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dbSNP Short Genetic Variations

Reference SNP (rs) Report

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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.

rs1056837

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chr2:38071007 (GRCh38.p7) 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>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.36574 (90054/246226, GnomAD)
A=0.49429 (62067/125568, TOPMED)
A=0.37796 (45870/121362, ExAC) (+ 5 more)
A=0.4917 (15197/30906, GnomAD)
G=0.4537 (5901/13006, GO-ESP)
A=0.380 (1902/5008, 1000G)
A=0.443 (1709/3854, ALSPAC)
A=0.456 (1690/3708, TWINSUK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
CYP1B1 : Missense Variant
Publications
21 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.p7 chr 2 NC_000002.12:g.38071007A>G
GRCh38.p7 chr 2 NC_000002.12:g.38071007A>T
GRCh37.p13 chr 2 NC_000002.11:g.38298150A>G
GRCh37.p13 chr 2 NC_000002.11:g.38298150A>T
CYP1B1 RefSeqGene NG_008386.2:g.10095T>C
CYP1B1 RefSeqGene NG_008386.2:g.10095T>A
Gene: CYP1B1, cytochrome P450 family 1 subfamily B member 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CYP1B1 transcript NM_000104.3:c.134...

NM_000104.3:c.1347T>C

D [GAT] > D [GAC] Coding Sequence Variant
cytochrome P450 1B1 NP_000095.2:p.Asp...

NP_000095.2:p.Asp449=

D (Asp) > D (Asp) Synonymous Variant
CYP1B1 transcript NM_000104.3:c.134...

NM_000104.3:c.1347T>A

D [GAT] > E [GAA] Coding Sequence Variant
cytochrome P450 1B1 NP_000095.2:p.Asp...

NP_000095.2:p.Asp449Glu

D (Asp) > E (Glu) 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: G (allele ID: 177657 )
ClinVar Accession Disease Names Clinical Significance
RCV000153125.3 not specified Benign
RCV000351205.1 Primary congenital glaucoma Benign
RCV000387120.1 Irido-corneo-trabecular dysgenesis 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
The Genome Aggregation Database Global Study-wide 246226 A=0.36574 G=0.63426
The Genome Aggregation Database European Sub 133990 A=0.41879 G=0.58121
The Genome Aggregation Database Asian Sub 48026 A=0.1729 G=0.8271
The Genome Aggregation Database American Sub 33582 A=0.2141 G=0.7859
The Genome Aggregation Database African Sub 15298 A=0.7566 G=0.2434
The Genome Aggregation Database Ashkenazi Jewish Sub 9848 A=0.491 G=0.509
The Genome Aggregation Database Other Sub 5482 A=0.372 G=0.628
Trans-Omics for Precision Medicine Global Study-wide 125568 A=0.49429 G=0.50571
The Exome Aggregation Consortium Global Study-wide 121362 A=0.37796 G=0.62204
The Exome Aggregation Consortium Europe Sub 73316 A=0.4258 G=0.5742
The Exome Aggregation Consortium Asian Sub 25164 A=0.1705 G=0.8295
The Exome Aggregation Consortium American Sub 11572 A=0.1942 G=0.8058
The Exome Aggregation Consortium African Sub 10402 A=0.7489 G=0.2511
The Exome Aggregation Consortium Other Sub 908 A=0.36 G=0.64
The Genome Aggregation Database Global Study-wide 30906 A=0.4917 G=0.5083
The Genome Aggregation Database European Sub 18468 A=0.4175 G=0.5825
The Genome Aggregation Database African Sub 8704 A=0.753 G=0.247
The Genome Aggregation Database East Asian Sub 1616 A=0.110 G=0.890
The Genome Aggregation Database Other Sub 980 A=0.40 G=0.60
The Genome Aggregation Database American Sub 836 A=0.24 G=0.76
The Genome Aggregation Database Ashkenazi Jewish Sub 302 A=0.52 G=0.48
GO Exome Sequencing Project Global Study-wide 13006 A=0.5463 G=0.4537
GO Exome Sequencing Project European American Sub 8600 A=0.444 G=0.556
GO Exome Sequencing Project African American Sub 4406 A=0.746 G=0.254
1000Genomes Global Study-wide 5008 A=0.380 G=0.620
1000Genomes African Sub 1322 A=0.799 G=0.201
1000Genomes East Asian Sub 1008 A=0.091 G=0.909
1000Genomes Europe Sub 1006 A=0.398 G=0.602
1000Genomes South Asian Sub 978 A=0.17 G=0.83
1000Genomes American Sub 694 A=0.27 G=0.73
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.443 G=0.557
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.456 G=0.544
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= G T Note
GRCh38.p7 chr 2 NC_000002.12:g.38...

NC_000002.12:g.38071007A=

NC_000002.12:g.38...

NC_000002.12:g.38071007A>G

NC_000002.12:g.38...

NC_000002.12:g.38071007A>T

GRCh37.p13 chr 2 NC_000002.11:g.38...

NC_000002.11:g.38298150A=

NC_000002.11:g.38...

NC_000002.11:g.38298150A>G

NC_000002.11:g.38...

NC_000002.11:g.38298150A>T

CYP1B1 RefSeqGene NG_008386.2:g.100...

NG_008386.2:g.10095T=

NG_008386.2:g.100...

NG_008386.2:g.10095T>C

NG_008386.2:g.100...

NG_008386.2:g.10095T>A

CYP1B1 transcript NM_000104.3:c.1347T= NM_000104.3:c.134...

NM_000104.3:c.1347T>C

NM_000104.3:c.134...

NM_000104.3:c.1347T>A

cytochrome P450 1B1 NP_000095.2:p.Asp...

NP_000095.2:p.Asp449=

NP_000095.2:p.Asp...

NP_000095.2:p.Asp449=

NP_000095.2:p.Asp...

NP_000095.2:p.Asp449Glu

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#.

3 ClinVar, 8 Frequency, 108 SubSNP submissions
No Submitter Submission ID Date (Build)
1 LEE ss1536987 Oct 05, 2000 (86)
2 HGBASE ss2420527 Nov 14, 2000 (89)
3 SC_JCM ss3684341 Sep 28, 2001 (100)
4 YUSUKE ss4917840 Aug 28, 2002 (108)
5 SNP500CANCER ss5586406 Mar 31, 2003 (113)
6 RIKENSNPRC ss6312288 Feb 20, 2003 (111)
7 BCM_SSAHASNP ss9932414 Jul 11, 2003 (116)
8 EGP_SNPS ss12724398 Dec 05, 2003 (119)
9 BCM_SSAHASNP ss13566165 Dec 05, 2003 (119)
10 WUGSC_SSAHASNP ss14049576 Dec 05, 2003 (119)
11 CSHL-HAPMAP ss17654303 Feb 27, 2004 (120)
12 CSHL-HAPMAP ss20093170 Feb 27, 2004 (120)
13 PERLEGEN ss24639449 Sep 20, 2004 (123)
14 SSAHASNP ss35377798 May 24, 2005 (125)
15 ABI ss41616043 Mar 15, 2006 (126)
16 ILLUMINA ss74886428 Dec 06, 2007 (129)
17 CGM_KYOTO ss76860144 Dec 06, 2007 (129)
18 HGSV ss82815636 Dec 15, 2007 (130)
19 PHARMGKB_AB_DME ss84155918 Dec 15, 2007 (130)
20 PHARMGKB_CREATE ss84172691 Dec 15, 2007 (130)
21 PHARMGKB_CREATE ss84172736 Dec 15, 2007 (130)
22 BCMHGSC_JDW ss91126025 Mar 24, 2008 (129)
23 BGI ss106082484 Feb 05, 2009 (130)
24 1000GENOMES ss109422080 Jan 24, 2009 (130)
25 ILLUMINA ss152795587 Dec 01, 2009 (131)
26 GMI ss156933278 Dec 01, 2009 (131)
27 ILLUMINA ss159137221 Dec 01, 2009 (131)
28 SEATTLESEQ ss159701820 Dec 01, 2009 (131)
29 ILLUMINA ss159910892 Dec 01, 2009 (131)
30 ENSEMBL ss161263170 Dec 01, 2009 (131)
31 COMPLETE_GENOMICS ss164192871 Jul 04, 2010 (132)
32 COMPLETE_GENOMICS ss166448283 Jul 04, 2010 (132)
33 ILLUMINA ss170387419 Jul 04, 2010 (132)
34 BUSHMAN ss200300550 Jul 04, 2010 (132)
35 1000GENOMES ss219182668 Jul 14, 2010 (132)
36 1000GENOMES ss231122329 Jul 14, 2010 (132)
37 1000GENOMES ss238687326 Jul 15, 2010 (132)
38 BL ss253045479 May 09, 2011 (134)
39 GMI ss276427092 May 04, 2012 (137)
40 PJP ss292548975 May 09, 2011 (134)
41 NHLBI-ESP ss342055973 May 09, 2011 (134)
42 ILLUMINA ss479319620 May 04, 2012 (137)
43 ILLUMINA ss479322845 May 04, 2012 (137)
44 ILLUMINA ss479709453 Sep 08, 2015 (146)
45 ILLUMINA ss484460123 May 04, 2012 (137)
46 1000GENOMES ss489812448 May 04, 2012 (137)
47 CLINSEQ_SNP ss491782015 May 04, 2012 (137)
48 ILLUMINA ss536624584 Sep 08, 2015 (146)
49 TISHKOFF ss555486690 Apr 25, 2013 (138)
50 SIMPSON-ANIRIDIA ss647514590 Dec 10, 2012 (137)
51 SSMP ss649072396 Apr 25, 2013 (138)
52 ILLUMINA ss778737079 Sep 08, 2015 (146)
53 ILLUMINA ss782676622 Sep 08, 2015 (146)
54 ILLUMINA ss783645242 Sep 08, 2015 (146)
55 ILLUMINA ss831927362 Sep 08, 2015 (146)
56 ILLUMINA ss834196627 Sep 08, 2015 (146)
57 JMKIDD_LAB ss974441883 Aug 21, 2014 (142)
58 EVA-GONL ss976704522 Aug 21, 2014 (142)
59 JMKIDD_LAB ss1067436655 Aug 21, 2014 (142)
60 JMKIDD_LAB ss1069019661 Aug 21, 2014 (142)
61 1000GENOMES ss1296734196 Aug 21, 2014 (142)
62 DDI ss1428543681 Apr 01, 2015 (144)
63 EVA_GENOME_DK ss1578828617 Apr 01, 2015 (144)
64 EVA_FINRISK ss1584018099 Apr 01, 2015 (144)
65 EVA_DECODE ss1586111871 Apr 01, 2015 (144)
66 EVA_UK10K_ALSPAC ss1603247784 Apr 01, 2015 (144)
67 EVA_UK10K_TWINSUK ss1646241817 Apr 01, 2015 (144)
68 EVA_EXAC ss1686271827 Apr 01, 2015 (144)
69 EVA_MGP ss1710960331 Apr 01, 2015 (144)
70 EVA_SVP ss1712446834 Apr 01, 2015 (144)
71 ILLUMINA ss1752355361 Sep 08, 2015 (146)
72 HAMMER_LAB ss1796586178 Sep 08, 2015 (146)
73 WEILL_CORNELL_DGM ss1919938662 Feb 12, 2016 (147)
74 ILLUMINA ss1946037823 Feb 12, 2016 (147)
75 ILLUMINA ss1958408406 Feb 12, 2016 (147)
76 GENOMED ss1968743239 Jul 19, 2016 (147)
77 JJLAB ss2020501742 Sep 14, 2016 (149)
78 USC_VALOUEV ss2148545941 Dec 20, 2016 (150)
79 HUMAN_LONGEVITY ss2229221965 Dec 20, 2016 (150)
80 TOPMED ss2395145884 Dec 20, 2016 (150)
81 SYSTEMSBIOZJU ss2624764069 Nov 08, 2017 (151)
82 ILLUMINA ss2633598850 Nov 08, 2017 (151)
83 ILLUMINA ss2633598851 Nov 08, 2017 (151)
84 ILLUMINA ss2635088484 Nov 08, 2017 (151)
85 GRF ss2703108413 Nov 08, 2017 (151)
86 ILLUMINA ss2710662211 Nov 08, 2017 (151)
87 GNOMAD ss2732609216 Nov 08, 2017 (151)
88 GNOMAD ss2746663420 Nov 08, 2017 (151)
89 GNOMAD ss2772048048 Nov 08, 2017 (151)
90 AFFY ss2985165034 Nov 08, 2017 (151)
91 AFFY ss2985790775 Nov 08, 2017 (151)
92 SWEGEN ss2989310989 Nov 08, 2017 (151)
93 EVA_SAMSUNG_MC ss3023058082 Nov 08, 2017 (151)
94 BIOINF_KMB_FNS_UNIBA ss3024016510 Nov 08, 2017 (151)
95 TOPMED ss3304618115 Nov 08, 2017 (151)
96 CSHL ss3344173819 Nov 08, 2017 (151)
97 ILLUMINA ss3625752527 Jul 19, 2018 (151)
98 ILLUMINA ss3628038140 Jul 19, 2018 (151)
99 ILLUMINA ss3631566845 Jul 19, 2018 (151)
100 ILLUMINA ss3633907602 Jul 19, 2018 (151)
101 ILLUMINA ss3634761162 Jul 19, 2018 (151)
102 ILLUMINA ss3635593972 Jul 19, 2018 (151)
103 ILLUMINA ss3636447036 Jul 19, 2018 (151)
104 ILLUMINA ss3637345809 Jul 19, 2018 (151)
105 ILLUMINA ss3638253756 Jul 19, 2018 (151)
106 ILLUMINA ss3640468464 Jul 19, 2018 (151)
107 ILLUMINA ss3643224395 Jul 19, 2018 (151)
108 ILLUMINA ss3644740533 Jul 19, 2018 (151)
109 1000Genomes NC_000002.11 - 38298150 Jul 19, 2018 (151)
110 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 38298150 Jul 19, 2018 (151)
111 The Exome Aggregation Consortium NC_000002.11 - 38298150 Jul 19, 2018 (151)
112 The Genome Aggregation Database NC_000002.11 - 38298150 Jul 19, 2018 (151)
113 The Genome Aggregation Database NC_000002.11 - 38298150 Jul 19, 2018 (151)
114 GO Exome Sequencing Project NC_000002.11 - 38298150 Jul 19, 2018 (151)
115 Trans-Omics for Precision Medicine NC_000002.12 - 38071007 Jul 19, 2018 (151)
116 UK 10K study - Twins NC_000002.11 - 38298150 Jul 19, 2018 (151)
117 ClinVar RCV000153125.3 Jul 19, 2018 (151)
118 ClinVar RCV000351205.1 Jul 19, 2018 (151)
119 ClinVar RCV000387120.1 Jul 19, 2018 (151)
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)
rs3731849 Oct 09, 2002 (108)
rs17333397 Oct 07, 2004 (123)
rs58481320 May 24, 2008 (130)
rs117635929 Aug 16, 2010 (132)
rs386514420 Aug 08, 2014 (136)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss35377798, ss82815636 NC_000002.9:38209800:A= NC_000002.12:38071006:A= (self)
ss91126025, ss109422080, ss159910892, ss164192871, ss166448283, ss200300550, ss253045479, ss276427092, ss292548975, ss479319620, ss491782015, ss1586111871, ss1712446834, ss2635088484, ss2710662211, ss3643224395 NC_000002.10:38151653:A= NC_000002.12:38071006:A= (self)
7663761, 4256446, 6139191, 101537909, 1623951, 220440, 4256446, ss219182668, ss231122329, ss238687326, ss342055973, ss479322845, ss479709453, ss484460123, ss489812448, ss536624584, ss555486690, ss649072396, ss778737079, ss782676622, ss783645242, ss831927362, ss834196627, ss974441883, ss976704522, ss1067436655, ss1069019661, ss1296734196, ss1428543681, ss1578828617, ss1584018099, ss1603247784, ss1646241817, ss1686271827, ss1710960331, ss1752355361, ss1796586178, ss1919938662, ss1946037823, ss1958408406, ss1968743239, ss2020501742, ss2148545941, ss2395145884, ss2624764069, ss2633598850, ss2633598851, ss2703108413, ss2732609216, ss2746663420, ss2772048048, ss2985165034, ss2985790775, ss2989310989, ss3023058082, ss3344173819, ss3625752527, ss3628038140, ss3631566845, ss3633907602, ss3634761162, ss3635593972, ss3636447036, ss3637345809, ss3638253756, ss3640468464, ss3644740533 NC_000002.11:38298149:A= NC_000002.12:38071006:A= (self)
190337370, ss647514590, ss2229221965, ss3024016510, ss3304618115 NC_000002.12:38071006:A= NC_000002.12:38071006:A= (self)
ss9932414 NT_022184.12:17114082:A= NC_000002.12:38071006:A= (self)
ss13566165, ss14049576, ss17654303, ss20093170 NT_022184.13:17114082:A= NC_000002.12:38071006:A= (self)
ss1536987, ss2420527, ss3684341, ss4917840, ss5586406, ss6312288, ss12724398, ss24639449, ss41616043, ss74886428, ss76860144, ss84155918, ss84172691, ss84172736, ss106082484, ss152795587, ss156933278, ss159137221, ss159701820, ss161263170, ss170387419 NT_022184.15:17120036:A= NC_000002.12:38071006:A= (self)
ss35377798, ss82815636 NC_000002.9:38209800:A>G NC_000002.12:38071006:A>G (self)
ss91126025, ss109422080, ss159910892, ss164192871, ss166448283, ss200300550, ss253045479, ss276427092, ss292548975, ss479319620, ss491782015, ss1586111871, ss1712446834, ss2635088484, ss2710662211, ss3643224395 NC_000002.10:38151653:A>G NC_000002.12:38071006:A>G (self)
7663761, 4256446, 6139191, 101537909, 1623951, 220440, 4256446, ss219182668, ss231122329, ss238687326, ss342055973, ss479322845, ss479709453, ss484460123, ss489812448, ss536624584, ss555486690, ss649072396, ss778737079, ss782676622, ss783645242, ss831927362, ss834196627, ss974441883, ss976704522, ss1067436655, ss1069019661, ss1296734196, ss1428543681, ss1578828617, ss1584018099, ss1603247784, ss1646241817, ss1686271827, ss1710960331, ss1752355361, ss1796586178, ss1919938662, ss1946037823, ss1958408406, ss1968743239, ss2020501742, ss2148545941, ss2395145884, ss2624764069, ss2633598850, ss2633598851, ss2703108413, ss2732609216, ss2746663420, ss2772048048, ss2985165034, ss2985790775, ss2989310989, ss3023058082, ss3344173819, ss3625752527, ss3628038140, ss3631566845, ss3633907602, ss3634761162, ss3635593972, ss3636447036, ss3637345809, ss3638253756, ss3640468464, ss3644740533 NC_000002.11:38298149:A>G NC_000002.12:38071006:A>G (self)
RCV000153125.3, RCV000351205.1, RCV000387120.1, 190337370, ss647514590, ss2229221965, ss3024016510, ss3304618115 NC_000002.12:38071006:A>G NC_000002.12:38071006:A>G (self)
ss9932414 NT_022184.12:17114082:A>G NC_000002.12:38071006:A>G (self)
ss13566165, ss14049576, ss17654303, ss20093170 NT_022184.13:17114082:A>G NC_000002.12:38071006:A>G (self)
ss1536987, ss3684341, ss4917840, ss5586406, ss6312288, ss12724398, ss24639449, ss41616043, ss74886428, ss76860144, ss84155918, ss84172691, ss84172736, ss106082484, ss152795587, ss156933278, ss159137221, ss159701820, ss161263170, ss170387419 NT_022184.15:17120036:A>G NC_000002.12:38071006:A>G (self)
ss2420527 NT_022184.15:17120036:A>T NC_000002.12:38071006: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.

21 citations for rs1056837
PMID Title Author Year Journal
18268125 Assessment of interactions between PAH exposure and genetic polymorphisms on PAH-DNA adducts in African American, Dominican, and Caucasian mothers and newborns. Wang S et al. 2008 Cancer epidemiology, biomarkers & prevention
18470941 Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. Chavarria-Soley G et al. 2008 Human mutation
18763031 CYP1A1 and CYP1B1 genetic polymorphisms and uterine leiomyoma risk in Chinese women. Ye Y et al. 2008 Journal of assisted reproduction and genetics
18805939 Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis. Tempfer CB et al. 2009 Human reproduction update
18936436 Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994. Chang MH et al. 2009 American journal of epidemiology
18989382 Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma. Firasat S et al. 2008 Molecular vision
19582785 Methods for detecting interactions between genetic polymorphisms and prenatal environment exposure with a mother-child design. Wang S et al. 2010 Genetic epidemiology
19597567 Molecular analysis of CYP1B1 in Omani patients with primary congenital glaucoma: a pilot study. El-Gayar S et al. 2009 Molecular vision
19860743 Effect of gene-environment Interactions on mental development in African American, Dominican, and Caucasian mothers and newborns. Wang S et al. 2010 Annals of human genetics
20057908 Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients. Tanwar M et al. 2009 Molecular vision
21081473 Genetic variation in the bioactivation pathway for polycyclic hydrocarbons and heterocyclic amines in relation to risk of colorectal neoplasia. Wang H et al. 2011 Carcinogenesis
22311237 Gene-environment interactions on growth trajectories. Wang S et al. 2012 Genetic epidemiology
22509109 No association of genetic polymorphisms in CYP1B1 with primary open-angle glaucoma: a meta- and gene-based analysis. Dong S et al. 2012 Molecular vision
23213277 Absence of NR2E1 mutations in patients with aniridia. Corso-Díaz X et al. 2012 Molecular vision
24177223 Significant interactions between maternal PAH exposure and haplotypes in candidate genes on B[a]P-DNA adducts in a NYC cohort of non-smoking African-American and Dominican mothers and newborns. Iyer S et al. 2014 Carcinogenesis
25018621 Mutational spectrum of the CYP1B1 gene in Pakistani patients with primary congenital glaucoma: novel variants and genotype-phenotype correlations. Sheikh SA et al. 2014 Molecular vision
25027399 Cytochrome P450 1B1 polymorphisms and risk of renal cell carcinoma in men. Chang I et al. 2014 Tumour biology
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
27508083 A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent. Rauf B et al. 2016 Human genome variation
27894333 Head-and-neck squamous cell carcinoma risk in smokers: no association detected between phenotype and AHR, CYP1A1, CYP1A2, or CYP1B1 genotype. Jorge-Nebert LF et al. 2016 Human genomics
29449662 Assessment of interaction between maternal polycyclic aromatic hydrocarbons exposure and genetic polymorphisms on the risk of congenital heart diseases. Li N et al. 2018 Scientific reports

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: 0.1.4.post833+d3ba21e