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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.

rs6688832

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr1:9263851 (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 / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.28337 (69627/245712, GnomAD)
A=0.32363 (40638/125568, TOPMED)
A=0.3100 (9569/30866, GnomAD) (+ 4 more)
A=0.390 (1951/5008, 1000G)
A=0.238 (1068/4480, Estonian)
A=0.242 (932/3854, ALSPAC)
A=0.231 (858/3708, TWINSUK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
H6PD : Missense Variant
Publications
12 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 1 NC_000001.11:g.9263851G>A
GRCh38.p12 chr 1 NC_000001.11:g.9263851G>C
GRCh37.p13 chr 1 NC_000001.10:g.9323910G>A
GRCh37.p13 chr 1 NC_000001.10:g.9323910G>C
H6PD RefSeqGene NG_012218.1:g.34048G>A
H6PD RefSeqGene NG_012218.1:g.34048G>C
Gene: H6PD, hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
H6PD transcript variant 2 NM_004285.3:c.1358G>A R [CGG] > Q [CAG] Coding Sequence Variant
GDH/6PGL endoplasmic bifunctional protein isoform 2 precursor NP_004276.2:p.Arg453Gln R (Arg) > Q (Gln) Missense Variant
H6PD transcript variant 2 NM_004285.3:c.1358G>C R [CGG] > P [CCG] Coding Sequence Variant
GDH/6PGL endoplasmic bifunctional protein isoform 2 precursor NP_004276.2:p.Arg453Pro R (Arg) > P (Pro) Missense Variant
H6PD transcript variant 1 NM_001282587.1:c.1391G>A R [CGG] > Q [CAG] Coding Sequence Variant
GDH/6PGL endoplasmic bifunctional protein isoform 1 precursor NP_001269516.1:p.Arg464Gln R (Arg) > Q (Gln) Missense Variant
H6PD transcript variant 1 NM_001282587.1:c.1391G>C R [CGG] > P [CCG] Coding Sequence Variant
GDH/6PGL endoplasmic bifunctional protein isoform 1 precursor NP_001269516.1:p.Arg464Pro R (Arg) > P (Pro) Missense Variant
H6PD transcript variant X1 XM_005263540.5:c.1385G>A R [CGG] > Q [CAG] Coding Sequence Variant
GDH/6PGL endoplasmic bifunctional protein isoform X1 XP_005263597.1:p.Arg462Gln R (Arg) > Q (Gln) Missense Variant
H6PD transcript variant X1 XM_005263540.5:c.1385G>C R [CGG] > P [CCG] Coding Sequence Variant
GDH/6PGL endoplasmic bifunctional protein isoform X1 XP_005263597.1:p.Arg462Pro R (Arg) > P (Pro) Missense Variant
H6PD transcript variant X2 XM_017002865.2:c.1358G>A R [CGG] > Q [CAG] Coding Sequence Variant
GDH/6PGL endoplasmic bifunctional protein isoform X2 XP_016858354.1:p.Arg453Gln R (Arg) > Q (Gln) Missense Variant
H6PD transcript variant X2 XM_017002865.2:c.1358G>C R [CGG] > P [CCG] Coding Sequence Variant
GDH/6PGL endoplasmic bifunctional protein isoform X2 XP_016858354.1:p.Arg453Pro R (Arg) > P (Pro) Missense Variant
H6PD transcript variant X3 XM_006711052.4:c.1358G>A R [CGG] > Q [CAG] Coding Sequence Variant
GDH/6PGL endoplasmic bifunctional protein isoform X2 XP_006711115.1:p.Arg453Gln R (Arg) > Q (Gln) Missense Variant
H6PD transcript variant X3 XM_006711052.4:c.1358G>C R [CGG] > P [CCG] Coding Sequence Variant
GDH/6PGL endoplasmic bifunctional protein isoform X2 XP_006711115.1:p.Arg453Pro R (Arg) > P (Pro) Missense Variant
H6PD transcript variant X4 XM_017002866.2:c.290G>A R [CGG] > Q [CAG] Coding Sequence Variant
GDH/6PGL endoplasmic bifunctional protein isoform X3 XP_016858355.1:p.Arg97Gln R (Arg) > Q (Gln) Missense Variant
H6PD transcript variant X4 XM_017002866.2:c.290G>C R [CGG] > P [CCG] Coding Sequence Variant
GDH/6PGL endoplasmic bifunctional protein isoform X3 XP_016858355.1:p.Arg97Pro R (Arg) > P (Pro) 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.

Allele: A (allele ID: 31170 )
ClinVar Accession Disease Names Clinical Significance
RCV000017511.2 Cortisone reductase deficiency 1 Uncertain-Significance
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 245712 G=0.71651 A=0.28337, C=0.00012
gnomAD - Exomes European Sub 133564 G=0.77214 A=0.22783, C=0.00003
gnomAD - Exomes Asian Sub 48016 G=0.6515 A=0.3480, C=0.0005
gnomAD - Exomes American Sub 33568 G=0.6668 A=0.3331, C=0.0000
gnomAD - Exomes African Sub 15254 G=0.5337 A=0.4663, C=0.0000
gnomAD - Exomes Ashkenazi Jewish Sub 9838 G=0.723 A=0.277, C=0.000
gnomAD - Exomes Other Sub 5472 G=0.731 A=0.269, C=0.000
TopMed Global Study-wide 125568 G=0.67637 A=0.32363
gnomAD - Genomes Global Study-wide 30866 G=0.6900 A=0.3100
gnomAD - Genomes European Sub 18452 G=0.7690 A=0.2310
gnomAD - Genomes African Sub 8692 G=0.543 A=0.457
gnomAD - Genomes East Asian Sub 1606 G=0.537 A=0.463
gnomAD - Genomes Other Sub 978 G=0.74 A=0.26
gnomAD - Genomes American Sub 836 G=0.69 A=0.31
gnomAD - Genomes Ashkenazi Jewish Sub 302 G=0.75 A=0.25
1000Genomes Global Study-wide 5008 G=0.610 A=0.390
1000Genomes African Sub 1322 G=0.507 A=0.493
1000Genomes East Asian Sub 1008 G=0.519 A=0.481
1000Genomes Europe Sub 1006 G=0.751 A=0.249
1000Genomes South Asian Sub 978 G=0.69 A=0.31
1000Genomes American Sub 694 G=0.63 A=0.37
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.762 A=0.238
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.758 A=0.242
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.769 A=0.231
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 C Note
GRCh38.p12 chr 1 NC_000001.11:g.92...

NC_000001.11:g.9263851G=

NC_000001.11:g.92...

NC_000001.11:g.9263851G>A

NC_000001.11:g.92...

NC_000001.11:g.9263851G>C

GRCh37.p13 chr 1 NC_000001.10:g.93...

NC_000001.10:g.9323910G=

NC_000001.10:g.93...

NC_000001.10:g.9323910G>A

NC_000001.10:g.93...

NC_000001.10:g.9323910G>C

H6PD RefSeqGene NG_012218.1:g.340...

NG_012218.1:g.34048G=

NG_012218.1:g.340...

NG_012218.1:g.34048G>A

NG_012218.1:g.340...

NG_012218.1:g.34048G>C

H6PD transcript variant 2 NM_004285.3:c.1358G= NM_004285.3:c.135...

NM_004285.3:c.1358G>A

NM_004285.3:c.135...

NM_004285.3:c.1358G>C

H6PD transcript variant 1 NM_001282587.1:c....

NM_001282587.1:c.1391G=

NM_001282587.1:c....

NM_001282587.1:c.1391G>A

NM_001282587.1:c....

NM_001282587.1:c.1391G>C

H6PD transcript variant X1 XM_005263540.5:c....

XM_005263540.5:c.1385G=

XM_005263540.5:c....

XM_005263540.5:c.1385G>A

XM_005263540.5:c....

XM_005263540.5:c.1385G>C

H6PD transcript variant X2 XM_005263540.1:c....

XM_005263540.1:c.1385G=

XM_005263540.1:c....

XM_005263540.1:c.1385G>A

XM_005263540.1:c....

XM_005263540.1:c.1385G>C

H6PD transcript variant X3 XM_006711052.4:c....

XM_006711052.4:c.1358G=

XM_006711052.4:c....

XM_006711052.4:c.1358G>A

XM_006711052.4:c....

XM_006711052.4:c.1358G>C

H6PD transcript variant X2 XM_017002865.2:c....

XM_017002865.2:c.1358G=

XM_017002865.2:c....

XM_017002865.2:c.1358G>A

XM_017002865.2:c....

XM_017002865.2:c.1358G>C

H6PD transcript variant X4 XM_017002866.2:c....

XM_017002866.2:c.290G=

XM_017002866.2:c....

XM_017002866.2:c.290G>A

XM_017002866.2:c....

XM_017002866.2:c.290G>C

GDH/6PGL endoplasmic bifunctional protein isoform 2 precursor NP_004276.2:p.Arg...

NP_004276.2:p.Arg453=

NP_004276.2:p.Arg...

NP_004276.2:p.Arg453Gln

NP_004276.2:p.Arg...

NP_004276.2:p.Arg453Pro

GDH/6PGL endoplasmic bifunctional protein isoform 1 precursor NP_001269516.1:p....

NP_001269516.1:p.Arg464=

NP_001269516.1:p....

NP_001269516.1:p.Arg464Gln

NP_001269516.1:p....

NP_001269516.1:p.Arg464Pro

GDH/6PGL endoplasmic bifunctional protein isoform X1 XP_005263597.1:p....

XP_005263597.1:p.Arg462=

XP_005263597.1:p....

XP_005263597.1:p.Arg462Gln

XP_005263597.1:p....

XP_005263597.1:p.Arg462Pro

GDH/6PGL endoplasmic bifunctional protein isoform X2 XP_006711115.1:p....

XP_006711115.1:p.Arg453=

XP_006711115.1:p....

XP_006711115.1:p.Arg453Gln

XP_006711115.1:p....

XP_006711115.1:p.Arg453Pro

GDH/6PGL endoplasmic bifunctional protein isoform X2 XP_016858354.1:p....

XP_016858354.1:p.Arg453=

XP_016858354.1:p....

XP_016858354.1:p.Arg453Gln

XP_016858354.1:p....

XP_016858354.1:p.Arg453Pro

GDH/6PGL endoplasmic bifunctional protein isoform X3 XP_016858355.1:p....

XP_016858355.1:p.Arg97=

XP_016858355.1:p....

XP_016858355.1:p.Arg97Gln

XP_016858355.1:p....

XP_016858355.1:p.Arg97Pro

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#.

112 SubSNP, 9 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss9874380 Jul 11, 2003 (116)
2 PERLEGEN ss24220458 Sep 20, 2004 (123)
3 APPLERA_GI ss48419002 Mar 13, 2006 (126)
4 ILLUMINA ss65728966 Oct 16, 2006 (127)
5 ILLUMINA ss66591694 Dec 02, 2006 (127)
6 ILLUMINA ss67485052 Dec 02, 2006 (127)
7 ILLUMINA ss67842857 Dec 02, 2006 (127)
8 PERLEGEN ss68758216 May 18, 2007 (127)
9 ILLUMINA ss70879739 May 24, 2008 (130)
10 ILLUMINA ss71470192 May 18, 2007 (127)
11 SI_EXO ss71642885 May 18, 2007 (127)
12 AFFY ss74806208 Aug 16, 2007 (128)
13 ILLUMINA ss74931843 Dec 06, 2007 (129)
14 ILLUMINA ss79229825 Dec 15, 2007 (130)
15 KRIBB_YJKIM ss84524030 Dec 15, 2007 (130)
16 1000GENOMES ss107982783 Jan 22, 2009 (130)
17 1000GENOMES ss110034831 Jan 24, 2009 (130)
18 ILLUMINA-UK ss118488736 Feb 14, 2009 (130)
19 ILLUMINA ss122594302 Dec 01, 2009 (131)
20 ILLUMINA ss154375404 Dec 01, 2009 (131)
21 ILLUMINA ss159551297 Dec 01, 2009 (131)
22 SEATTLESEQ ss159695988 Dec 01, 2009 (131)
23 ILLUMINA ss160798274 Dec 01, 2009 (131)
24 COMPLETE_GENOMICS ss163056987 Jul 04, 2010 (132)
25 COMPLETE_GENOMICS ss163809762 Jul 04, 2010 (132)
26 OMICIA ss169631986 Oct 11, 2018 (152)
27 ILLUMINA ss172171833 Jul 04, 2010 (132)
28 ILLUMINA ss174070022 Jul 04, 2010 (132)
29 BUSHMAN ss197997128 Jul 04, 2010 (132)
30 1000GENOMES ss218229244 Jul 14, 2010 (132)
31 1000GENOMES ss230421609 Jul 14, 2010 (132)
32 1000GENOMES ss238137592 Jul 15, 2010 (132)
33 OMIM-CURATED-RECORDS ss263198057 Oct 11, 2018 (152)
34 GMI ss275708554 May 04, 2012 (137)
35 NHLBI-ESP ss341930740 May 09, 2011 (134)
36 ILLUMINA ss481318128 May 04, 2012 (137)
37 ILLUMINA ss481343282 May 04, 2012 (137)
38 ILLUMINA ss482325029 Sep 08, 2015 (146)
39 ILLUMINA ss485454213 May 04, 2012 (137)
40 1000GENOMES ss489719108 May 04, 2012 (137)
41 EXOME_CHIP ss491285755 May 04, 2012 (137)
42 CLINSEQ_SNP ss491583782 May 04, 2012 (137)
43 ILLUMINA ss537378780 Sep 08, 2015 (146)
44 TISHKOFF ss553780757 Apr 25, 2013 (138)
45 SSMP ss647565683 Apr 25, 2013 (138)
46 ILLUMINA ss778947885 Sep 08, 2015 (146)
47 ILLUMINA ss780714057 Sep 08, 2015 (146)
48 ILLUMINA ss783172573 Sep 08, 2015 (146)
49 ILLUMINA ss783389159 Sep 08, 2015 (146)
50 ILLUMINA ss784128071 Sep 08, 2015 (146)
51 ILLUMINA ss825560343 Apr 01, 2015 (144)
52 ILLUMINA ss832432129 Sep 08, 2015 (146)
53 ILLUMINA ss834409699 Sep 08, 2015 (146)
54 JMKIDD_LAB ss974433048 Aug 21, 2014 (142)
55 EVA-GONL ss974841506 Aug 21, 2014 (142)
56 JMKIDD_LAB ss1067415767 Aug 21, 2014 (142)
57 JMKIDD_LAB ss1067660012 Aug 21, 2014 (142)
58 1000GENOMES ss1289625453 Aug 21, 2014 (142)
59 DDI ss1425708049 Apr 01, 2015 (144)
60 EVA_GENOME_DK ss1573880345 Apr 01, 2015 (144)
61 EVA_FINRISK ss1584004369 Apr 01, 2015 (144)
62 EVA_DECODE ss1584199249 Apr 01, 2015 (144)
63 EVA_UK10K_ALSPAC ss1599518707 Apr 01, 2015 (144)
64 EVA_UK10K_TWINSUK ss1642512740 Apr 01, 2015 (144)
65 EVA_EXAC ss1685285315 Apr 01, 2015 (144)
66 EVA_EXAC ss1685285316 Apr 01, 2015 (144)
67 EVA_MGP ss1710887144 Apr 01, 2015 (144)
68 EVA_SVP ss1712310236 Apr 01, 2015 (144)
69 ILLUMINA ss1751939024 Sep 08, 2015 (146)
70 ILLUMINA ss1751939025 Sep 08, 2015 (146)
71 HAMMER_LAB ss1793881191 Sep 08, 2015 (146)
72 ILLUMINA ss1917722300 Feb 12, 2016 (147)
73 WEILL_CORNELL_DGM ss1918040034 Feb 12, 2016 (147)
74 ILLUMINA ss1945984107 Feb 12, 2016 (147)
75 ILLUMINA ss1958239582 Feb 12, 2016 (147)
76 GENOMED ss1966681807 Jul 19, 2016 (147)
77 JJLAB ss2019534710 Sep 14, 2016 (149)
78 USC_VALOUEV ss2147530012 Dec 20, 2016 (150)
79 HUMAN_LONGEVITY ss2159927621 Dec 20, 2016 (150)
80 TOPMED ss2322085821 Dec 20, 2016 (150)
81 SYSTEMSBIOZJU ss2624283537 Nov 08, 2017 (151)
82 ILLUMINA ss2632475331 Nov 08, 2017 (151)
83 ILLUMINA ss2634995903 Nov 08, 2017 (151)
84 GRF ss2697426541 Nov 08, 2017 (151)
85 GNOMAD ss2731092862 Nov 08, 2017 (151)
86 GNOMAD ss2746206782 Nov 08, 2017 (151)
87 GNOMAD ss2751455504 Nov 08, 2017 (151)
88 AFFY ss2984844511 Nov 08, 2017 (151)
89 SWEGEN ss2986272420 Nov 08, 2017 (151)
90 ILLUMINA ss3021052528 Nov 08, 2017 (151)
91 BIOINF_KMB_FNS_UNIBA ss3023532147 Nov 08, 2017 (151)
92 TOPMED ss3068217227 Nov 08, 2017 (151)
93 TOPMED ss3068217228 Nov 08, 2017 (151)
94 CSHL ss3343311274 Nov 08, 2017 (151)
95 ILLUMINA ss3626022662 Oct 11, 2018 (152)
96 ILLUMINA ss3630514147 Oct 11, 2018 (152)
97 ILLUMINA ss3632880307 Oct 11, 2018 (152)
98 ILLUMINA ss3633574081 Oct 11, 2018 (152)
99 ILLUMINA ss3634305968 Oct 11, 2018 (152)
100 ILLUMINA ss3634305969 Oct 11, 2018 (152)
101 ILLUMINA ss3635268218 Oct 11, 2018 (152)
102 ILLUMINA ss3635982239 Oct 11, 2018 (152)
103 ILLUMINA ss3637018582 Oct 11, 2018 (152)
104 ILLUMINA ss3637736409 Oct 11, 2018 (152)
105 ILLUMINA ss3638889630 Oct 11, 2018 (152)
106 ILLUMINA ss3639441650 Oct 11, 2018 (152)
107 ILLUMINA ss3640013332 Oct 11, 2018 (152)
108 ILLUMINA ss3640013333 Oct 11, 2018 (152)
109 ILLUMINA ss3642750341 Oct 11, 2018 (152)
110 OMUKHERJEE_ADBS ss3646220842 Oct 11, 2018 (152)
111 ILLUMINA ss3651376398 Oct 11, 2018 (152)
112 ILLUMINA ss3653618095 Oct 11, 2018 (152)
113 1000Genomes NC_000001.10 - 9323910 Oct 11, 2018 (152)
114 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 9323910 Oct 11, 2018 (152)
115 Genetic variation in the Estonian population NC_000001.10 - 9323910 Oct 11, 2018 (152)
116 ExAC

Submission ignored due to conflicting rows:
Row 4463397 (NC_000001.10:9323909:G:G 86422/120890, NC_000001.10:9323909:G:A 34468/120890)
Row 4463398 (NC_000001.10:9323909:G:G 120875/120890, NC_000001.10:9323909:G:C 15/120890)

- Oct 11, 2018 (152)
117 ExAC

Submission ignored due to conflicting rows:
Row 4463397 (NC_000001.10:9323909:G:G 86422/120890, NC_000001.10:9323909:G:A 34468/120890)
Row 4463398 (NC_000001.10:9323909:G:G 120875/120890, NC_000001.10:9323909:G:C 15/120890)

- Oct 11, 2018 (152)
118 gnomAD - Genomes NC_000001.10 - 9323910 Oct 11, 2018 (152)
119 gnomAD - Exomes NC_000001.10 - 9323910 Oct 11, 2018 (152)
120 TopMed NC_000001.11 - 9263851 Oct 11, 2018 (152)
121 UK 10K study - Twins NC_000001.10 - 9323910 Oct 11, 2018 (152)
122 ClinVar RCV000017511.2 Oct 11, 2018 (152)
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)
rs17286908 Oct 07, 2004 (123)
rs52797480 Sep 21, 2007 (128)
rs58250722 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss3638889630, ss3639441650 NC_000001.8:9258175:G= NC_000001.11:9263850:G=
ss107982783, ss110034831, ss118488736, ss163056987, ss163809762, ss197997128, ss275708554, ss481318128, ss491583782, ss825560343, ss1584199249, ss1712310236, ss2634995903, ss3642750341 NC_000001.9:9246496:G= NC_000001.11:9263850:G= (self)
299455, 153956, 110278, 854703, 78159, 153956, ss218229244, ss230421609, ss238137592, ss341930740, ss481343282, ss482325029, ss485454213, ss489719108, ss491285755, ss537378780, ss553780757, ss647565683, ss778947885, ss780714057, ss783172573, ss783389159, ss784128071, ss832432129, ss834409699, ss974433048, ss974841506, ss1067415767, ss1067660012, ss1289625453, ss1425708049, ss1573880345, ss1584004369, ss1599518707, ss1642512740, ss1685285315, ss1685285316, ss1710887144, ss1751939024, ss1751939025, ss1793881191, ss1917722300, ss1918040034, ss1945984107, ss1958239582, ss1966681807, ss2019534710, ss2147530012, ss2322085821, ss2624283537, ss2632475331, ss2697426541, ss2731092862, ss2746206782, ss2751455504, ss2984844511, ss2986272420, ss3021052528, ss3343311274, ss3626022662, ss3630514147, ss3632880307, ss3633574081, ss3634305968, ss3634305969, ss3635268218, ss3635982239, ss3637018582, ss3637736409, ss3640013332, ss3640013333, ss3646220842, ss3651376398, ss3653618095 NC_000001.10:9323909:G= NC_000001.11:9263850:G= (self)
1471371, ss169631986, ss263198057, ss2159927621, ss3023532147, ss3068217227, ss3068217228 NC_000001.11:9263850:G= NC_000001.11:9263850:G= (self)
ss24220458, ss48419002, ss65728966, ss66591694, ss67485052, ss67842857, ss68758216, ss70879739, ss71470192, ss71642885, ss74806208, ss74931843, ss79229825, ss84524030, ss122594302, ss154375404, ss159551297, ss159695988, ss160798274, ss172171833, ss174070022 NT_021937.19:5328641:G= NC_000001.11:9263850:G= (self)
ss9874380 NT_028054.12:3450968:G= NC_000001.11:9263850:G= (self)
ss3638889630, ss3639441650 NC_000001.8:9258175:G>A NC_000001.11:9263850:G>A
ss107982783, ss110034831, ss118488736, ss163056987, ss163809762, ss197997128, ss275708554, ss481318128, ss491583782, ss825560343, ss1584199249, ss1712310236, ss2634995903, ss3642750341 NC_000001.9:9246496:G>A NC_000001.11:9263850:G>A (self)
299455, 153956, 110278, 854703, 78159, 153956, ss218229244, ss230421609, ss238137592, ss341930740, ss481343282, ss482325029, ss485454213, ss489719108, ss491285755, ss537378780, ss553780757, ss647565683, ss778947885, ss780714057, ss783172573, ss783389159, ss784128071, ss832432129, ss834409699, ss974433048, ss974841506, ss1067415767, ss1067660012, ss1289625453, ss1425708049, ss1573880345, ss1584004369, ss1599518707, ss1642512740, ss1685285315, ss1710887144, ss1751939024, ss1751939025, ss1793881191, ss1917722300, ss1918040034, ss1945984107, ss1958239582, ss1966681807, ss2019534710, ss2147530012, ss2322085821, ss2624283537, ss2632475331, ss2697426541, ss2731092862, ss2746206782, ss2751455504, ss2984844511, ss2986272420, ss3021052528, ss3343311274, ss3626022662, ss3630514147, ss3632880307, ss3633574081, ss3634305968, ss3634305969, ss3635268218, ss3635982239, ss3637018582, ss3637736409, ss3640013332, ss3640013333, ss3646220842, ss3651376398, ss3653618095 NC_000001.10:9323909:G>A NC_000001.11:9263850:G>A (self)
RCV000017511.2, 1471371, ss169631986, ss263198057, ss2159927621, ss3023532147, ss3068217227 NC_000001.11:9263850:G>A NC_000001.11:9263850:G>A (self)
ss24220458, ss48419002, ss65728966, ss66591694, ss67485052, ss67842857, ss68758216, ss70879739, ss71470192, ss71642885, ss74806208, ss74931843, ss79229825, ss84524030, ss122594302, ss154375404, ss159551297, ss159695988, ss160798274, ss172171833, ss174070022 NT_021937.19:5328641:G>A NC_000001.11:9263850:G>A (self)
ss9874380 NT_028054.12:3450968:G>A NC_000001.11:9263850:G>A (self)
78159, ss1685285316, ss2731092862 NC_000001.10:9323909:G>C NC_000001.11:9263850:G>C (self)
ss3068217228 NC_000001.11:9263850:G>C NC_000001.11:9263850:G>C (self)
Help

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

12 citations for rs6688832
PMID Title Author Year Journal
12858176 Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency. Draper N et al. 2003 Nature genetics
15827106 A study of the hexose-6-phosphate dehydrogenase gene R453Q and 11beta-hydroxysteroid dehydrogenase type 1 gene 83557insA polymorphisms in the polycystic ovary syndrome. San Millán JL et al. 2005 The Journal of clinical endocrinology and metabolism
16091483 Genotypes at 11beta-hydroxysteroid dehydrogenase type 11B1 and hexose-6-phosphate dehydrogenase loci are not risk factors for apparent cortisone reductase deficiency in a large population-based sample. White PC et al. 2005 The Journal of clinical endocrinology and metabolism
16817821 Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome. Draper N et al. 2006 Clinical endocrinology
17062770 Lack of Association of the 11beta-hydroxysteroid dehydrogenase type 1 gene 83,557insA and hexose-6-phosphate dehydrogenase gene R453Q polymorphisms with body composition, adrenal androgen production, blood pressure, glucose metabolism, and dementia. Smit P et al. 2007 The Journal of clinical endocrinology and metabolism
18288507 Structural genomic variation in ischemic stroke. Matarin M et al. 2008 Neurogenetics
18603647 Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response. Simoni M et al. 2008 Human reproduction update
18628520 Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency. Lavery GG et al. 2008 The Journal of clinical endocrinology and metabolism
19935835 Hexose-6-phosphate dehydrogenase: a new risk gene for multiple sclerosis. Alcina A et al. 2010 European journal of human genetics
20200332 Family-based analysis of candidate genes for polycystic ovary syndrome. Ewens KG et al. 2010 The Journal of clinical endocrinology and metabolism
22306327 The R453Q and D151A polymorphisms of hexose-6-phosphate dehydrogenase gene (H6PD) influence the polycystic ovary syndrome (PCOS) and obesity. Martínez-García MA et al. 2012 Gene
26452272 Association Analysis between the Polymorphisms of HSD11B1 and H6PD and Risk of Polycystic Ovary Syndrome in Chinese Population. Ju R et al. 2015 PloS one

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.
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Software version is: 2.0.1.post76+b4aec9c