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dbSNP Short Genetic Variations

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.

rs7041

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr4:71752617 (GRCh38.p12) 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>C / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.41633 (52278/125568, TOPMED)
A=0.48409 (58741/121342, ExAC)
C=0.3215 (25300/78690, PAGE_STUDY) (+ 7 more)
C=0.4552 (14272/31356, GnomAD)
C=0.382 (1911/5008, 1000G)
A=0.412 (1848/4480, Estonian)
A=0.445 (1714/3854, ALSPAC)
A=0.441 (1635/3708, TWINSUK)
C=0.30 (186/616, Vietnamese)
A=0.38 (225/600, NorthernSweden)
Clinical Significance
Reported in ClinVar
Gene : Consequence
GC : Missense Variant
Publications
158 citations
Genomic View
See rs on genome
Help

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.p12 chr 4 NC_000004.12:g.71752617A>C
GRCh38.p12 chr 4 NC_000004.12:g.71752617A>T
GRCh37.p13 chr 4 NC_000004.11:g.72618334A>C
GRCh37.p13 chr 4 NC_000004.11:g.72618334A>T
GC RefSeqGene NG_012837.3:g.57904T>G
GC RefSeqGene NG_012837.3:g.57904T>A
GC RefSeqGene NG_012837.2:g.57904T>G
GC RefSeqGene NG_012837.2:g.57904T>A
Gene: GC, GC vitamin D binding protein (minus strand)
Molecule type Change Amino acid[Codon] SO Term
GC transcript variant 2 NM_001204306.1:c.1296T>G D [GAT] > E [GAG] Coding Sequence Variant
vitamin D-binding protein isoform 1 precursor NP_001191235.1:p.Asp432Glu D (Asp) > E (Glu) Missense Variant
GC transcript variant 2 NM_001204306.1:c.1296T>A D [GAT] > E [GAA] Coding Sequence Variant
vitamin D-binding protein isoform 1 precursor NP_001191235.1:p.Asp432Glu D (Asp) > E (Glu) Missense Variant
GC transcript variant 3 NM_001204307.1:c.1353T>G D [GAT] > E [GAG] Coding Sequence Variant
vitamin D-binding protein isoform 3 precursor NP_001191236.1:p.Asp451Glu D (Asp) > E (Glu) Missense Variant
GC transcript variant 3 NM_001204307.1:c.1353T>A D [GAT] > E [GAA] Coding Sequence Variant
vitamin D-binding protein isoform 3 precursor NP_001191236.1:p.Asp451Glu D (Asp) > E (Glu) Missense Variant
GC transcript variant 1 NM_000583.4:c.1296T>G D [GAT] > E [GAG] Coding Sequence Variant
vitamin D-binding protein isoform 1 precursor NP_000574.2:p.Asp432Glu D (Asp) > E (Glu) Missense Variant
GC transcript variant 1 NM_000583.4:c.1296T>A D [GAT] > E [GAA] Coding Sequence Variant
vitamin D-binding protein isoform 1 precursor NP_000574.2:p.Asp432Glu D (Asp) > E (Glu) Missense Variant
GC transcript variant X1 XM_006714177.3:c. N/A Intron Variant
Help

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: C (allele ID: 31026 )
ClinVar Accession Disease Names Clinical Significance
RCV000017357.3 GC1/GC2 POLYMORPHISM Benign
Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 125568 A=0.58367 C=0.41633
ExAC Global Study-wide 121342 A=0.48409 C=0.51591
ExAC Europe Sub 73338 A=0.4131 C=0.5869
ExAC Asian Sub 25156 A=0.5371 C=0.4629
ExAC American Sub 11536 A=0.5013 C=0.4987
ExAC African Sub 10404 A=0.8394 C=0.1606
ExAC Other Sub 908 A=0.46 C=0.54
The PAGE Study Global Study-wide 78690 A=0.6785 C=0.3215
The PAGE Study AfricanAmerican Sub 32516 A=0.8235 C=0.1765
The PAGE Study Mexican Sub 10800 A=0.4965 C=0.5035
The PAGE Study Asian Sub 8318 A=0.737 C=0.263
The PAGE Study PuertoRican Sub 7916 A=0.554 C=0.446
The PAGE Study NativeHawaiian Sub 4534 A=0.669 C=0.331
The PAGE Study Cuban Sub 4230 A=0.487 C=0.513
The PAGE Study Dominican Sub 3828 A=0.626 C=0.374
The PAGE Study CentralAmerican Sub 2450 A=0.513 C=0.487
The PAGE Study SouthAmerican Sub 1982 A=0.487 C=0.513
The PAGE Study NativeAmerican Sub 1260 A=0.503 C=0.497
The PAGE Study SouthAsian Sub 856 A=0.45 C=0.55
gnomAD - Genomes Global Study-wide 31356 A=0.5448 C=0.4552
gnomAD - Genomes European Sub 18880 A=0.4075 C=0.5925
gnomAD - Genomes African Sub 8706 A=0.834 C=0.166
gnomAD - Genomes East Asian Sub 1550 A=0.703 C=0.297
gnomAD - Genomes Other Sub 1086 A=0.446 C=0.554
gnomAD - Genomes American Sub 844 A=0.51 C=0.49
gnomAD - Genomes Ashkenazi Jewish Sub 290 A=0.44 C=0.56
1000Genomes Global Study-wide 5008 A=0.618 C=0.382
1000Genomes African Sub 1322 A=0.906 C=0.094
1000Genomes East Asian Sub 1008 A=0.700 C=0.300
1000Genomes Europe Sub 1006 A=0.417 C=0.583
1000Genomes South Asian Sub 978 A=0.46 C=0.54
1000Genomes American Sub 694 A=0.46 C=0.54
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.412 C=0.588
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.445 C=0.555
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.441 C=0.559
A Vietnamese Genetic Variation Database Global Study-wide 616 A=0.70 C=0.30
Northern Sweden ACPOP Study-wide 600 A=0.38 C=0.62
Help

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= C T Note
GRCh38.p12 chr 4 NC_000004.12:g.71...

NC_000004.12:g.71752617=

NC_000004.12:g.71...

NC_000004.12:g.71752617A>C

NC_000004.12:g.71...

NC_000004.12:g.71752617A>T

GRCh37.p13 chr 4 NC_000004.11:g.72...

NC_000004.11:g.72618334=

NC_000004.11:g.72...

NC_000004.11:g.72618334A>C

NC_000004.11:g.72...

NC_000004.11:g.72618334A>T

GC RefSeqGene NG_012837.3:g.57904= NG_012837.3:g.579...

NG_012837.3:g.57904T>G

NG_012837.3:g.579...

NG_012837.3:g.57904T>A

GC RefSeqGene NG_012837.2:g.57904= NG_012837.2:g.579...

NG_012837.2:g.57904T>G

NG_012837.2:g.579...

NG_012837.2:g.57904T>A

GC transcript variant 1 NM_000583.4:c.1296= NM_000583.4:c.129...

NM_000583.4:c.1296T>G

NM_000583.4:c.129...

NM_000583.4:c.1296T>A

GC transcript variant 1 NM_000583.3:c.1296= NM_000583.3:c.129...

NM_000583.3:c.1296T>G

NM_000583.3:c.129...

NM_000583.3:c.1296T>A

GC transcript variant 2 NM_001204306.1:c....

NM_001204306.1:c.1296=

NM_001204306.1:c....

NM_001204306.1:c.1296T>G

NM_001204306.1:c....

NM_001204306.1:c.1296T>A

GC transcript variant 3 NM_001204307.1:c....

NM_001204307.1:c.1353=

NM_001204307.1:c....

NM_001204307.1:c.1353T>G

NM_001204307.1:c....

NM_001204307.1:c.1353T>A

vitamin D-binding protein isoform 1 precursor NP_000574.2:p.Asp...

NP_000574.2:p.Asp432=

NP_000574.2:p.Asp...

NP_000574.2:p.Asp432Glu

NP_000574.2:p.Asp...

NP_000574.2:p.Asp432Glu

vitamin D-binding protein isoform 1 precursor NP_001191235.1:p....

NP_001191235.1:p.Asp432=

NP_001191235.1:p....

NP_001191235.1:p.Asp432Glu

NP_001191235.1:p....

NP_001191235.1:p.Asp432Glu

vitamin D-binding protein isoform 3 precursor NP_001191236.1:p....

NP_001191236.1:p.Asp451=

NP_001191236.1:p....

NP_001191236.1:p.Asp451Glu

NP_001191236.1:p....

NP_001191236.1:p.Asp451Glu

Help

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#.

156 SubSNP, 12 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 KWOK ss288475 Jul 12, 2000 (102)
2 SC_JCM ss489910 Jul 16, 2000 (102)
3 KWOK ss1261780 Oct 04, 2000 (102)
4 KWOK ss1283000 Oct 04, 2000 (102)
5 KWOK ss1956099 Oct 18, 2000 (102)
6 KWOK ss1977699 Oct 18, 2000 (102)
7 HGBASE ss2424121 Nov 14, 2000 (102)
8 LEE ss4393167 May 29, 2002 (108)
9 YUSUKE ss4923550 Aug 28, 2002 (108)
10 SNP500CANCER ss6903804 Jul 02, 2003 (116)
11 IBARROSO ss12587289 Aug 26, 2003 (117)
12 WI_SSAHASNP ss14604252 Dec 05, 2003 (119)
13 SSAHASNP ss22163829 Apr 05, 2004 (121)
14 ABI ss44554071 Mar 13, 2006 (126)
15 APPLERA_GI ss48413054 Mar 13, 2006 (126)
16 ILLUMINA ss66689649 Nov 30, 2006 (127)
17 ILLUMINA ss67533435 Nov 30, 2006 (127)
18 ILLUMINA ss67903347 Nov 30, 2006 (127)
19 PERLEGEN ss68901843 May 17, 2007 (127)
20 ILLUMINA ss70904460 May 25, 2008 (130)
21 ILLUMINA ss71500545 May 17, 2007 (127)
22 AFFY ss74813026 Aug 16, 2007 (128)
23 ILLUMINA ss75589019 Dec 07, 2007 (129)
24 SI_EXO ss76896260 Dec 07, 2007 (129)
25 ILLUMINA ss79243587 Dec 15, 2007 (130)
26 HGSV ss82333840 Dec 15, 2007 (130)
27 KRIBB_YJKIM ss83347585 Dec 15, 2007 (130)
28 BCMHGSC_JDW ss92638050 Mar 24, 2008 (129)
29 HUMANGENOME_JCVI ss98836297 Feb 06, 2009 (130)
30 BGI ss105836642 Feb 06, 2009 (130)
31 1000GENOMES ss108035707 Jan 22, 2009 (130)
32 ILLUMINA ss122676568 Dec 01, 2009 (131)
33 ENSEMBL ss134647109 Dec 01, 2009 (131)
34 ENSEMBL ss139688182 Dec 01, 2009 (131)
35 ILLUMINA ss154400453 Dec 01, 2009 (131)
36 GMI ss157430961 Dec 01, 2009 (131)
37 ILLUMINA ss159575841 Dec 01, 2009 (131)
38 SEATTLESEQ ss159707787 Dec 01, 2009 (131)
39 ILLUMINA ss160840280 Dec 01, 2009 (131)
40 COMPLETE_GENOMICS ss162224417 Jul 04, 2010 (132)
41 COMPLETE_GENOMICS ss166733965 Jul 04, 2010 (132)
42 ILLUMINA ss172237230 Jul 04, 2010 (132)
43 ILLUMINA ss174216819 Jul 04, 2010 (132)
44 1000GENOMES ss211429228 Jul 14, 2010 (132)
45 1000GENOMES ss220991366 Jul 14, 2010 (132)
46 1000GENOMES ss232440815 Jul 14, 2010 (132)
47 1000GENOMES ss239723910 Jul 15, 2010 (132)
48 ILLUMINA ss244307587 Jul 04, 2010 (132)
49 GMI ss277771312 May 04, 2012 (137)
50 GMI ss284932028 Apr 25, 2013 (138)
51 PJP ss293098638 May 09, 2011 (134)
52 OMIM-CURATED-RECORDS ss295469804 Jan 27, 2011 (133)
53 NHLBI-ESP ss342165190 May 09, 2011 (134)
54 PAGE_STUDY ss469415267 May 04, 2012 (137)
55 PAGE_STUDY ss469996370 May 04, 2012 (137)
56 ILLUMINA ss481442749 May 04, 2012 (137)
57 ILLUMINA ss481470331 May 04, 2012 (137)
58 ILLUMINA ss482450321 Sep 08, 2015 (146)
59 ILLUMINA ss485516478 May 04, 2012 (137)
60 1000GENOMES ss490889031 May 04, 2012 (137)
61 EXOME_CHIP ss491356818 May 04, 2012 (137)
62 CLINSEQ_SNP ss491855428 May 04, 2012 (137)
63 ILLUMINA ss537426293 Sep 08, 2015 (146)
64 TISHKOFF ss557591333 Apr 25, 2013 (138)
65 SSMP ss651401283 Apr 25, 2013 (138)
66 ILLUMINA ss778590018 Sep 08, 2015 (146)
67 ILLUMINA ss780829511 Aug 21, 2014 (142)
68 ILLUMINA ss783203776 Sep 08, 2015 (146)
69 ILLUMINA ss783512396 Aug 21, 2014 (142)
70 ILLUMINA ss784158656 Sep 08, 2015 (146)
71 ILLUMINA ss825574105 Apr 01, 2015 (144)
72 ILLUMINA ss832463789 Sep 08, 2015 (146)
73 ILLUMINA ss833086920 Jul 13, 2019 (153)
74 ILLUMINA ss834047201 Sep 08, 2015 (146)
75 JMKIDD_LAB ss974452823 Aug 21, 2014 (142)
76 EVA-GONL ss980240884 Aug 21, 2014 (142)
77 JMKIDD_LAB ss1067461899 Aug 21, 2014 (142)
78 JMKIDD_LAB ss1071633826 Aug 21, 2014 (142)
79 1000GENOMES ss1310214182 Aug 21, 2014 (142)
80 HAMMER_LAB ss1397378634 Sep 08, 2015 (146)
81 DDI ss1429921240 Apr 01, 2015 (144)
82 EVA_GENOME_DK ss1580608734 Apr 01, 2015 (144)
83 EVA_FINRISK ss1584034694 Apr 01, 2015 (144)
84 EVA_DECODE ss1589740280 Apr 01, 2015 (144)
85 EVA_UK10K_ALSPAC ss1610325204 Apr 01, 2015 (144)
86 EVA_UK10K_TWINSUK ss1653319237 Apr 01, 2015 (144)
87 EVA_EXAC ss1687524652 Apr 01, 2015 (144)
88 EVA_MGP ss1711062637 Apr 01, 2015 (144)
89 EVA_SVP ss1712680171 Apr 01, 2015 (144)
90 ILLUMINA ss1752530641 Sep 08, 2015 (146)
91 ILLUMINA ss1752530642 Sep 08, 2015 (146)
92 HAMMER_LAB ss1801632769 Sep 08, 2015 (146)
93 ILLUMINA ss1917781328 Feb 12, 2016 (147)
94 WEILL_CORNELL_DGM ss1923483773 Feb 12, 2016 (147)
95 ILLUMINA ss1946118564 Feb 12, 2016 (147)
96 ILLUMINA ss1958692378 Feb 12, 2016 (147)
97 GENOMED ss1969771880 Jul 19, 2016 (147)
98 JJLAB ss2022328108 Sep 14, 2016 (149)
99 ILLUMINA ss2094815814 Dec 20, 2016 (150)
100 ILLUMINA ss2095144817 Dec 20, 2016 (150)
101 USC_VALOUEV ss2150455670 Dec 20, 2016 (150)
102 HUMAN_LONGEVITY ss2263812157 Dec 20, 2016 (150)
103 TOPMED ss2431600466 Dec 20, 2016 (150)
104 SYSTEMSBIOZJU ss2625663255 Nov 08, 2017 (151)
105 ILLUMINA ss2634132855 Nov 08, 2017 (151)
106 ILLUMINA ss2635133157 Nov 08, 2017 (151)
107 GRF ss2705928266 Nov 08, 2017 (151)
108 GNOMAD ss2734557738 Nov 08, 2017 (151)
109 GNOMAD ss2747251985 Nov 08, 2017 (151)
110 GNOMAD ss2810653963 Nov 08, 2017 (151)
111 AFFY ss2985294665 Nov 08, 2017 (151)
112 SWEGEN ss2994896384 Nov 08, 2017 (151)
113 ILLUMINA ss3022383061 Nov 08, 2017 (151)
114 EVA_SAMSUNG_MC ss3023060665 Nov 08, 2017 (151)
115 BIOINF_KMB_FNS_UNIBA ss3024938003 Nov 08, 2017 (151)
116 CSHL ss3345773131 Nov 08, 2017 (151)
117 TOPMED ss3432180292 Nov 08, 2017 (151)
118 ILLUMINA ss3628987511 Oct 12, 2018 (152)
119 ILLUMINA ss3628987512 Oct 12, 2018 (152)
120 ILLUMINA ss3632068420 Oct 12, 2018 (152)
121 ILLUMINA ss3633337951 Oct 12, 2018 (152)
122 ILLUMINA ss3634057045 Oct 12, 2018 (152)
123 ILLUMINA ss3634956087 Oct 12, 2018 (152)
124 ILLUMINA ss3634956088 Oct 12, 2018 (152)
125 ILLUMINA ss3635739900 Oct 12, 2018 (152)
126 ILLUMINA ss3636659748 Oct 12, 2018 (152)
127 ILLUMINA ss3637492420 Oct 12, 2018 (152)
128 ILLUMINA ss3638491929 Oct 12, 2018 (152)
129 ILLUMINA ss3639248714 Oct 12, 2018 (152)
130 ILLUMINA ss3639645511 Oct 12, 2018 (152)
131 ILLUMINA ss3640663383 Oct 12, 2018 (152)
132 ILLUMINA ss3640663384 Oct 12, 2018 (152)
133 ILLUMINA ss3641164240 Oct 12, 2018 (152)
134 ILLUMINA ss3641461093 Oct 12, 2018 (152)
135 ILLUMINA ss3643442875 Oct 12, 2018 (152)
136 ILLUMINA ss3644851341 Oct 12, 2018 (152)
137 OMUKHERJEE_ADBS ss3646308774 Oct 12, 2018 (152)
138 URBANLAB ss3647759699 Oct 12, 2018 (152)
139 ILLUMINA ss3652868105 Oct 12, 2018 (152)
140 ILLUMINA ss3652868106 Oct 12, 2018 (152)
141 ILLUMINA ss3654065976 Oct 12, 2018 (152)
142 EGCUT_WGS ss3662778328 Jul 13, 2019 (153)
143 EVA_DECODE ss3712281373 Jul 13, 2019 (153)
144 ILLUMINA ss3726141593 Jul 13, 2019 (153)
145 ACPOP ss3731255552 Jul 13, 2019 (153)
146 ILLUMINA ss3744525731 Jul 13, 2019 (153)
147 ILLUMINA ss3745256362 Jul 13, 2019 (153)
148 ILLUMINA ss3745256363 Jul 13, 2019 (153)
149 EVA ss3761941531 Jul 13, 2019 (153)
150 PAGE_CC ss3771131076 Jul 13, 2019 (153)
151 ILLUMINA ss3772750970 Jul 13, 2019 (153)
152 ILLUMINA ss3772750971 Jul 13, 2019 (153)
153 PACBIO ss3784750280 Jul 13, 2019 (153)
154 PACBIO ss3790203292 Jul 13, 2019 (153)
155 PACBIO ss3795078600 Jul 13, 2019 (153)
156 KHV_HUMAN_GENOMES ss3805082288 Jul 13, 2019 (153)
157 1000Genomes NC_000004.11 - 72618334 Oct 12, 2018 (152)
158 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 72618334 Oct 12, 2018 (152)
159 Genetic variation in the Estonian population NC_000004.11 - 72618334 Oct 12, 2018 (152)
160 ExAC NC_000004.11 - 72618334 Oct 12, 2018 (152)
161 gnomAD - Genomes NC_000004.11 - 72618334 Jul 13, 2019 (153)
162 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 3662184 (NC_000004.11:72618333:A:A 120159/251206, NC_000004.11:72618333:A:C 131047/251206)
Row 3662185 (NC_000004.11:72618333:A:A 251205/251206, NC_000004.11:72618333:A:T 1/251206)

- Jul 13, 2019 (153)
163 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 3662184 (NC_000004.11:72618333:A:A 120159/251206, NC_000004.11:72618333:A:C 131047/251206)
Row 3662185 (NC_000004.11:72618333:A:A 251205/251206, NC_000004.11:72618333:A:T 1/251206)

- Jul 13, 2019 (153)
164 Northern Sweden NC_000004.11 - 72618334 Jul 13, 2019 (153)
165 The PAGE Study NC_000004.12 - 71752617 Jul 13, 2019 (153)
166 TopMed NC_000004.12 - 71752617 Oct 12, 2018 (152)
167 UK 10K study - Twins NC_000004.11 - 72618334 Oct 12, 2018 (152)
168 A Vietnamese Genetic Variation Database NC_000004.11 - 72618334 Jul 13, 2019 (153)
169 ClinVar RCV000017357.3 Jul 13, 2019 (153)
Help

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)
rs222037 Jan 04, 2002 (102)
rs1047213 Jan 18, 2001 (92)
rs3172682 Oct 08, 2002 (108)
rs3737551 Oct 08, 2002 (108)
rs17349198 May 11, 2012 (137)
rs52808188 Sep 21, 2007 (128)
rs60269151 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss82333840, ss3639248714, ss3639645511 NC_000004.9:72983368:A:C NC_000004.12:71752616:A:C (self)
ss92638050, ss108035707, ss162224417, ss166733965, ss211429228, ss277771312, ss284932028, ss293098638, ss481442749, ss491855428, ss825574105, ss1397378634, ss1589740280, ss1712680171, ss2635133157, ss3643442875 NC_000004.10:72837197:A:C NC_000004.12:71752616:A:C (self)
21626579, 12021308, 8516576, 7491408, 59075524, 4540417, 12021308, 2647632, ss220991366, ss232440815, ss239723910, ss342165190, ss481470331, ss482450321, ss485516478, ss490889031, ss491356818, ss537426293, ss557591333, ss651401283, ss778590018, ss780829511, ss783203776, ss783512396, ss784158656, ss832463789, ss833086920, ss834047201, ss974452823, ss980240884, ss1067461899, ss1071633826, ss1310214182, ss1429921240, ss1580608734, ss1584034694, ss1610325204, ss1653319237, ss1687524652, ss1711062637, ss1752530641, ss1752530642, ss1801632769, ss1917781328, ss1923483773, ss1946118564, ss1958692378, ss1969771880, ss2022328108, ss2094815814, ss2095144817, ss2150455670, ss2431600466, ss2625663255, ss2634132855, ss2705928266, ss2734557738, ss2747251985, ss2810653963, ss2985294665, ss2994896384, ss3022383061, ss3023060665, ss3345773131, ss3628987511, ss3628987512, ss3632068420, ss3633337951, ss3634057045, ss3634956087, ss3634956088, ss3635739900, ss3636659748, ss3637492420, ss3638491929, ss3640663383, ss3640663384, ss3641164240, ss3641461093, ss3644851341, ss3646308774, ss3652868105, ss3652868106, ss3654065976, ss3662778328, ss3731255552, ss3744525731, ss3745256362, ss3745256363, ss3761941531, ss3772750970, ss3772750971, ss3784750280, ss3790203292, ss3795078600 NC_000004.11:72618333:A:C NC_000004.12:71752616:A:C (self)
RCV000017357.3, 352545, 284582372, ss295469804, ss2263812157, ss3024938003, ss3432180292, ss3647759699, ss3712281373, ss3726141593, ss3771131076, ss3805082288 NC_000004.12:71752616:A:C NC_000004.12:71752616:A:C (self)
ss14604252, ss22163829, ss76896260 NT_006216.14:1125343:A:C NC_000004.12:71752616:A:C (self)
ss288475, ss489910, ss1261780, ss1283000, ss1956099, ss1977699, ss2424121, ss4393167, ss4923550, ss6903804, ss12587289, ss44554071, ss48413054, ss66689649, ss67533435, ss67903347, ss68901843, ss70904460, ss71500545, ss74813026, ss75589019, ss79243587, ss83347585, ss98836297, ss105836642, ss122676568, ss134647109, ss139688182, ss154400453, ss157430961, ss159575841, ss159707787, ss160840280, ss172237230, ss174216819, ss244307587, ss469415267, ss469996370 NT_022778.16:12829000:A:C NC_000004.12:71752616:A:C (self)
ss2734557738 NC_000004.11:72618333:A:T NC_000004.12:71752616:A:T (self)
Help

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

158 citations for rs7041
PMID Title Author Year Journal
1352271 Molecular analysis of the gene for the human vitamin-D-binding protein (group-specific component): allelic differences of the common genetic GC types. Braun A et al. 1992 Human genetics
15660291 Population structure, admixture, and aging-related phenotypes in African American adults: the Cardiovascular Health Study. Reiner AP et al. 2005 American journal of human genetics
15726497 Gene-environment interaction effects on the development of immune responses in the 1st year of life. Hoffjan S et al. 2005 American journal of human genetics
15817713 Attempted replication of reported chronic obstructive pulmonary disease candidate gene associations. Hersh CP et al. 2005 American journal of respiratory cell and molecular biology
16600026 Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway. Wjst M et al. 2006 Respiratory research
17054776 The genetics of chronic obstructive pulmonary disease. Wood AM 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
17903307 Framingham Heart Study genome-wide association: results for pulmonary function measures. Wilk JB et al. 2007 BMC medical genetics
18559548 The Gc2 allele of the vitamin D binding protein is associated with a decreased postmenopausal breast cancer risk, independent of the vitamin D status. Abbas S et al. 2008 Cancer epidemiology, biomarkers & prevention
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
19116321 Genetic polymorphisms of the vitamin D binding protein and plasma concentrations of 25-hydroxyvitamin D in premenopausal women. Sinotte M et al. 2009 The American journal of clinical nutrition
19131662 A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients. Wang X et al. 2009 Stroke
19255064 Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk. Ahn J et al. 2009 Carcinogenesis
19263529 Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach. Zee RY et al. 2009 Clinica chimica acta; international journal of clinical chemistry
19330901 Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study. Conen D et al. 2009 Journal of hypertension
19488670 Vitamin D binding protein genotype and osteoporosis. Fang Y et al. 2009 Calcified tissue international
19559392 A candidate gene association study of 77 polymorphisms in migraine. Schürks M et al. 2009 The journal of pain
19951401 Chronic obstructive pulmonary disease: towards pharmacogenetics. Wood AM et al. 2009 Genome medicine
19996341 Vitamin D deficiency is highly prevalent in COPD and correlates with variants in the vitamin D-binding gene. Janssens W et al. 2010 Thorax
20007432 Polymorphisms in vitamin D metabolism related genes and risk of multiple sclerosis. Simon KC et al. 2010 Multiple sclerosis (Houndmills, Basingstoke, England)
20086113 Genetic variation in the vitamin D receptor (VDR) and the vitamin D-binding protein (GC) and risk for colorectal cancer: results from the Colon Cancer Family Registry. Poynter JN et al. 2010 Cancer epidemiology, biomarkers & prevention
20363324 A systematic review of the association between common single nucleotide polymorphisms and 25-hydroxyvitamin D concentrations. McGrath JJ et al. 2010 The Journal of steroid biochemistry and molecular biology
20418485 Genome-wide association study of circulating vitamin D levels. Ahn J et al. 2010 Human molecular genetics
20541252 Common genetic determinants of vitamin D insufficiency: a genome-wide association study. Wang TJ et al. 2010 Lancet (London, England)
20600896 Genome-wide association study of vitamin D concentrations in Hispanic Americans: the IRAS family study. Engelman CD et al. 2010 The Journal of steroid biochemistry and molecular biology
20812960 Vitamin D-binding protein polymorphisms are not associated with development of (multiple) basal cell carcinomas. Flohil SC et al. 2010 Experimental dermatology
21138591 Effect modification of air pollution on Urinary 8-Hydroxy-2'-Deoxyguanosine by genotypes: an application of the multiple testing procedure to identify significant SNP interactions. Ren C et al. 2010 Environmental health
21228423 Vitamin D-binding protein contributes to COPD by activation of alveolar macrophages. Wood AM et al. 2011 Thorax
21273692 Comparing genetic ancestry and self-reported race/ethnicity in a multiethnic population in New York City. Lee YL et al. 2010 Journal of genetics
21357399 Vitamin D receptor (VDR) and group-specific component (GC, vitamin D-binding protein) polymorphisms in myopia. Mutti DO et al. 2011 Investigative ophthalmology & visual science
21430387 Nutrigenomics, vitamin D and cancer prevention. Davis CD et al. 2011 Journal of nutrigenetics and nutrigenomics
21431378 Genetic predictors of 25-hydroxyvitamin D levels and risk of multiple sclerosis. Simon KC et al. 2011 Journal of neurology
21441443 Inherited variation in vitamin D genes is associated with predisposition to autoimmune disease type 1 diabetes. Cooper JD et al. 2011 Diabetes
21693626 Vitamin D-related genetic variants, interactions with vitamin D exposure, and breast cancer risk among Caucasian women in Ontario. Anderson LN et al. 2011 Cancer epidemiology, biomarkers & prevention
21754915 Capitalizing on admixture in genome-wide association studies: a two-stage testing procedure and application to height in African-Americans. Kang G et al. 2011 Frontiers in genetics
21810276 Vitamin D binding protein variants associate with asthma susceptibility in the Chinese Han population. Li F et al. 2011 BMC medical genetics
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
21844098 Reduced serum vitamin D-binding protein levels are associated with type 1 diabetes. Blanton D et al. 2011 Diabetes
21877163 The Rotterdam Study: 2012 objectives and design update. Hofman A et al. 2011 European journal of epidemiology
21972121 Associations between common variants in GC and DHCR7/NADSYN1 and vitamin D concentration in Chinese Hans. Lu L et al. 2012 Human genetics
22129377 Nutrigenomics and personalized diets: What will they mean for food? German JB et al. 2011 Annual review of food science and technology
22144504 Polymorphic variation in the GC and CASR genes and associations with vitamin D metabolite concentration and metachronous colorectal neoplasia. Hibler EA et al. 2012 Cancer epidemiology, biomarkers & prevention
22205958 Common variation in vitamin D pathway genes predicts circulating 25-hydroxyvitamin D Levels among African Americans. Signorello LB et al. 2011 PloS one
22213340 25-hydroxyvitamin D, vitamin D receptor gene polymorphisms, and severity of Parkinson's disease. Suzuki M et al. 2012 Movement disorders
22576141 No association of vitamin D metabolism-related polymorphisms and melanoma risk as well as melanoma prognosis: a case-control study. Schäfer A et al. 2012 Archives of dermatological research
22583563 Genetic and environmental predictors of serum 25-hydroxyvitamin D concentrations among middle-aged and elderly Chinese in Singapore. Robien K et al. 2013 The British journal of nutrition
22610885 Vitamin D binding protein gene polymorphisms and baseline vitamin D levels as predictors of antiviral response in chronic hepatitis C. Falleti E et al. 2012 Hepatology (Baltimore, Md.)
22649517 Polymorphisms related to the serum 25-hydroxyvitamin D level and risk of myocardial infarction, diabetes, cancer and mortality. The Tromsø Study. Jorde R et al. 2012 PloS one
22769019 Association of inflammatory gene polymorphisms with ischemic stroke in a Chinese Han population. Zhao N et al. 2012 Journal of neuroinflammation
23185470 Vitamin D in a northern Canadian first nation population: dietary intake, serum concentrations and functional gene polymorphisms. Larcombe L et al. 2012 PloS one
23427793 Common variants of the vitamin D binding protein gene and adverse health outcomes. Malik S et al. 2013 Critical reviews in clinical laboratory sciences
23456391 Serum vitamin D metabolites in colorectal cancer patients receiving cholecalciferol supplementation: correlation with polymorphisms in the vitamin D genes. Muindi JR et al. 2013 Hormones & cancer
23505139 An analysis of the association between the vitamin D pathway and serum 25-hydroxyvitamin D levels in a healthy Chinese population. Zhang Z et al. 2013 Journal of bone and mineral research
23730842 Association of vitamin D serum levels and its common genetic determinants, with severity of liver fibrosis in genotype 1 chronic hepatitis C patients. Petta S et al. 2013 Journal of viral hepatitis
23833127 Pesticide exposure and inherited variants in vitamin d pathway genes in relation to prostate cancer. Karami S et al. 2013 Cancer epidemiology, biomarkers & prevention
24200978 Serum 25(OH)D and vitamin D status in relation to VDR, GC and CYP2R1 variants in Chinese. Li LH et al. 2014 Endocrine journal
24447085 Vitamin D-binding protein haplotype is associated with hospitalization for RSV bronchiolitis. Randolph AG et al. 2014 Clinical and experimental allergy
24472850 Associations between vitamin D-binding protein isotypes, circulating 25(OH)D levels, and vitamin D metabolite uptake in colon cancer cells. Hibler EA et al. 2014 Cancer prevention research (Philadelphia, Pa.)
24516573 Vitamin D levels vary during antiviral treatment but are unable to predict treatment outcome in HCV genotype 1 infected patients. Grammatikos G et al. 2014 PloS one
24663808 A serum 25-hydroxyvitamin D concentration-associated genetic variant in DHCR7 interacts with type 2 diabetes status to influence subclinical atherosclerosis (measured by carotid intima-media thickness). Strawbridge RJ et al. 2014 Diabetologia
24735339 Association of group component genetic variations in COPD and COPD exacerbation in a Japanese population. Ishii T et al. 2014 Respirology (Carlton, Vic.)
24768180 Vitamin-D pathway genes and HIV-1 disease progression in injection drug users. Laplana M et al. 2014 Gene
24868205 Vitamin D Binding Protein Impact on 25-Hydroxyvitamin D Levels under Different Physiologic and Pathologic Conditions. Yousefzadeh P et al. 2014 International journal of endocrinology
25046415 The functional polymorphisms of VDR, GC and CYP2R1 are involved in the pathogenesis of autoimmune thyroid diseases. Inoue N et al. 2014 Clinical and experimental immunology
25211176 Determinants of vitamin D status in Caucasian adults: influence of sun exposure, dietary intake, sociodemographic, lifestyle, anthropometric, and genetic factors. Touvier M et al. 2015 The Journal of investigative dermatology
25234352 Genetic and environmental influences on plasma vitamin D binding protein concentrations. Wilson RT et al. 2015 Translational research
25405862 Vitamin D insufficiency in Arabs and South Asians positively associates with polymorphisms in GC and CYP2R1 genes. Elkum N et al. 2014 PloS one
25488826 Associations of vitamin D pathway genes with circulating 25-hydroxyvitamin-D, 1,25-dihydroxyvitamin-D, and prostate cancer: a nested case-control study. Gilbert R et al. 2015 Cancer causes & control
25533295 Genetic and environmental determinants of 25-hydroxyvitamin D levels in multiple sclerosis. Laursen JH et al. 2015 Multiple sclerosis (Houndmills, Basingstoke, England)
25541958 Association of single nucleotide polymorphisms in VDR and DBP genes with HBV-related hepatocellular carcinoma risk in a Chinese population. Peng Q et al. 2014 PloS one
25587543 T-cell cytokine gene polymorphisms and vitamin D pathway gene polymorphisms in end-stage renal disease due to type 2 diabetes mellitus nephropathy: comparisons with health status and other main causes of end-stage renal disease. Grzegorzewska AE et al. 2014 Journal of diabetes research
25652210 Vitamin D binding protein genotype is associated with plasma 25OHD concentration in West African children. Braithwaite VS et al. 2015 Bone
25920689 The associations of 25-hydroxyvitamin D levels, vitamin D binding protein gene polymorphisms, and race with risk of incident fracture-related hospitalization: Twenty-year follow-up in a bi-ethnic cohort (the ARIC Study). Takiar R et al. 2015 Bone
25926504 Race, vitamin D-binding protein gene polymorphisms, 25-hydroxyvitamin D, and incident diabetes: the Atherosclerosis Risk in Communities (ARIC) Study. Reis JP et al. 2015 The American journal of clinical nutrition
25941991 25-hydroxyvitamin D levels, vitamin D binding protein gene polymorphisms and incident coronary heart disease among whites and blacks: The ARIC study. Michos ED et al. 2015 Atherosclerosis
25962507 Vitamin D, vitamin D binding protein gene polymorphisms, race and risk of incident stroke: the Atherosclerosis Risk in Communities (ARIC) study. Schneider AL et al. 2015 European journal of neurology
25993607 Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder. Genetics of Personality Consortium. et al. 2015 JAMA psychiatry
26067474 Association of vitamin D binding protein polymorphisms with bronchopulmonary dysplasia: a case-control study of gc globulin and bronchopulmonary dysplasia. Serce Pehlevan O et al. 2015 Journal of perinatology
26193879 Genotype-independent association between profound vitamin D deficiency and delayed sputum smear conversion in pulmonary tuberculosis. Junaid K et al. 2015 BMC infectious diseases
26260969 Polymorphisms affecting vitamin D-binding protein modify the relationship between serum vitamin D (25[OH]D3) and food allergy. Koplin JJ et al. 2016 The Journal of allergy and clinical immunology
26317560 Bioavailable Vitamin D in Obese Children: The Role of Insulin Resistance. Miraglia del Giudice E et al. 2015 The Journal of clinical endocrinology and metabolism
26356094 Critically Ill Children Have Low Vitamin D-Binding Protein, Influencing Bioavailability of Vitamin D. Madden K et al. 2015 Annals of the American Thoracic Society
26364161 Meta-analysis of vitamin D-binding protein and cancer risk. Tagliabue E et al. 2015 Cancer epidemiology, biomarkers & prevention
26380769 Vitamin D binding protein gene polymorphisms and chronic obstructive pulmonary disease: a meta-analysis. Chen H et al. 2015 Journal of thoracic disease
26383826 Association of rs7041 and rs4588 Polymorphisms of the Vitamin D Binding Protein and the rs10741657 Polymorphism of CYP2R1 with Vitamin D Status Among Jordanian Patients. Lafi ZM et al. 2015 Genetic testing and molecular biomarkers
26398313 Polymorphic variants in vitamin D signaling pathway genes and the risk of endometriosis-associated infertility. Szczepańska M et al. 2015 Molecular medicine reports
26404398 Hypovitaminosis D in a Young Lebanese Population: Effect of GC Gene Polymorphisms on Vitamin D and Vitamin D Binding Protein Levels. Medlej-Hashim M et al. 2015 Annals of human genetics
26497592 The rs1803274 polymorphism of the BCHE gene is associated with an increased risk of coronary in-stent restenosis. Pleva L et al. 2015 BMC cardiovascular disorders
26610845 Association of Retinoid X Receptor Alpha Gene Polymorphism with Clinical Course of Chronic Glomerulonephritis. Grzegorzewska AE et al. 2015 Medical science monitor
26872154 Low Vitamin-D Levels Combined with PKP3-SIGIRR-TMEM16J Host Variants Is Associated with Tuberculosis and Death in HIV-Infected and -Exposed Infants. Gupta A et al. 2016 PloS one
26881316 Independent associations of polymorphisms in vitamin D binding protein (GC) and vitamin D receptor (VDR) genes with obesity and plasma 25OHD3 levels demonstrate sex dimorphism. Almesri N et al. 2016 Applied physiology, nutrition, and metabolism = Physiologie appliquee, nutrition et metabolisme
26893716 Polymorphic variants in the vitamin D pathway genes and the risk of ovarian cancer among non-carriers of <i>BRCA1/BRCA2</i> mutations. Mostowska A et al. 2016 Oncology letters
26962819 GC Gene Polymorphism and Unbound Serum Retinol-Binding Protein 4 Are Related to the Risk of Insulin Resistance in Patients With Chronic Hepatitis C: A Prospective Cross-Sectional Study. Mateos-Muñoz B et al. 2016 Medicine
27032714 Admixture mapping of serum vitamin D and parathyroid hormone concentrations in the African American-Diabetes Heart Study. Palmer ND et al. 2016 Bone
27116295 Serum Bioavailable Vitamin D Concentrations and Bone Mineral Density in Women After Obesity Surgery. Botella-Carretero JI et al. 2016 Obesity surgery
27154872 Vitamin D status in primary hyperparathyroidism: effect of genetic background. Battista C et al. 2017 Endocrine
27160686 Vitamin D deficiency associates with susceptibility to tuberculosis in Pakistan, but polymorphisms in VDR, DBP and CYP2R1 do not. Junaid K et al. 2016 BMC pulmonary medicine
27532455 Common Genetic Polymorphisms Influence Blood Biomarker Measurements in COPD. Sun W et al. 2016 PLoS genetics
27570856 Genetic influence on circulating vitamin D among Saudi Arabians. Sadat-Ali M et al. 2016 Saudi medical journal
27625044 Genetically Low Vitamin D Levels, Bone Mineral Density, and Bone Metabolism Markers: a Mendelian Randomisation Study. Li SS et al. 2016 Scientific reports
27642296 Polymorphisms of Vitamin D Signaling Pathway Genes and Calcium-Sensing Receptor Gene in respect to Survival of Hemodialysis Patients: A Prospective Observational Study. Grzegorzewska AE et al. 2016 International journal of endocrinology
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
27721113 A vitamin D pathway gene-gene interaction affects low-density lipoprotein cholesterol levels. Grave N et al. 2016 The Journal of nutritional biochemistry
27736940 Vitamin D Receptor Gene Polymorphism and the Risk of Colorectal Cancer: A Nested Case-Control Study. Budhathoki S et al. 2016 PloS one
27768857 Effects of Genetic and Nongenetic Factors on Total and Bioavailable 25(OH)D Responses to Vitamin D Supplementation. Yao P et al. 2017 The Journal of clinical endocrinology and metabolism
27871082 Self-Reported Physical Activity, Quality of Life, and Psychological Status in Relation to Plasma 25-Hydroxyvitamin D Concentration in Patients Treated with Hemodialysis. Grzegorzewska AE et al. 2016 Kidney & blood pressure research
27919752 Bioavailable 25(OH)D but Not Total 25(OH)D Is an Independent Determinant for Bone Mineral Density in Chinese Postmenopausal Women. Li C et al. 2017 EBioMedicine
28008453 Association of VDBP and CYP2R1 gene polymorphisms with vitamin D status in women with polycystic ovarian syndrome: a north Indian study. Haldar D et al. 2018 European journal of nutrition
28061456 Vitamin D receptor polymorphisms or serum levels as key drivers of breast cancer development? The question of the vitamin D pathway. Amadori D et al. 2017 Oncotarget
28241988 Effects of maternal genetic polymorphisms in vitamin D-binding protein and serum 25-hydroxyvitamin D concentration on infant birth weight. Chun SK et al. 2017 Nutrition (Burbank, Los Angeles County, Calif.)
28278285 Genetic variant in vitamin D-binding protein is associated with metabolic syndrome and lower 25-hydroxyvitamin D levels in polycystic ovary syndrome: A cross-sectional study. Santos BR et al. 2017 PloS one
28284354 Vitamin D-binding protein gene polymorphisms are not associated with MS risk in an Italian cohort. Agliardi C et al. 2017 Journal of neuroimmunology
28291736 Association of vitamin-D-related genetic variations and treatment response to pegylated interferon in patients with chronic hepatitis B. Limothai U et al. 2017 Antiviral therapy
28296915 Genetic variation in the vitamin D pathway CYP2R1 gene predicts sustained HBeAg seroconversion in chronic hepatitis B patients treated with pegylated interferon: A multicenter study. Thanapirom K et al. 2017 PloS one
28382877 Common genetic variants are associated with lower serum 25-hydroxyvitamin D concentrations across the year among children at northern latitudes. Petersen RA et al. 2017 The British journal of nutrition
28415985 Vitamin D-related gene polymorphism predict treatment response to pegylated interferon-based therapy in Thai chronic hepatitis C patients. Thanapirom K et al. 2017 BMC gastroenterology
28433569 Vitamin D Binding Protein rs7041 polymorphism and high-residual platelet reactivity in patients receiving dual antiplatelet therapy with clopidogrel or ticagrelor. Verdoia M et al. 2017 Vascular pharmacology
28590769 Associations of Genetic Polymorphisms Relevant to Metabolic Pathway of Vitamin D3 with Development and Prognosis of Childhood Bronchial Asthma. Zhang Y et al. 2017 DNA and cell biology
28703134 Genetic variants underlying vitamin D metabolism and VDR-TGFβ-1-SMAD3 interaction may impact on HCV progression: a study based on dbGaP data from the HALT-C study. de Azevedo LA et al. 2017 Journal of human genetics
28779988 Impact of polymorphism rs7041 and rs4588 of Vitamin D Binding Protein on the extent of coronary artery disease. Daffara V et al. 2017 Nutrition, metabolism, and cardiovascular diseases
28809744 Effect of Vitamin D Serum Levels and GC Gene Polymorphisms in Liver Fibrosis Due to Chronic Hepatitis C. Azevedo LA et al. 2017 Annals of hepatology
28888576 Association of vitamin D and vitamin D binding protein (DBP) gene polymorphism with susceptibility of type 2 diabetes mellitus in Bangladesh. Rahman MM et al. 2017 Gene
29153269 Vitamin D pathway gene polymorphisms influenced vitamin D level among pregnant women. Shao B et al. 2018 Clinical nutrition (Edinburgh, Scotland)
29165650 Evaluation of 1,25-dihydroxyvitamin D3 pathway in patients with chronic urticaria. Nasiri-Kalmarzi R et al. 2018 QJM
29175129 Vitamin D metabolic loci and vitamin D status in Black and White pregnant women. Baca KM et al. 2018 European journal of obstetrics, gynecology, and reproductive biology
29196501 Vitamin D binding protein rs7041 genotype alters vitamin D metabolism in pregnant women. Ganz AB et al. 2018 FASEB journal
29220424 Genetically deprived vitamin D exposure predisposes to atrial fibrillation. Chan YH et al. 2017 Europace
29291743 SNPs related to vitamin D and breast cancer risk: a case-control study. Huss L et al. 2018 Breast cancer research
29316495 VDR and GC gene polymorphisms modulate the risk of lumbar disc degeneration in Iran. Mashayekhi S et al. 2018 Clinical neurology and neurosurgery
29414925 Vitamin D-Binding Protein Polymorphisms, 25-Hydroxyvitamin D, Sunshine and Multiple Sclerosis. Langer-Gould A et al. 2018 Nutrients
29465575 Impact of vitamin D receptor and binding protein gene polymorphisms in clinical and laboratory data of HCV patients: Cross sectional study. Scalioni LP et al. 2018 Medicine
29476721 C3-epimerization of 25-hydroxyvitamin D increases with increasing serum 25-hydroxyvitamin D levels and shows a high degree of tracking over time. Kubiak JM et al. 2018 Clinical biochemistry
29502202 Association Between Vitamin D Metabolism Gene Polymorphisms and Risk of Tunisian Adults' Asthma. Lahmar O et al. 2018 Lung
29504805 Vitamin D-binding protein and its polymorphisms as a predictor for metabolic syndrome. Karuwanarint P et al. 2018 Biomarkers in medicine
29506625 VDBP, VDR Mutations and Other Factors Related With Vitamin D Metabolism May Be Associated With Type 1 Diabetes Mellitus. Kirac D et al. 2018 Cellular and molecular biology (Noisy-le-Grand, France)
29514138 Effects of Gene Variants Controlling Vitamin D Metabolism and Serum Levels on Hepatic Steatosis. Jamka M et al. 2018 Digestion
29685792 Genomic Response to Vitamin D Supplementation in the Setting of a Randomized, Placebo-Controlled Trial. Berlanga-Taylor AJ et al. 2018 EBioMedicine
29993274 The Association Between Vitamin D Binding Protein Polymorphisms and Vitamin D Level on Epilepsy in China. Wang H et al. 2018 DNA and cell biology
30018118 Vitamin D Supplementation and Survival of Patients with Non-small Cell Lung Cancer: A Randomized, Double-Blind, Placebo-Controlled Trial. Akiba T et al. 2018 Clinical cancer research
30083974 Association of vitamin D binding protein and vitamin D receptor gene polymorphisms in Iranian patients with chronic periodontitis. Nazemisalman B et al. 2019 Odontology
30093573 The vitamin D binding protein axis modifies disease severity in lymphangioleiomyomatosis. Miller S et al. 2018 The European respiratory journal
30184533 A High-Protein/Low-Fat Diet May Interact with Vitamin D-Binding Protein Gene Variants to Moderate the Risk of Depression in Apparently Healthy Adults. Pooyan S et al. 2018 Lifestyle genomics
30218750 Vitamin D binding protein polymorphisms influence susceptibility to hepatitis C virus infection in a high-risk Chinese population. Xie CN et al. 2018 Gene
30548492 Association of group-specific component exon 11 polymorphisms with bronchial asthma in children and adolescents. Fawzy MS et al. 2019 Scandinavian journal of immunology
30581332 Association Between Two Common Polymorphisms of Vitamin D Binding Protein and the Risk of Coronary Artery Disease: A Case-control Study. Tarighi S et al. 2017 Journal of medical biochemistry
30651747 The <i>GC2</i> haplotype of the vitamin D binding protein is a risk factor for a low plasma 25-hydroxyvitamin D concentration in a Han Chinese population. Zhou JC et al. 2019 Nutrition & metabolism
30668751 Modifiers of Plasma 25-Hydroxyvitamin D and Chronic Kidney Disease Outcomes in Black Americans: The Jackson Heart Study. Lunyera J et al. 2019 The Journal of clinical endocrinology and metabolism
30774661 Clinical Usefulness of Bioavailable Vitamin D and Impact of <i>GC</i> Genotyping on the Determination of Bioavailable Vitamin D in a Korean Population. Kim HY et al. 2019 International journal of endocrinology
30782293 Different VDR, VDBP genotypes and vitamin D levels may effect obstructive sleep apnea syndrome. Kirac D et al. 2019 Cellular and molecular biology (Noisy-le-Grand, France)
30886976 Vitamin D in individuals before onset of rheumatoid arthritis - relation to vitamin D binding protein and its associated genetic variants. Brink M et al. 2018 BMC rheumatology
30889212 Total 25-hydroxy vitamin D level in cerebrospinal fluid correlates with serum total, bioavailable, and free 25-hydroxy vitamin D levels in Korean population. Lee DH et al. 2019 PloS one
30959383 Efficacy of vitamin D supplementation according to vitamin D-binding protein polymorphisms. Al-Daghri NM et al. 2019 Nutrition (Burbank, Los Angeles County, Calif.)
30982131 Cerebrospinal fluid vitamin D-binding protein as a new biomarker for the diagnosis of meningitis. Lee DH et al. 2019 Neurological sciences
30987555 The Association between Vitamin D Deficiency and variants of Vitamin D Binding protein gene among Healthy Iranian Adults. Pooyan S et al. 2019 International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutrition
31007727 Interactions between vitamin D binding protein variants and major dietary patterns on the odds of metabolic syndrome and its components in apparently healthy adults. Rahimi MH et al. 2019 Diabetology & metabolic syndrome
31030503 Vitamin D-Binding protein Gene Polymorphism Predicts Pegylated Interferon-Related HBsAg Seroclearance in HBeAg-Negative Thai Chronic Hepatitis B Patients: A Multicentre Study Thanapirom K et al. 2019 Asian Pacific journal of cancer prevention
31153533 Effect of Vitamin D Serum Levels and GC Gene Polymorphisms in Liver Fibrosis Due to Chronic Hepatitis C. Azevedo LA et al. 2017 Annals of hepatology
31156695 Systematic Review and Meta-Analysis to Establish the Association of Common Genetic Variations in Vitamin D Binding Protein With Chronic Obstructive Pulmonary Disease. Khanna R et al. 2019 Frontiers in genetics

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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