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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.


Current Build 152

Released October 2, 2018

Homo sapiens
chr4:102267552 (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.

C>A / C>T
Variation Type
SNV Single Nucleotide Variation
T=0.04503 (11052/245458, GnomAD)
T=0.04833 (6069/125568, TOPMED)
T=0.0418 (1296/30970, GnomAD) (+ 5 more)
T=0.0553 (719/13006, GO-ESP)
T=0.024 (118/5008, 1000G)
T=0.035 (155/4480, Estonian)
T=0.065 (250/3854, ALSPAC)
T=0.079 (293/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SLC39A8 : Missense Variant
34 citations
Genomic View
See rs on genome

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.102267552C>A
GRCh38.p12 chr 4 NC_000004.12:g.102267552C>T
GRCh37.p13 chr 4 NC_000004.11:g.103188709C>A
GRCh37.p13 chr 4 NC_000004.11:g.103188709C>T
SLC39A8 RefSeqGene NG_047177.1:g.82947G>T
SLC39A8 RefSeqGene NG_047177.1:g.82947G>A
Gene: SLC39A8, solute carrier family 39 member 8 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SLC39A8 transcript variant 1 NM_022154.5:c.1171G>T A [GCT] > S [TCT] Coding Sequence Variant
zinc transporter ZIP8 isoform a precursor NP_071437.3:p.Ala391Ser A (Ala) > S (Ser) Missense Variant
SLC39A8 transcript variant 1 NM_022154.5:c.1171G>A A [GCT] > T [ACT] Coding Sequence Variant
zinc transporter ZIP8 isoform a precursor NP_071437.3:p.Ala391Thr A (Ala) > T (Thr) Missense Variant
SLC39A8 transcript variant 2 NM_001135146.1:c.1171G>T A [GCT] > S [TCT] Coding Sequence Variant
zinc transporter ZIP8 isoform a precursor NP_001128618.1:p.Ala391Ser A (Ala) > S (Ser) Missense Variant
SLC39A8 transcript variant 2 NM_001135146.1:c.1171G>A A [GCT] > T [ACT] Coding Sequence Variant
zinc transporter ZIP8 isoform a precursor NP_001128618.1:p.Ala391Thr A (Ala) > T (Thr) Missense Variant
SLC39A8 transcript variant 3 NM_001135147.1:c.1171G>T A [GCT] > S [TCT] Coding Sequence Variant
zinc transporter ZIP8 isoform b precursor NP_001128619.1:p.Ala391Ser A (Ala) > S (Ser) Missense Variant
SLC39A8 transcript variant 3 NM_001135147.1:c.1171G>A A [GCT] > T [ACT] Coding Sequence Variant
zinc transporter ZIP8 isoform b precursor NP_001128619.1:p.Ala391Thr A (Ala) > T (Thr) Missense Variant
SLC39A8 transcript variant 4 NM_001135148.1:c.970G>T A [GCT] > S [TCT] Coding Sequence Variant
zinc transporter ZIP8 isoform c NP_001128620.1:p.Ala324Ser A (Ala) > S (Ser) Missense Variant
SLC39A8 transcript variant 4 NM_001135148.1:c.970G>A A [GCT] > T [ACT] Coding Sequence Variant
zinc transporter ZIP8 isoform c NP_001128620.1:p.Ala324Thr A (Ala) > T (Thr) Missense Variant
SLC39A8 transcript variant X3 XM_024454183.1:c. N/A Genic Downstream Transcript Variant
SLC39A8 transcript variant X2 XM_017008541.1:c.970G>T A [GCT] > S [TCT] Coding Sequence Variant
zinc transporter ZIP8 isoform X2 XP_016864030.1:p.Ala324Ser A (Ala) > S (Ser) Missense Variant
SLC39A8 transcript variant X2 XM_017008541.1:c.970G>A A [GCT] > T [ACT] Coding Sequence Variant
zinc transporter ZIP8 isoform X2 XP_016864030.1:p.Ala324Thr A (Ala) > T (Thr) Missense Variant
SLC39A8 transcript variant X1 XM_005263177.2:c.1171G>T A [GCT] > S [TCT] Coding Sequence Variant
zinc transporter ZIP8 isoform X1 XP_005263234.1:p.Ala391Ser A (Ala) > S (Ser) Missense Variant
SLC39A8 transcript variant X1 XM_005263177.2:c.1171G>A A [GCT] > T [ACT] Coding Sequence Variant
zinc transporter ZIP8 isoform X1 XP_005263234.1:p.Ala391Thr A (Ala) > T (Thr) Missense Variant
SLC39A8 transcript variant X4 XM_024454184.1:c.1171G>T A [GCT] > S [TCT] Coding Sequence Variant
zinc transporter ZIP8 isoform X4 XP_024309952.1:p.Ala391Ser A (Ala) > S (Ser) Missense Variant
SLC39A8 transcript variant X4 XM_024454184.1:c.1171G>A A [GCT] > T [ACT] Coding Sequence Variant
zinc transporter ZIP8 isoform X4 XP_024309952.1:p.Ala391Thr A (Ala) > T (Thr) Missense 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

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").

Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 245458 C=0.95497 A=0.00000, T=0.04503
gnomAD - Exomes European Sub 133498 C=0.94071 A=0.00001, T=0.05928
gnomAD - Exomes Asian Sub 47918 C=0.9978 A=0.0000, T=0.0022
gnomAD - Exomes American Sub 33506 C=0.9628 A=0.0000, T=0.0372
gnomAD - Exomes African Sub 15252 C=0.9875 A=0.0000, T=0.0125
gnomAD - Exomes Ashkenazi Jewish Sub 9812 C=0.868 A=0.000, T=0.132
gnomAD - Exomes Other Sub 5472 C=0.945 A=0.000, T=0.055
TopMed Global Study-wide 125568 C=0.95167 T=0.04833
gnomAD - Genomes Global Study-wide 30970 C=0.9582 T=0.0418
gnomAD - Genomes European Sub 18500 C=0.9451 T=0.0549
gnomAD - Genomes African Sub 8728 C=0.983 T=0.017
gnomAD - Genomes East Asian Sub 1622 C=1.000 T=0.000
gnomAD - Genomes Other Sub 980 C=0.95 T=0.05
gnomAD - Genomes American Sub 838 C=0.95 T=0.05
gnomAD - Genomes Ashkenazi Jewish Sub 302 C=0.87 T=0.13
GO Exome Sequencing Project Global Study-wide 13006 C=0.9447 T=0.0553
GO Exome Sequencing Project European American Sub 8600 C=0.924 T=0.076
GO Exome Sequencing Project African American Sub 4406 C=0.985 T=0.015
1000Genomes Global Study-wide 5008 C=0.976 T=0.024
1000Genomes African Sub 1322 C=0.998 T=0.002
1000Genomes East Asian Sub 1008 C=1.000 T=0.000
1000Genomes Europe Sub 1006 C=0.920 T=0.080
1000Genomes South Asian Sub 978 C=1.00 T=0.00
1000Genomes American Sub 694 C=0.95 T=0.05
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.965 T=0.035
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.935 T=0.065
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.921 T=0.079

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

Placement C= A T Note
GRCh38.p12 chr 4 NC_000004.12:g.10...






GRCh37.p13 chr 4 NC_000004.11:g.10...






SLC39A8 RefSeqGene NG_047177.1:g.829...






SLC39A8 transcript variant 1 NM_022154.5:c.1171G= NM_022154.5:c.117...




SLC39A8 transcript variant 3 NM_001135147.1:c....






SLC39A8 transcript variant 2 NM_001135146.1:c....






SLC39A8 transcript variant 4 NM_001135148.1:c....






SLC39A8 transcript variant X1 XM_005263177.2:c....






SLC39A8 transcript variant X1 XM_005263177.1:c....






SLC39A8 transcript variant X2 XM_017008541.1:c....






SLC39A8 transcript variant X4 XM_024454184.1:c....






zinc transporter ZIP8 isoform a precursor NP_071437.3:p.Ala...






zinc transporter ZIP8 isoform b precursor NP_001128619.1:p....






zinc transporter ZIP8 isoform a precursor NP_001128618.1:p....






zinc transporter ZIP8 isoform c NP_001128620.1:p....






zinc transporter ZIP8 isoform X1 XP_005263234.1:p....






zinc transporter ZIP8 isoform X2 XP_016864030.1:p....






zinc transporter ZIP8 isoform X4 XP_024309952.1:p....







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#.

98 SubSNP, 10 Frequency submissions
No Submitter Submission ID Date (Build)
1 SSAHASNP ss22057205 Apr 05, 2004 (121)
2 PERLEGEN ss24413604 Sep 20, 2004 (123)
3 ABI ss44484915 Mar 13, 2006 (126)
4 ILLUMINA ss66574845 Nov 29, 2006 (127)
5 ILLUMINA ss67057690 Nov 29, 2006 (127)
6 ILLUMINA ss67384929 Nov 29, 2006 (127)
7 PERLEGEN ss68906736 May 16, 2007 (127)
8 ILLUMINA ss70419281 May 16, 2007 (127)
9 ILLUMINA ss70594271 May 25, 2008 (130)
10 ILLUMINA ss71138431 May 16, 2007 (127)
11 AFFY ss74821369 Aug 16, 2007 (128)
12 ILLUMINA ss74937991 Dec 06, 2007 (129)
13 AFFY ss76801384 Dec 06, 2007 (129)
14 KRIBB_YJKIM ss85300544 Dec 15, 2007 (130)
15 HUMANGENOME_JCVI ss98849473 Feb 06, 2009 (130)
16 ILLUMINA ss121619951 Dec 01, 2009 (131)
17 ENSEMBL ss135201252 Dec 01, 2009 (131)
18 ILLUMINA ss153317532 Dec 01, 2009 (131)
19 ILLUMINA ss159245129 Dec 01, 2009 (131)
20 SEATTLESEQ ss159708155 Dec 01, 2009 (131)
21 ILLUMINA ss160317464 Dec 01, 2009 (131)
22 ILLUMINA ss170291605 Jul 04, 2010 (132)
23 ILLUMINA ss172327043 Jul 04, 2010 (132)
24 1000GENOMES ss232523663 Jul 14, 2010 (132)
25 PJP ss293151589 May 09, 2011 (134)
26 NHLBI-ESP ss342168595 May 09, 2011 (134)
27 ILLUMINA ss410903650 Sep 17, 2011 (135)
28 ILLUMINA ss479871116 May 04, 2012 (137)
29 ILLUMINA ss479878884 May 04, 2012 (137)
30 ILLUMINA ss480486501 Sep 08, 2015 (146)
31 ILLUMINA ss484734029 May 04, 2012 (137)
32 1000GENOMES ss490892191 May 04, 2012 (137)
33 EXOME_CHIP ss491359038 May 04, 2012 (137)
34 CLINSEQ_SNP ss491857979 May 04, 2012 (137)
35 ILLUMINA ss533059421 Sep 08, 2015 (146)
36 ILLUMINA ss536832220 Sep 08, 2015 (146)
37 ILLUMINA ss778795663 Sep 08, 2015 (146)
38 ILLUMINA ss780831233 Sep 08, 2015 (146)
39 ILLUMINA ss782813712 Sep 08, 2015 (146)
40 ILLUMINA ss783514193 Sep 08, 2015 (146)
41 ILLUMINA ss783778905 Sep 08, 2015 (146)
42 ILLUMINA ss825388555 Jul 19, 2016 (147)
43 ILLUMINA ss832066949 Sep 08, 2015 (146)
44 ILLUMINA ss834255763 Sep 08, 2015 (146)
45 EVA-GONL ss980473766 Aug 21, 2014 (142)
46 1000GENOMES ss1311060795 Aug 21, 2014 (142)
47 HAMMER_LAB ss1397384075 Sep 08, 2015 (146)
48 EVA_GENOME_DK ss1580696540 Apr 01, 2015 (144)
49 EVA_FINRISK ss1584035609 Apr 01, 2015 (144)
50 EVA_DECODE ss1589978371 Apr 01, 2015 (144)
51 EVA_UK10K_ALSPAC ss1610782593 Apr 01, 2015 (144)
52 EVA_UK10K_TWINSUK ss1653776626 Apr 01, 2015 (144)
53 EVA_EXAC ss1687589002 Apr 01, 2015 (144)
54 EVA_EXAC ss1687589003 Apr 01, 2015 (144)
55 EVA_MGP ss1711067664 Apr 01, 2015 (144)
56 ILLUMINA ss1752490063 Sep 08, 2015 (146)
57 ILLUMINA ss1752490064 Sep 08, 2015 (146)
58 ILLUMINA ss1917783277 Feb 12, 2016 (147)
59 WEILL_CORNELL_DGM ss1923713143 Feb 12, 2016 (147)
60 ILLUMINA ss1946123472 Feb 12, 2016 (147)
61 ILLUMINA ss1958708525 Feb 12, 2016 (147)
62 JJLAB ss2022442638 Sep 14, 2016 (149)
63 ILLUMINA ss2095147184 Dec 20, 2016 (150)
64 USC_VALOUEV ss2150571820 Dec 20, 2016 (150)
65 HUMAN_LONGEVITY ss2265597991 Dec 20, 2016 (150)
66 TOPMED ss2433419086 Dec 20, 2016 (150)
67 ILLUMINA ss2634157218 Nov 08, 2017 (151)
68 ILLUMINA ss2711012213 Nov 08, 2017 (151)
69 GNOMAD ss2734657847 Nov 08, 2017 (151)
70 GNOMAD ss2747281175 Nov 08, 2017 (151)
71 GNOMAD ss2813087498 Nov 08, 2017 (151)
72 AFFY ss2985299306 Nov 08, 2017 (151)
73 AFFY ss2985927293 Nov 08, 2017 (151)
74 SWEGEN ss2995244614 Nov 08, 2017 (151)
75 BIOINF_KMB_FNS_UNIBA ss3024996870 Nov 08, 2017 (151)
76 TOPMED ss3437778032 Nov 08, 2017 (151)
77 ILLUMINA ss3625850628 Oct 12, 2018 (152)
78 ILLUMINA ss3629029965 Oct 12, 2018 (152)
79 ILLUMINA ss3629029966 Oct 12, 2018 (152)
80 ILLUMINA ss3629029967 Oct 12, 2018 (152)
81 ILLUMINA ss3632091430 Oct 12, 2018 (152)
82 ILLUMINA ss3633343940 Oct 12, 2018 (152)
83 ILLUMINA ss3634063263 Oct 12, 2018 (152)
84 ILLUMINA ss3634964199 Oct 12, 2018 (152)
85 ILLUMINA ss3634964200 Oct 12, 2018 (152)
86 ILLUMINA ss3635745979 Oct 12, 2018 (152)
87 ILLUMINA ss3636668623 Oct 12, 2018 (152)
88 ILLUMINA ss3637498520 Oct 12, 2018 (152)
89 ILLUMINA ss3638502822 Oct 12, 2018 (152)
90 ILLUMINA ss3639253772 Oct 12, 2018 (152)
91 ILLUMINA ss3639648336 Oct 12, 2018 (152)
92 ILLUMINA ss3640671492 Oct 12, 2018 (152)
93 ILLUMINA ss3640671493 Oct 12, 2018 (152)
94 ILLUMINA ss3643452894 Oct 12, 2018 (152)
95 ILLUMINA ss3644856275 Oct 12, 2018 (152)
96 URBANLAB ss3647807270 Oct 12, 2018 (152)
97 ILLUMINA ss3652887566 Oct 12, 2018 (152)
98 ILLUMINA ss3654071200 Oct 12, 2018 (152)
99 1000Genomes NC_000004.11 - 103188709 Oct 12, 2018 (152)
100 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 103188709 Oct 12, 2018 (152)
101 Genetic variation in the Estonian population NC_000004.11 - 103188709 Oct 12, 2018 (152)
102 ExAC

Submission ignored due to conflicting rows:
Row 7561499 (NC_000004.11:103188708:C:C 115208/120314, NC_000004.11:103188708:C:T 5106/120314)
Row 7561500 (NC_000004.11:103188708:C:C 120313/120314, NC_000004.11:103188708:C:A 1/120314)

- Oct 12, 2018 (152)
103 ExAC

Submission ignored due to conflicting rows:
Row 7561499 (NC_000004.11:103188708:C:C 115208/120314, NC_000004.11:103188708:C:T 5106/120314)
Row 7561500 (NC_000004.11:103188708:C:C 120313/120314, NC_000004.11:103188708:C:A 1/120314)

- Oct 12, 2018 (152)
104 gnomAD - Genomes NC_000004.11 - 103188709 Oct 12, 2018 (152)
105 gnomAD - Exomes NC_000004.11 - 103188709 Oct 12, 2018 (152)
106 GO Exome Sequencing Project NC_000004.11 - 103188709 Oct 12, 2018 (152)
107 TopMed NC_000004.12 - 102267552 Oct 12, 2018 (152)
108 UK 10K study - Twins NC_000004.11 - 103188709 Oct 12, 2018 (152)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs17225587 Oct 07, 2004 (123)
rs52796265 Sep 21, 2007 (128)
rs60329194 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
2990925, ss1687589003, ss2734657847 NC_000004.11:103188708:C:A NC_000004.12:102267551:C:A (self)
ss3639253772, ss3639648336 NC_000004.9:103545886:C:T NC_000004.12:102267551:C:T
ss293151589, ss479871116, ss491857979, ss825388555, ss1397384075, ss1589978371, ss3643452894 NC_000004.10:103407731:C:T NC_000004.12:102267551:C:T (self)
22506083, 12523073, 8880720, 153715253, 2990925, 494299, 12523073, ss232523663, ss342168595, ss479878884, ss480486501, ss484734029, ss490892191, ss491359038, ss533059421, ss536832220, ss778795663, ss780831233, ss782813712, ss783514193, ss783778905, ss832066949, ss834255763, ss980473766, ss1311060795, ss1580696540, ss1584035609, ss1610782593, ss1653776626, ss1687589002, ss1711067664, ss1752490063, ss1752490064, ss1917783277, ss1923713143, ss1946123472, ss1958708525, ss2022442638, ss2095147184, ss2150571820, ss2433419086, ss2634157218, ss2711012213, ss2734657847, ss2747281175, ss2813087498, ss2985299306, ss2985927293, ss2995244614, ss3625850628, ss3629029965, ss3629029966, ss3629029967, ss3632091430, ss3633343940, ss3634063263, ss3634964199, ss3634964200, ss3635745979, ss3636668623, ss3637498520, ss3638502822, ss3640671492, ss3640671493, ss3644856275, ss3652887566, ss3654071200 NC_000004.11:103188708:C:T NC_000004.12:102267551:C:T (self)
289260973, ss2265597991, ss3024996870, ss3437778032, ss3647807270 NC_000004.12:102267551:C:T NC_000004.12:102267551:C:T (self)
ss22057205 NT_016354.16:27683412:C:T NC_000004.12:102267551:C:T (self)
ss24413604, ss44484915, ss66574845, ss67057690, ss67384929, ss68906736, ss70419281, ss70594271, ss71138431, ss74821369, ss74937991, ss76801384, ss85300544, ss98849473, ss121619951, ss135201252, ss153317532, ss159245129, ss159708155, ss160317464, ss170291605, ss172327043, ss410903650 NT_016354.19:27736429:C:T NC_000004.12:102267551:C:T (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 rs13107325
PMID Title Author Year Journal
19503599 The impact of divergence time on the nature of population structure: an example from Iceland. Price AL et al. 2009 PLoS genetics
20864672 Genetic variants influencing circulating lipid levels and risk of coronary artery disease. Waterworth DM et al. 2010 Arteriosclerosis, thrombosis, and vascular biology
20935630 Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Speliotes EK et al. 2010 Nature genetics
21466928 Genetics and epigenetics of obesity. Herrera BM et al. 2011 Maturitas
21778217 Childhood environmental and genetic predictors of adulthood obesity: the cardiovascular risk in young Finns study. Juonala M et al. 2011 The Journal of clinical endocrinology and metabolism
21860704 Implications of discoveries from genome-wide association studies in current cardiovascular practice. Jeemon P et al. 2011 World journal of cardiology
21909115 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. International Consortium for Blood Pressure Genome-Wide Association Studies. et al. 2011 Nature
21935397 Genome-wide population-based association study of extremely overweight young adults--the GOYA study. Paternoster L et al. 2011 PloS one
22078303 Association study of nonsynonymous single nucleotide polymorphisms in schizophrenia. Carrera N et al. 2012 Biological psychiatry
22355368 Longitudinal replication studies of GWAS risk SNPs influencing body mass index over the course of childhood and adulthood. Mei H et al. 2012 PloS one
23236286 Identification of novel type 2 diabetes candidate genes involved in the crosstalk between the mitochondrial and the insulin signaling systems. Mercader JM et al. 2012 PLoS genetics
23471855 The genetics of childhood obesity and interaction with dietary macronutrients. Garver WS et al. 2013 Genes & nutrition
24847357 Genome wide association study of SNP-, gene-, and pathway-based approaches to identify genes influencing susceptibility to Staphylococcus aureus infections. Ye Z et al. 2014 Frontiers in genetics
24992585 Polygenic risk predicts obesity in both white and black young adults. Domingue BW et al. 2014 PloS one
25184405 Subclinical psychotic experiences in healthy young adults: associations with stress and genetic predisposition. Bruenig D et al. 2014 Genetic testing and molecular biomarkers
25269698 Obesity and risk of esophageal adenocarcinoma and Barrett's esophagus: a Mendelian randomization study. Thrift AP et al. 2014 Journal of the National Cancer Institute
25302496 Using multivariable Mendelian randomization to disentangle the causal effects of lipid fractions. Burgess S et al. 2014 PloS one
26006263 Recent Positive Selection Drives the Expansion of a Schizophrenia Risk Nonsynonymous Variant at SLC39A8 in Europeans. Li M et al. 2016 Schizophrenia bulletin
26025379 Genome-wide association study of toxic metals and trace elements reveals novel associations. Ng E et al. 2015 Human molecular genetics
26374450 Inverse relationship between a genetic risk score of 31 BMI loci and weight change before and after reaching middle age. Rukh G et al. 2016 International journal of obesity (2005)
26582562 Signatures of Evolutionary Adaptation in Quantitative Trait Loci Influencing Trace Element Homeostasis in Liver. Engelken J et al. 2016 Molecular biology and evolution
26614692 Genetic markers as instrumental variables. von Hinke S et al. 2016 Journal of health economics
26908625 Genome-wide association and Mendelian randomization study of NT-proBNP in patients with acute coronary syndrome. Johansson Å et al. 2016 Human molecular genetics
26956984 Height, body mass index, and socioeconomic status: mendelian randomisation study in UK Biobank. Tyrrell J et al. 2016 BMJ (Clinical research ed.)
26959009 The Functions of Metallothionein and ZIP and ZnT Transporters: An Overview and Perspective. Kimura T et al. 2016 International journal of molecular sciences
27182965 Detection and interpretation of shared genetic influences on 42 human traits. Pickrell JK et al. 2016 Nature genetics
27492617 A Pleiotropic Missense Variant in SLC39A8 Is Associated With Crohn's Disease and Human Gut Microbiome Composition. Li D et al. 2016 Gastroenterology
27494321 Genome-Wide Association Analyses in 128,266 Individuals Identifies New Morningness and Sleep Duration Loci. Jones SE et al. 2016 PLoS genetics
27601421 Body mass index and psychiatric disorders: a Mendelian randomization study. Hartwig FP et al. 2016 Scientific reports
27655946 Incorporating Functional Annotations for Fine-Mapping Causal Variants in a Bayesian Framework Using Summary Statistics. Chen W et al. 2016 Genetics
27701450 Multivariate Analysis of Anthropometric Traits Using Summary Statistics of Genome-Wide Association Studies from GIANT Consortium. Park H et al. 2016 PloS one
28557351 The highly pleiotropic gene SLC39A8 as an opportunity to gain insight into the molecular pathogenesis of schizophrenia. Costas J et al. 2018 American journal of medical genetics. Part B, Neuropsychiatric genetics
28917719 Polymorphisms in manganese transporters show developmental stage and sex specific associations with manganese concentrations in primary teeth. Wahlberg K et al. 2018 Neurotoxicology
29608557 A high throughput, functional screen of human Body Mass Index GWAS loci using tissue-specific RNAi Drosophila melanogaster crosses. Baranski TJ et al. 2018 PLoS genetics

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post104+4a6ee9c