Name: rs7756992
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.

rs7756992

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:20679478 (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: A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.292128 (102208/349874, ALFA)
G=0.379448 (100436/264690, TOPMED)
G=0.376495 (52695/139962, GnomAD) (+ 23 more)
G=0.45317 (35663/78696, PAGE_STUDY)
G=0.45725 (12921/28258, 14KJPN)
G=0.46152 (7735/16760, 8.3KJPN)
G=0.4169 (2670/6404, 1000G_30x)
G=0.4127 (2067/5008, 1000G)
G=0.3147 (1410/4480, Estonian)
G=0.2730 (1052/3854, ALSPAC)
G=0.2648 (982/3708, TWINSUK)
A=0.4590 (1345/2930, KOREAN)
G=0.3501 (729/2082, HGDP_Stanford)
G=0.4487 (848/1890, HapMap)
A=0.4749 (870/1832, Korea1K)
G=0.3081 (350/1136, Daghestan)
G=0.265 (264/998, GoNL)
A=0.486 (383/788, PRJEB37584)
G=0.377 (236/626, Chileans)
G=0.222 (133/600, NorthernSweden)
A=0.358 (116/324, SGDP_PRJ)
G=0.315 (68/216, Qatari)
G=0.403 (87/216, Vietnamese)
G=0.41 (22/54, Ancient Sardinia)
G=0.30 (12/40, GENOME_DK)
A=0.38 (9/24, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: CDKAL1 : Intron Variant
Publications: 97 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	350090	A=0.707858	G=0.292142, T=0.000000
European	Sub	299030	A=0.725352	G=0.274648, T=0.000000
African	Sub	11368	A=0.44502	G=0.55498, T=0.00000
African Others	Sub	392	A=0.367	G=0.633, T=0.000
African American	Sub	10976	A=0.44780	G=0.55220, T=0.00000
Asian	Sub	6970	A=0.4908	G=0.5092, T=0.0000
East Asian	Sub	5002	A=0.4790	G=0.5210, T=0.0000
Other Asian	Sub	1968	A=0.5208	G=0.4792, T=0.0000
Latin American 1	Sub	1280	A=0.6570	G=0.3430, T=0.0000
Latin American 2	Sub	9374	A=0.6900	G=0.3100, T=0.0000
South Asian	Sub	5238	A=0.7358	G=0.2642, T=0.0000
Other	Sub	16830	A=0.66958	G=0.33042, T=0.00000

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

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	349874	A=0.707872	G=0.292128, T=0.000000
Allele Frequency Aggregator	European	Sub	298850	A=0.725374	G=0.274626, T=0.000000
Allele Frequency Aggregator	Other	Sub	16808	A=0.66938	G=0.33062, T=0.00000
Allele Frequency Aggregator	African	Sub	11354	A=0.44504	G=0.55496, T=0.00000
Allele Frequency Aggregator	Latin American 2	Sub	9374	A=0.6900	G=0.3100, T=0.0000
Allele Frequency Aggregator	Asian	Sub	6970	A=0.4908	G=0.5092, T=0.0000
Allele Frequency Aggregator	South Asian	Sub	5238	A=0.7358	G=0.2642, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	1280	A=0.6570	G=0.3430, T=0.0000
TopMed	Global	Study-wide	264690	A=0.620552	G=0.379448
gnomAD - Genomes	Global	Study-wide	139962	A=0.623505	G=0.376495
gnomAD - Genomes	European	Sub	75832	A=0.71432	G=0.28568
gnomAD - Genomes	African	Sub	41904	A=0.43896	G=0.56104
gnomAD - Genomes	American	Sub	13632	A=0.69139	G=0.30861
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	A=0.6806	G=0.3194
gnomAD - Genomes	East Asian	Sub	3124	A=0.5182	G=0.4818
gnomAD - Genomes	Other	Sub	2148	A=0.6518	G=0.3482
The PAGE Study	Global	Study-wide	78696	A=0.54683	G=0.45317
The PAGE Study	AfricanAmerican	Sub	32516	A=0.44892	G=0.55108
The PAGE Study	Mexican	Sub	10808	A=0.67469	G=0.32531
The PAGE Study	Asian	Sub	8318	A=0.5207	G=0.4793
The PAGE Study	PuertoRican	Sub	7918	A=0.6422	G=0.3578
The PAGE Study	NativeHawaiian	Sub	4534	A=0.4832	G=0.5168
The PAGE Study	Cuban	Sub	4230	A=0.6811	G=0.3189
The PAGE Study	Dominican	Sub	3828	A=0.5697	G=0.4303
The PAGE Study	CentralAmerican	Sub	2446	A=0.6590	G=0.3410
The PAGE Study	SouthAmerican	Sub	1982	A=0.7053	G=0.2947
The PAGE Study	NativeAmerican	Sub	1260	A=0.6810	G=0.3190
The PAGE Study	SouthAsian	Sub	856	A=0.709	G=0.291
14KJPN	JAPANESE	Study-wide	28258	A=0.54275	G=0.45725
8.3KJPN	JAPANESE	Study-wide	16760	A=0.53848	G=0.46152
1000Genomes_30x	Global	Study-wide	6404	A=0.5831	G=0.4169
1000Genomes_30x	African	Sub	1786	A=0.3651	G=0.6349
1000Genomes_30x	Europe	Sub	1266	A=0.7196	G=0.2804
1000Genomes_30x	South Asian	Sub	1202	A=0.7321	G=0.2679
1000Genomes_30x	East Asian	Sub	1170	A=0.5162	G=0.4838
1000Genomes_30x	American	Sub	980	A=0.701	G=0.299
1000Genomes	Global	Study-wide	5008	A=0.5873	G=0.4127
1000Genomes	African	Sub	1322	A=0.3669	G=0.6331
1000Genomes	East Asian	Sub	1008	A=0.5278	G=0.4722
1000Genomes	Europe	Sub	1006	A=0.7187	G=0.2813
1000Genomes	South Asian	Sub	978	A=0.731	G=0.269
1000Genomes	American	Sub	694	A=0.700	G=0.300
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.6853	G=0.3147
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.7270	G=0.2730
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.7352	G=0.2648
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.4590	G=0.5410, T=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2082	A=0.6499	G=0.3501
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.583	G=0.417
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.746	G=0.254
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	348	A=0.687	G=0.313
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.738	G=0.263
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.397	G=0.603
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.690	G=0.310
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.69	G=0.31
HapMap	Global	Study-wide	1890	A=0.5513	G=0.4487
HapMap	American	Sub	770	A=0.639	G=0.361
HapMap	African	Sub	692	A=0.408	G=0.592
HapMap	Asian	Sub	252	A=0.532	G=0.468
HapMap	Europe	Sub	176	A=0.761	G=0.239
Korean Genome Project	KOREAN	Study-wide	1832	A=0.4749	G=0.5251
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	A=0.6919	G=0.3081
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	A=0.664	G=0.336
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	A=0.729	G=0.271
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	A=0.680	G=0.320
Genome-wide autozygosity in Daghestan	Europe	Sub	108	A=0.750	G=0.250
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	A=0.77	G=0.23
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	A=0.69	G=0.31
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.735	G=0.265
CNV burdens in cranial meningiomas	Global	Study-wide	788	A=0.486	G=0.514
CNV burdens in cranial meningiomas	CRM	Sub	788	A=0.486	G=0.514
Chileans	Chilean	Study-wide	626	A=0.623	G=0.377
Northern Sweden	ACPOP	Study-wide	600	A=0.778	G=0.222
SGDP_PRJ	Global	Study-wide	324	A=0.358	G=0.642
Qatari	Global	Study-wide	216	A=0.685	G=0.315
A Vietnamese Genetic Variation Database	Global	Study-wide	216	A=0.597	G=0.403
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	54	A=0.59	G=0.41
The Danish reference pan genome	Danish	Study-wide	40	A=0.70	G=0.30
Siberian	Global	Study-wide	24	A=0.38	G=0.62

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 6	NC_000006.12:g.20679478A>G
GRCh38.p14 chr 6	NC_000006.12:g.20679478A>T
GRCh37.p13 chr 6	NC_000006.11:g.20679709A>G
GRCh37.p13 chr 6	NC_000006.11:g.20679709A>T
CDKAL1 RefSeqGene	NG_021195.2:g.150022A>G
CDKAL1 RefSeqGene	NG_021195.2:g.150022A>T

Gene: CDKAL1, CDK5 regulatory subunit associated protein 1 like 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CDKAL1 transcript	NM_017774.3:c.371+30101A>G	N/A	Intron Variant
CDKAL1 transcript variant X2	XM_011514718.1:c.371+3010… XM_011514718.1:c.371+30101A>G	N/A	Intron Variant
CDKAL1 transcript variant X4	XM_011514719.3:c.371+3010… XM_011514719.3:c.371+30101A>G	N/A	Intron Variant
CDKAL1 transcript variant X5	XM_017010986.2:c.371+3010… XM_017010986.2:c.371+30101A>G	N/A	Intron Variant
CDKAL1 transcript variant X9	XM_024446481.2:c.371+3010… XM_024446481.2:c.371+30101A>G	N/A	Intron Variant
CDKAL1 transcript variant X10	XM_047418947.1:c.371+3010… XM_047418947.1:c.371+30101A>G	N/A	Intron Variant
CDKAL1 transcript variant X11	XM_047418948.1:c.371+3010… XM_047418948.1:c.371+30101A>G	N/A	Intron Variant
CDKAL1 transcript variant X1	XM_047418949.1:c.371+3010… XM_047418949.1:c.371+30101A>G	N/A	Intron Variant
CDKAL1 transcript variant X12	XM_047418950.1:c.371+3010… XM_047418950.1:c.371+30101A>G	N/A	Intron Variant
CDKAL1 transcript variant X13	XM_047418951.1:c.371+3010… XM_047418951.1:c.371+30101A>G	N/A	Intron Variant
CDKAL1 transcript variant X3	XM_047418952.1:c.371+3010… XM_047418952.1:c.371+30101A>G	N/A	Intron Variant
CDKAL1 transcript variant X8	XM_047418958.1:c.371+3010… XM_047418958.1:c.371+30101A>G	N/A	Intron Variant
CDKAL1 transcript variant X14	XM_047418953.1:c.	N/A	Genic Upstream Transcript Variant
CDKAL1 transcript variant X6	XM_047418954.1:c.	N/A	Genic Upstream Transcript Variant
CDKAL1 transcript variant X7	XM_047418955.1:c.	N/A	Genic Upstream Transcript Variant
CDKAL1 transcript variant X15	XM_047418956.1:c.	N/A	Genic Upstream Transcript Variant
CDKAL1 transcript variant X16	XM_047418957.1:c.	N/A	Genic Upstream Transcript 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.

Allele: G (allele ID: 16026 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000001038.5	Type 2 diabetes mellitus	Uncertain-Significance

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	A=	G	T
GRCh38.p14 chr 6	NC_000006.12:g.20679478=	NC_000006.12:g.20679478A>G	NC_000006.12:g.20679478A>T
GRCh37.p13 chr 6	NC_000006.11:g.20679709=	NC_000006.11:g.20679709A>G	NC_000006.11:g.20679709A>T
CDKAL1 RefSeqGene	NG_021195.2:g.150022=	NG_021195.2:g.150022A>G	NG_021195.2:g.150022A>T
CDKAL1 transcript	NM_017774.3:c.371+30101=	NM_017774.3:c.371+30101A>G	NM_017774.3:c.371+30101A>T
CDKAL1 transcript variant X1	XM_005249201.1:c.371+30101=	XM_005249201.1:c.371+30101A>G	XM_005249201.1:c.371+30101A>T
CDKAL1 transcript variant X2	XM_005249202.1:c.161+30101=	XM_005249202.1:c.161+30101A>G	XM_005249202.1:c.161+30101A>T
CDKAL1 transcript variant X3	XM_005249203.1:c.371+30101=	XM_005249203.1:c.371+30101A>G	XM_005249203.1:c.371+30101A>T
CDKAL1 transcript variant X2	XM_011514718.1:c.371+30101=	XM_011514718.1:c.371+30101A>G	XM_011514718.1:c.371+30101A>T
CDKAL1 transcript variant X4	XM_011514719.3:c.371+30101=	XM_011514719.3:c.371+30101A>G	XM_011514719.3:c.371+30101A>T
CDKAL1 transcript variant X5	XM_017010986.2:c.371+30101=	XM_017010986.2:c.371+30101A>G	XM_017010986.2:c.371+30101A>T
CDKAL1 transcript variant X9	XM_024446481.2:c.371+30101=	XM_024446481.2:c.371+30101A>G	XM_024446481.2:c.371+30101A>T
CDKAL1 transcript variant X10	XM_047418947.1:c.371+30101=	XM_047418947.1:c.371+30101A>G	XM_047418947.1:c.371+30101A>T
CDKAL1 transcript variant X11	XM_047418948.1:c.371+30101=	XM_047418948.1:c.371+30101A>G	XM_047418948.1:c.371+30101A>T
CDKAL1 transcript variant X1	XM_047418949.1:c.371+30101=	XM_047418949.1:c.371+30101A>G	XM_047418949.1:c.371+30101A>T
CDKAL1 transcript variant X12	XM_047418950.1:c.371+30101=	XM_047418950.1:c.371+30101A>G	XM_047418950.1:c.371+30101A>T
CDKAL1 transcript variant X13	XM_047418951.1:c.371+30101=	XM_047418951.1:c.371+30101A>G	XM_047418951.1:c.371+30101A>T
CDKAL1 transcript variant X3	XM_047418952.1:c.371+30101=	XM_047418952.1:c.371+30101A>G	XM_047418952.1:c.371+30101A>T
CDKAL1 transcript variant X8	XM_047418958.1:c.371+30101=	XM_047418958.1:c.371+30101A>G	XM_047418958.1:c.371+30101A>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#.

157 SubSNP, 26 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss11805500	Jul 11, 2003 (116)
2	CSHL-HAPMAP	ss19684283	Feb 27, 2004 (120)
3	SSAHASNP	ss22440661	Apr 05, 2004 (121)
4	ABI	ss44686776	Mar 14, 2006 (126)
5	KRIBB_YJKIM	ss65847293	Nov 29, 2006 (127)
6	ILLUMINA	ss66788266	Nov 29, 2006 (127)
7	ILLUMINA	ss67826924	Nov 29, 2006 (127)
8	ILLUMINA	ss67988873	Nov 29, 2006 (127)
9	ILLUMINA	ss70947945	May 26, 2008 (130)
10	ILLUMINA	ss71553400	May 16, 2007 (127)
11	AFFY	ss74846931	Aug 16, 2007 (128)
12	ILLUMINA	ss75774485	Dec 07, 2007 (129)
13	AFFY	ss76754791	Dec 07, 2007 (129)
14	HGSV	ss78919847	Dec 07, 2007 (129)
15	ILLUMINA	ss79268944	Dec 15, 2007 (130)
16	HGSV	ss83357035	Dec 15, 2007 (130)
17	KRIBB_YJKIM	ss84719759	Dec 15, 2007 (130)
18	HGSV	ss85399731	Dec 15, 2007 (130)
19	HUMANGENOME_JCVI	ss98478752	Feb 06, 2009 (130)
20	1000GENOMES	ss109811400	Jan 24, 2009 (130)
21	1000GENOMES	ss113998626	Jan 25, 2009 (130)
22	ILLUMINA-UK	ss116341607	Feb 14, 2009 (130)
23	ILLUMINA	ss122827989	Dec 01, 2009 (131)
24	ENSEMBL	ss143846748	Dec 01, 2009 (131)
25	ILLUMINA	ss154445231	Dec 01, 2009 (131)
26	GMI	ss156613974	Dec 01, 2009 (131)
27	ILLUMINA	ss159620101	Dec 01, 2009 (131)
28	ILLUMINA	ss160911387	Dec 01, 2009 (131)
29	COMPLETE_GENOMICS	ss163226085	Jul 04, 2010 (132)
30	ILLUMINA	ss172342826	Jul 04, 2010 (132)
31	ILLUMINA	ss174532704	Jul 04, 2010 (132)
32	BUSHMAN	ss201506092	Jul 04, 2010 (132)
33	1000GENOMES	ss222248713	Jul 14, 2010 (132)
34	1000GENOMES	ss233352371	Jul 14, 2010 (132)
35	1000GENOMES	ss240430558	Jul 15, 2010 (132)
36	GMI	ss278679364	May 04, 2012 (137)
37	PJP	ss293803572	May 09, 2011 (134)
38	ILLUMINA	ss410951749	Sep 17, 2011 (135)
39	BROAD_NHGRI_T2D	ss411632250	Jul 19, 2016 (147)
40	ILLUMINA	ss481665368	May 04, 2012 (137)
41	ILLUMINA	ss481696072	May 04, 2012 (137)
42	ILLUMINA	ss482663107	Sep 08, 2015 (146)
43	ILLUMINA	ss485627317	May 04, 2012 (137)
44	EXOME_CHIP	ss491378239	May 04, 2012 (137)
45	ILLUMINA	ss537510301	Sep 08, 2015 (146)
46	TISHKOFF	ss559052976	Apr 25, 2013 (138)
47	SSMP	ss652961799	Apr 25, 2013 (138)
48	ILLUMINA	ss778985066	Sep 08, 2015 (146)
49	ILLUMINA	ss780686763	Sep 08, 2015 (146)
50	ILLUMINA	ss783259271	Sep 08, 2015 (146)
51	ILLUMINA	ss783360295	Sep 08, 2015 (146)
52	ILLUMINA	ss784212737	Sep 08, 2015 (146)
53	ILLUMINA	ss825599462	Apr 01, 2015 (144)
54	ILLUMINA	ss832520162	Sep 08, 2015 (146)
55	ILLUMINA	ss833131024	Jul 13, 2019 (153)
56	ILLUMINA	ss834447261	Sep 08, 2015 (146)
57	EVA-GONL	ss982659378	Aug 21, 2014 (142)
58	JMKIDD_LAB	ss1073436711	Aug 21, 2014 (142)
59	1000GENOMES	ss1319246505	Aug 21, 2014 (142)
60	HAMMER_LAB	ss1397443595	Sep 08, 2015 (146)
61	DDI	ss1430660547	Apr 01, 2015 (144)
62	EVA_GENOME_DK	ss1581561846	Apr 01, 2015 (144)
63	EVA_DECODE	ss1592210259	Apr 01, 2015 (144)
64	EVA_UK10K_ALSPAC	ss1615100711	Apr 01, 2015 (144)
65	EVA_UK10K_TWINSUK	ss1658094744	Apr 01, 2015 (144)
66	EVA_SVP	ss1712841745	Apr 01, 2015 (144)
67	ILLUMINA	ss1752618839	Sep 08, 2015 (146)
68	ILLUMINA	ss1752618840	Sep 08, 2015 (146)
69	HAMMER_LAB	ss1804312138	Sep 08, 2015 (146)
70	ILLUMINA	ss1917799735	Feb 12, 2016 (147)
71	WEILL_CORNELL_DGM	ss1925914723	Feb 12, 2016 (147)
72	ILLUMINA	ss1946169009	Feb 12, 2016 (147)
73	ILLUMINA	ss1958868968	Feb 12, 2016 (147)
74	GENOMED	ss1970328903	Jul 19, 2016 (147)
75	JJLAB	ss2023576691	Sep 14, 2016 (149)
76	ILLUMINA	ss2094949388	Dec 20, 2016 (150)
77	ILLUMINA	ss2095171155	Dec 20, 2016 (150)
78	ILLUMINA	ss2095171156	Dec 20, 2016 (150)
79	USC_VALOUEV	ss2151741837	Nov 08, 2017 (151)
80	HUMAN_LONGEVITY	ss2282349885	Dec 20, 2016 (150)
81	SYSTEMSBIOZJU	ss2626276467	Nov 08, 2017 (151)
82	ILLUMINA	ss2634409714	Nov 08, 2017 (151)
83	ILLUMINA	ss2635154502	Nov 08, 2017 (151)
84	GRF	ss2707329804	Nov 08, 2017 (151)
85	ILLUMINA	ss2711061768	Nov 08, 2017 (151)
86	GNOMAD	ss2836559767	Nov 08, 2017 (151)
87	AFFY	ss2985355490	Nov 08, 2017 (151)
88	AFFY	ss2985984914	Nov 08, 2017 (151)
89	SWEGEN	ss2998630612	Nov 08, 2017 (151)
90	ILLUMINA	ss3022581323	Nov 08, 2017 (151)
91	BIOINF_KMB_FNS_UNIBA	ss3025574164	Nov 08, 2017 (151)
92	CSHL	ss3346870402	Nov 08, 2017 (151)
93	ILLUMINA	ss3629460333	Oct 12, 2018 (152)
94	ILLUMINA	ss3629460334	Oct 12, 2018 (152)
95	ILLUMINA	ss3632329482	Oct 12, 2018 (152)
96	ILLUMINA	ss3633408927	Oct 12, 2018 (152)
97	ILLUMINA	ss3634131023	Oct 12, 2018 (152)
98	ILLUMINA	ss3635047609	Oct 12, 2018 (152)
99	ILLUMINA	ss3635047610	Oct 12, 2018 (152)
100	ILLUMINA	ss3635812287	Oct 12, 2018 (152)
101	ILLUMINA	ss3636763143	Oct 12, 2018 (152)
102	ILLUMINA	ss3637565013	Oct 12, 2018 (152)
103	ILLUMINA	ss3638611132	Oct 12, 2018 (152)
104	ILLUMINA	ss3639308626	Oct 12, 2018 (152)
105	ILLUMINA	ss3639679403	Oct 12, 2018 (152)
106	ILLUMINA	ss3640754905	Oct 12, 2018 (152)
107	ILLUMINA	ss3640754906	Oct 12, 2018 (152)
108	ILLUMINA	ss3641192290	Oct 12, 2018 (152)
109	ILLUMINA	ss3641489410	Oct 12, 2018 (152)
110	ILLUMINA	ss3643552617	Oct 12, 2018 (152)
111	ILLUMINA	ss3644902078	Oct 12, 2018 (152)
112	URBANLAB	ss3648284840	Oct 12, 2018 (152)
113	ILLUMINA	ss3653090563	Oct 12, 2018 (152)
114	ILLUMINA	ss3653090564	Oct 12, 2018 (152)
115	ILLUMINA	ss3653090565	Oct 12, 2018 (152)
116	ILLUMINA	ss3654123642	Oct 12, 2018 (152)
117	EGCUT_WGS	ss3666561838	Jul 13, 2019 (153)
118	EVA_DECODE	ss3716726364	Jul 13, 2019 (153)
119	ILLUMINA	ss3726316329	Jul 13, 2019 (153)
120	ACPOP	ss3733268314	Jul 13, 2019 (153)
121	ILLUMINA	ss3744546390	Jul 13, 2019 (153)
122	ILLUMINA	ss3745347710	Jul 13, 2019 (153)
123	ILLUMINA	ss3745347711	Jul 13, 2019 (153)
124	EVA	ss3764700039	Jul 13, 2019 (153)
125	PAGE_CC	ss3771267274	Jul 13, 2019 (153)
126	ILLUMINA	ss3772841480	Jul 13, 2019 (153)
127	ILLUMINA	ss3772841481	Jul 13, 2019 (153)
128	KHV_HUMAN_GENOMES	ss3807862852	Jul 13, 2019 (153)
129	EVA	ss3829771401	Apr 26, 2020 (154)
130	EVA	ss3838361714	Apr 26, 2020 (154)
131	EVA	ss3843802330	Apr 26, 2020 (154)
132	HGDP	ss3847825843	Apr 26, 2020 (154)
133	SGDP_PRJ	ss3864062337	Apr 26, 2020 (154)
134	KRGDB	ss3910821484	Apr 26, 2020 (154)
135	KOGIC	ss3958639025	Apr 26, 2020 (154)
136	EVA	ss3984562681	Apr 26, 2021 (155)
137	EVA	ss3985204694	Apr 26, 2021 (155)
138	TOPMED	ss4695942283	Apr 26, 2021 (155)
139	TOMMO_GENOMICS	ss5176472440	Apr 26, 2021 (155)
140	EVA	ss5237389730	Apr 26, 2021 (155)
141	1000G_HIGH_COVERAGE	ss5267647941	Oct 13, 2022 (156)
142	EVA	ss5315127957	Oct 13, 2022 (156)
143	EVA	ss5364247962	Oct 13, 2022 (156)
144	HUGCELL_USP	ss5465418373	Oct 13, 2022 (156)
145	EVA	ss5508371545	Oct 13, 2022 (156)
146	1000G_HIGH_COVERAGE	ss5553184343	Oct 13, 2022 (156)
147	SANFORD_IMAGENETICS	ss5624617108	Oct 13, 2022 (156)
148	SANFORD_IMAGENETICS	ss5639908579	Oct 13, 2022 (156)
149	TOMMO_GENOMICS	ss5714227456	Oct 13, 2022 (156)
150	EVA	ss5799678501	Oct 13, 2022 (156)
151	YY_MCH	ss5807212246	Oct 13, 2022 (156)
152	EVA	ss5841890895	Oct 13, 2022 (156)
153	EVA	ss5847285613	Oct 13, 2022 (156)
154	EVA	ss5855234429	Oct 13, 2022 (156)
155	EVA	ss5882935838	Oct 13, 2022 (156)
156	EVA	ss5968413008	Oct 13, 2022 (156)
157	EVA	ss5979772695	Oct 13, 2022 (156)
158	1000Genomes	NC_000006.11 - 20679709	Oct 12, 2018 (152)
159	1000Genomes_30x	NC_000006.12 - 20679478	Oct 13, 2022 (156)
160	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 20679709	Oct 12, 2018 (152)
161	Chileans	NC_000006.11 - 20679709	Apr 26, 2020 (154)
162	Genome-wide autozygosity in Daghestan	NC_000006.10 - 20787688	Apr 26, 2020 (154)
163	Genetic variation in the Estonian population	NC_000006.11 - 20679709	Oct 12, 2018 (152)
164	The Danish reference pan genome	NC_000006.11 - 20679709	Apr 26, 2020 (154)
165	gnomAD - Genomes	NC_000006.12 - 20679478	Apr 26, 2021 (155)
166	Genome of the Netherlands Release 5	NC_000006.11 - 20679709	Apr 26, 2020 (154)
167	HGDP-CEPH-db Supplement 1	NC_000006.10 - 20787688	Apr 26, 2020 (154)
168	HapMap	NC_000006.12 - 20679478	Apr 26, 2020 (154)
169	KOREAN population from KRGDB	NC_000006.11 - 20679709	Apr 26, 2020 (154)
170	Korean Genome Project	NC_000006.12 - 20679478	Apr 26, 2020 (154)
171	Northern Sweden	NC_000006.11 - 20679709	Jul 13, 2019 (153)
172	The PAGE Study	NC_000006.12 - 20679478	Jul 13, 2019 (153)
173	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000006.11 - 20679709	Apr 26, 2021 (155)
174	CNV burdens in cranial meningiomas	NC_000006.11 - 20679709	Apr 26, 2021 (155)
175	Qatari	NC_000006.11 - 20679709	Apr 26, 2020 (154)
176	SGDP_PRJ	NC_000006.11 - 20679709	Apr 26, 2020 (154)
177	Siberian	NC_000006.11 - 20679709	Apr 26, 2020 (154)
178	8.3KJPN	NC_000006.11 - 20679709	Apr 26, 2021 (155)
179	14KJPN	NC_000006.12 - 20679478	Oct 13, 2022 (156)
180	TopMed	NC_000006.12 - 20679478	Apr 26, 2021 (155)
181	UK 10K study - Twins	NC_000006.11 - 20679709	Oct 12, 2018 (152)
182	A Vietnamese Genetic Variation Database	NC_000006.11 - 20679709	Jul 13, 2019 (153)
183	ALFA	NC_000006.12 - 20679478	Apr 26, 2021 (155)
184	ClinVar	RCV000001038.5	Oct 12, 2018 (152)

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)
rs52806824	Sep 21, 2007 (128)
rs60638889	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss78919847, ss83357035, ss85399731, ss3639308626, ss3639679403	NC_000006.9:20787687:A:G	NC_000006.12:20679477:A:G	(self)
418276, 503735, ss109811400, ss113998626, ss116341607, ss163226085, ss201506092, ss278679364, ss293803572, ss481665368, ss825599462, ss1397443595, ss1592210259, ss1712841745, ss2094949388, ss2635154502, ss3643552617, ss3847825843	NC_000006.10:20787687:A:G	NC_000006.12:20679477:A:G	(self)
31000702, 17270069, 373389, 12300086, 7726785, 7662321, 17998878, 6553179, 430621, 112059, 7956653, 16079317, 4258191, 34441747, 17270069, 3822765, ss222248713, ss233352371, ss240430558, ss481696072, ss482663107, ss485627317, ss491378239, ss537510301, ss559052976, ss652961799, ss778985066, ss780686763, ss783259271, ss783360295, ss784212737, ss832520162, ss833131024, ss834447261, ss982659378, ss1073436711, ss1319246505, ss1430660547, ss1581561846, ss1615100711, ss1658094744, ss1752618839, ss1752618840, ss1804312138, ss1917799735, ss1925914723, ss1946169009, ss1958868968, ss1970328903, ss2023576691, ss2095171155, ss2095171156, ss2151741837, ss2626276467, ss2634409714, ss2707329804, ss2711061768, ss2836559767, ss2985355490, ss2985984914, ss2998630612, ss3022581323, ss3346870402, ss3629460333, ss3629460334, ss3632329482, ss3633408927, ss3634131023, ss3635047609, ss3635047610, ss3635812287, ss3636763143, ss3637565013, ss3638611132, ss3640754905, ss3640754906, ss3641192290, ss3641489410, ss3644902078, ss3653090563, ss3653090564, ss3653090565, ss3654123642, ss3666561838, ss3733268314, ss3744546390, ss3745347710, ss3745347711, ss3764700039, ss3772841480, ss3772841481, ss3829771401, ss3838361714, ss3864062337, ss3910821484, ss3984562681, ss3985204694, ss5176472440, ss5237389730, ss5315127957, ss5364247962, ss5508371545, ss5624617108, ss5639908579, ss5799678501, ss5841890895, ss5847285613, ss5968413008, ss5979772695	NC_000006.11:20679708:A:G	NC_000006.12:20679477:A:G	(self)
RCV000001038.5, 40710278, 219062304, 3077391, 15017026, 488743, 48064560, 533319841, 8458158127, ss2282349885, ss3025574164, ss3648284840, ss3716726364, ss3726316329, ss3771267274, ss3807862852, ss3843802330, ss3958639025, ss4695942283, ss5267647941, ss5465418373, ss5553184343, ss5714227456, ss5807212246, ss5855234429, ss5882935838	NC_000006.12:20679477:A:G	NC_000006.12:20679477:A:G	(self)
ss11805500, ss19684283, ss22440661	NT_007592.13:11537959:A:G	NC_000006.12:20679477:A:G	(self)
ss44686776, ss65847293, ss66788266, ss67826924, ss67988873, ss70947945, ss71553400, ss74846931, ss75774485, ss76754791, ss79268944, ss84719759, ss98478752, ss122827989, ss143846748, ss154445231, ss156613974, ss159620101, ss160911387, ss172342826, ss174532704, ss410951749, ss411632250	NT_007592.15:20619708:A:G	NC_000006.12:20679477:A:G	(self)
17998878, ss3910821484	NC_000006.11:20679708:A:T	NC_000006.12:20679477:A:T	(self)
8458158127	NC_000006.12:20679477:A:T	NC_000006.12:20679477:A:T	(self)

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

97 citations for rs7756992

PMID	Title	Author	Year	Journal
17460697	A variant in CDKAL1 influences insulin response and risk of type 2 diabetes.	Steinthorsdottir V et al.	2007	Nature genetics
17786212	Heterogeneity in meta-analyses of genome-wide association investigations.	Ioannidis JP et al.	2007	PloS one
17928989	Variations in the HHEX gene are associated with increased risk of type 2 diabetes in the Japanese population.	Horikoshi M et al.	2007	Diabetologia
18162508	Association of CDKAL1, IGF2BP2, CDKN2A/B, HHEX, SLC30A8, and KCNJ11 with susceptibility to type 2 diabetes in a Japanese population.	Omori S et al.	2008	Diabetes
18210030	Analysis of novel risk loci for type 2 diabetes in a general French population: the D.E.S.I.R. study.	Cauchi S et al.	2008	Journal of molecular medicine (Berlin, Germany)
18426861	Association analysis of type 2 diabetes Loci in type 1 diabetes.	Qu HQ et al.	2008	Diabetes
18437351	Genetic analysis of recently identified type 2 diabetes loci in 1,638 unselected patients with type 2 diabetes and 1,858 control participants from a Norwegian population-based cohort (the HUNT study).	Hertel JK et al.	2008	Diabetologia
18461161	Post genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive value.	Cauchi S et al.	2008	PloS one
18469204	Implication of genetic variants near TCF7L2, SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, and FTO in type 2 diabetes and obesity in 6,719 Asians.	Ng MC et al.	2008	Diabetes
18477659	Replication of genome-wide association studies of type 2 diabetes susceptibility in Japan.	Horikawa Y et al.	2008	The Journal of clinical endocrinology and metabolism
18633108	Common variants in CDKAL1, CDKN2A/B, IGF2BP2, SLC30A8, and HHEX/IDE genes are associated with type 2 diabetes and impaired fasting glucose in a Chinese Han population.	Wu Y et al.	2008	Diabetes
18835935	Genome-wide linkage scan in Gullah-speaking African American families with type 2 diabetes: the Sea Islands Genetic African American Registry (Project SuGAR).	Sale MM et al.	2009	Diabetes
19002430	Type 2 diabetes-associated genetic variants discovered in the recent genome-wide association studies are related to gestational diabetes mellitus in the Korean population.	Cho YM et al.	2009	Diabetologia
19008344	Association analysis of variation in/near FTO, CDKAL1, SLC30A8, HHEX, EXT2, IGF2BP2, LOC387761, and CDKN2B with type 2 diabetes and related quantitative traits in Pima Indians.	Rong R et al.	2009	Diabetes
19033397	Replication study of candidate genes associated with type 2 diabetes based on genome-wide screening.	Tabara Y et al.	2009	Diabetes
19279076	Genetic predisposition, Western dietary pattern, and the risk of type 2 diabetes in men.	Qi L et al.	2009	The American journal of clinical nutrition
19401414	Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population.	Takeuchi F et al.	2009	Diabetes
19455305	No association of multiple type 2 diabetes loci with type 1 diabetes.	Raj SM et al.	2009	Diabetologia
19474294	Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.	Hindorff LA et al.	2009	Proceedings of the National Academy of Sciences of the United States of America
19592620	Examination of type 2 diabetes loci implicates CDKAL1 as a birth weight gene.	Zhao J et al.	2009	Diabetes
19718565	Genetic variants of cyclin-dependent kinase 5 regulatory subunit associated protein 1-like 1 and transcription factor 7-like 2 are not associated with polycystic ovary syndrome in Chinese women.	Liu X et al.	2010	Gynecological endocrinology
19741166	Common genetic determinants of glucose homeostasis in healthy children: the European Youth Heart Study.	Kelliny C et al.	2009	Diabetes
19750184	Genome-wide association studies for atherosclerotic vascular disease and its risk factors.	Ding K et al.	2009	Circulation. Cardiovascular genetics
19862325	PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population.	Hu C et al.	2009	PloS one
19933996	Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI.	Zhao J et al.	2010	Diabetes
20043145	Improvements in glucose homeostasis in response to regular exercise are influenced by the PPARG Pro12Ala variant: results from the HERITAGE Family Study.	Ruchat SM et al.	2010	Diabetologia
20080751	Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3.	Ragvin A et al.	2010	Proceedings of the National Academy of Sciences of the United States of America
20203524	Genetic susceptibility to type 2 diabetes is associated with reduced prostate cancer risk.	Pierce BL et al.	2010	Human heredity
20490451	Type 2 diabetes risk alleles near ADCY5, CDKAL1 and HHEX-IDE are associated with reduced birthweight.	Andersson EA et al.	2010	Diabetologia
20580033	Replication of recently described type 2 diabetes gene variants in a South Indian population.	Chidambaram M et al.	2010	Metabolism
21103332	Combined effects of 19 common variations on type 2 diabetes in Chinese: results from two community-based studies.	Xu M et al.	2010	PloS one
21278902	Genetic risk profiling for prediction of type 2 diabetes.	Mihaescu R et al.	2011	PLoS currents
21297524	The 1p13.3 LDL (C)-associated locus shows large effect sizes in young populations.	Devaney JM et al.	2011	Pediatric research
21368910	Heterogeneity of genetic associations of CDKAL1 and HHEX with susceptibility of type 2 diabetes mellitus by gender.	Ryoo H et al.	2011	European journal of human genetics
21416855	[Relationship of the CDKAL1 and KCNQ1 gene polymorphisms to the age at diagnosis of type 2 diabetes in the Slovakian population].	Dobríková M et al.	2011	Vnitrni lekarstvi
21444075	Type 2 diabetes susceptibility single-nucleotide polymorphisms are not associated with polycystic ovary syndrome.	Ewens KG et al.	2011	Fertility and sterility
21611789	The carriage of risk variants of CDKAL1 impairs beta-cell function in both diabetic and non-diabetic patients and reduces response to non-sulfonylurea and sulfonylurea agonists of the pancreatic KATP channel.	Chistiakov DA et al.	2011	Acta diabetologica
22052079	Association analysis of 31 common polymorphisms with type 2 diabetes and its related traits in Indian sib pairs.	Gupta V et al.	2012	Diabetologia
22119613	Replication study of common variants in CDKAL1 and CDKN2A/2B genes associated with type 2 diabetes in Lebanese Arab population.	Nemr R et al.	2012	Diabetes research and clinical practice
22233651	A genome-wide association study of gestational diabetes mellitus in Korean women.	Kwak SH et al.	2012	Diabetes
22292718	Variation in CDKAL1 gene is associated with therapeutic response to sulphonylureas.	Schroner Z et al.	2012	Physiological research
22333905	Estimating the contribution of genetic variants to difference in incidence of disease between population groups.	Moonesinghe R et al.	2012	European journal of human genetics
22708638	Effect of communicating genetic and phenotypic risk for type 2 diabetes in combination with lifestyle advice on objectively measured physical activity: protocol of a randomised controlled trial.	Godino JG et al.	2012	BMC public health
22923468	Contribution of common genetic variation to the risk of type 2 diabetes in the Mexican Mestizo population.	Gamboa-Meléndez MA et al.	2012	Diabetes
23185337	Joint effect of genetic and lifestyle risk factors on type 2 diabetes risk among Chinese men and women.	Villegas R et al.	2012	PloS one
23185617	Genetic variant SLC2A2 [corrected] Is associated with risk of cardiovascular disease – assessing the individual and cumulative effect of 46 type 2 diabetes related genetic variants.	Borglykke A et al.	2012	PloS one
23349771	Association study of 25 type 2 diabetes related Loci with measures of obesity in Indian sib pairs.	Gupta V et al.	2013	PloS one
24012816	The relationship between five widely-evaluated variants in CDKN2A/B and CDKAL1 genes and the risk of type 2 diabetes: a meta-analysis.	Peng F et al.	2013	Gene
24185407	CDKAL1 gene rs7756992 A/G polymorphism and type 2 diabetes mellitus: a meta-analysis of 62,567 subjects.	Li YY et al.	2013	Scientific reports
24636221	Contribution of CDKAL1 rs7756992 and IGF2BP2 rs4402960 polymorphisms in type 2 diabetes, diabetic complications, obesity risk and hypertension in the Tunisian population.	Lasram K et al.	2015	Journal of diabetes
24637646	Cross-sectional and longitudinal replication analyses of genome-wide association loci of type 2 diabetes in Han Chinese.	Zhao Q et al.	2014	PloS one
24653947	Cumulative Effect of Common Genetic Variants Predicts Incident Type 2 Diabetes: A Study of 21,183 Subjects from Three Large Prospective Cohorts.	Yang J et al.	2011	Epidemiology (Sunnyvale, Calif.)
24760768	Identification of a splicing variant that regulates type 2 diabetes risk factor CDKAL1 level by a coding-independent mechanism in human.	Zhou B et al.	2014	Human molecular genetics
24845081	Gene-lifestyle interaction and type 2 diabetes: the EPIC interact case-cohort study.	Langenberg C et al.	2014	PLoS medicine
24898818	Association analysis of IGF2BP2, KCNJ11, and CDKAL1 polymorphisms with type 2 diabetes mellitus in a Moroccan population: a case-control study and meta-analysis.	Benrahma H et al.	2014	Biochemical genetics
24906951	Type 2 diabetes susceptibility gene variants predispose to adult-onset autoimmune diabetes.	Andersen MK et al.	2014	Diabetologia
24935819	Exploring genetic variants predisposing to diabetes mellitus and their association with indicators of socioeconomic status.	Schmidt B et al.	2014	BMC public health
25145545	Does genetic heterogeneity account for the divergent risk of type 2 diabetes in South Asian and white European populations?	Sohani ZN et al.	2014	Diabetologia
25288178	The association between the rs6495309 polymorphism in CHRNA3 gene and lung cancer risk in Chinese: a meta-analysis.	Xiao M et al.	2014	Scientific reports
25587982	Cumulative effect and predictive value of genetic variants associated with type 2 diabetes in Han Chinese: a case-control study.	Qian Y et al.	2015	PloS one
25634229	A cautionary tale: the non-causal association between type 2 diabetes risk SNP, rs7756992, and levels of non-coding RNA, CDKAL1-v1.	Locke JM et al.	2015	Diabetologia
25658847	Do variants associated with susceptibility to pancreatic cancer and type 2 diabetes reciprocally affect risk?	Wu L et al.	2015	PloS one
25723968	Identification of Genetic Variants of Gestational Diabetes in South Indians.	Kanthimathi S et al.	2015	Diabetes technology & therapeutics
25774817	Genetics of type 2 diabetes-pitfalls and possibilities.	Prasad RB et al.	2015	Genes
26042206	Gene-gene and gene-environment interactions in the etiology of type 2 diabetes mellitus in the population of Hyderabad, India.	Uma Jyothi K et al.	2015	Meta gene
26168825	Positive Association Between Type 2 Diabetes Risk Alleles Near CDKAL1 and Reduced Birthweight in Chinese Han Individuals.	Sun XF et al.	2015	Chinese medical journal
26240488	Utilizing Genetic Predisposition Score in Predicting Risk of Type 2 Diabetes Mellitus Incidence: A Community-based Cohort Study on Middle-aged Koreans.	Park HY et al.	2015	Journal of Korean medical science
26648684	Update on genetics and diabetic retinopathy.	Hampton BM et al.	2015	Clinical ophthalmology (Auckland, N.Z.)
26806836	Genetic and clinical variables identify predictors for chronic kidney disease in type 2 diabetes.	Jiang G et al.	2016	Kidney international
26873362	Gene Polymorphism Association with Type 2 Diabetes and Related Gene-Gene and Gene-Environment Interactions in a Uyghur Population.	Xiao S et al.	2016	Medical science monitor
26961502	Variants in the FTO and CDKAL1 loci have recessive effects on risk of obesity and type 2 diabetes, respectively.	Wood AR et al.	2016	Diabetologia
26983698	Joint effects of diabetic-related genomic loci on the therapeutic efficacy of oral anti-diabetic drugs in Chinese type 2 diabetes patients.	Chen M et al.	2016	Scientific reports
27139004	A Common Susceptibility Gene for Type 2 Diabetes Is Associated with Drug Response to a DPP-4 Inhibitor: Pharmacogenomic Cohort in Okinawa Japan.	Osada UN et al.	2016	PloS one
27275426	The association analysis polymorphism of CDKAL1 and diabetic retinopathy in Chinese Han population.	Liu NJ et al.	2016	International journal of ophthalmology
27281091	Genetic variants associated with lean and obese type 2 diabetes in a Han Chinese population: A case-control study.	Kong X et al.	2016	Medicine
27294943	Association between IGF2BP2 Polymorphisms and Type 2 Diabetes Mellitus: A Case-Control Study and Meta-Analysis.	Rao P et al.	2016	International journal of environmental research and public health
27377502	Association of CDKAL1, CDKN2A/B & HHEX gene polymorphisms with type 2 diabetes mellitus in the population of Hyderabad, India.	Kommoju UJ et al.	2016	The Indian journal of medical research
27383215	Type 2 Diabetes Risk Allele Loci in the Qatari Population.	O'Beirne SL et al.	2016	PloS one
27424552	Genomics era and complex disorders: Implications of GWAS with special reference to coronary artery disease, type 2 diabetes mellitus, and cancers.	Pranavchand R et al.	2016	Journal of postgraduate medicine
27588103	IGF2BP2 rs11705701 polymorphisms are associated with prediabetes in a Chinese population: A population-based case-control study.	Han L et al.	2016	Experimental and therapeutic medicine
27589775	Validation of Type 2 Diabetes Risk Variants Identified by Genome-Wide Association Studies in Northern Han Chinese.	Rao P et al.	2016	International journal of environmental research and public health
28717589	Association of polymorphic markers of genes FTO, KCNJ11, CDKAL1, SLC30A8, and CDKN2B with type 2 diabetes mellitus in the Russian population.	Nikitin AG et al.	2017	PeerJ
28738793	Association between 28 single nucleotide polymorphisms and type 2 diabetes mellitus in the Kazakh population: a case-control study.	Sikhayeva N et al.	2017	BMC medical genetics
28821857	CDKAL1 rs7756992 is associated with diabetic retinopathy in a Chinese population with type 2 diabetes.	Peng D et al.	2017	Scientific reports
29372795	[The analysis of association between type 2 diabetes and polymorphic markers in the CDKAL1 gene and in the HHEX/IDE locus].	Khodyrev DS et al.	2016	Genetika
29871606	Impact of KCNQ1, CDKN2A/2B, CDKAL1, HHEX, MTNR1B, SLC30A8, TCF7L2, and UBE2E2 on risk of developing type 2 diabetes in Thai population.	Plengvidhya N et al.	2018	BMC medical genetics
30074174	Meta-analysis of GABRB3 Gene Polymorphisms and Susceptibility to Autism Spectrum Disorder.	Noroozi R et al.	2018	Journal of molecular neuroscience
30647622	Common variants in TCF7L2 and CDKAL1 genes and risk of type 2 diabetes mellitus in Egyptians.	El-Lebedy D et al.	2016	Journal, genetic engineering & biotechnology
32722593	Coffee Consumption, Genetic Polymorphisms, and the Risk of Type 2 Diabetes Mellitus: A Pooled Analysis of Four Prospective Cohort Studies.	Kim AN et al.	2020	International journal of environmental research and public health
32764395	Dietary Protein and Fat Intake Affects Diabetes Risk with CDKAL1 Genetic Variants in Korean Adults.	Choi WJ et al.	2020	International journal of molecular sciences
33965365	The risk variant of CDKAL1 (rs7756992) impairs fasting glucose levels and insulin resistance improvements after a partial meal-replacement hypocaloric diet.	Izaola-Jáuregui O et al.	2021	Endocrinologia, diabetes y nutricion
34131278	Genetic polymorphisms associated with obesity in the Arab world: a systematic review.	Younes S et al.	2021	International journal of obesity (2005)
34178825	Polymorphic genetic markers and how they are associated with clinical and metabolic indicators of type 2 diabetes mellitus in the Kazakh population.	Benberin VV et al.	2021	Journal of diabetes and metabolic disorders
34665019	Pharmacogenetics of sulfonylurea-induced hypoglycemia in Type 2 diabetes patients: the SUCLINGEN study.	Loganadan NK et al.	2021	Pharmacogenomics
34721291	CDK5 Regulatory Subunit-Associated Protein 1-Like 1 Gene Polymorphisms and Gestational Diabetes Mellitus Risk: A Trial Sequential Meta-Analysis of 13,306 Subjects.	Yu XY et al.	2021	Frontiers in endocrinology
34803393	Pharmacogenomics and Personalized Medicine in Type 2 Diabetes Mellitus: Potential Implications for Clinical Practice.	Venkatachalapathy P et al.	2021	Pharmacogenomics and personalized medicine
35090536	CDKAL1 gene rs7756992 A/G and rs7754840 G/C polymorphisms are associated with gestational diabetes mellitus in a sample of Bangladeshi population: implication for future T2DM prophylaxis.	Amin USM et al.	2022	Diabetology & metabolic syndrome

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
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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.
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

rs7756992