Name: rs2296241
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.

rs2296241

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:54169680 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: G>A
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.469989 (175818/374090, ALFA)
G=0.495584 (131176/264690, TOPMED)
A=0.490898 (123351/251276, GnomAD_exome) (+ 25 more)
G=0.486626 (68114/139972, GnomAD)
A=0.492355 (59699/121252, ExAC)
A=0.47954 (37738/78696, PAGE_STUDY)
A=0.46146 (13040/28258, 14KJPN)
A=0.45931 (7698/16760, 8.3KJPN)
G=0.47570 (6187/13006, GO-ESP)
A=0.4538 (2906/6404, 1000G_30x)
A=0.4581 (2294/5008, 1000G)
G=0.4835 (2166/4480, Estonian)
G=0.4785 (1844/3854, ALSPAC)
G=0.4617 (1712/3708, TWINSUK)
A=0.4000 (1172/2930, KOREAN)
G=0.4937 (934/1892, HapMap)
G=0.476 (475/998, GoNL)
A=0.439 (275/626, Chileans)
A=0.405 (247/610, Vietnamese)
G=0.487 (292/600, NorthernSweden)
G=0.451 (241/534, MGP)
G=0.350 (144/412, SGDP_PRJ)
G=0.497 (173/348, PharmGKB)
G=0.431 (131/304, FINRISK)
G=0.389 (84/216, Qatari)
A=0.46 (42/92, Ancient Sardinia)
G=0.29 (14/48, Siberian)
G=0.35 (14/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: CYP24A1 : Synonymous Variant
Publications: 34 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	395570	G=0.470503	A=0.529497
European	Sub	333148	G=0.463536	A=0.536464
African	Sub	17944	G=0.49448	A=0.50552
African Others	Sub	660	G=0.511	A=0.489
African American	Sub	17284	G=0.49387	A=0.50613
Asian	Sub	7024	G=0.5826	A=0.4174
East Asian	Sub	5026	G=0.5943	A=0.4057
Other Asian	Sub	1998	G=0.5531	A=0.4469
Latin American 1	Sub	1574	G=0.4835	A=0.5165
Latin American 2	Sub	5338	G=0.5757	A=0.4243
South Asian	Sub	5236	G=0.5416	A=0.4584
Other	Sub	25306	G=0.47641	A=0.52359

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	374090	G=0.469989	A=0.530011
Allele Frequency Aggregator	European	Sub	319888	G=0.463353	A=0.536647
Allele Frequency Aggregator	Other	Sub	23060	G=0.47459	A=0.52541
Allele Frequency Aggregator	African	Sub	11970	G=0.49215	A=0.50785
Allele Frequency Aggregator	Asian	Sub	7024	G=0.5826	A=0.4174
Allele Frequency Aggregator	Latin American 2	Sub	5338	G=0.5757	A=0.4243
Allele Frequency Aggregator	South Asian	Sub	5236	G=0.5416	A=0.4584
Allele Frequency Aggregator	Latin American 1	Sub	1574	G=0.4835	A=0.5165
TopMed	Global	Study-wide	264690	G=0.495584	A=0.504416
gnomAD - Exomes	Global	Study-wide	251276	G=0.509102	A=0.490898
gnomAD - Exomes	European	Sub	135250	G=0.473567	A=0.526433
gnomAD - Exomes	Asian	Sub	48992	G=0.56826	A=0.43174
gnomAD - Exomes	American	Sub	34580	G=0.61131	A=0.38869
gnomAD - Exomes	African	Sub	16240	G=0.50345	A=0.49655
gnomAD - Exomes	Ashkenazi Jewish	Sub	10078	G=0.37815	A=0.62185
gnomAD - Exomes	Other	Sub	6136	G=0.4741	A=0.5259
gnomAD - Genomes	Global	Study-wide	139972	G=0.486626	A=0.513374
gnomAD - Genomes	European	Sub	75834	G=0.47109	A=0.52891
gnomAD - Genomes	African	Sub	41920	G=0.49952	A=0.50048
gnomAD - Genomes	American	Sub	13638	G=0.53476	A=0.46524
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	G=0.3716	A=0.6284
gnomAD - Genomes	East Asian	Sub	3122	G=0.5951	A=0.4049
gnomAD - Genomes	Other	Sub	2140	G=0.4977	A=0.5023
ExAC	Global	Study-wide	121252	G=0.507645	A=0.492355
ExAC	Europe	Sub	73278	G=0.47174	A=0.52826
ExAC	Asian	Sub	25128	G=0.56375	A=0.43625
ExAC	American	Sub	11568	G=0.62111	A=0.37889
ExAC	African	Sub	10374	G=0.50116	A=0.49884
ExAC	Other	Sub	904	G=0.481	A=0.519
The PAGE Study	Global	Study-wide	78696	G=0.52046	A=0.47954
The PAGE Study	AfricanAmerican	Sub	32516	G=0.49643	A=0.50357
The PAGE Study	Mexican	Sub	10810	G=0.60167	A=0.39833
The PAGE Study	Asian	Sub	8316	G=0.5539	A=0.4461
The PAGE Study	PuertoRican	Sub	7918	G=0.5344	A=0.4656
The PAGE Study	NativeHawaiian	Sub	4534	G=0.4272	A=0.5728
The PAGE Study	Cuban	Sub	4228	G=0.4886	A=0.5114
The PAGE Study	Dominican	Sub	3828	G=0.4794	A=0.5206
The PAGE Study	CentralAmerican	Sub	2450	G=0.5902	A=0.4098
The PAGE Study	SouthAmerican	Sub	1982	G=0.5247	A=0.4753
The PAGE Study	NativeAmerican	Sub	1260	G=0.5246	A=0.4754
The PAGE Study	SouthAsian	Sub	854	G=0.574	A=0.426
14KJPN	JAPANESE	Study-wide	28258	G=0.53854	A=0.46146
8.3KJPN	JAPANESE	Study-wide	16760	G=0.54069	A=0.45931
GO Exome Sequencing Project	Global	Study-wide	13006	G=0.47570	A=0.52430
GO Exome Sequencing Project	European American	Sub	8600	G=0.4610	A=0.5390
GO Exome Sequencing Project	African American	Sub	4406	G=0.5043	A=0.4957
1000Genomes_30x	Global	Study-wide	6404	G=0.5462	A=0.4538
1000Genomes_30x	African	Sub	1786	G=0.5146	A=0.4854
1000Genomes_30x	Europe	Sub	1266	G=0.4731	A=0.5269
1000Genomes_30x	South Asian	Sub	1202	G=0.5940	A=0.4060
1000Genomes_30x	East Asian	Sub	1170	G=0.6000	A=0.4000
1000Genomes_30x	American	Sub	980	G=0.576	A=0.424
1000Genomes	Global	Study-wide	5008	G=0.5419	A=0.4581
1000Genomes	African	Sub	1322	G=0.5083	A=0.4917
1000Genomes	East Asian	Sub	1008	G=0.5942	A=0.4058
1000Genomes	Europe	Sub	1006	G=0.4672	A=0.5328
1000Genomes	South Asian	Sub	978	G=0.585	A=0.415
1000Genomes	American	Sub	694	G=0.578	A=0.422
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.4835	A=0.5165
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.4785	A=0.5215
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.4617	A=0.5383
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.6000	A=0.4000
HapMap	Global	Study-wide	1892	G=0.4937	A=0.5063
HapMap	American	Sub	770	G=0.544	A=0.456
HapMap	African	Sub	692	G=0.426	A=0.574
HapMap	Asian	Sub	254	G=0.579	A=0.421
HapMap	Europe	Sub	176	G=0.415	A=0.585
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.476	A=0.524
Chileans	Chilean	Study-wide	626	G=0.561	A=0.439
A Vietnamese Genetic Variation Database	Global	Study-wide	610	G=0.595	A=0.405
Northern Sweden	ACPOP	Study-wide	600	G=0.487	A=0.513
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.451	A=0.549
SGDP_PRJ	Global	Study-wide	412	G=0.350	A=0.650
PharmGKB Aggregated	Global	Study-wide	348	G=0.497	A=0.503
PharmGKB Aggregated	PA149714322	Sub	348	G=0.497	A=0.503
FINRISK	Finnish from FINRISK project	Study-wide	304	G=0.431	A=0.569
Qatari	Global	Study-wide	216	G=0.389	A=0.611
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	92	G=0.54	A=0.46
Siberian	Global	Study-wide	48	G=0.29	A=0.71
The Danish reference pan genome	Danish	Study-wide	40	G=0.35	A=0.65

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 20	NC_000020.11:g.54169680G>A
GRCh37.p13 chr 20	NC_000020.10:g.52786219G>A
CYP24A1 RefSeqGene	NG_008334.1:g.9298C>T

Gene: CYP24A1, cytochrome P450 family 24 subfamily A member 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CYP24A1 transcript variant 1	NM_000782.5:c.552C>T	A [GCC] > A [GCT]	Coding Sequence Variant
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 1 precursor	NP_000773.2:p.Ala184=	A (Ala) > A (Ala)	Synonymous Variant
CYP24A1 transcript variant 2	NM_001128915.2:c.552C>T	A [GCC] > A [GCT]	Coding Sequence Variant
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 2 precursor	NP_001122387.1:p.Ala184=	A (Ala) > A (Ala)	Synonymous Variant
CYP24A1 transcript variant X1	XM_005260304.6:c.552C>T	A [GCC] > A [GCT]	Coding Sequence Variant
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X1	XP_005260361.1:p.Ala184=	A (Ala) > A (Ala)	Synonymous Variant
CYP24A1 transcript variant X2	XM_017027691.3:c.552C>T	A [GCC] > A [GCT]	Coding Sequence Variant
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X1	XP_016883180.1:p.Ala184=	A (Ala) > A (Ala)	Synonymous Variant
CYP24A1 transcript variant X3	XM_017027692.3:c.552C>T	A [GCC] > A [GCT]	Coding Sequence Variant
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X1	XP_016883181.1:p.Ala184=	A (Ala) > A (Ala)	Synonymous Variant
CYP24A1 transcript variant X4	XM_047439936.1:c.552C>T	A [GCC] > A [GCT]	Coding Sequence Variant
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X2	XP_047295892.1:p.Ala184=	A (Ala) > A (Ala)	Synonymous Variant
CYP24A1 transcript variant X5	XM_017027693.3:c.552C>T	A [GCC] > A [GCT]	Coding Sequence Variant
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X2	XP_016883182.1:p.Ala184=	A (Ala) > A (Ala)	Synonymous Variant
CYP24A1 transcript variant X6	XM_047439937.1:c.552C>T	A [GCC] > A [GCT]	Coding Sequence Variant
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X2	XP_047295893.1:p.Ala184=	A (Ala) > A (Ala)	Synonymous Variant
CYP24A1 transcript variant X7	XM_047439938.1:c.552C>T	A [GCC] > A [GCT]	Coding Sequence Variant
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X2	XP_047295894.1:p.Ala184=	A (Ala) > A (Ala)	Synonymous 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: A (allele ID: 350152 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000603458.7	Hypercalcemia, infantile, 1	Benign
RCV000611389.6	not specified	Benign
RCV001516827.8	not provided	Benign

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	G=	A
GRCh38.p14 chr 20	NC_000020.11:g.54169680=	NC_000020.11:g.54169680G>A
GRCh37.p13 chr 20	NC_000020.10:g.52786219=	NC_000020.10:g.52786219G>A
CYP24A1 RefSeqGene	NG_008334.1:g.9298=	NG_008334.1:g.9298C>T
CYP24A1 transcript variant 1	NM_000782.5:c.552=	NM_000782.5:c.552C>T
CYP24A1 transcript variant 1	NM_000782.4:c.552=	NM_000782.4:c.552C>T
CYP24A1 transcript variant 2	NM_001128915.2:c.552=	NM_001128915.2:c.552C>T
CYP24A1 transcript variant 2	NM_001128915.1:c.552=	NM_001128915.1:c.552C>T
CYP24A1 transcript variant X1	XM_005260304.6:c.552=	XM_005260304.6:c.552C>T
CYP24A1 transcript variant X1	XM_005260304.5:c.552=	XM_005260304.5:c.552C>T
CYP24A1 transcript variant X1	XM_005260304.4:c.552=	XM_005260304.4:c.552C>T
CYP24A1 transcript variant X1	XM_005260304.3:c.552=	XM_005260304.3:c.552C>T
CYP24A1 transcript variant X1	XM_005260304.2:c.552=	XM_005260304.2:c.552C>T
CYP24A1 transcript variant X1	XM_005260304.1:c.552=	XM_005260304.1:c.552C>T
CYP24A1 transcript variant X3	XM_017027692.3:c.552=	XM_017027692.3:c.552C>T
CYP24A1 transcript variant X3	XM_017027692.2:c.552=	XM_017027692.2:c.552C>T
CYP24A1 transcript variant X3	XM_017027692.1:c.552=	XM_017027692.1:c.552C>T
CYP24A1 transcript variant X2	XM_017027691.3:c.552=	XM_017027691.3:c.552C>T
CYP24A1 transcript variant X2	XM_017027691.2:c.552=	XM_017027691.2:c.552C>T
CYP24A1 transcript variant X2	XM_017027691.1:c.552=	XM_017027691.1:c.552C>T
CYP24A1 transcript variant X5	XM_017027693.3:c.552=	XM_017027693.3:c.552C>T
CYP24A1 transcript variant X4	XM_017027693.2:c.552=	XM_017027693.2:c.552C>T
CYP24A1 transcript variant X4	XM_017027693.1:c.552=	XM_017027693.1:c.552C>T
CYP24A1 transcript variant X4	XM_047439936.1:c.552=	XM_047439936.1:c.552C>T
CYP24A1 transcript variant X7	XM_047439938.1:c.552=	XM_047439938.1:c.552C>T
CYP24A1 transcript variant X6	XM_047439937.1:c.552=	XM_047439937.1:c.552C>T
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 1 precursor	NP_000773.2:p.Ala184=	NP_000773.2:p.Ala184=
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 2 precursor	NP_001122387.1:p.Ala184=	NP_001122387.1:p.Ala184=
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X1	XP_005260361.1:p.Ala184=	XP_005260361.1:p.Ala184=
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X1	XP_016883181.1:p.Ala184=	XP_016883181.1:p.Ala184=
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X1	XP_016883180.1:p.Ala184=	XP_016883180.1:p.Ala184=
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X2	XP_016883182.1:p.Ala184=	XP_016883182.1:p.Ala184=
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X2	XP_047295892.1:p.Ala184=	XP_047295892.1:p.Ala184=
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X2	XP_047295894.1:p.Ala184=	XP_047295894.1:p.Ala184=
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X2	XP_047295893.1:p.Ala184=	XP_047295893.1:p.Ala184=

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#.

196 SubSNP, 30 Frequency, 3 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss3240279	Sep 28, 2001 (100)
2	SC_SNP	ss8415748	Apr 21, 2003 (114)
3	WI_SSAHASNP	ss12478736	Jul 11, 2003 (116)
4	CSHL-HAPMAP	ss16886091	Feb 27, 2004 (120)
5	PERLEGEN	ss23543807	Sep 20, 2004 (123)
6	ABI	ss44219161	Mar 13, 2006 (126)
7	APPLERA_GI	ss48430444	Mar 13, 2006 (126)
8	PERLEGEN	ss69244933	May 17, 2007 (127)
9	ILLUMINA	ss75109811	Dec 06, 2007 (129)
10	AFFY	ss76819543	Dec 08, 2007 (130)
11	HGSV	ss80878321	Dec 16, 2007 (130)
12	PHARMGKB_AB_DME	ss84156792	Dec 16, 2007 (130)
13	CANCER-GENOME	ss86347760	Mar 23, 2008 (129)
14	BCMHGSC_JDW	ss91729763	Mar 24, 2008 (129)
15	BGI	ss103772297	Dec 01, 2009 (131)
16	SNP500CANCER	ss105439110	Feb 06, 2009 (130)
17	1000GENOMES	ss112121632	Jan 25, 2009 (130)
18	ILLUMINA-UK	ss117580496	Feb 14, 2009 (130)
19	KRIBB_YJKIM	ss119429197	Dec 01, 2009 (131)
20	ENSEMBL	ss138259663	Dec 01, 2009 (131)
21	ILLUMINA	ss153901195	Dec 01, 2009 (131)
22	ILLUMINA	ss159379009	Dec 01, 2009 (131)
23	SEATTLESEQ	ss159742644	Dec 01, 2009 (131)
24	ILLUMINA	ss160532069	Dec 01, 2009 (131)
25	ENSEMBL	ss161331908	Dec 01, 2009 (131)
26	COMPLETE_GENOMICS	ss172156147	Jul 04, 2010 (132)
27	ILLUMINA	ss173267278	Jul 04, 2010 (132)
28	BUSHMAN	ss203919915	Jul 04, 2010 (132)
29	BCM-HGSC-SUB	ss208716524	Jul 04, 2010 (132)
30	1000GENOMES	ss212039076	Jul 14, 2010 (132)
31	1000GENOMES	ss217327745	Jul 14, 2010 (132)
32	1000GENOMES	ss217407914	Jul 14, 2010 (132)
33	1000GENOMES	ss217409474	Jul 14, 2010 (132)
34	1000GENOMES	ss217416183	Jul 14, 2010 (132)
35	1000GENOMES	ss217427839	Jul 14, 2010 (132)
36	1000GENOMES	ss217433234	Jul 14, 2010 (132)
37	1000GENOMES	ss217434574	Jul 14, 2010 (132)
38	1000GENOMES	ss228406017	Jul 14, 2010 (132)
39	1000GENOMES	ss237869685	Jul 15, 2010 (132)
40	1000GENOMES	ss244034108	Jul 15, 2010 (132)
41	ILLUMINA	ss244289628	Jul 04, 2010 (132)
42	GMI	ss283419317	May 04, 2012 (137)
43	GMI	ss287473292	Apr 25, 2013 (138)
44	PJP	ss292582115	May 09, 2011 (134)
45	NHLBI-ESP	ss342525575	May 09, 2011 (134)
46	ILLUMINA	ss410921821	Sep 17, 2011 (135)
47	PAGE_STUDY	ss469996421	May 04, 2012 (137)
48	ILLUMINA	ss480517850	May 04, 2012 (137)
49	ILLUMINA	ss480532050	May 04, 2012 (137)
50	ILLUMINA	ss481342750	Sep 08, 2015 (146)
51	ILLUMINA	ss485056284	May 04, 2012 (137)
52	1000GENOMES	ss491179804	May 04, 2012 (137)
53	EXOME_CHIP	ss491562493	May 04, 2012 (137)
54	CLINSEQ_SNP	ss491811749	May 04, 2012 (137)
55	ILLUMINA	ss537073056	Sep 08, 2015 (146)
56	TISHKOFF	ss566316407	Apr 25, 2013 (138)
57	SSMP	ss662197063	Apr 25, 2013 (138)
58	ILLUMINA	ss778864236	Sep 08, 2015 (146)
59	ILLUMINA	ss780683301	Sep 08, 2015 (146)
60	ILLUMINA	ss782974353	Sep 08, 2015 (146)
61	ILLUMINA	ss783356691	Sep 08, 2015 (146)
62	ILLUMINA	ss783935649	Sep 08, 2015 (146)
63	ILLUMINA	ss832230730	Sep 08, 2015 (146)
64	ILLUMINA	ss832890803	Jul 13, 2019 (153)
65	ILLUMINA	ss834325063	Sep 08, 2015 (146)
66	JMKIDD_LAB	ss974510288	Aug 21, 2014 (142)
67	EVA-GONL	ss994828370	Aug 21, 2014 (142)
68	JMKIDD_LAB	ss1067599403	Aug 21, 2014 (142)
69	JMKIDD_LAB	ss1082281160	Aug 21, 2014 (142)
70	1000GENOMES	ss1365188349	Aug 21, 2014 (142)
71	DDI	ss1429083731	Apr 01, 2015 (144)
72	EVA_GENOME_DK	ss1579546777	Apr 01, 2015 (144)
73	EVA_FINRISK	ss1584123725	Apr 01, 2015 (144)
74	EVA_UK10K_ALSPAC	ss1639003390	Apr 01, 2015 (144)
75	EVA_UK10K_TWINSUK	ss1681997423	Apr 01, 2015 (144)
76	EVA_EXAC	ss1694048363	Apr 01, 2015 (144)
77	EVA_DECODE	ss1698891288	Apr 01, 2015 (144)
78	EVA_MGP	ss1711544719	Apr 01, 2015 (144)
79	EVA_SVP	ss1713702268	Apr 01, 2015 (144)
80	ILLUMINA	ss1752392533	Sep 08, 2015 (146)
81	ILLUMINA	ss1752392534	Sep 08, 2015 (146)
82	HAMMER_LAB	ss1809549076	Sep 08, 2015 (146)
83	ILLUMINA	ss1917948678	Feb 12, 2016 (147)
84	WEILL_CORNELL_DGM	ss1938345644	Feb 12, 2016 (147)
85	ILLUMINA	ss1946555317	Feb 12, 2016 (147)
86	ILLUMINA	ss1946555318	Feb 12, 2016 (147)
87	ILLUMINA	ss1959924969	Feb 12, 2016 (147)
88	ILLUMINA	ss1959924970	Feb 12, 2016 (147)
89	GENOMED	ss1969155127	Jul 19, 2016 (147)
90	JJLAB	ss2029952724	Sep 14, 2016 (149)
91	ILLUMINA	ss2095116470	Dec 20, 2016 (150)
92	USC_VALOUEV	ss2158523943	Dec 20, 2016 (150)
93	HUMAN_LONGEVITY	ss2243611370	Dec 20, 2016 (150)
94	SYSTEMSBIOZJU	ss2629470988	Nov 08, 2017 (151)
95	ILLUMINA	ss2633813140	Nov 08, 2017 (151)
96	ILLUMINA	ss2633813141	Nov 08, 2017 (151)
97	ILLUMINA	ss2633813142	Nov 08, 2017 (151)
98	ILLUMINA	ss2635106787	Nov 08, 2017 (151)
99	GRF	ss2704220118	Nov 08, 2017 (151)
100	ILLUMINA	ss2710942172	Nov 08, 2017 (151)
101	GNOMAD	ss2744685978	Nov 08, 2017 (151)
102	GNOMAD	ss2750406136	Nov 08, 2017 (151)
103	GNOMAD	ss2968604560	Nov 08, 2017 (151)
104	AFFY	ss2985219592	Nov 08, 2017 (151)
105	AFFY	ss2985837202	Nov 08, 2017 (151)
106	SWEGEN	ss3018353106	Nov 08, 2017 (151)
107	ILLUMINA	ss3022129578	Nov 08, 2017 (151)
108	ILLUMINA	ss3022129579	Nov 08, 2017 (151)
109	EVA_SAMSUNG_MC	ss3023073004	Nov 08, 2017 (151)
110	BIOINF_KMB_FNS_UNIBA	ss3028809541	Nov 08, 2017 (151)
111	CSHL	ss3352558881	Nov 08, 2017 (151)
112	ILLUMINA	ss3625789962	Oct 12, 2018 (152)
113	ILLUMINA	ss3628417649	Oct 12, 2018 (152)
114	ILLUMINA	ss3628417650	Oct 12, 2018 (152)
115	ILLUMINA	ss3631768797	Oct 12, 2018 (152)
116	ILLUMINA	ss3633255069	Oct 12, 2018 (152)
117	ILLUMINA	ss3633969420	Oct 12, 2018 (152)
118	ILLUMINA	ss3634841543	Oct 12, 2018 (152)
119	ILLUMINA	ss3634841544	Oct 12, 2018 (152)
120	ILLUMINA	ss3635654418	Oct 12, 2018 (152)
121	ILLUMINA	ss3636535521	Oct 12, 2018 (152)
122	ILLUMINA	ss3637406525	Oct 12, 2018 (152)
123	ILLUMINA	ss3638352499	Oct 12, 2018 (152)
124	ILLUMINA	ss3640548841	Oct 12, 2018 (152)
125	ILLUMINA	ss3640548842	Oct 12, 2018 (152)
126	ILLUMINA	ss3643314770	Oct 12, 2018 (152)
127	ILLUMINA	ss3644785728	Oct 12, 2018 (152)
128	ILLUMINA	ss3644785729	Oct 12, 2018 (152)
129	OMUKHERJEE_ADBS	ss3646551156	Oct 12, 2018 (152)
130	ILLUMINA	ss3652586885	Oct 12, 2018 (152)
131	ILLUMINA	ss3652586886	Oct 12, 2018 (152)
132	ILLUMINA	ss3653987943	Oct 12, 2018 (152)
133	EGCUT_WGS	ss3685036633	Jul 13, 2019 (153)
134	EVA_DECODE	ss3707158715	Jul 13, 2019 (153)
135	ILLUMINA	ss3725924660	Jul 13, 2019 (153)
136	ACPOP	ss3743484034	Jul 13, 2019 (153)
137	ILLUMINA	ss3744199280	Jul 13, 2019 (153)
138	ILLUMINA	ss3744495277	Jul 13, 2019 (153)
139	ILLUMINA	ss3745141434	Jul 13, 2019 (153)
140	ILLUMINA	ss3745141435	Jul 13, 2019 (153)
141	EVA	ss3758773257	Jul 13, 2019 (153)
142	PAGE_CC	ss3772055480	Jul 13, 2019 (153)
143	ILLUMINA	ss3772637585	Jul 13, 2019 (153)
144	ILLUMINA	ss3772637586	Jul 13, 2019 (153)
145	PACBIO	ss3788676153	Jul 13, 2019 (153)
146	PACBIO	ss3793562433	Jul 13, 2019 (153)
147	PACBIO	ss3798449751	Jul 13, 2019 (153)
148	KHV_HUMAN_GENOMES	ss3821930207	Jul 13, 2019 (153)
149	EVA	ss3825382958	Apr 27, 2020 (154)
150	EVA	ss3825533763	Apr 27, 2020 (154)
151	EVA	ss3825548068	Apr 27, 2020 (154)
152	EVA	ss3825955414	Apr 27, 2020 (154)
153	EVA	ss3835725264	Apr 27, 2020 (154)
154	EVA	ss3841486188	Apr 27, 2020 (154)
155	EVA	ss3846999399	Apr 27, 2020 (154)
156	SGDP_PRJ	ss3889321664	Apr 27, 2020 (154)
157	KRGDB	ss3939637414	Apr 27, 2020 (154)
158	FSA-LAB	ss3984219254	Apr 27, 2021 (155)
159	EVA	ss3984751786	Apr 27, 2021 (155)
160	EVA	ss3984751787	Apr 27, 2021 (155)
161	EVA	ss3985886370	Apr 27, 2021 (155)
162	EVA	ss3986835658	Apr 27, 2021 (155)
163	EVA	ss4017853863	Apr 27, 2021 (155)
164	TOPMED	ss5092213314	Apr 27, 2021 (155)
165	TOMMO_GENOMICS	ss5230134745	Apr 27, 2021 (155)
166	EVA	ss5236984553	Apr 27, 2021 (155)
167	EVA	ss5237252553	Apr 27, 2021 (155)
168	EVA	ss5237607491	Apr 27, 2021 (155)
169	EVA	ss5237674662	Oct 16, 2022 (156)
170	1000G_HIGH_COVERAGE	ss5309170873	Oct 16, 2022 (156)
171	TRAN_CS_UWATERLOO	ss5314455846	Oct 16, 2022 (156)
172	EVA	ss5316016395	Oct 16, 2022 (156)
173	EVA	ss5438081346	Oct 16, 2022 (156)
174	HUGCELL_USP	ss5501413518	Oct 16, 2022 (156)
175	USTCDRI	ss5505748225	Oct 16, 2022 (156)
176	EVA	ss5512247147	Oct 16, 2022 (156)
177	1000G_HIGH_COVERAGE	ss5615803675	Oct 16, 2022 (156)
178	EVA	ss5623981378	Oct 16, 2022 (156)
179	EVA	ss5624114913	Oct 16, 2022 (156)
180	SANFORD_IMAGENETICS	ss5624488569	Oct 16, 2022 (156)
181	SANFORD_IMAGENETICS	ss5663418623	Oct 16, 2022 (156)
182	TOMMO_GENOMICS	ss5790087109	Oct 16, 2022 (156)
183	EVA	ss5800025292	Oct 16, 2022 (156)
184	EVA	ss5800074680	Oct 16, 2022 (156)
185	EVA	ss5800230523	Oct 16, 2022 (156)
186	YY_MCH	ss5818136728	Oct 16, 2022 (156)
187	EVA	ss5845837244	Oct 16, 2022 (156)
188	EVA	ss5847507975	Oct 16, 2022 (156)
189	EVA	ss5847924763	Oct 16, 2022 (156)
190	EVA	ss5848551343	Oct 16, 2022 (156)
191	EVA	ss5853186894	Oct 16, 2022 (156)
192	EVA	ss5923851827	Oct 16, 2022 (156)
193	EVA	ss5936428908	Oct 16, 2022 (156)
194	EVA	ss5958345707	Oct 16, 2022 (156)
195	EVA	ss5979619783	Oct 16, 2022 (156)
196	EVA	ss5981094580	Oct 16, 2022 (156)
197	1000Genomes	NC_000020.10 - 52786219	Oct 12, 2018 (152)
198	1000Genomes_30x	NC_000020.11 - 54169680	Oct 16, 2022 (156)
199	The Avon Longitudinal Study of Parents and Children	NC_000020.10 - 52786219	Oct 12, 2018 (152)
200	Chileans	NC_000020.10 - 52786219	Apr 27, 2020 (154)
201	Genetic variation in the Estonian population	NC_000020.10 - 52786219	Oct 12, 2018 (152)
202	ExAC	NC_000020.10 - 52786219	Oct 12, 2018 (152)
203	FINRISK	NC_000020.10 - 52786219	Apr 27, 2020 (154)
204	The Danish reference pan genome	NC_000020.10 - 52786219	Apr 27, 2020 (154)
205	gnomAD - Genomes	NC_000020.11 - 54169680	Apr 27, 2021 (155)
206	gnomAD - Exomes	NC_000020.10 - 52786219	Jul 13, 2019 (153)
207	GO Exome Sequencing Project	NC_000020.10 - 52786219	Oct 12, 2018 (152)
208	Genome of the Netherlands Release 5	NC_000020.10 - 52786219	Apr 27, 2020 (154)
209	HapMap	NC_000020.11 - 54169680	Apr 27, 2020 (154)
210	KOREAN population from KRGDB	NC_000020.10 - 52786219	Apr 27, 2020 (154)
211	Medical Genome Project healthy controls from Spanish population	NC_000020.10 - 52786219	Apr 27, 2020 (154)
212	Northern Sweden	NC_000020.10 - 52786219	Jul 13, 2019 (153)
213	The PAGE Study	NC_000020.11 - 54169680	Jul 13, 2019 (153)
214	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000020.10 - 52786219	Apr 27, 2021 (155)
215	CNV burdens in cranial meningiomas Submission ignored due to conflicting rows: Row 301359 (NC_000020.10:52786218:G:A 365/790) Row 301360 (NC_000020.10:52786218:G:A 365/790)	-	Apr 27, 2021 (155)
216	CNV burdens in cranial meningiomas Submission ignored due to conflicting rows: Row 301359 (NC_000020.10:52786218:G:A 365/790) Row 301360 (NC_000020.10:52786218:G:A 365/790)	-	Apr 27, 2021 (155)
217	PharmGKB Aggregated	NC_000020.11 - 54169680	Apr 27, 2020 (154)
218	Qatari	NC_000020.10 - 52786219	Apr 27, 2020 (154)
219	SGDP_PRJ	NC_000020.10 - 52786219	Apr 27, 2020 (154)
220	Siberian	NC_000020.10 - 52786219	Apr 27, 2020 (154)
221	8.3KJPN	NC_000020.10 - 52786219	Apr 27, 2021 (155)
222	14KJPN	NC_000020.11 - 54169680	Oct 16, 2022 (156)
223	TopMed	NC_000020.11 - 54169680	Apr 27, 2021 (155)
224	UK 10K study - Twins	NC_000020.10 - 52786219	Oct 12, 2018 (152)
225	A Vietnamese Genetic Variation Database	NC_000020.10 - 52786219	Jul 13, 2019 (153)
226	ALFA	NC_000020.11 - 54169680	Apr 27, 2021 (155)
227	ClinVar	RCV000603458.7	Oct 16, 2022 (156)
228	ClinVar	RCV000611389.6	Oct 16, 2022 (156)
229	ClinVar	RCV001516827.8	Oct 16, 2022 (156)

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)
rs56593514	May 27, 2008 (130)
rs61643084	May 27, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss80878321, ss91729763, ss112121632, ss117580496, ss172156147, ss203919915, ss208716524, ss212039076, ss217327745, ss217407914, ss217409474, ss217416183, ss217427839, ss217433234, ss217434574, ss283419317, ss287473292, ss292582115, ss480517850, ss491811749, ss1698891288, ss1713702268, ss2635106787, ss3643314770	NC_000020.9:52219625:G:A	NC_000020.11:54169679:G:A	(self)
78666238, 43553847, 258443, 30774881, 5606883, 120186, 5711716, 14009865, 1839855, 19397939, 46814808, 660479, 16768899, 1112297, 20387566, 41338644, 11040297, 88104052, 43553847, 9606554, ss228406017, ss237869685, ss244034108, ss342525575, ss480532050, ss481342750, ss485056284, ss491179804, ss491562493, ss537073056, ss566316407, ss662197063, ss778864236, ss780683301, ss782974353, ss783356691, ss783935649, ss832230730, ss832890803, ss834325063, ss974510288, ss994828370, ss1067599403, ss1082281160, ss1365188349, ss1429083731, ss1579546777, ss1584123725, ss1639003390, ss1681997423, ss1694048363, ss1711544719, ss1752392533, ss1752392534, ss1809549076, ss1917948678, ss1938345644, ss1946555317, ss1946555318, ss1959924969, ss1959924970, ss1969155127, ss2029952724, ss2095116470, ss2158523943, ss2629470988, ss2633813140, ss2633813141, ss2633813142, ss2704220118, ss2710942172, ss2744685978, ss2750406136, ss2968604560, ss2985219592, ss2985837202, ss3018353106, ss3022129578, ss3022129579, ss3023073004, ss3352558881, ss3625789962, ss3628417649, ss3628417650, ss3631768797, ss3633255069, ss3633969420, ss3634841543, ss3634841544, ss3635654418, ss3636535521, ss3637406525, ss3638352499, ss3640548841, ss3640548842, ss3644785728, ss3644785729, ss3646551156, ss3652586885, ss3652586886, ss3653987943, ss3685036633, ss3743484034, ss3744199280, ss3744495277, ss3745141434, ss3745141435, ss3758773257, ss3772637585, ss3772637586, ss3788676153, ss3793562433, ss3798449751, ss3825382958, ss3825533763, ss3825548068, ss3825955414, ss3835725264, ss3841486188, ss3889321664, ss3939637414, ss3984219254, ss3984751786, ss3984751787, ss3985886370, ss3986835658, ss4017853863, ss5230134745, ss5237607491, ss5316016395, ss5438081346, ss5505748225, ss5512247147, ss5623981378, ss5624114913, ss5624488569, ss5663418623, ss5800025292, ss5800074680, ss5800230523, ss5845837244, ss5847507975, ss5847924763, ss5848551343, ss5936428908, ss5958345707, ss5979619783, ss5981094580	NC_000020.10:52786218:G:A	NC_000020.11:54169679:G:A	(self)
RCV000603458.7, RCV000611389.6, RCV001516827.8, 103329610, 554876625, 2148685, 1276949, 7175, 123924213, 367322259, 9899406363, ss2243611370, ss3028809541, ss3707158715, ss3725924660, ss3772055480, ss3821930207, ss3846999399, ss5092213314, ss5236984553, ss5237252553, ss5237674662, ss5309170873, ss5314455846, ss5501413518, ss5615803675, ss5790087109, ss5818136728, ss5853186894, ss5923851827	NC_000020.11:54169679:G:A	NC_000020.11:54169679:G:A	(self)
ss12478736, ss16886091	NT_011362.8:17839126:G:A	NC_000020.11:54169679:G:A	(self)
ss3240279, ss8415748, ss23543807, ss44219161, ss48430444, ss69244933, ss75109811, ss76819543, ss84156792, ss86347760, ss103772297, ss105439110, ss119429197, ss138259663, ss153901195, ss159379009, ss159742644, ss160532069, ss161331908, ss173267278, ss244289628, ss410921821, ss469996421	NT_011362.10:22982310:G:A	NC_000020.11:54169679:G:A	(self)

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

34 citations for rs2296241

PMID	Title	Author	Year	Journal
15651992	Variants in the vitamin D receptor gene and asthma.	Wjst M et al.	2005	BMC genetics
16600026	Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.	Wjst M et al.	2006	Respiratory research
17244366	Vitamin D pathway gene polymorphisms, diet, and risk of postmenopausal breast cancer: a nested case-control study.	McCullough ML et al.	2007	Breast cancer research
19454612	Vitamin D pathway gene variants and prostate cancer risk.	Holt SK et al.	2009	Cancer epidemiology, biomarkers & prevention
20007432	Polymorphisms in vitamin D metabolism related genes and risk of multiple sclerosis.	Simon KC et al.	2010	Multiple sclerosis (Houndmills, Basingstoke, England)
20687218	Vitamin D pathway gene variants and prostate cancer prognosis.	Holt SK et al.	2010	The Prostate
20847308	Association of the vitamin D metabolism gene CYP24A1 with coronary artery calcification.	Shen H et al.	2010	Arteriosclerosis, thrombosis, and vascular biology
21441443	Inherited variation in vitamin D genes is associated with predisposition to autoimmune disease type 1 diabetes.	Cooper JD et al.	2011	Diabetes
21613960	Associations between genetic variants in vitamin D metabolism and asthma characteristics in young African Americans: a pilot study.	Pillai DK et al.	2011	Journal of investigative medicine
21828234	Common genetic variants in the vitamin D pathway including genome-wide associated variants are not associated with breast cancer risk among Chinese women.	Dorjgochoo T et al.	2011	Cancer epidemiology, biomarkers & prevention
22022476	Common genetic variants are associated with accelerated bone mineral density loss after hematopoietic cell transplantation.	Yao S et al.	2011	PloS one
22155603	Systems biology-based analysis implicates a novel role for vitamin D metabolism in the pathogenesis of age-related macular degeneration.	Morrison MA et al.	2011	Human genomics
22205958	Common variation in vitamin D pathway genes predicts circulating 25-hydroxyvitamin D Levels among African Americans.	Signorello LB et al.	2011	PloS one
22357570	The Peru Urban versus Rural Asthma (PURA) Study: methods and baseline quality control data from a cross-sectional investigation into the prevalence, severity, genetics, immunology and environmental factors affecting asthma in adolescence in Peru.	Robinson CL et al.	2012	BMJ open
22559001
22612324	Vitamin D receptor, CYP27B1 and CYP24A1 genes polymorphisms association with oral cancer risk and survival.	Zeljic K et al.	2012	Journal of oral pathology & medicine
22690899	Impaired vitamin D activation and association with CYP24A1 haplotypes in differentiated thyroid carcinoma.	Penna-Martinez M et al.	2012	Thyroid
23168575	Candidate gene linkage approach to identify DNA variants that predispose to preterm birth.	Bream EN et al.	2013	Pediatric research
23169318	Genetic sequence variants in vitamin D metabolism pathway genes, serum vitamin D level and outcome in head and neck cancer patients.	Azad AK et al.	2013	International journal of cancer
24688000	Common genetic variations in the vitamin D pathway in relation to blood pressure.	Wang L et al.	2014	American journal of hypertension
26241700	CYP24A1 and CYP27B1 Polymorphisms, Concentrations of Vitamin D Metabolites, and Odds of Colorectal Adenoma Recurrence.	Hibler EA et al.	2015	Nutrition and cancer
26303648	Association of vdr, cyp27b1, cyp24a1 and mthfr gene polymorphisms with oral lichen planus risk.	Kujundzic B et al.	2016	Clinical oral investigations
27669215	Vitamin D-Related Gene Polymorphisms, Plasma 25-Hydroxy-Vitamin D, Cigarette Smoke and Non-Small Cell Lung Cancer (NSCLC) Risk.	Wu X et al.	2016	International journal of molecular sciences
28362172	Vitamin D Signaling Pathways Confer the Susceptibility of Esophageal Squamous Cell Carcinoma in a Northern Chinese Population.	Yang J et al.	2017	Nutrition and cancer
29665413	Genetic risk factors for post-transplantation diabetes mellitus in Chinese Han renal allograft recipients treated with tacrolimus.	Zhang X et al.	2018	Transplant immunology
31872978	The association analysis between CYP24A1 genetic polymorphisms and the risk of ischemic stroke in Chinese Han population.	Yang W et al.	2020	Brain and behavior
31959263	Vitamin D-related genes and cardiometabolic markers in healthy children: a Mendelian randomisation study.	Lopez-Mayorga A et al.	2020	The British journal of nutrition
32762692	Contribution of CYP24A1 variants in coronary heart disease among the Chinese population.	Qian P et al.	2020	Lipids in health and disease
32939414	Association of vitamin D gene polymorphisms in children with asthma - A systematic review.	Ashok N et al.	2020	Heliyon
33113544	CYP24A1 rs1570669 Variant Has a Protective Effect against Tumors of the Urinary System.	Sun Y et al.	2020	Public health genomics
33219692	CYP24A1 and KL polymorphisms are associated with the extent of vascular calcification but do not improve prediction of cardiovascular events.	Solache-Berrocal G et al.	2021	Nephrology, dialysis, transplantation
34484304	Genetic Polymorphism of Vitamin D Family Genes CYP2R1, CYP24A1, and CYP27B1 Are Associated With a High Risk of Non-alcoholic Fatty Liver Disease: A Case-Control Study.	Wang M et al.	2021	Frontiers in genetics
34925313	Vitamin D Metabolic Pathway Genes Polymorphisms and Their Methylation Levels in Association With Rheumatoid Arthritis.	Zhang TP et al.	2021	Frontiers in immunology
36012386	Vitamin D-Related Genetic Variations and Nonalcoholic Fatty Liver Disease: A Systematic Review.	Jaroenlapnopparat A et al.	2022	International journal of molecular sciences

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

rs2296241