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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.

rs6259

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr17:7633209 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.08910 (22407/251470, GnomAD_exome)
A=0.09022 (11329/125568, TOPMED)
A=0.08993 (10918/121400, ExAC) (+ 9 more)
A=0.0598 (4709/78698, PAGE_STUDY)
A=0.0795 (2496/31380, GnomAD)
A=0.0924 (1202/13006, GO-ESP)
A=0.065 (327/5008, 1000G)
A=0.077 (344/4480, Estonian)
A=0.126 (485/3854, ALSPAC)
A=0.122 (453/3708, TWINSUK)
A=0.10 (60/614, Vietnamese)
A=0.12 (72/600, NorthernSweden)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SHBG : Missense Variant
Publications
48 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 17 NC_000017.11:g.7633209G>A
GRCh37.p13 chr 17 NC_000017.10:g.7536527G>A
SHBG RefSeqGene NG_011981.2:g.24146G>A
Gene: SHBG, sex hormone binding globulin (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SHBG transcript variant 4 NM_001146281.2:c.721G>A D [GAC] > N [AAC] Coding Sequence Variant
sex hormone-binding globulin isoform 4 precursor NP_001139753.1:p.Asp241Asn D (Asp) > N (Asn) Missense Variant
SHBG transcript variant 5 NM_001289113.1:c.892G>A D [GAC] > N [AAC] Coding Sequence Variant
sex hormone-binding globulin isoform 5 NP_001276042.1:p.Asp298Asn D (Asp) > N (Asn) Missense Variant
SHBG transcript variant 6 NM_001289114.1:c.892G>A D [GAC] > N [AAC] Coding Sequence Variant
sex hormone-binding globulin isoform 5 NP_001276043.1:p.Asp298Asn D (Asp) > N (Asn) Missense Variant
SHBG transcript variant 7 NM_001289115.1:c.684G>A K [AAG] > K [AAA] Coding Sequence Variant
sex hormone-binding globulin isoform 6 NP_001276044.1:p.Lys228= K (Lys) > K (Lys) Synonymous Variant
SHBG transcript variant 1 NM_001040.5:c.1066G>A D [GAC] > N [AAC] Coding Sequence Variant
sex hormone-binding globulin isoform 1 precursor NP_001031.2:p.Asp356Asn D (Asp) > N (Asn) Missense Variant
SHBG transcript variant 3 NM_001146280.3:c.858G>A K [AAG] > K [AAA] Coding Sequence Variant
sex hormone-binding globulin isoform 3 precursor NP_001139752.1:p.Lys286= K (Lys) > K (Lys) Synonymous Variant
SHBG transcript variant 2 NM_001146279.3:c.1012G>A D [GAC] > N [AAC] Coding Sequence Variant
sex hormone-binding globulin isoform 2 precursor NP_001139751.1:p.Asp338Asn D (Asp) > N (Asn) Missense Variant
SHBG transcript variant 8 NM_001289116.2:c.718G>A D [GAC] > N [AAC] Coding Sequence Variant
sex hormone-binding globulin isoform 7 NP_001276045.1:p.Asp240Asn D (Asp) > N (Asn) Missense 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.

Not Reported in ClinVar
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
gnomAD - Exomes Global Study-wide 251470 G=0.91090 A=0.08910
gnomAD - Exomes European Sub 135392 G=0.89109 A=0.10891
gnomAD - Exomes Asian Sub 49010 G=0.9300 A=0.0700
gnomAD - Exomes American Sub 34592 G=0.9417 A=0.0583
gnomAD - Exomes African Sub 16256 G=0.9737 A=0.0263
gnomAD - Exomes Ashkenazi Jewish Sub 10080 G=0.8800 A=0.1200
gnomAD - Exomes Other Sub 6140 G=0.906 A=0.094
TopMed Global Study-wide 125568 G=0.90978 A=0.09022
ExAC Global Study-wide 121400 G=0.91007 A=0.08993
ExAC Europe Sub 73354 G=0.8886 A=0.1114
ExAC Asian Sub 25156 G=0.9308 A=0.0692
ExAC American Sub 11578 G=0.9446 A=0.0554
ExAC African Sub 10404 G=0.9716 A=0.0284
ExAC Other Sub 908 G=0.92 A=0.08
The PAGE Study Global Study-wide 78698 G=0.9402 A=0.0598
The PAGE Study AfricanAmerican Sub 32512 G=0.9683 A=0.0317
The PAGE Study Mexican Sub 10810 G=0.9312 A=0.0688
The PAGE Study Asian Sub 8318 G=0.883 A=0.117
The PAGE Study PuertoRican Sub 7918 G=0.915 A=0.085
The PAGE Study NativeHawaiian Sub 4534 G=0.938 A=0.062
The PAGE Study Cuban Sub 4230 G=0.903 A=0.097
The PAGE Study Dominican Sub 3828 G=0.939 A=0.061
The PAGE Study CentralAmerican Sub 2450 G=0.953 A=0.047
The PAGE Study SouthAmerican Sub 1982 G=0.953 A=0.047
The PAGE Study NativeAmerican Sub 1260 G=0.913 A=0.087
The PAGE Study SouthAsian Sub 856 G=0.95 A=0.05
gnomAD - Genomes Global Study-wide 31380 G=0.9205 A=0.0795
gnomAD - Genomes European Sub 18882 G=0.9012 A=0.0988
gnomAD - Genomes African Sub 8712 G=0.972 A=0.028
gnomAD - Genomes East Asian Sub 1560 G=0.878 A=0.122
gnomAD - Genomes Other Sub 1088 G=0.903 A=0.097
gnomAD - Genomes American Sub 848 G=0.93 A=0.07
gnomAD - Genomes Ashkenazi Jewish Sub 290 G=0.90 A=0.10
GO Exome Sequencing Project Global Study-wide 13006 G=0.9076 A=0.0924
GO Exome Sequencing Project European American Sub 8600 G=0.879 A=0.121
GO Exome Sequencing Project African American Sub 4406 G=0.964 A=0.036
1000Genomes Global Study-wide 5008 G=0.935 A=0.065
1000Genomes African Sub 1322 G=0.991 A=0.009
1000Genomes East Asian Sub 1008 G=0.884 A=0.116
1000Genomes Europe Sub 1006 G=0.898 A=0.102
1000Genomes South Asian Sub 978 G=0.95 A=0.05
1000Genomes American Sub 694 G=0.94 A=0.06
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.923 A=0.077
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.874 A=0.126
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.878 A=0.122
A Vietnamese Genetic Variation Database Global Study-wide 614 G=0.90 A=0.10
Northern Sweden ACPOP Study-wide 600 G=0.88 A=0.12
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 G= A Note
GRCh38.p12 chr 17 NC_000017.11:g.7633209= NC_000017.11:g.7633209G>A
GRCh37.p13 chr 17 NC_000017.10:g.7536527= NC_000017.10:g.7536527G>A
SHBG RefSeqGene NG_011981.2:g.24146= NG_011981.2:g.24146G>A
SHBG transcript variant 1 NM_001040.5:c.1066= NM_001040.5:c.1066G>A
SHBG transcript variant 1 NM_001040.4:c.1066= NM_001040.4:c.1066G>A
SHBG transcript variant 1 NM_001040.3:c.1066= NM_001040.3:c.1066G>A
SHBG transcript variant 2 NM_001146279.3:c.1012= NM_001146279.3:c.1012G>A
SHBG transcript variant 2 NM_001146279.2:c.1012= NM_001146279.2:c.1012G>A
SHBG transcript variant 2 NM_001146279.1:c.1012= NM_001146279.1:c.1012G>A
SHBG transcript variant 3 NM_001146280.3:c.858= NM_001146280.3:c.858G>A
SHBG transcript variant 3 NM_001146280.2:c.858= NM_001146280.2:c.858G>A
SHBG transcript variant 3 NM_001146280.1:c.858= NM_001146280.1:c.858G>A
SHBG transcript variant 8 NM_001289116.2:c.718= NM_001289116.2:c.718G>A
SHBG transcript variant 8 NM_001289116.1:c.718= NM_001289116.1:c.718G>A
SHBG transcript variant 4 NM_001146281.2:c.721= NM_001146281.2:c.721G>A
SHBG transcript variant 4 NM_001146281.1:c.721= NM_001146281.1:c.721G>A
SHBG transcript variant 5 NM_001289113.1:c.892= NM_001289113.1:c.892G>A
SHBG transcript variant 6 NM_001289114.1:c.892= NM_001289114.1:c.892G>A
SHBG transcript variant 7 NM_001289115.1:c.684= NM_001289115.1:c.684G>A
sex hormone-binding globulin isoform 1 precursor NP_001031.2:p.Asp356= NP_001031.2:p.Asp356Asn
sex hormone-binding globulin isoform 2 precursor NP_001139751.1:p.Asp338= NP_001139751.1:p.Asp338Asn
sex hormone-binding globulin isoform 3 precursor NP_001139752.1:p.Lys286= NP_001139752.1:p.Lys286=
sex hormone-binding globulin isoform 7 NP_001276045.1:p.Asp240= NP_001276045.1:p.Asp240Asn
sex hormone-binding globulin isoform 4 precursor NP_001139753.1:p.Asp241= NP_001139753.1:p.Asp241Asn
sex hormone-binding globulin isoform 5 NP_001276042.1:p.Asp298= NP_001276042.1:p.Asp298Asn
sex hormone-binding globulin isoform 5 NP_001276043.1:p.Asp298= NP_001276043.1:p.Asp298Asn
sex hormone-binding globulin isoform 6 NP_001276044.1:p.Lys228= NP_001276044.1:p.Lys228=
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#.

122 SubSNP, 12 Frequency submissions
No Submitter Submission ID Date (Build)
1 WIAF-CSNP ss7882 Sep 19, 2000 (52)
2 SNP500CANCER ss5586913 Mar 31, 2003 (113)
3 SEQUENOM ss24792761 Sep 20, 2004 (123)
4 APPLERA_GI ss48401995 Mar 15, 2006 (126)
5 ILLUMINA ss66622251 Nov 29, 2006 (127)
6 ILLUMINA ss67448724 Nov 29, 2006 (127)
7 ILLUMINA ss67800103 Nov 29, 2006 (127)
8 PERLEGEN ss69190638 May 16, 2007 (127)
9 ILLUMINA ss70861467 May 23, 2008 (130)
10 ILLUMINA ss71448818 May 16, 2007 (127)
11 AFFY ss74826843 Aug 16, 2007 (128)
12 ILLUMINA ss75476194 Dec 07, 2007 (129)
13 ILLUMINA ss79218518 Dec 14, 2007 (130)
14 KRIBB_YJKIM ss83347126 Dec 14, 2007 (130)
15 BCMHGSC_JDW ss90524212 Mar 24, 2008 (129)
16 ILLUMINA ss120036049 Dec 01, 2009 (131)
17 ILLUMINA ss122526607 Dec 01, 2009 (131)
18 ILLUMINA ss154356473 Dec 01, 2009 (131)
19 GMI ss157811582 Dec 01, 2009 (131)
20 ILLUMINA ss159532736 Dec 01, 2009 (131)
21 ILLUMINA ss160769615 Dec 01, 2009 (131)
22 COMPLETE_GENOMICS ss167753838 Jul 04, 2010 (132)
23 ILLUMINA ss172111251 Jul 04, 2010 (132)
24 ILLUMINA ss173991565 Jul 04, 2010 (132)
25 BUSHMAN ss202183951 Jul 04, 2010 (132)
26 1000GENOMES ss210907264 Jul 14, 2010 (132)
27 1000GENOMES ss237173751 Jul 15, 2010 (132)
28 1000GENOMES ss243485770 Jul 15, 2010 (132)
29 GMI ss282682313 May 04, 2012 (137)
30 GMI ss287142797 Apr 25, 2013 (138)
31 NHLBI-ESP ss342443140 May 09, 2011 (134)
32 ILLUMINA ss481228686 May 04, 2012 (137)
33 ILLUMINA ss481252241 May 04, 2012 (137)
34 ILLUMINA ss482238665 Sep 08, 2015 (146)
35 ILLUMINA ss485409672 May 04, 2012 (137)
36 1000GENOMES ss491115316 May 04, 2012 (137)
37 EXOME_CHIP ss491516514 May 04, 2012 (137)
38 CLINSEQ_SNP ss491729154 May 04, 2012 (137)
39 ILLUMINA ss537344083 Sep 08, 2015 (146)
40 SSMP ss660940063 Apr 25, 2013 (138)
41 ILLUMINA ss779045504 Aug 21, 2014 (142)
42 ILLUMINA ss780724441 Sep 08, 2015 (146)
43 ILLUMINA ss783150296 Sep 08, 2015 (146)
44 ILLUMINA ss783400428 Sep 08, 2015 (146)
45 ILLUMINA ss784106279 Aug 21, 2014 (142)
46 ILLUMINA ss825549036 Jul 19, 2016 (147)
47 ILLUMINA ss832409485 Sep 08, 2015 (146)
48 ILLUMINA ss833043976 Jul 13, 2019 (153)
49 ILLUMINA ss834508407 Aug 21, 2014 (142)
50 JMKIDD_LAB ss974497365 Aug 21, 2014 (142)
51 EVA-GONL ss992898867 Aug 21, 2014 (142)
52 JMKIDD_LAB ss1067567538 Aug 21, 2014 (142)
53 JMKIDD_LAB ss1080914305 Aug 21, 2014 (142)
54 1000GENOMES ss1357812069 Aug 21, 2014 (142)
55 DDI ss1427970148 Apr 01, 2015 (144)
56 EVA_GENOME_DK ss1578078966 Apr 01, 2015 (144)
57 EVA_FINRISK ss1584103851 Apr 01, 2015 (144)
58 EVA_UK10K_ALSPAC ss1635239814 Apr 01, 2015 (144)
59 EVA_UK10K_TWINSUK ss1678233847 Apr 01, 2015 (144)
60 EVA_EXAC ss1692579195 Apr 01, 2015 (144)
61 EVA_DECODE ss1696939652 Apr 01, 2015 (144)
62 EVA_MGP ss1711446969 Apr 01, 2015 (144)
63 EVA_SVP ss1713568211 Apr 01, 2015 (144)
64 ILLUMINA ss1752241449 Sep 08, 2015 (146)
65 ILLUMINA ss1752241450 Sep 08, 2015 (146)
66 ILLUMINA ss1917914077 Feb 12, 2016 (147)
67 WEILL_CORNELL_DGM ss1936345608 Feb 12, 2016 (147)
68 ILLUMINA ss1946427465 Feb 12, 2016 (147)
69 ILLUMINA ss1959721245 Feb 12, 2016 (147)
70 JJLAB ss2028960889 Sep 14, 2016 (149)
71 USC_VALOUEV ss2157408567 Dec 20, 2016 (150)
72 HUMAN_LONGEVITY ss2215317038 Dec 20, 2016 (150)
73 TOPMED ss2380165201 Dec 20, 2016 (150)
74 SYSTEMSBIOZJU ss2628972537 Nov 08, 2017 (151)
75 ILLUMINA ss2633372500 Nov 08, 2017 (151)
76 ILLUMINA ss2633372501 Nov 08, 2017 (151)
77 ILLUMINA ss2635068029 Nov 08, 2017 (151)
78 GRF ss2701951281 Nov 08, 2017 (151)
79 GNOMAD ss2742409460 Nov 08, 2017 (151)
80 GNOMAD ss2749679574 Nov 08, 2017 (151)
81 GNOMAD ss2947432337 Nov 08, 2017 (151)
82 AFFY ss2985084721 Nov 08, 2017 (151)
83 AFFY ss2985722698 Nov 08, 2017 (151)
84 SWEGEN ss3015157167 Nov 08, 2017 (151)
85 ILLUMINA ss3021752209 Nov 08, 2017 (151)
86 BIOINF_KMB_FNS_UNIBA ss3028299588 Nov 08, 2017 (151)
87 TOPMED ss3256679312 Nov 08, 2017 (151)
88 CSHL ss3351641544 Nov 08, 2017 (151)
89 ILLUMINA ss3627620124 Oct 12, 2018 (152)
90 ILLUMINA ss3627620125 Oct 12, 2018 (152)
91 ILLUMINA ss3631355098 Oct 12, 2018 (152)
92 ILLUMINA ss3633134484 Oct 12, 2018 (152)
93 ILLUMINA ss3633841562 Oct 12, 2018 (152)
94 ILLUMINA ss3634663319 Oct 12, 2018 (152)
95 ILLUMINA ss3634663320 Oct 12, 2018 (152)
96 ILLUMINA ss3635529525 Oct 12, 2018 (152)
97 ILLUMINA ss3636353740 Oct 12, 2018 (152)
98 ILLUMINA ss3637281028 Oct 12, 2018 (152)
99 ILLUMINA ss3638148162 Oct 12, 2018 (152)
100 ILLUMINA ss3639084867 Oct 12, 2018 (152)
101 ILLUMINA ss3639549068 Oct 12, 2018 (152)
102 ILLUMINA ss3640370638 Oct 12, 2018 (152)
103 ILLUMINA ss3640370639 Oct 12, 2018 (152)
104 ILLUMINA ss3641076762 Oct 12, 2018 (152)
105 ILLUMINA ss3641372205 Oct 12, 2018 (152)
106 ILLUMINA ss3643127560 Oct 12, 2018 (152)
107 ILLUMINA ss3644680548 Oct 12, 2018 (152)
108 OMUKHERJEE_ADBS ss3646503334 Oct 12, 2018 (152)
109 ILLUMINA ss3652165020 Oct 12, 2018 (152)
110 ILLUMINA ss3653857018 Oct 12, 2018 (152)
111 EGCUT_WGS ss3682122432 Jul 13, 2019 (153)
112 EVA_DECODE ss3700039042 Jul 13, 2019 (153)
113 ILLUMINA ss3725599961 Jul 13, 2019 (153)
114 ACPOP ss3741852340 Jul 13, 2019 (153)
115 ILLUMINA ss3744439140 Jul 13, 2019 (153)
116 ILLUMINA ss3744963663 Jul 13, 2019 (153)
117 ILLUMINA ss3744963664 Jul 13, 2019 (153)
118 EVA ss3754421387 Jul 13, 2019 (153)
119 PAGE_CC ss3771910775 Jul 13, 2019 (153)
120 ILLUMINA ss3772461711 Jul 13, 2019 (153)
121 ILLUMINA ss3772461712 Jul 13, 2019 (153)
122 KHV_HUMAN_GENOMES ss3819691362 Jul 13, 2019 (153)
123 1000Genomes NC_000017.10 - 7536527 Oct 12, 2018 (152)
124 The Avon Longitudinal Study of Parents and Children NC_000017.10 - 7536527 Oct 12, 2018 (152)
125 Genetic variation in the Estonian population NC_000017.10 - 7536527 Oct 12, 2018 (152)
126 ExAC NC_000017.10 - 7536527 Oct 12, 2018 (152)
127 gnomAD - Genomes NC_000017.10 - 7536527 Jul 13, 2019 (153)
128 gnomAD - Exomes NC_000017.10 - 7536527 Jul 13, 2019 (153)
129 GO Exome Sequencing Project NC_000017.10 - 7536527 Oct 12, 2018 (152)
130 Northern Sweden NC_000017.10 - 7536527 Jul 13, 2019 (153)
131 The PAGE Study NC_000017.11 - 7633209 Jul 13, 2019 (153)
132 TopMed NC_000017.11 - 7633209 Oct 12, 2018 (152)
133 UK 10K study - Twins NC_000017.10 - 7536527 Oct 12, 2018 (152)
134 A Vietnamese Genetic Variation Database NC_000017.10 - 7536527 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)
rs4134762 Nov 14, 2002 (109)
rs52829242 Sep 21, 2007 (128)
rs57418591 May 23, 2008 (130)
rs386602101 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss90524212, ss167753838, ss202183951, ss210907264, ss282682313, ss287142797, ss481228686, ss491729154, ss825549036, ss1696939652, ss1713568211, ss2635068029, ss3639084867, ss3639549068, ss3643127560 NC_000017.9:7477251:G:A NC_000017.11:7633208:G:A (self)
71022685, 39390663, 27860680, 3006930, 193808362, 11707519, 1530923, 15137205, 39390663, 8726021, ss237173751, ss243485770, ss342443140, ss481252241, ss482238665, ss485409672, ss491115316, ss491516514, ss537344083, ss660940063, ss779045504, ss780724441, ss783150296, ss783400428, ss784106279, ss832409485, ss833043976, ss834508407, ss974497365, ss992898867, ss1067567538, ss1080914305, ss1357812069, ss1427970148, ss1578078966, ss1584103851, ss1635239814, ss1678233847, ss1692579195, ss1711446969, ss1752241449, ss1752241450, ss1917914077, ss1936345608, ss1946427465, ss1959721245, ss2028960889, ss2157408567, ss2380165201, ss2628972537, ss2633372500, ss2633372501, ss2701951281, ss2742409460, ss2749679574, ss2947432337, ss2985084721, ss2985722698, ss3015157167, ss3021752209, ss3351641544, ss3627620124, ss3627620125, ss3631355098, ss3633134484, ss3633841562, ss3634663319, ss3634663320, ss3635529525, ss3636353740, ss3637281028, ss3638148162, ss3640370638, ss3640370639, ss3641076762, ss3641372205, ss3644680548, ss3646503334, ss3652165020, ss3653857018, ss3682122432, ss3741852340, ss3744439140, ss3744963663, ss3744963664, ss3754421387, ss3772461711, ss3772461712 NC_000017.10:7536526:G:A NC_000017.11:7633208:G:A (self)
1132244, 152399057, ss2215317038, ss3028299588, ss3256679312, ss3700039042, ss3725599961, ss3771910775, ss3819691362 NC_000017.11:7633208:G:A NC_000017.11:7633208:G:A (self)
ss7882, ss5586913, ss24792761, ss48401995, ss66622251, ss67448724, ss67800103, ss69190638, ss70861467, ss71448818, ss74826843, ss75476194, ss79218518, ss83347126, ss120036049, ss122526607, ss154356473, ss157811582, ss159532736, ss160769615, ss172111251, ss173991565 NT_010718.16:7139900:G:A NC_000017.11:7633208:G:A (self)
Help

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

48 citations for rs6259
PMID Title Author Year Journal
17411440 Ovarian cancer risk and common variation in the sex hormone-binding globulin gene: a population-based case-control study. Garcia-Closas M et al. 2007 BMC cancer
18603647 Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response. Simoni M et al. 2008 Human reproduction update
18628428 Polymorphisms in genes involved in sex hormone metabolism, estrogen plus progestin hormone therapy use, and risk of postmenopausal breast cancer. Diergaarde B et al. 2008 Cancer epidemiology, biomarkers & prevention
18980759 Polymorphisms of estrogen-related genes jointly confer susceptibility to human spermatogenic defect. Su MT et al. 2010 Fertility and sterility
19005973 The Asp(327)Asn polymorphism in the sex hormone-binding globulin gene modifies the association of soy food and tea intake with endometrial cancer risk. Xu WH et al. 2008 Nutrition and cancer
19015200 Polymorphisms in estrogen- and androgen-metabolizing genes and the risk of gastric cancer. Freedman ND et al. 2009 Carcinogenesis
19064566 Identification of common variants in the SHBG gene affecting sex hormone-binding globulin levels and breast cancer risk in postmenopausal women. Thompson DJ et al. 2008 Cancer epidemiology, biomarkers & prevention
19168589 Variants in hormone-related genes and the risk of biliary tract cancers and stones: a population-based study in China. Park SK et al. 2009 Carcinogenesis
19214745 Polymorphisms in estrogen biosynthesis and metabolism-related genes, ionizing radiation exposure, and risk of breast cancer among US radiologic technologists. Sigurdson AJ et al. 2009 Breast cancer research and treatment
19649728 Asp327Asn polymorphism of sex hormone-binding globulin gene is associated with systemic lupus erythematosus incidence. Piotrowski P et al. 2010 Molecular biology reports
19657112 Sex hormone-binding globulin and risk of type 2 diabetes in women and men. Ding EL et al. 2009 The New England journal of medicine
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20533011 Serotonin-1A receptor gene polymorphism and the ability of antipsychotic drugs to improve attention in schizophrenia. Sumiyoshi T et al. 2010 Advances in therapy
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21429951 Quantitative trait analysis suggests polymorphisms of estrogen-related genes regulate human sperm concentrations and motility. Lee IW et al. 2011 Human reproduction (Oxford, England)
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21514219 Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. Zhang B et al. 2011 The Lancet. Oncology
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26924986 The Important Roles of Steroid Sulfatase and Sulfotransferases in Gynecological Diseases. Rižner TL et al. 2016 Frontiers in pharmacology
26930261 Further investigations of the relation between polymorphisms in sex steroid related genes and autistic-like traits. Zettergren A et al. 2016 Psychoneuroendocrinology
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29484425 Effect of placental sex hormone-binding globulin single nucleotide polymorphism rs6259 on protein and function in gestational diabetes mellitus. Zhang X et al. 2018 International journal of molecular medicine
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30719605 Association of rs6259 polymorphism with SHBG levels and Poly Cystic Ovary Syndrome in Indian population: a case control study. Bhatnager R et al. 2019 Molecular biology reports
30895971 An independent validation study of three single nucleotide polymorphisms at the sex hormone-binding globulin locus for testosterone levels identified by genome-wide association studies. Sato Y et al. 2017 Human reproduction open
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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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Software version is: 2.0.1.post270+ab078da