	NT_016354.19:30632498:C:T	NC_000004.12:105163620:C:T	(self)

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

12 citations for rs9790517

PMID	Title	Author	Year	Journal
23535729	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Michailidou K et al.	2013	Nature genetics
23535825	Common genetic determinants of breast-cancer risk in East Asian women: a collaborative study of 23 637 breast cancer cases and 25 579 controls.	Zheng W et al.	2013	Human molecular genetics
23593120	Evaluating genome-wide association study-identified breast cancer risk variants in African-American women.	Long J et al.	2013	PloS one
24025454	Hereditary breast cancer: ever more pieces to the polygenic puzzle.	Bogdanova N et al.	2013	Hereditary cancer in clinical practice
24359602	Common breast cancer risk variants in the post-COGS era: a comprehensive review.	Maxwell KN et al.	2013	Breast cancer research
24771903	Breast Cancer Risk - From Genetics to Molecular Understanding of Pathogenesis.	Fasching PA et al.	2013	Geburtshilfe und Frauenheilkunde
24832084	Cross-cancer pleiotropic analysis of endometrial cancer: PAGE and E2C2 consortia.	Setiawan VW et al.	2014	Carcinogenesis
24941967	Breast cancer risk assessment using genetic variants and risk factors in a Singapore Chinese population.	Lee CP et al.	2014	Breast cancer research
26510858	Patients with a High Polygenic Risk of Breast Cancer do not have An Increased Risk of Radiotherapy Toxicity.	Dorling L et al.	2016	Clinical cancer research
27392074	The Relationship between Common Genetic Markers of Breast Cancer Risk and Chemotherapy-Induced Toxicity: A Case-Control Study.	Dorling L et al.	2016	PloS one
28152060	Expression Quantitative Trait loci (QTL) in tumor adjacent normal breast tissue and breast tumor tissue.	Quiroz-Zárate A et al.	2017	PloS one
29382703	Common Genetic Variation and Breast Cancer Risk-Past, Present, and Future.	Lilyquist J et al.	2018	Cancer epidemiology, biomarkers & prevention

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs9790517