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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.

rs1695

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr11:67585218 (GRCh38.p12) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.33880 (83108/245304, GnomAD)
G=0.37073 (46552/125568, TOPMED)
G=0.33348 (39957/119818, ExAC) (+ 6 more)
G=0.3537 (10891/30788, GnomAD)
G=0.3608 (4535/12568, GO-ESP)
G=0.353 (1766/5008, 1000G)
G=0.312 (1397/4480, Estonian)
G=0.345 (1328/3854, ALSPAC)
G=0.350 (1296/3708, TWINSUK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
GSTP1 : Missense Variant
Publications
275 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 11 NC_000011.10:g.67585218A>G
GRCh37.p13 chr 11 NC_000011.9:g.67352689A>G
GSTP1 RefSeqGene (LRG_723) NG_012075.1:g.6624A>G
Gene: GSTP1, glutathione S-transferase pi 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
GSTP1 transcript NM_000852.3:c.313A>G I [ATC] > V [GTC] Coding Sequence Variant
glutathione S-transferase P NP_000843.1:p.Ile105Val I (Ile) > V (Val) 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: 37785 )
ClinVar Accession Disease Names Clinical Significance
RCV000211146.1 fluorouracil and oxaliplatin response - Efficacy Drug-Response
RCV000211269.1 cyclophosphamide and epirubicin response - Efficacy, Toxicity/ADR Drug-Response
RCV000211325.1 Platinum compounds response - Toxicity/ADR Drug-Response
RCV000437330.1 Neoplasm of the large intestine Not-Provided
RCV000660778.1 cisplatin response - Toxicity/ADR Drug-Response
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 245304 A=0.66120 G=0.33880
gnomAD - Exomes European Sub 133306 A=0.67766 G=0.32234
gnomAD - Exomes Asian Sub 47966 A=0.7519 G=0.2481
gnomAD - Exomes American Sub 33480 A=0.4799 G=0.5201
gnomAD - Exomes African Sub 15262 A=0.5516 G=0.4484
gnomAD - Exomes Ashkenazi Jewish Sub 9826 A=0.784 G=0.216
gnomAD - Exomes Other Sub 5464 A=0.659 G=0.341
TopMed Global Study-wide 125568 A=0.62927 G=0.37073
ExAC Global Study-wide 119818 A=0.66652 G=0.33348
ExAC Europe Sub 72580 A=0.6847 G=0.3153
ExAC Asian Sub 25054 A=0.7484 G=0.2516
ExAC American Sub 11516 A=0.4649 G=0.5351
ExAC African Sub 9780 A=0.556 G=0.444
ExAC Other Sub 888 A=0.70 G=0.30
gnomAD - Genomes Global Study-wide 30788 A=0.6463 G=0.3537
gnomAD - Genomes European Sub 18392 A=0.6774 G=0.3226
gnomAD - Genomes African Sub 8672 A=0.550 G=0.450
gnomAD - Genomes East Asian Sub 1612 A=0.828 G=0.172
gnomAD - Genomes Other Sub 974 A=0.68 G=0.32
gnomAD - Genomes American Sub 838 A=0.53 G=0.47
gnomAD - Genomes Ashkenazi Jewish Sub 300 A=0.75 G=0.25
GO Exome Sequencing Project Global Study-wide 12568 A=0.6392 G=0.3608
GO Exome Sequencing Project European American Sub 8400 A=0.668 G=0.332
GO Exome Sequencing Project African American Sub 4168 A=0.580 G=0.420
1000Genomes Global Study-wide 5008 A=0.647 G=0.353
1000Genomes African Sub 1322 A=0.520 G=0.480
1000Genomes East Asian Sub 1008 A=0.821 G=0.179
1000Genomes Europe Sub 1006 A=0.669 G=0.331
1000Genomes South Asian Sub 978 A=0.71 G=0.29
1000Genomes American Sub 694 A=0.52 G=0.48
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.688 G=0.312
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.655 G=0.345
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.650 G=0.350
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 Note
GRCh38.p12 chr 11 NC_000011.10:g.67585218A= NC_000011.10:g.67585218A>G
GRCh37.p13 chr 11 NC_000011.9:g.67352689A= NC_000011.9:g.67352689A>G
GSTP1 RefSeqGene (LRG_723) NG_012075.1:g.6624A= NG_012075.1:g.6624A>G
GSTP1 transcript NM_000852.3:c.313A= NM_000852.3:c.313A>G
glutathione S-transferase P NP_000843.1:p.Ile105= NP_000843.1:p.Ile105Val
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#.

131 SubSNP, 9 Frequency, 5 ClinVar submissions
No Submitter Submission ID Date (Build)
1 WIAF ss1720 Sep 19, 2000 (36)
2 DEBNICK ss5330 Sep 19, 2000 (85)
3 CGAP-GAI ss9110 Sep 19, 2000 (52)
4 TSC-CSHL ss1390210 Oct 05, 2000 (126)
5 LEE ss1545478 Oct 13, 2000 (102)
6 WICVAR ss3178003 Aug 15, 2001 (102)
7 SNP500CANCER ss5586573 Jul 02, 2003 (126)
8 RIKENSNPRC ss5600946 Dec 12, 2002 (126)
9 WI_SSAHASNP ss12156126 Jul 11, 2003 (126)
10 EGP_SNPS ss12585355 Aug 26, 2003 (126)
11 CGAP-GAI ss16257011 Feb 28, 2004 (126)
12 SSAHASNP ss20826385 Apr 05, 2004 (126)
13 PERLEGEN ss23600037 Sep 20, 2004 (126)
14 SEQUENOM ss24789656 Sep 20, 2004 (126)
15 MGC_GENOME_DIFF ss28510644 Sep 24, 2004 (126)
16 ABI ss38770187 Mar 11, 2006 (126)
17 APPLERA_GI ss48418906 Mar 11, 2006 (126)
18 ILLUMINA ss66630304 Dec 01, 2006 (127)
19 EGP_SNPS ss66860542 Dec 01, 2006 (127)
20 ILLUMINA ss67921423 Dec 01, 2006 (127)
21 ILLUMINA ss68045155 Dec 01, 2006 (127)
22 PERLEGEN ss69319411 May 17, 2007 (127)
23 PHARMGKB_PPII ss69367941 May 17, 2007 (127)
24 PHARMGKB_PAAR-SJCRH ss69370970 May 17, 2007 (127)
25 ILLUMINA ss71609807 May 17, 2007 (127)
26 ILLUMINA ss75459465 Dec 07, 2007 (129)
27 CGM_KYOTO ss76860363 Dec 07, 2007 (129)
28 ILLUMINA ss79297480 Dec 14, 2007 (130)
29 KRIBB_YJKIM ss83344802 Dec 14, 2007 (130)
30 HGSV ss85769228 Dec 14, 2007 (130)
31 BCMHGSC_JDW ss88624055 Mar 24, 2008 (129)
32 ILLUMINA ss98262931 May 23, 2008 (130)
33 1000GENOMES ss110598472 Jan 25, 2009 (130)
34 ILLUMINA-UK ss119873230 Dec 01, 2009 (131)
35 ILLUMINA ss120242695 Dec 01, 2009 (131)
36 ILLUMINA ss122998545 Dec 01, 2009 (131)
37 ENSEMBL ss132021201 Dec 01, 2009 (131)
38 ENSEMBL ss132617223 Dec 01, 2009 (131)
39 ILLUMINA ss153583184 Dec 01, 2009 (131)
40 ILLUMINA ss159299354 Dec 01, 2009 (131)
41 SEATTLESEQ ss159724148 Dec 01, 2009 (131)
42 ILLUMINA ss160401508 Dec 01, 2009 (131)
43 COMPLETE_GENOMICS ss168505548 Jul 04, 2010 (132)
44 ILLUMINA ss170727139 Jul 04, 2010 (132)
45 ILLUMINA ss172675645 Jul 04, 2010 (132)
46 BUSHMAN ss202822832 Jul 04, 2010 (132)
47 BCM-HGSC-SUB ss207796489 Jul 04, 2010 (132)
48 1000GENOMES ss225290114 Jul 14, 2010 (132)
49 1000GENOMES ss235595432 Jul 15, 2010 (132)
50 1000GENOMES ss242220130 Jul 15, 2010 (132)
51 ILLUMINA ss244258770 Jul 04, 2010 (132)
52 ILLUMINA ss244281418 Jul 04, 2010 (132)
53 GMI ss286399181 Apr 25, 2013 (138)
54 PJP ss291064074 May 09, 2011 (134)
55 ILLUMINA ss480118020 May 04, 2012 (137)
56 ILLUMINA ss480126993 May 04, 2012 (137)
57 ILLUMINA ss480822938 Sep 08, 2015 (146)
58 ILLUMINA ss484856942 May 04, 2012 (137)
59 1000GENOMES ss491023610 May 04, 2012 (137)
60 EXOME_CHIP ss491454909 May 04, 2012 (137)
61 CLINSEQ_SNP ss491649181 May 04, 2012 (137)
62 TISHKOFF ss562620460 Apr 25, 2013 (138)
63 SSMP ss658132515 Apr 25, 2013 (138)
64 NHLBI-ESP ss713030946 Apr 25, 2013 (138)
65 ILLUMINA ss780900799 Sep 08, 2015 (146)
66 ILLUMINA ss782874948 Sep 08, 2015 (146)
67 ILLUMINA ss783587887 Sep 08, 2015 (146)
68 ILLUMINA ss825627998 Apr 01, 2015 (144)
69 ILLUMINA ss832129160 Sep 08, 2015 (146)
70 JMKIDD_LAB ss974480049 Aug 21, 2014 (142)
71 EVA-GONL ss988624327 Aug 21, 2014 (142)
72 JMKIDD_LAB ss1067525582 Aug 21, 2014 (142)
73 JMKIDD_LAB ss1077800953 Aug 21, 2014 (142)
74 1000GENOMES ss1341684566 Aug 21, 2014 (142)
75 DDI ss1426661643 Apr 01, 2015 (144)
76 EVA_GENOME_DK ss1575767462 Apr 01, 2015 (144)
77 EVA_FINRISK ss1584076417 Apr 01, 2015 (144)
78 EVA_DECODE ss1598287180 Apr 01, 2015 (144)
79 EVA_UK10K_ALSPAC ss1626800199 Apr 01, 2015 (144)
80 EVA_UK10K_TWINSUK ss1669794232 Apr 01, 2015 (144)
81 EVA_EXAC ss1690506807 Apr 01, 2015 (144)
82 EVA_MGP ss1711299007 Apr 01, 2015 (144)
83 EVA_SVP ss1713261247 Apr 01, 2015 (144)
84 ILLUMINA ss1752028779 Sep 08, 2015 (146)
85 ILLUMINA ss1752028780 Sep 08, 2015 (146)
86 HAMMER_LAB ss1806856829 Sep 08, 2015 (146)
87 ILLUMINA ss1917862874 Feb 12, 2016 (147)
88 WEILL_CORNELL_DGM ss1931982121 Feb 12, 2016 (147)
89 ILLUMINA ss1946314551 Feb 12, 2016 (147)
90 ILLUMINA ss1959360278 Feb 12, 2016 (147)
91 GENOMED ss1967382447 Jul 19, 2016 (147)
92 JJLAB ss2026736558 Sep 14, 2016 (149)
93 ILLUMINA ss2095023316 Dec 20, 2016 (150)
94 USC_VALOUEV ss2155043368 Dec 20, 2016 (150)
95 HUMAN_LONGEVITY ss2183184722 Dec 20, 2016 (150)
96 TOPMED ss2346621284 Dec 20, 2016 (150)
97 SYSTEMSBIOZJU ss2627841850 Nov 08, 2017 (151)
98 ILLUMINA ss2632845314 Nov 08, 2017 (151)
99 ILLUMINA ss2635026406 Nov 08, 2017 (151)
100 GRF ss2699334123 Nov 08, 2017 (151)
101 ILLUMINA ss2710737696 Nov 08, 2017 (151)
102 GNOMAD ss2739186128 Nov 08, 2017 (151)
103 GNOMAD ss2748677342 Nov 08, 2017 (151)
104 GNOMAD ss2900847490 Nov 08, 2017 (151)
105 AFFY ss2984947631 Nov 08, 2017 (151)
106 AFFY ss2985589380 Nov 08, 2017 (151)
107 SWEGEN ss3008262597 Nov 08, 2017 (151)
108 ILLUMINA ss3021347763 Nov 08, 2017 (151)
109 BIOINF_KMB_FNS_UNIBA ss3027166234 Nov 08, 2017 (151)
110 TOPMED ss3148100574 Nov 08, 2017 (151)
111 CSHL ss3349644206 Nov 08, 2017 (151)
112 ILLUMINA ss3626680181 Oct 12, 2018 (152)
113 ILLUMINA ss3632988737 Oct 12, 2018 (152)
114 ILLUMINA ss3633688162 Oct 12, 2018 (152)
115 ILLUMINA ss3634460739 Oct 12, 2018 (152)
116 ILLUMINA ss3634460740 Oct 12, 2018 (152)
117 ILLUMINA ss3635379717 Oct 12, 2018 (152)
118 ILLUMINA ss3636144016 Oct 12, 2018 (152)
119 ILLUMINA ss3637130571 Oct 12, 2018 (152)
120 ILLUMINA ss3637912908 Oct 12, 2018 (152)
121 ILLUMINA ss3638970330 Oct 12, 2018 (152)
122 ILLUMINA ss3639486033 Oct 12, 2018 (152)
123 ILLUMINA ss3640168078 Oct 12, 2018 (152)
124 ILLUMINA ss3640168079 Oct 12, 2018 (152)
125 ILLUMINA ss3642910820 Oct 12, 2018 (152)
126 ILLUMINA ss3644567356 Oct 12, 2018 (152)
127 OMUKHERJEE_ADBS ss3646428794 Oct 12, 2018 (152)
128 URBANLAB ss3649632106 Oct 12, 2018 (152)
129 ILLUMINA ss3651712713 Oct 12, 2018 (152)
130 ILLUMINA ss3651712714 Oct 12, 2018 (152)
131 ILLUMINA ss3653720079 Oct 12, 2018 (152)
132 1000Genomes NC_000011.9 - 67352689 Oct 12, 2018 (152)
133 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 67352689 Oct 12, 2018 (152)
134 Genetic variation in the Estonian population NC_000011.9 - 67352689 Oct 12, 2018 (152)
135 ExAC NC_000011.9 - 67352689 Oct 12, 2018 (152)
136 gnomAD - Genomes NC_000011.9 - 67352689 Oct 12, 2018 (152)
137 gnomAD - Exomes NC_000011.9 - 67352689 Oct 12, 2018 (152)
138 GO Exome Sequencing Project NC_000011.9 - 67352689 Oct 12, 2018 (152)
139 TopMed NC_000011.10 - 67585218 Oct 12, 2018 (152)
140 UK 10K study - Twins NC_000011.9 - 67352689 Oct 12, 2018 (152)
141 ClinVar RCV000211146.1 Oct 12, 2018 (152)
142 ClinVar RCV000211269.1 Oct 12, 2018 (152)
143 ClinVar RCV000211325.1 Oct 12, 2018 (152)
144 ClinVar RCV000437330.1 Oct 12, 2018 (152)
145 ClinVar RCV000660778.1 Oct 12, 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)
rs4609 Sep 19, 2000 (85)
rs947894 Mar 11, 2006 (126)
rs1138257 Jan 04, 2002 (102)
rs2230827 Jan 04, 2002 (102)
rs11553891 Mar 11, 2006 (126)
rs17353321 Mar 11, 2006 (126)
rs17856342 Mar 11, 2006 (126)
rs56971933 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss85769228, ss88624055, ss110598472, ss119873230, ss168505548, ss202822832, ss207796489, ss244258770, ss286399181, ss291064074, ss480118020, ss491649181, ss825627998, ss1598287180, ss1713261247, ss2635026406, ss3638970330, ss3639486033, ss3642910820 NC_000011.8:67109264:A= NC_000011.10:67585217:A= (self)
54221242, 30105522, 21337089, 772668, 34549012, 6645358, 1102885, 30105522, ss225290114, ss235595432, ss242220130, ss480126993, ss480822938, ss484856942, ss491023610, ss491454909, ss562620460, ss658132515, ss713030946, ss780900799, ss782874948, ss783587887, ss832129160, ss974480049, ss988624327, ss1067525582, ss1077800953, ss1341684566, ss1426661643, ss1575767462, ss1584076417, ss1626800199, ss1669794232, ss1690506807, ss1711299007, ss1752028779, ss1752028780, ss1806856829, ss1917862874, ss1931982121, ss1946314551, ss1959360278, ss1967382447, ss2026736558, ss2095023316, ss2155043368, ss2346621284, ss2627841850, ss2632845314, ss2699334123, ss2710737696, ss2739186128, ss2748677342, ss2900847490, ss2984947631, ss2985589380, ss3008262597, ss3021347763, ss3349644206, ss3626680181, ss3632988737, ss3633688162, ss3634460739, ss3634460740, ss3635379717, ss3636144016, ss3637130571, ss3637912908, ss3640168078, ss3640168079, ss3644567356, ss3646428794, ss3651712713, ss3651712714, ss3653720079 NC_000011.9:67352688:A= NC_000011.10:67585217:A= (self)
65544403, ss2183184722, ss3027166234, ss3148100574, ss3649632106 NC_000011.10:67585217:A= NC_000011.10:67585217:A= (self)
ss12156126 NT_033903.5:12453077:A= NC_000011.10:67585217:A= (self)
ss20826385 NT_033903.6:12525730:A= NC_000011.10:67585217:A= (self)
ss1720, ss5330, ss9110, ss1390210, ss1545478, ss3178003, ss5586573, ss5600946, ss12585355, ss16257011, ss23600037, ss24789656, ss28510644, ss38770187, ss48418906, ss66630304, ss66860542, ss67921423, ss68045155, ss69319411, ss69367941, ss69370970, ss71609807, ss75459465, ss76860363, ss79297480, ss83344802, ss98262931, ss120242695, ss122998545, ss132021201, ss132617223, ss153583184, ss159299354, ss159724148, ss160401508, ss170727139, ss172675645, ss244281418 NT_167190.1:12658483:A= NC_000011.10:67585217:A= (self)
ss85769228, ss88624055, ss110598472, ss119873230, ss168505548, ss202822832, ss207796489, ss244258770, ss286399181, ss291064074, ss480118020, ss491649181, ss825627998, ss1598287180, ss1713261247, ss2635026406, ss3638970330, ss3639486033, ss3642910820 NC_000011.8:67109264:A>G NC_000011.10:67585217:A>G (self)
54221242, 30105522, 21337089, 772668, 34549012, 6645358, 1102885, 30105522, ss225290114, ss235595432, ss242220130, ss480126993, ss480822938, ss484856942, ss491023610, ss491454909, ss562620460, ss658132515, ss713030946, ss780900799, ss782874948, ss783587887, ss832129160, ss974480049, ss988624327, ss1067525582, ss1077800953, ss1341684566, ss1426661643, ss1575767462, ss1584076417, ss1626800199, ss1669794232, ss1690506807, ss1711299007, ss1752028779, ss1752028780, ss1806856829, ss1917862874, ss1931982121, ss1946314551, ss1959360278, ss1967382447, ss2026736558, ss2095023316, ss2155043368, ss2346621284, ss2627841850, ss2632845314, ss2699334123, ss2710737696, ss2739186128, ss2748677342, ss2900847490, ss2984947631, ss2985589380, ss3008262597, ss3021347763, ss3349644206, ss3626680181, ss3632988737, ss3633688162, ss3634460739, ss3634460740, ss3635379717, ss3636144016, ss3637130571, ss3637912908, ss3640168078, ss3640168079, ss3644567356, ss3646428794, ss3651712713, ss3651712714, ss3653720079 NC_000011.9:67352688:A>G NC_000011.10:67585217:A>G (self)
RCV000211146.1, RCV000211269.1, RCV000211325.1, RCV000437330.1, RCV000660778.1, 65544403, ss2183184722, ss3027166234, ss3148100574, ss3649632106 NC_000011.10:67585217:A>G NC_000011.10:67585217:A>G (self)
ss12156126 NT_033903.5:12453077:A>G NC_000011.10:67585217:A>G (self)
ss20826385 NT_033903.6:12525730:A>G NC_000011.10:67585217:A>G (self)
ss1720, ss5330, ss9110, ss1390210, ss1545478, ss3178003, ss5586573, ss5600946, ss12585355, ss16257011, ss23600037, ss24789656, ss28510644, ss38770187, ss48418906, ss66630304, ss66860542, ss67921423, ss68045155, ss69319411, ss69367941, ss69370970, ss71609807, ss75459465, ss76860363, ss79297480, ss83344802, ss98262931, ss120242695, ss122998545, ss132021201, ss132617223, ss153583184, ss159299354, ss159724148, ss160401508, ss170727139, ss172675645, ss244281418 NT_167190.1:12658483:A>G NC_000011.10:67585217:A>G (self)
Removed from this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Destination RSIDs
ss161151847 NT_167190.1:12658483:AT= NC_000011.8:67109264:A= rs1555022238 , rs1555022239
ss161151847 NT_167190.1:12658483:delT NC_000011.8:67109264:A>G rs1555022239
ss161151847 NT_167190.1:12658483:delATinsG NC_000011.8:67109264:A= rs1555022238
Help

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

275 citations for rs1695
PMID Title Author Year Journal
15213713 A multivariate analysis of genomic polymorphisms: prediction of clinical outcome to 5-FU/oxaliplatin combination chemotherapy in refractory colorectal cancer. Stoehlmacher J et al. 2004 British journal of cancer
15726497 Gene-environment interaction effects on the development of immune responses in the 1st year of life. Hoffjan S et al. 2005 American journal of human genetics
15817713 Attempted replication of reported chronic obstructive pulmonary disease candidate gene associations. Hersh CP et al. 2005 American journal of respiratory cell and molecular biology
16112301 NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the Spanish Bladder Cancer Study and meta-analyses. García-Closas M et al. 2005 Lancet (London, England)
16582078 Influence of glutathione-S-transferase (GSTM1, GSTP1, GSTT1) and cytochrome p450 (CYP1A1, CYP2D6) polymorphisms on numbers of basal cell carcinomas (BCCs) in families with the naevoid basal cell carcinoma syndrome. R Yang X et al. 2006 Journal of medical genetics
17054776 The genetics of chronic obstructive pulmonary disease. Wood AM et al. 2006 Respiratory research
17160896 Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants. Shi M et al. 2007 American journal of human genetics
17194543 Glutathione S-transferase mu, omega, pi, and theta class variants and smoking in Parkinson's disease. Wahner AD et al. 2007 Neuroscience letters
17363767 Genetic determinants of emphysema distribution in the national emphysema treatment trial. DeMeo DL et al. 2007 American journal of respiratory and critical care medicine
17366837 Genetic studies of a cluster of acute lymphoblastic leukemia cases in Churchill County, Nevada. Steinberg KK et al. 2007 Environmental health perspectives
17409936 Glutathione-S-transferase P1 isoenzyme polymorphisms, platinum-based chemotherapy, and non-small cell lung cancer. Booton R et al. 2006 Journal of thoracic oncology
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26314858 Influences of ERCC1, ERCC2, XRCC1, GSTP1, GSTT1, and MTHFR polymorphisms on clinical outcomes in gastric cancer patients treated with EOF chemotherapy. Liu R et al. 2016 Tumour biology
26333704 Prenatal Particulate Matter/Tobacco Smoke Increases Infants' Respiratory Infections: COCOA Study. Yang SI et al. 2015 Allergy, asthma & immunology research
26345960 Predictive potential role of glutathione S-transferase polymorphisms in the prognosis of breast cancer. Wang X et al. 2015 Genetics and molecular research
26345972 Association of GSTP1 and XRCC1 gene polymorphisms with clinical outcomes of patients with advanced non-small cell lung cancer. Liu JY et al. 2015 Genetics and molecular research
26354850 GSTP1 and GSTO1 single nucleotide polymorphisms and the response of bladder cancer patients to intravesical chemotherapy. Deng X et al. 2015 Scientific reports
26407578 Relevance of GSTM1, GSTT1 and GSTP1 Gene Polymorphism to Breast Cancer Susceptibility in Mizoram Population, Northeast India. Kimi L et al. 2016 Biochemical genetics
26426434 Necrotizing Enterocolitis Is Not Associated With Sequence Variants in Antioxidant Response Genes in Premature Infants. Sampath V et al. 2016 Journal of pediatric gastroenterology and nutrition
26445852 Genetic Biomarkers of Barrett's Esophagus Susceptibility and Progression to Dysplasia and Cancer: A Systematic Review and Meta-Analysis. Findlay JM et al. 2016 Digestive diseases and sciences
26540500 The Interaction Between Prenatal Exposure to Home Renovation and Reactive Oxygen Species Genes in Cord Blood IgE Response is Modified by Maternal Atopy. Yu J et al. 2016 Allergy, asthma & immunology research
26571237 Glutathione S-Transferase Gene Polymorphisms and Treatment Outcome in Cervical Cancer Patients under Concomitant Chemoradiation. Abbas M et al. 2015 PloS one
26572891 The synergistic effect between the Mediterranean diet and GSTP1 or NAT2 SNPs decreases breast cancer risk in Greek-Cypriot women. Kakkoura MG et al. 2017 European journal of nutrition
26773420 Cyclophosphamide pharmacokinetics and pharmacogenetics in children with B-cell non-Hodgkin's lymphoma. Veal GJ et al. 2016 European journal of cancer (Oxford, England
26785747 Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan. Iskakova AN et al. 2016 BMC genetics
26801900 Pharmacogenetics driving personalized medicine: analysis of genetic polymorphisms related to breast cancer medications in Italian isolated populations. Cocca M et al. 2016 Journal of translational medicine
26803317 Passive rGE or Developmental Gene-Environment Cascade? An Investigation of the Role of Xenobiotic Metabolism Genes in the Association Between Smoke Exposure During Pregnancy and Child Birth Weight. Marceau K et al. 2016 Behavior genetics
26823666 Association between IFN-γ +874A/T and IFN-γR1 (-611A/G, +189T/G, and +95C/T) Gene Polymorphisms and Chronic Periodontitis in a Sample of Iranian Population. Heidari Z et al. 2015 International journal of dentistry
26858644 Cross-Comparison of Exome Analysis, Next-Generation Sequencing of Amplicons, and the iPLEX(®) ADME PGx Panel for Pharmacogenomic Profiling. Chua EW et al. 2016 Frontiers in pharmacology
26862484 Polymorphisms of glutathione S-transferase and methylenetetrahydrofolate reductase genes in Moldavian patients with ulcerative colitis: Genotype-phenotype correlation. Varzari A et al. 2016 Meta gene
26868429 Heme Oxygenase-1 and 2 Common Genetic Variants and Risk for Multiple Sclerosis. Agúndez JA et al. 2016 Scientific reports
26903639 Delay discounting, genetic sensitivity, and leukocyte telomere length. Yim OS et al. 2016 Proceedings of the National Academy of Sciences of the United States of America
27006283 Xenobiotic Pathway Gene Polymorphisms Associated with Gastric Cancer in High Risk Mizo-Mongoloid Population, Northeast India. Ghatak S et al. 2016 Helicobacter
27015811 Associations of air pollution exposure with blood pressure and heart rate variability are modified by oxidative stress genes: A repeated-measures panel among elderly urban residents. Kim KN et al. 2016 Environmental health
27043589 The Association between Gene-Environment Interactions and Diseases Involving the Human GST Superfamily with SNP Variants. Hollman AL et al. 2016 International journal of environmental research and public health
27065862 Drug-Drug Interactions Based on Pharmacogenetic Profile between Highly Active Antiretroviral Therapy and Antiblastic Chemotherapy in Cancer Patients with HIV Infection. Berretta M et al. 2016 Frontiers in pharmacology
27069453 Antioxidant defence-related genetic variants are not associated with higher risk of secondary thyroid cancer after treatment of malignancy in childhood or adolescence. Vodusek AL et al. 2016 Radiology and oncology
27110117 Clinically relevant genetic variants of drug-metabolizing enzyme and transporter genes detected in Thai children and adolescents with autism spectrum disorder. Medhasi S et al. 2016 Neuropsychiatric disease and treatment
27233804 Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China. Jin T et al. 2016 BMC genetics
27271305 Single-Nucleotide Polymorphisms and Markers of Oxidative Stress in Healthy Women. Minlikeeva AN et al. 2016 PloS one
27299594 GSTM1 and GSTP1 Genetic Polymorphisms and Their Associations With Acute Lymphoblastic Leukemia Susceptibility in a Jordanian Population. Al-Eitan LN et al. 2016 Journal of pediatric hematology/oncology
27427275 Association of germline genetic variants in RFC, IL15 and VDR genes with minimal residual disease in pediatric B-cell precursor ALL. Dawidowska M et al. 2016 Scientific reports
27437086 Allele Frequencies of the Single Nucleotide Polymorphisms Related to the Body Burden of Heavy Metals in the Korean Population and Their Ethnic Differences. Eom SY et al. 2016 Toxicological research
27454607 GSTM1 and GSTP1, but not GSTT1 genetic polymorphisms are associated with chronic myeloid leukemia risk and treatment response. Weich N et al. 2016 Cancer epidemiology
27536357 Genetic susceptibility to Barrett's oesophagus: Lessons from early studies. Findlay JM et al. 2016 United European gastroenterology journal
27584680 Lead-Related Genetic Loci, Cumulative Lead Exposure and Incident Coronary Heart Disease: The Normative Aging Study. Ding N et al. 2016 PloS one
27608007 Pharmacogenetics Biomarkers and Their Specific Role in Neoadjuvant Chemoradiotherapy Treatments: An Exploratory Study on Rectal Cancer Patients. Dreussi E et al. 2016 International journal of molecular sciences
27618021 Pharmacogenomics in Pediatric Oncology: Review of Gene-Drug Associations for Clinical Use. Mlakar V et al. 2016 International journal of molecular sciences
27618304 The Value of Online Algorithms to Predict T-Cell Ligands Created by Genetic Variants. van der Lee DI et al. 2016 PloS one
27655273 Fire Usage and Ancient Hominin Detoxification Genes: Protective Ancestral Variants Dominate While Additional Derived Risk Variants Appear in Modern Humans. Aarts JM et al. 2016 PloS one
27679545 Functional polymorphisms in antioxidant genes in Hurthle cell thyroid neoplasm - an association of GPX1 polymorphism and recurrent Hurthle cell thyroid carcinoma. Krhin B et al. 2016 Radiology and oncology
27729156 Analysis of genetic and non genetic risk factors for cisplatin ototoxicity in pediatric patients. Olgun Y et al. 2016 International journal of pediatric otorhinolaryngology
27924270 Structural characterization of single nucleotide variants at ligand binding sites and enzyme active sites of human proteins. Yamada KD et al. 2016 Biophysics and physicobiology
28002584 Association between CYP19A1, GSTM1, GSTT1, and GSTP1 genetic polymorphisms and the development of endometriosis in a Chinese population. Tuo Y et al. 2016 Genetics and molecular research
28046029 Genetic Variants in MTHFR Gene Predict ≥ 2 Radiation Pneumonitis in Esophageal Squamous Cell Carcinoma Patients Treated with Thoracic Radiotherapy. Zhang Y et al. 2017 PloS one
28152281 Glutathione-S-transferase P1 may predispose children to a decline in pulmonary function after stem cell transplant. Stark J et al. 2017 Pediatric pulmonology
28153749 Energy landscape of a GSTP1 polymorph linked with cytological function decay in response to chemical stressors. Basharat Z et al. 2017 Gene
28208751 Oxidative Stress-Related Genetic Variants May Modify Associations of Phthalate Exposures with Asthma. Wang IJ et al. 2017 International journal of environmental research and public health
28232737 Candidate Gene Association Studies of Anthracycline-induced Cardiotoxicity: A Systematic Review and Meta-analysis. Leong SL et al. 2017 Scientific reports
28259080 Passive smoking and influenza-like illness in housewives: A perspective of gene susceptibility. Wang B et al. 2017 Chemosphere
28442702 Effect of GSTP1 and ABCC2 Polymorphisms on Treatment Response in Patients with Advanced Non-Small Cell Lung Cancer Undergoing Platinum-Based Chemotherapy: A Study in a Chinese Uygur Population. Han ZG et al. 2017 Medical science monitor
28640195 Pharmacogenomic Variants May Influence the Urinary Excretion of Novel Kidney Injury Biomarkers in Patients Receiving Cisplatin. Chang C et al. 2017 International journal of molecular sciences
28652652 Gallbladder cancer epidemiology, pathogenesis and molecular genetics: Recent update. Sharma A et al. 2017 World journal of gastroenterology
28717179 Genetic Polymorphisms and Platinum-based Chemotherapy Treatment Outcomes in Patients with Non-Small Cell Lung Cancer: A Genetic Epidemiology Study Based Meta-analysis. Tan LM et al. 2017 Scientific reports
28735743 Exposure to meat-derived carcinogens and bulky DNA adduct levels in normal-appearing colon mucosa. Ho V et al. 2017 Mutation research
28827732 Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies. Wang J et al. 2017 Scientific reports
28829907 Synergic effect of oral contraceptives, GSTP1 polymorphisms, and high-risk HPV infection in development of cervical lesions. Chagas BS et al. 2017 Genetics and molecular research
28844971 Genetically driven antioxidant capacity in a Caucasian Southeastern European population. Katsarou MS et al. 2018 Mechanisms of ageing and development
28872562 GPX1 Pro198Leu polymorphism and GSTP1 Ile105Val polymorphisms are not associated with the risk of schizophrenia in the Chinese Han population. Gao H et al. 2017 Neuroreport
28965273 Association of Glutathione S-Transferase P-1 (GSTP-1) rs1695 polymorphism with overall survival in glioblastoma patients treated with combined radio-chemotherapy. Pasqualetti F et al. 2018 Investigational new drugs
29113331 Cross-sectional associations between genetic polymorphisms in metabolic enzymes and longer leukocyte telomere length induced by omethoate. Duan X et al. 2017 Oncotarget
29285015 Evaluation of glutathione S-transferase P1 (GSTP1) Ile105Val polymorphism and susceptibility to type 2 diabetes mellitus, a meta-analysis. Saadat M et al. 2017 EXCLI journal
29434449 Impact of SNP-SNP interactions of DNA repair gene <i>ERCC5</i> and metabolic gene <i>GSTP1</i> on gastric cancer/atrophic gastritis risk in a Chinese population. Sang L et al. 2018 World journal of gastroenterology
29505746 Association of N-acetyltransferase-2 and glutathione S-transferase polymorphisms with idiopathic male infertility in Vietnam male subjects. Trang NT et al. 2018 Chemico-biological interactions
29573653 Maternal polymorphisms in glutathione-related genes are associated with maternal mercury concentrations and early child neurodevelopment in a population with a fish-rich diet. Wahlberg K et al. 2018 Environment international
29771645 Common polymorphisms in antioxidant genes are associated with diabetic nephropathy in Type 2 diabetes patients. Klen J et al. 2015 Personalized medicine
29785881 Variants in genes coding for glutathione S-transferases and asthma outcomes in children. Turner S et al. 2018 Pharmacogenomics
29805847 Frequency of NAT2 and GSTP1 polymorphisms in the Kazakh population. Iskakova A et al. 2013 Central Asian journal of global health
30038720 <i>GSTP1</i> rs1695 is associated with both hematological toxicity and prognosis of ovarian cancer treated with paclitaxel plus carboplatin combination chemotherapy: a comprehensive analysis using targeted resequencing of 100 pharmacogenes. Yoshihama T et al. 2018 Oncotarget
30112115 Association between genetic polymorphisms and platinum-induced ototoxicity in children. Lui G et al. 2018 Oncotarget
30121884 Association Between GSTP1 Ile105Val Genetic Polymorphism and Dependency to Heroin and Opium. Rezaei M et al. 2019 Biochemical genetics

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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