Name: rs1746048
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.

rs1746048

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr10:44280376 (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=0.264664 (70054/264690, TOPMED)
T=0.166964 (39695/237746, ALFA)
T=0.248508 (34808/140068, GnomAD) (+ 22 more)
T=0.34154 (26878/78696, PAGE_STUDY)
T=0.30211 (8537/28258, 14KJPN)
T=0.30257 (5071/16760, 8.3KJPN)
T=0.3379 (2164/6404, 1000G_30x)
T=0.3363 (1684/5008, 1000G)
T=0.1337 (599/4480, Estonian)
T=0.1292 (498/3854, ALSPAC)
T=0.1332 (494/3708, TWINSUK)
T=0.3430 (1005/2930, KOREAN)
T=0.3316 (691/2084, HGDP_Stanford)
T=0.3485 (658/1888, HapMap)
T=0.2535 (288/1136, Daghestan)
T=0.117 (117/998, GoNL)
T=0.349 (272/780, PRJEB37584)
T=0.252 (158/626, Chileans)
T=0.142 (85/600, NorthernSweden)
C=0.373 (115/308, SGDP_PRJ)
T=0.333 (72/216, Qatari)
T=0.300 (63/210, Vietnamese)
T=0.05 (4/84, Ancient Sardinia)
T=0.07 (3/40, GENOME_DK)
C=0.36 (8/22, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
Publications: 53 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	237962	C=0.833028	T=0.166972
European	Sub	200896	C=0.860435	T=0.139565
African	Sub	9244	C=0.5317	T=0.4683
African Others	Sub	320	C=0.434	T=0.566
African American	Sub	8924	C=0.5352	T=0.4648
Asian	Sub	6390	C=0.6995	T=0.3005
East Asian	Sub	4524	C=0.6821	T=0.3179
Other Asian	Sub	1866	C=0.7417	T=0.2583
Latin American 1	Sub	696	C=0.750	T=0.250
Latin American 2	Sub	3724	C=0.7342	T=0.2658
South Asian	Sub	5142	C=0.6684	T=0.3316
Other	Sub	11870	C=0.78290	T=0.21710

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=0.735336	T=0.264664
Allele Frequency Aggregator	Total	Global	237746	C=0.833036	T=0.166964
Allele Frequency Aggregator	European	Sub	200716	C=0.860450	T=0.139550
Allele Frequency Aggregator	Other	Sub	11848	C=0.78283	T=0.21717
Allele Frequency Aggregator	African	Sub	9230	C=0.5316	T=0.4684
Allele Frequency Aggregator	Asian	Sub	6390	C=0.6995	T=0.3005
Allele Frequency Aggregator	South Asian	Sub	5142	C=0.6684	T=0.3316
Allele Frequency Aggregator	Latin American 2	Sub	3724	C=0.7342	T=0.2658
Allele Frequency Aggregator	Latin American 1	Sub	696	C=0.750	T=0.250
gnomAD - Genomes	Global	Study-wide	140068	C=0.751492	T=0.248508
gnomAD - Genomes	European	Sub	75882	C=0.86279	T=0.13721
gnomAD - Genomes	African	Sub	41938	C=0.54175	T=0.45825
gnomAD - Genomes	American	Sub	13650	C=0.77648	T=0.22352
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.8052	T=0.1948
gnomAD - Genomes	East Asian	Sub	3128	C=0.6969	T=0.3031
gnomAD - Genomes	Other	Sub	2148	C=0.7523	T=0.2477
The PAGE Study	Global	Study-wide	78696	C=0.65846	T=0.34154
The PAGE Study	AfricanAmerican	Sub	32510	C=0.54580	T=0.45420
The PAGE Study	Mexican	Sub	10810	C=0.73238	T=0.26762
The PAGE Study	Asian	Sub	8318	C=0.6972	T=0.3028
The PAGE Study	PuertoRican	Sub	7918	C=0.7547	T=0.2453
The PAGE Study	NativeHawaiian	Sub	4534	C=0.8401	T=0.1599
The PAGE Study	Cuban	Sub	4230	C=0.7979	T=0.2021
The PAGE Study	Dominican	Sub	3828	C=0.6526	T=0.3474
The PAGE Study	CentralAmerican	Sub	2450	C=0.7298	T=0.2702
The PAGE Study	SouthAmerican	Sub	1982	C=0.7018	T=0.2982
The PAGE Study	NativeAmerican	Sub	1260	C=0.7667	T=0.2333
The PAGE Study	SouthAsian	Sub	856	C=0.648	T=0.352
14KJPN	JAPANESE	Study-wide	28258	C=0.69789	T=0.30211
8.3KJPN	JAPANESE	Study-wide	16760	C=0.69743	T=0.30257
1000Genomes_30x	Global	Study-wide	6404	C=0.6621	T=0.3379
1000Genomes_30x	African	Sub	1786	C=0.4614	T=0.5386
1000Genomes_30x	Europe	Sub	1266	C=0.8523	T=0.1477
1000Genomes_30x	South Asian	Sub	1202	C=0.6439	T=0.3561
1000Genomes_30x	East Asian	Sub	1170	C=0.6897	T=0.3103
1000Genomes_30x	American	Sub	980	C=0.771	T=0.229
1000Genomes	Global	Study-wide	5008	C=0.6637	T=0.3363
1000Genomes	African	Sub	1322	C=0.4554	T=0.5446
1000Genomes	East Asian	Sub	1008	C=0.6895	T=0.3105
1000Genomes	Europe	Sub	1006	C=0.8549	T=0.1451
1000Genomes	South Asian	Sub	978	C=0.647	T=0.353
1000Genomes	American	Sub	694	C=0.769	T=0.231
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.8663	T=0.1337
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.8708	T=0.1292
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8668	T=0.1332
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.6570	T=0.3430
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.6684	T=0.3316
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.626	T=0.374
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.696	T=0.304
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.726	T=0.274
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.863	T=0.138
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.335	T=0.665
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.602	T=0.398
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.97	T=0.03
HapMap	Global	Study-wide	1888	C=0.6515	T=0.3485
HapMap	American	Sub	768	C=0.737	T=0.263
HapMap	African	Sub	690	C=0.493	T=0.507
HapMap	Asian	Sub	254	C=0.689	T=0.311
HapMap	Europe	Sub	176	C=0.847	T=0.153
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	C=0.7465	T=0.2535
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	C=0.775	T=0.225
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=0.764	T=0.236
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	C=0.664	T=0.336
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.796	T=0.204
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.59	T=0.41
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.72	T=0.28
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.883	T=0.117
CNV burdens in cranial meningiomas	Global	Study-wide	780	C=0.651	T=0.349
CNV burdens in cranial meningiomas	CRM	Sub	780	C=0.651	T=0.349
Chileans	Chilean	Study-wide	626	C=0.748	T=0.252
Northern Sweden	ACPOP	Study-wide	600	C=0.858	T=0.142
SGDP_PRJ	Global	Study-wide	308	C=0.373	T=0.627
Qatari	Global	Study-wide	216	C=0.667	T=0.333
A Vietnamese Genetic Variation Database	Global	Study-wide	210	C=0.700	T=0.300
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	84	C=0.95	T=0.05
The Danish reference pan genome	Danish	Study-wide	40	C=0.93	T=0.07
Siberian	Global	Study-wide	22	C=0.36	T=0.64

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 10	NC_000010.11:g.44280376C>T
GRCh37.p13 chr 10	NC_000010.10:g.44775824C>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	C=	T
GRCh38.p14 chr 10	NC_000010.11:g.44280376=	NC_000010.11:g.44280376C>T
GRCh37.p13 chr 10	NC_000010.10:g.44775824=	NC_000010.10:g.44775824C>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#.

129 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss2592404	Nov 09, 2000 (89)
2	BCM_SSAHASNP	ss10594725	Jul 11, 2003 (116)
3	WI_SSAHASNP	ss12071374	Jul 11, 2003 (116)
4	SC_SNP	ss15787396	Feb 27, 2004 (120)
5	CSHL-HAPMAP	ss19162095	Feb 27, 2004 (120)
6	PERLEGEN	ss24026700	Sep 20, 2004 (123)
7	ABI	ss38548934	Mar 14, 2006 (126)
8	ILLUMINA	ss65768243	Oct 16, 2006 (127)
9	AFFY	ss66290335	Dec 02, 2006 (127)
10	ILLUMINA	ss67186665	Dec 02, 2006 (127)
11	ILLUMINA	ss67562040	Dec 02, 2006 (127)
12	ILLUMINA	ss68181500	Dec 12, 2006 (127)
13	ILLUMINA	ss70664750	May 24, 2008 (130)
14	ILLUMINA	ss71226388	May 18, 2007 (127)
15	ILLUMINA	ss75733809	Dec 07, 2007 (129)
16	AFFY	ss75954550	Dec 07, 2007 (129)
17	KRIBB_YJKIM	ss83868939	Dec 15, 2007 (130)
18	BCMHGSC_JDW	ss88186791	Mar 23, 2008 (129)
19	1000GENOMES	ss109394632	Jan 24, 2009 (130)
20	1000GENOMES	ss113176343	Jan 25, 2009 (130)
21	ENSEMBL	ss131836631	Dec 01, 2009 (131)
22	ILLUMINA	ss153680696	Dec 01, 2009 (131)
23	GMI	ss154942987	Dec 01, 2009 (131)
24	ILLUMINA	ss159318840	Dec 01, 2009 (131)
25	ENSEMBL	ss161338836	Dec 01, 2009 (131)
26	COMPLETE_GENOMICS	ss168259762	Jul 04, 2010 (132)
27	AFFY	ss169626704	Jul 04, 2010 (132)
28	COMPLETE_GENOMICS	ss169782206	Jul 04, 2010 (132)
29	ILLUMINA	ss172833425	Jul 04, 2010 (132)
30	COMPLETE_GENOMICS	ss174512472	Jul 04, 2010 (132)
31	BUSHMAN	ss201447852	Jul 04, 2010 (132)
32	1000GENOMES	ss224693756	Jul 14, 2010 (132)
33	1000GENOMES	ss235152493	Jul 15, 2010 (132)
34	1000GENOMES	ss241863497	Jul 15, 2010 (132)
35	BL	ss254266665	May 09, 2011 (134)
36	GMI	ss280593016	May 04, 2012 (137)
37	GMI	ss286178253	Apr 25, 2013 (138)
38	PJP	ss291026728	May 09, 2011 (134)
39	ILLUMINA	ss410781729	Sep 17, 2011 (135)
40	PAGE_STUDY	ss469415385	May 04, 2012 (137)
41	EXOME_CHIP	ss491434532	May 04, 2012 (137)
42	ILLUMINA	ss536970006	Sep 08, 2015 (146)
43	TISHKOFF	ss561920401	Apr 25, 2013 (138)
44	SSMP	ss656640047	Apr 25, 2013 (138)
45	ILLUMINA	ss780682480	Sep 08, 2015 (146)
46	ILLUMINA	ss783355832	Sep 08, 2015 (146)
47	ILLUMINA	ss832830878	Jul 13, 2019 (153)
48	EVA-GONL	ss987432951	Aug 21, 2014 (142)
49	JMKIDD_LAB	ss1076944148	Aug 21, 2014 (142)
50	1000GENOMES	ss1337224018	Aug 21, 2014 (142)
51	HAMMER_LAB	ss1397580166	Sep 08, 2015 (146)
52	DDI	ss1426300905	Apr 01, 2015 (144)
53	EVA_GENOME_DK	ss1575077695	Apr 01, 2015 (144)
54	EVA_DECODE	ss1597098170	Apr 01, 2015 (144)
55	EVA_UK10K_ALSPAC	ss1624466285	Apr 01, 2015 (144)
56	EVA_UK10K_TWINSUK	ss1667460318	Apr 01, 2015 (144)
57	EVA_SVP	ss1713175245	Apr 01, 2015 (144)
58	ILLUMINA	ss1751968837	Sep 08, 2015 (146)
59	HAMMER_LAB	ss1806363159	Sep 08, 2015 (146)
60	ILLUMINA	ss1917846342	Feb 12, 2016 (147)
61	WEILL_CORNELL_DGM	ss1930783080	Feb 12, 2016 (147)
62	ILLUMINA	ss1946281061	Feb 12, 2016 (147)
63	ILLUMINA	ss1959257662	Feb 12, 2016 (147)
64	GENOMED	ss1967113568	Jul 19, 2016 (147)
65	JJLAB	ss2026115816	Sep 14, 2016 (149)
66	ILLUMINA	ss2094787999	Dec 20, 2016 (150)
67	ILLUMINA	ss2095009571	Dec 20, 2016 (150)
68	USC_VALOUEV	ss2154388673	Dec 20, 2016 (150)
69	HUMAN_LONGEVITY	ss2174386814	Dec 20, 2016 (150)
70	SYSTEMSBIOZJU	ss2627527094	Nov 08, 2017 (151)
71	ILLUMINA	ss2632704629	Nov 08, 2017 (151)
72	GRF	ss2698625012	Nov 08, 2017 (151)
73	GNOMAD	ss2888138232	Nov 08, 2017 (151)
74	AFFY	ss2984910844	Nov 08, 2017 (151)
75	AFFY	ss2985556058	Nov 08, 2017 (151)
76	SWEGEN	ss3006375417	Nov 08, 2017 (151)
77	ILLUMINA	ss3021234983	Nov 08, 2017 (151)
78	BIOINF_KMB_FNS_UNIBA	ss3026846642	Nov 08, 2017 (151)
79	CSHL	ss3349091018	Nov 08, 2017 (151)
80	ILLUMINA	ss3626435692	Oct 12, 2018 (152)
81	ILLUMINA	ss3626435693	Oct 12, 2018 (152)
82	ILLUMINA	ss3634400941	Oct 12, 2018 (152)
83	ILLUMINA	ss3637846971	Oct 12, 2018 (152)
84	ILLUMINA	ss3638939341	Oct 12, 2018 (152)
85	ILLUMINA	ss3639781142	Oct 12, 2018 (152)
86	ILLUMINA	ss3640108283	Oct 12, 2018 (152)
87	ILLUMINA	ss3642850634	Oct 12, 2018 (152)
88	ILLUMINA	ss3643833903	Oct 12, 2018 (152)
89	ILLUMINA	ss3644533749	Oct 12, 2018 (152)
90	ILLUMINA	ss3651586870	Oct 12, 2018 (152)
91	ILLUMINA	ss3651586871	Oct 12, 2018 (152)
92	ILLUMINA	ss3653681139	Oct 12, 2018 (152)
93	EGCUT_WGS	ss3673815315	Jul 13, 2019 (153)
94	EVA_DECODE	ss3689774141	Jul 13, 2019 (153)
95	ILLUMINA	ss3725153505	Jul 13, 2019 (153)
96	ACPOP	ss3737273133	Jul 13, 2019 (153)
97	ILLUMINA	ss3744366202	Jul 13, 2019 (153)
98	ILLUMINA	ss3744701845	Jul 13, 2019 (153)
99	EVA	ss3748037788	Jul 13, 2019 (153)
100	PAGE_CC	ss3771555147	Jul 13, 2019 (153)
101	ILLUMINA	ss3772202436	Jul 13, 2019 (153)
102	KHV_HUMAN_GENOMES	ss3813409827	Jul 13, 2019 (153)
103	EVA	ss3832093727	Apr 26, 2020 (154)
104	HGDP	ss3847383890	Apr 26, 2020 (154)
105	SGDP_PRJ	ss3874058634	Apr 26, 2020 (154)
106	KRGDB	ss3922123765	Apr 26, 2020 (154)
107	EVA	ss3984633348	Apr 26, 2021 (155)
108	EVA	ss3985472048	Apr 26, 2021 (155)
109	EVA	ss4017482738	Apr 26, 2021 (155)
110	TOPMED	ss4850532305	Apr 26, 2021 (155)
111	TOMMO_GENOMICS	ss5197366812	Apr 26, 2021 (155)
112	EVA	ss5237475577	Apr 26, 2021 (155)
113	1000G_HIGH_COVERAGE	ss5283828960	Oct 16, 2022 (156)
114	EVA	ss5315469020	Oct 16, 2022 (156)
115	EVA	ss5393096699	Oct 16, 2022 (156)
116	HUGCELL_USP	ss5479466254	Oct 16, 2022 (156)
117	EVA	ss5509992811	Oct 16, 2022 (156)
118	1000G_HIGH_COVERAGE	ss5577657297	Oct 16, 2022 (156)
119	SANFORD_IMAGENETICS	ss5624246209	Oct 16, 2022 (156)
120	SANFORD_IMAGENETICS	ss5649166551	Oct 16, 2022 (156)
121	TOMMO_GENOMICS	ss5743111559	Oct 16, 2022 (156)
122	YY_MCH	ss5811474016	Oct 16, 2022 (156)
123	EVA	ss5824316757	Oct 16, 2022 (156)
124	EVA	ss5847371917	Oct 16, 2022 (156)
125	EVA	ss5847593932	Oct 16, 2022 (156)
126	EVA	ss5849541759	Oct 16, 2022 (156)
127	EVA	ss5878698270	Oct 16, 2022 (156)
128	EVA	ss5940445877	Oct 16, 2022 (156)
129	EVA	ss5979324078	Oct 16, 2022 (156)
130	1000Genomes	NC_000010.10 - 44775824	Oct 12, 2018 (152)
131	1000Genomes_30x	NC_000010.11 - 44280376	Oct 16, 2022 (156)
132	The Avon Longitudinal Study of Parents and Children	NC_000010.10 - 44775824	Oct 12, 2018 (152)
133	Chileans	NC_000010.10 - 44775824	Apr 26, 2020 (154)
134	Genome-wide autozygosity in Daghestan	NC_000010.9 - 44095830	Apr 26, 2020 (154)
135	Genetic variation in the Estonian population	NC_000010.10 - 44775824	Oct 12, 2018 (152)
136	The Danish reference pan genome	NC_000010.10 - 44775824	Apr 26, 2020 (154)
137	gnomAD - Genomes	NC_000010.11 - 44280376	Apr 26, 2021 (155)
138	Genome of the Netherlands Release 5	NC_000010.10 - 44775824	Apr 26, 2020 (154)
139	HGDP-CEPH-db Supplement 1	NC_000010.9 - 44095830	Apr 26, 2020 (154)
140	HapMap	NC_000010.11 - 44280376	Apr 26, 2020 (154)
141	KOREAN population from KRGDB	NC_000010.10 - 44775824	Apr 26, 2020 (154)
142	Northern Sweden	NC_000010.10 - 44775824	Jul 13, 2019 (153)
143	The PAGE Study	NC_000010.11 - 44280376	Jul 13, 2019 (153)
144	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000010.10 - 44775824	Apr 26, 2021 (155)
145	CNV burdens in cranial meningiomas	NC_000010.10 - 44775824	Apr 26, 2021 (155)
146	Qatari	NC_000010.10 - 44775824	Apr 26, 2020 (154)
147	SGDP_PRJ	NC_000010.10 - 44775824	Apr 26, 2020 (154)
148	Siberian	NC_000010.10 - 44775824	Apr 26, 2020 (154)
149	8.3KJPN	NC_000010.10 - 44775824	Apr 26, 2021 (155)
150	14KJPN	NC_000010.11 - 44280376	Oct 16, 2022 (156)
151	TopMed	NC_000010.11 - 44280376	Apr 26, 2021 (155)
152	UK 10K study - Twins	NC_000010.10 - 44775824	Oct 12, 2018 (152)
153	A Vietnamese Genetic Variation Database	NC_000010.10 - 44775824	Jul 13, 2019 (153)
154	ALFA	NC_000010.11 - 44280376	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)
rs58247805	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3638939341, ss3639781142, ss3643833903	NC_000010.8:44095829:C:T	NC_000010.11:44280375:C:T	(self)
51688, 61782, ss88186791, ss109394632, ss113176343, ss168259762, ss169782206, ss174512472, ss201447852, ss254266665, ss280593016, ss286178253, ss291026728, ss1397580166, ss1597098170, ss1713175245, ss3642850634, ss3847383890	NC_000010.9:44095829:C:T	NC_000010.11:44280375:C:T	(self)
49603829, 27543442, 48821, 19553563, 2132265, 12279229, 29301159, 10557998, 697975, 182806, 12825010, 26075614, 6905027, 55336119, 27543442, 6113326, ss224693756, ss235152493, ss241863497, ss491434532, ss536970006, ss561920401, ss656640047, ss780682480, ss783355832, ss832830878, ss987432951, ss1076944148, ss1337224018, ss1426300905, ss1575077695, ss1624466285, ss1667460318, ss1751968837, ss1806363159, ss1917846342, ss1930783080, ss1946281061, ss1959257662, ss1967113568, ss2026115816, ss2094787999, ss2095009571, ss2154388673, ss2627527094, ss2632704629, ss2698625012, ss2888138232, ss2984910844, ss2985556058, ss3006375417, ss3021234983, ss3349091018, ss3626435692, ss3626435693, ss3634400941, ss3637846971, ss3640108283, ss3644533749, ss3651586870, ss3651586871, ss3653681139, ss3673815315, ss3737273133, ss3744366202, ss3744701845, ss3748037788, ss3772202436, ss3832093727, ss3874058634, ss3922123765, ss3984633348, ss3985472048, ss4017482738, ss5197366812, ss5237475577, ss5315469020, ss5393096699, ss5509992811, ss5624246209, ss5649166551, ss5824316757, ss5847371917, ss5847593932, ss5940445877, ss5979324078	NC_000010.10:44775823:C:T	NC_000010.11:44280375:C:T	(self)
65183232, 350554103, 389319, 776616, 76948663, 66077960, 8562787054, ss2174386814, ss3026846642, ss3689774141, ss3725153505, ss3771555147, ss3813409827, ss4850532305, ss5283828960, ss5479466254, ss5577657297, ss5743111559, ss5811474016, ss5849541759, ss5878698270	NC_000010.11:44280375:C:T	NC_000010.11:44280375:C:T	(self)
ss10594725, ss12071374	NT_033985.5:1898137:C:T	NC_000010.11:44280375:C:T	(self)
ss15787396, ss19162095	NT_033985.6:2179136:C:T	NC_000010.11:44280375:C:T	(self)
ss2592404, ss24026700, ss38548934, ss65768243, ss66290335, ss67186665, ss67562040, ss68181500, ss70664750, ss71226388, ss75733809, ss75954550, ss83868939, ss131836631, ss153680696, ss154942987, ss159318840, ss161338836, ss169626704, ss172833425, ss410781729, ss469415385	NT_033985.7:2420888:C:T	NC_000010.11:44280375:C:T	(self)

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

53 citations for rs1746048

PMID	Title	Author	Year	Journal
19198609	Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.	Kathiresan S et al.	2009	Nature genetics
19956433	Genetics of coronary artery disease: focus on genome-wide association studies.	Baudhuin LM et al.	2009	American journal of translational research
20440292	Early identification of cardiovascular risk using genomics and proteomics.	Kullo IJ et al.	2010	Nature reviews. Cardiology
20729558	Improved prediction of cardiovascular disease based on a panel of single nucleotide polymorphisms identified through genome-wide association studies.	Davies RW et al.	2010	Circulation. Cardiovascular genetics
20835900	Genetics of diabetes complications.	Doria A et al.	2010	Current diabetes reports
20971364	A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses.	Ripatti S et al.	2010	Lancet (London, England)
21239051	Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies.	Reilly MP et al.	2011	Lancet (London, England)
21242481	Genetic risk score and risk of myocardial infarction in Hispanics.	Qi L et al.	2011	Circulation
21369780	Genome-wide association studies in atherosclerosis.	Sivapalaratnam S et al.	2011	Current atherosclerosis reports
21378990	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Schunkert H et al.	2011	Nature genetics
21415067	The novel atherosclerosis locus at 10q11 regulates plasma CXCL12 levels.	Mehta NN et al.	2011	European heart journal
21860704	Implications of discoveries from genome-wide association studies in current cardiovascular practice.	Jeemon P et al.	2011	World journal of cardiology
21875899	Thirty-five common variants for coronary artery disease: the fruits of much collaborative labour.	Peden JF et al.	2011	Human molecular genetics
22144573	Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction.	O'Donnell CJ et al.	2011	Circulation
22151179	Genotype-informed estimation of risk of coronary heart disease based on genome-wide association data linked to the electronic medical record.	Ding K et al.	2011	BMC cardiovascular disorders
22152955	Genetic susceptibility to coronary heart disease in type 2 diabetes: 3 independent studies.	Qi L et al.	2011	Journal of the American College of Cardiology
22216278	Large scale association analysis identifies three susceptibility loci for coronary artery disease.	Saade S et al.	2011	PloS one
22295058	Genetic profiling using genome-wide significant coronary artery disease risk variants does not improve the prediction of subclinical atherosclerosis: the Cardiovascular Risk in Young Finns Study, the Bogalusa Heart Study and the Health 2000 Survey--a meta-analysis of three independent studies.	Hernesniemi JA et al.	2012	PloS one
22363065	Are myocardial infarction--associated single-nucleotide polymorphisms associated with ischemic stroke?	Cheng YC et al.	2012	Stroke
22429504	Genetic predisposition to coronary heart disease and stroke using an additive genetic risk score: a population-based study in Greece.	Yiannakouris N et al.	2012	Atherosclerosis
22588700	Genetics of coronary artery disease in the 21st century.	Roberts R et al.	2012	Clinical cardiology
22807925	Touch of chemokines.	Blanchet X et al.	2012	Frontiers in immunology
22882272	Genetic variants associated with myocardial infarction in the PSMA6 gene and Chr9p21 are also associated with ischaemic stroke.	Heckman MG et al.	2013	European journal of neurology
23468967	Improvement in prediction of coronary heart disease risk over conventional risk factors using SNPs identified in genome-wide association studies.	Bolton JL et al.	2013	PloS one
23531450	Relationship between chemokine (C-X-C motif) ligand 12 gene variant (rs1746048) and coronary heart disease: case-control study and meta-analysis.	Huang Y et al.	2013	Gene
23666823	Genetic variants on chromosome 10q11.21 are associated with ischemic stroke in the northern Chinese Han population.	Zhu R et al.	2013	Journal of molecular neuroscience
24475106	Genetic variants associated with myocardial infarction and the risk factors in Chinese population.	Wang Y et al.	2014	PloS one
24725463	Analysis of common and coding variants with cardiovascular disease in the Diabetes Heart Study.	Adams JN et al.	2014	Cardiovascular diabetology
24932356	Genetics of coronary artery disease: an update.	Roberts R et al.	2014	Methodist DeBakey cardiovascular journal
25542012	Prospective associations of coronary heart disease loci in African Americans using the MetaboChip: the PAGE study.	Franceschini N et al.	2014	PloS one
25804320	Association Between Coronary Artery Disease Genetic Variants and Subclinical Atherosclerosis: An Association Study and Meta-analysis.	Zabalza M et al.	2015	Revista espanola de cardiologia (English ed.)
26324845	Association of chemokine CXC ligand 12 gene polymorphism (rs1746048) with cardiovascular mortality in patients with rheumatoid arthritis: results from the Norfolk Arthritis Register.	Ibrahim I et al.	2015	Annals of the rheumatic diseases
26847647	Experimental Biology for the Identification of Causal Pathways in Atherosclerosis.	Guo Y et al.	2016	Cardiovascular drugs and therapy
26958643	Detailed analysis of association between common single nucleotide polymorphisms and subclinical atherosclerosis: The Multi-ethnic Study of Atherosclerosis.	Vargas JD et al.	2016	Data in brief
26971241	Influence of Genetic Risk Factors on Coronary Heart Disease Occurrence in Afro-Caribbeans.	Larifla L et al.	2016	The Canadian journal of cardiology
27189168	The impact of genome-wide association studies on the pathophysiology and therapy of cardiovascular disease.	Kessler T et al.	2016	EMBO molecular medicine
27294088	Genetics of the acute coronary syndrome.	Franchini M et al.	2016	Annals of translational medicine
27461004	Association of six CpG-SNPs in the inflammation-related genes with coronary heart disease.	Chen X et al.	2016	Human genomics
27716211	A 19-SNP coronary heart disease gene score profile in subjects with type 2 diabetes: the coronary heart disease risk in type 2 diabetes (CoRDia study) study baseline characteristics.	Beaney KE et al.	2016	Cardiovascular diabetology
27888760	Relationship between selected DNA polymorphisms and coronary artery disease complications.	Wirtwein M et al.	2017	International journal of cardiology
28138111	Association of CDKN2B-AS1 rs1333049 with Brain Diseases: A Case-control Study and a Meta-analysis.	Zhao J et al.	2017	Clinical psychopharmacology and neuroscience
28167353	Genetic risk analysis of coronary artery disease in Pakistani subjects using a genetic risk score of 21 variants.	Shahid SU et al.	2017	Atherosclerosis
28426714	A genetic risk score for CAD, psychological stress, and their interaction as predictors of CAD, fatal MI, non-fatal MI and cardiovascular death.	Svensson T et al.	2017	PloS one
28614256	Association between chemokine CXC ligand 12 gene polymorphism (rs1746048) and coronary heart disease: A MOOSE-compliant meta-analysis.	Chen M et al.	2017	Medicine
28705542	Effect of Coronary Artery Disease risk SNPs on serum cytokine levels and cytokine imbalance in Premature Coronary Artery Disease.	Ansari WM et al.	2019	Cytokine
28856136	Impact of a Genetic Risk Score for Coronary Artery Disease on Reducing Cardiovascular Risk: A Pilot Randomized Controlled Study.	Knowles JW et al.	2017	Frontiers in cardiovascular medicine
29557746	Significant Association of CXCL12 rs1746048 with LDL-C Level in Intracranial Aneurysms.	Zhang J et al.	2018	Current neurovascular research
29673405	GWAS implicated risk variants in different genes contribute additively to increase the risk of coronary artery disease (CAD) in the Pakistani subjects.	Shahid SU et al.	2018	Lipids in health and disease
31294628	Identification of Novel CXCL12 Genetic Polymorphisms Associated with Type 2 Diabetes Mellitus: A Chinese Sib-Pair Study.	Yin Q et al.	2019	Genetic testing and molecular biomarkers
31845553	Precision Medicine and Cardiovascular Health: Insights from Mendelian Randomization Analyses.	Spiller W et al.	2020	Korean circulation journal
31862910	The CXCL12 SNPs and their haplotypes are associated with serum lipid traits.	Qiu L et al.	2019	Scientific reports
31933744	Influence of rs1746048 SNPs on clinical manifestations and incidence of acute myocardial infarction in Guangxi Han population.	Wang F et al.	2019	International journal of clinical and experimental pathology
33488114	Impact of PCSK9, WDR12, CDKN2A, and CXCL12 Polymorphisms in Jordanian Cardiovascular Patients on Warfarin Responsiveness and Sensitivity.	Ibdah RK et al.	2021	International journal of general medicine

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).
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dbSNP Short Genetic Variations

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Reference SNP (rs) Report

rs1746048