Name: rs4334089
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.

rs4334089

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:47892232 (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: A=0.368541 (97549/264690, TOPMED)
A=0.276350 (48122/174134, ALFA)
A=0.360108 (50431/140044, GnomAD) (+ 19 more)
A=0.39143 (11061/28258, 14KJPN)
A=0.39606 (6638/16760, 8.3KJPN)
A=0.4050 (2028/5008, 1000G)
A=0.1998 (895/4480, Estonian)
A=0.2818 (1086/3854, ALSPAC)
A=0.2581 (957/3708, TWINSUK)
A=0.4000 (1172/2930, KOREAN)
A=0.3311 (690/2084, HGDP_Stanford)
A=0.4132 (757/1832, Korea1K)
A=0.256 (255/998, GoNL)
A=0.412 (325/788, PRJEB37584)
A=0.275 (165/600, NorthernSweden)
G=0.344 (97/282, SGDP_PRJ)
A=0.310 (67/216, Qatari)
A=0.402 (86/214, Vietnamese)
A=0.22 (16/74, Ancient Sardinia)
A=0.20 (8/40, GENOME_DK)
G=0.50 (10/20, Siberian)
A=0.50 (10/20, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: VDR : Intron Variant
Publications: 14 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	174134	G=0.723650	A=0.276350
European	Sub	153852	G=0.740530	A=0.259470
African	Sub	7722	G=0.3960	A=0.6040
African Others	Sub	278	G=0.360	A=0.640
African American	Sub	7444	G=0.3974	A=0.6026
Asian	Sub	372	G=0.573	A=0.427
East Asian	Sub	266	G=0.605	A=0.395
Other Asian	Sub	106	G=0.491	A=0.509
Latin American 1	Sub	414	G=0.688	A=0.312
Latin American 2	Sub	2600	G=0.8192	A=0.1808
South Asian	Sub	4974	G=0.6910	A=0.3090
Other	Sub	4200	G=0.7040	A=0.2960

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

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	G=0.631459	A=0.368541
Allele Frequency Aggregator	Total	Global	174134	G=0.723650	A=0.276350
Allele Frequency Aggregator	European	Sub	153852	G=0.740530	A=0.259470
Allele Frequency Aggregator	African	Sub	7722	G=0.3960	A=0.6040
Allele Frequency Aggregator	South Asian	Sub	4974	G=0.6910	A=0.3090
Allele Frequency Aggregator	Other	Sub	4200	G=0.7040	A=0.2960
Allele Frequency Aggregator	Latin American 2	Sub	2600	G=0.8192	A=0.1808
Allele Frequency Aggregator	Latin American 1	Sub	414	G=0.688	A=0.312
Allele Frequency Aggregator	Asian	Sub	372	G=0.573	A=0.427
gnomAD - Genomes	Global	Study-wide	140044	G=0.639892	A=0.360108
gnomAD - Genomes	European	Sub	75872	G=0.74975	A=0.25025
gnomAD - Genomes	African	Sub	41930	G=0.39318	A=0.60682
gnomAD - Genomes	American	Sub	13652	G=0.75813	A=0.24187
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	G=0.8133	A=0.1867
gnomAD - Genomes	East Asian	Sub	3124	G=0.5631	A=0.4369
gnomAD - Genomes	Other	Sub	2146	G=0.6678	A=0.3322
14KJPN	JAPANESE	Study-wide	28258	G=0.60857	A=0.39143
8.3KJPN	JAPANESE	Study-wide	16760	G=0.60394	A=0.39606
1000Genomes	Global	Study-wide	5008	G=0.5950	A=0.4050
1000Genomes	African	Sub	1322	G=0.3540	A=0.6460
1000Genomes	East Asian	Sub	1008	G=0.6101	A=0.3899
1000Genomes	Europe	Sub	1006	G=0.7068	A=0.2932
1000Genomes	South Asian	Sub	978	G=0.643	A=0.357
1000Genomes	American	Sub	694	G=0.803	A=0.197
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.8002	A=0.1998
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.7182	A=0.2818
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.7419	A=0.2581
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.6000	A=0.4000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	G=0.6689	A=0.3311
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	G=0.604	A=0.396
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	G=0.703	A=0.297
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	G=0.671	A=0.329
HGDP-CEPH-db Supplement 1	Europe	Sub	320	G=0.709	A=0.291
HGDP-CEPH-db Supplement 1	Africa	Sub	242	G=0.360	A=0.640
HGDP-CEPH-db Supplement 1	America	Sub	216	G=0.981	A=0.019
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	G=0.81	A=0.19
Korean Genome Project	KOREAN	Study-wide	1832	G=0.5868	A=0.4132
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.744	A=0.256
CNV burdens in cranial meningiomas	Global	Study-wide	788	G=0.588	A=0.412
CNV burdens in cranial meningiomas	CRM	Sub	788	G=0.588	A=0.412
Northern Sweden	ACPOP	Study-wide	600	G=0.725	A=0.275
SGDP_PRJ	Global	Study-wide	282	G=0.344	A=0.656
Qatari	Global	Study-wide	216	G=0.690	A=0.310
A Vietnamese Genetic Variation Database	Global	Study-wide	214	G=0.598	A=0.402
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	74	G=0.78	A=0.22
The Danish reference pan genome	Danish	Study-wide	40	G=0.80	A=0.20
Siberian	Global	Study-wide	20	G=0.50	A=0.50

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

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 12	NC_000012.12:g.47892232G>A
GRCh37.p13 chr 12	NC_000012.11:g.48286015G>A
VDR RefSeqGene	NG_008731.1:g.17800C>T

Gene: VDR, vitamin D receptor (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
VDR transcript variant 1	NM_000376.3:c.-83-9458C>T	N/A	Intron Variant
VDR transcript variant 2	NM_001017535.2:c.-84+7605… NM_001017535.2:c.-84+7605C>T	N/A	Intron Variant
VDR transcript variant 3	NM_001017536.2:c.68-9458C… NM_001017536.2:c.68-9458C>T	N/A	Intron Variant
VDR transcript variant 1	NM_001364085.2:c.-83-9458… NM_001364085.2:c.-83-9458C>T	N/A	Intron Variant
VDR transcript variant 4	NM_001374661.1:c.-3+7605C… NM_001374661.1:c.-3+7605C>T	N/A	Intron Variant
VDR transcript variant 5	NM_001374662.1:c.-3+12723… NM_001374662.1:c.-3+12723C>T	N/A	Intron Variant
VDR transcript variant X1	XM_024449178.2:c.67+12332… XM_024449178.2:c.67+12332C>T	N/A	Intron Variant
VDR transcript variant X2	XM_047429500.1:c.-84+7605… XM_047429500.1:c.-84+7605C>T	N/A	Intron Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

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

Placement	G=	A
GRCh38.p14 chr 12	NC_000012.12:g.47892232=	NC_000012.12:g.47892232G>A
GRCh37.p13 chr 12	NC_000012.11:g.48286015=	NC_000012.11:g.48286015G>A
VDR RefSeqGene	NG_008731.1:g.17800=	NG_008731.1:g.17800C>T
VDR transcript variant 1	NM_000376.2:c.-83-9458=	NM_000376.2:c.-83-9458C>T
VDR transcript variant 1	NM_000376.3:c.-83-9458=	NM_000376.3:c.-83-9458C>T
VDR transcript variant 2	NM_001017535.1:c.-84+7605=	NM_001017535.1:c.-84+7605C>T
VDR transcript variant 2	NM_001017535.2:c.-84+7605=	NM_001017535.2:c.-84+7605C>T
VDR transcript variant 3	NM_001017536.1:c.68-9458=	NM_001017536.1:c.68-9458C>T
VDR transcript variant 3	NM_001017536.2:c.68-9458=	NM_001017536.2:c.68-9458C>T
VDR transcript variant 1	NM_001364085.2:c.-83-9458=	NM_001364085.2:c.-83-9458C>T
VDR transcript variant 4	NM_001374661.1:c.-3+7605=	NM_001374661.1:c.-3+7605C>T
VDR transcript variant 5	NM_001374662.1:c.-3+12723=	NM_001374662.1:c.-3+12723C>T
VDR transcript variant X1	XM_024449178.2:c.67+12332=	XM_024449178.2:c.67+12332C>T
VDR transcript variant X2	XM_047429500.1:c.-84+7605=	XM_047429500.1:c.-84+7605C>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#.

116 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss5759310	Feb 20, 2003 (111)
2	SC_SNP	ss15833988	Feb 27, 2004 (120)
3	SSAHASNP	ss20923612	Apr 05, 2004 (121)
4	ABI	ss38884160	Mar 15, 2006 (126)
5	ILLUMINA	ss66683117	Nov 29, 2006 (127)
6	ILLUMINA	ss67327785	Nov 29, 2006 (127)
7	ILLUMINA	ss67728976	Nov 29, 2006 (127)
8	ILLUMINA	ss70800374	May 25, 2008 (130)
9	ILLUMINA	ss71379122	May 16, 2007 (127)
10	ILLUMINA	ss75907406	Dec 06, 2007 (129)
11	ILLUMINA	ss79179670	Dec 15, 2007 (130)
12	HGSV	ss83547928	Dec 15, 2007 (130)
13	KRIBB_YJKIM	ss84252509	Dec 15, 2007 (130)
14	HGSV	ss85507585	Dec 15, 2007 (130)
15	BCMHGSC_JDW	ss89138093	Mar 24, 2008 (129)
16	HUMANGENOME_JCVI	ss97227478	Feb 05, 2009 (130)
17	1000GENOMES	ss111908554	Jan 25, 2009 (130)
18	1000GENOMES	ss113509424	Jan 25, 2009 (130)
19	ILLUMINA-UK	ss118787207	Feb 14, 2009 (130)
20	ILLUMINA	ss122296236	Dec 01, 2009 (131)
21	ENSEMBL	ss133153606	Dec 01, 2009 (131)
22	ENSEMBL	ss142626480	Dec 01, 2009 (131)
23	ILLUMINA	ss154290395	Dec 01, 2009 (131)
24	ILLUMINA	ss159467355	Dec 01, 2009 (131)
25	ILLUMINA	ss171776878	Jul 04, 2010 (132)
26	ILLUMINA	ss173716940	Jul 04, 2010 (132)
27	COMPLETE_GENOMICS	ss175118037	Jul 04, 2010 (132)
28	BUSHMAN	ss198141081	Jul 04, 2010 (132)
29	1000GENOMES	ss225742048	Jul 14, 2010 (132)
30	1000GENOMES	ss235927004	Jul 15, 2010 (132)
31	1000GENOMES	ss242488136	Jul 15, 2010 (132)
32	ILLUMINA	ss244299645	Jul 04, 2010 (132)
33	BL	ss255097111	May 09, 2011 (134)
34	GMI	ss281387831	May 04, 2012 (137)
35	GMI	ss286557623	Apr 25, 2013 (138)
36	PJP	ss291245795	May 09, 2011 (134)
37	ILLUMINA	ss480926348	May 04, 2012 (137)
38	ILLUMINA	ss480945722	May 04, 2012 (137)
39	ILLUMINA	ss485258174	May 04, 2012 (137)
40	ILLUMINA	ss537228331	Sep 08, 2015 (146)
41	TISHKOFF	ss563151990	Apr 25, 2013 (138)
42	SSMP	ss658705050	Apr 25, 2013 (138)
43	ILLUMINA	ss778534079	Sep 08, 2015 (146)
44	ILLUMINA	ss783075035	Sep 08, 2015 (146)
45	ILLUMINA	ss784032765	Sep 08, 2015 (146)
46	ILLUMINA	ss825510188	Apr 01, 2015 (144)
47	ILLUMINA	ss832333244	Sep 08, 2015 (146)
48	ILLUMINA	ss832978841	Jul 13, 2019 (153)
49	ILLUMINA	ss833990640	Sep 08, 2015 (146)
50	EVA-GONL	ss989508696	Aug 21, 2014 (142)
51	JMKIDD_LAB	ss1078444595	Aug 21, 2014 (142)
52	1000GENOMES	ss1344915566	Aug 21, 2014 (142)
53	DDI	ss1426926847	Apr 01, 2015 (144)
54	EVA_GENOME_DK	ss1576268723	Apr 01, 2015 (144)
55	EVA_DECODE	ss1599179111	Apr 01, 2015 (144)
56	EVA_UK10K_ALSPAC	ss1628540933	Apr 01, 2015 (144)
57	EVA_UK10K_TWINSUK	ss1671534966	Apr 01, 2015 (144)
58	EVA_SVP	ss1713325830	Apr 01, 2015 (144)
59	ILLUMINA	ss1752069158	Sep 08, 2015 (146)
60	HAMMER_LAB	ss1807234384	Sep 08, 2015 (146)
61	WEILL_CORNELL_DGM	ss1932873310	Feb 12, 2016 (147)
62	JJLAB	ss2027187977	Sep 14, 2016 (149)
63	ILLUMINA	ss2094793445	Dec 20, 2016 (150)
64	ILLUMINA	ss2095034803	Dec 20, 2016 (150)
65	USC_VALOUEV	ss2155523563	Dec 20, 2016 (150)
66	HUMAN_LONGEVITY	ss2189578644	Dec 20, 2016 (150)
67	SYSTEMSBIOZJU	ss2628073857	Nov 08, 2017 (151)
68	ILLUMINA	ss2632956261	Nov 08, 2017 (151)
69	ILLUMINA	ss2635036373	Nov 08, 2017 (151)
70	GRF	ss2699866406	Nov 08, 2017 (151)
71	SWEGEN	ss3009644606	Nov 08, 2017 (151)
72	BIOINF_KMB_FNS_UNIBA	ss3027402247	Nov 08, 2017 (151)
73	CSHL	ss3350053216	Nov 08, 2017 (151)
74	ILLUMINA	ss3626871026	Oct 12, 2018 (152)
75	ILLUMINA	ss3630965632	Oct 12, 2018 (152)
76	ILLUMINA	ss3633019512	Oct 12, 2018 (152)
77	ILLUMINA	ss3633720399	Oct 12, 2018 (152)
78	ILLUMINA	ss3634502671	Oct 12, 2018 (152)
79	ILLUMINA	ss3635411190	Oct 12, 2018 (152)
80	ILLUMINA	ss3637162172	Oct 12, 2018 (152)
81	ILLUMINA	ss3637961274	Oct 12, 2018 (152)
82	ILLUMINA	ss3638994740	Oct 12, 2018 (152)
83	ILLUMINA	ss3639499460	Oct 12, 2018 (152)
84	ILLUMINA	ss3640210004	Oct 12, 2018 (152)
85	ILLUMINA	ss3642955027	Oct 12, 2018 (152)
86	URBANLAB	ss3649833022	Oct 12, 2018 (152)
87	ILLUMINA	ss3651804214	Oct 12, 2018 (152)
88	EGCUT_WGS	ss3676921013	Jul 13, 2019 (153)
89	EVA_DECODE	ss3693620359	Jul 13, 2019 (153)
90	ACPOP	ss3739000221	Jul 13, 2019 (153)
91	ILLUMINA	ss3744803361	Jul 13, 2019 (153)
92	EVA	ss3750450157	Jul 13, 2019 (153)
93	ILLUMINA	ss3772302850	Jul 13, 2019 (153)
94	KHV_HUMAN_GENOMES	ss3815780487	Jul 13, 2019 (153)
95	EVA	ss3833110383	Apr 27, 2020 (154)
96	HGDP	ss3847450103	Apr 27, 2020 (154)
97	SGDP_PRJ	ss3878223008	Apr 27, 2020 (154)
98	KRGDB	ss3926840509	Apr 27, 2020 (154)
99	KOGIC	ss3971874612	Apr 27, 2020 (154)
100	EVA	ss3984666375	Apr 26, 2021 (155)
101	EVA	ss3985589673	Apr 26, 2021 (155)
102	EVA	ss4017587321	Apr 26, 2021 (155)
103	GNOMAD	ss4251345695	Apr 26, 2021 (155)
104	TOPMED	ss4917405002	Apr 26, 2021 (155)
105	TOMMO_GENOMICS	ss5206196760	Apr 26, 2021 (155)
106	1000G_HIGH_COVERAGE	ss5290718436	Oct 16, 2022 (156)
107	EVA	ss5315619028	Oct 16, 2022 (156)
108	EVA	ss5405474354	Oct 16, 2022 (156)
109	HUGCELL_USP	ss5485482954	Oct 16, 2022 (156)
110	SANFORD_IMAGENETICS	ss5653104563	Oct 16, 2022 (156)
111	TOMMO_GENOMICS	ss5755946689	Oct 16, 2022 (156)
112	YY_MCH	ss5813276891	Oct 16, 2022 (156)
113	EVA	ss5837932645	Oct 16, 2022 (156)
114	EVA	ss5850371186	Oct 16, 2022 (156)
115	EVA	ss5904292237	Oct 16, 2022 (156)
116	EVA	ss5944467832	Oct 16, 2022 (156)
117	1000Genomes	NC_000012.11 - 48286015	Oct 12, 2018 (152)
118	The Avon Longitudinal Study of Parents and Children	NC_000012.11 - 48286015	Oct 12, 2018 (152)
119	Genetic variation in the Estonian population	NC_000012.11 - 48286015	Oct 12, 2018 (152)
120	The Danish reference pan genome	NC_000012.11 - 48286015	Apr 27, 2020 (154)
121	gnomAD - Genomes	NC_000012.12 - 47892232	Apr 26, 2021 (155)
122	Genome of the Netherlands Release 5	NC_000012.11 - 48286015	Apr 27, 2020 (154)
123	HGDP-CEPH-db Supplement 1	NC_000012.10 - 46572282	Apr 27, 2020 (154)
124	KOREAN population from KRGDB	NC_000012.11 - 48286015	Apr 27, 2020 (154)
125	Korean Genome Project	NC_000012.12 - 47892232	Apr 27, 2020 (154)
126	Northern Sweden	NC_000012.11 - 48286015	Jul 13, 2019 (153)
127	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000012.11 - 48286015	Apr 26, 2021 (155)
128	CNV burdens in cranial meningiomas	NC_000012.11 - 48286015	Apr 26, 2021 (155)
129	Qatari	NC_000012.11 - 48286015	Apr 27, 2020 (154)
130	SGDP_PRJ	NC_000012.11 - 48286015	Apr 27, 2020 (154)
131	Siberian	NC_000012.11 - 48286015	Apr 27, 2020 (154)
132	8.3KJPN	NC_000012.11 - 48286015	Apr 26, 2021 (155)
133	14KJPN	NC_000012.12 - 47892232	Oct 16, 2022 (156)
134	TopMed	NC_000012.12 - 47892232	Apr 26, 2021 (155)
135	UK 10K study - Twins	NC_000012.11 - 48286015	Oct 12, 2018 (152)
136	A Vietnamese Genetic Variation Database	NC_000012.11 - 48286015	Jul 13, 2019 (153)
137	ALFA	NC_000012.12 - 47892232	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)
rs58903074	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss83547928, ss85507585, ss3638994740, ss3639499460	NC_000012.9:46572281:G:A	NC_000012.12:47892231:G:A	(self)
127995, ss89138093, ss111908554, ss113509424, ss118787207, ss175118037, ss198141081, ss255097111, ss281387831, ss286557623, ss291245795, ss480926348, ss825510188, ss1599179111, ss1713325830, ss2635036373, ss3642955027, ss3847450103	NC_000012.10:46572281:G:A	NC_000012.12:47892231:G:A	(self)
57660652, 32019321, 22659261, 2954492, 14289975, 34017903, 12285086, 815600, 215868, 14915240, 30239988, 8039917, 64166067, 32019321, 7109538, ss225742048, ss235927004, ss242488136, ss480945722, ss485258174, ss537228331, ss563151990, ss658705050, ss778534079, ss783075035, ss784032765, ss832333244, ss832978841, ss833990640, ss989508696, ss1078444595, ss1344915566, ss1426926847, ss1576268723, ss1628540933, ss1671534966, ss1752069158, ss1807234384, ss1932873310, ss2027187977, ss2094793445, ss2095034803, ss2155523563, ss2628073857, ss2632956261, ss2699866406, ss3009644606, ss3350053216, ss3626871026, ss3630965632, ss3633019512, ss3633720399, ss3634502671, ss3635411190, ss3637162172, ss3637961274, ss3640210004, ss3651804214, ss3676921013, ss3739000221, ss3744803361, ss3750450157, ss3772302850, ss3833110383, ss3878223008, ss3926840509, ss3984666375, ss3985589673, ss4017587321, ss5206196760, ss5315619028, ss5405474354, ss5653104563, ss5837932645, ss5944467832	NC_000012.11:48286014:G:A	NC_000012.12:47892231:G:A	(self)
406579627, 28252613, 89783793, 132950659, 5898686330, ss2189578644, ss3027402247, ss3649833022, ss3693620359, ss3815780487, ss3971874612, ss4251345695, ss4917405002, ss5290718436, ss5485482954, ss5755946689, ss5813276891, ss5850371186, ss5904292237	NC_000012.12:47892231:G:A	NC_000012.12:47892231:G:A	(self)
ss15833988, ss20923612	NT_029419.10:10429320:G:A	NC_000012.12:47892231:G:A	(self)
ss5759310, ss38884160, ss66683117, ss67327785, ss67728976, ss70800374, ss71379122, ss75907406, ss79179670, ss84252509, ss97227478, ss122296236, ss133153606, ss142626480, ss154290395, ss159467355, ss171776878, ss173716940, ss244299645	NT_029419.12:10429320:G:A	NC_000012.12:47892231:G:A	(self)

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

14 citations for rs4334089

PMID	Title	Author	Year	Journal
18593774	Genetic and environmental determinants of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D levels in Hispanic and African Americans.	Engelman CD et al.	2008	The Journal of clinical endocrinology and metabolism
21309754	Vitamin D receptor gene as a candidate gene for Parkinson disease.	Butler MW et al.	2011	Annals of human genetics
21548019	Maternal vitamin D receptor genetic variation contributes to infant birthweight among black mothers.	Swamy GK et al.	2011	American journal of medical genetics. Part A
22046258	Genetic associations in the vitamin D receptor and colorectal cancer in African Americans and Caucasians.	Kupfer SS et al.	2011	PloS one
22106445	HTR1B, ADIPOR1, PPARGC1A, and CYP19A1 and obesity in a cohort of Caucasians and African Americans: an evaluation of gene-environment interactions and candidate genes.	Edwards TL et al.	2012	American journal of epidemiology
22947263	Association study between vitamin d receptor gene polymorphisms and patients with Parkinson disease in Chinese Han population.	Lv Z et al.	2013	The International journal of neuroscience
24149131	Candidate gene analysis in israeli soldiers with stress fractures.	Yanovich R et al.	2012	Journal of sports science & medicine
25008423	Vitamin D receptor polymorphisms and susceptibility to Parkinson's disease and Alzheimer's disease: a meta-analysis.	Lee YH et al.	2014	Neurological sciences
27736940	Vitamin D Receptor Gene Polymorphism and the Risk of Colorectal Cancer: A Nested Case-Control Study.	Budhathoki S et al.	2016	PloS one
28692301	High-Dose Vitamin D(3) during Tuberculosis Treatment in Mongolia. A Randomized Controlled Trial.	Ganmaa D et al.	2017	American journal of respiratory and critical care medicine
30132432	Vitamin D receptor genotype influences risk of upper respiratory infection.	Jolliffe DA et al.	2018	The British journal of nutrition
32169032	Distribution of variants in multiple vitamin D-related loci (DHCR7/NADSYN1, GC, CYP2R1, CYP11A1, CYP24A1, VDR, RXRα and RXRγ) vary between European, East-Asian and Sub-Saharan African-ancestry populations.	Jones P et al.	2020	Genes & nutrition
34217944	Association of vitamin D and gene variants in the vitamin D metabolic pathway with preterm birth.	Wang S et al.	2021	Nutrition (Burbank, Los Angeles County, Calif.)
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).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs4334089