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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

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.

rs11191439

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:102878966 (GRCh38.p13) 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
T>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.103463 (33845/327122, ALFA)
C=0.109793 (29061/264690, TOPMED)
C=0.091945 (22826/248258, GnomAD_exome) (+ 25 more)
C=0.106229 (14891/140178, GnomAD)
C=0.093491 (11278/120632, ExAC)
C=0.10355 (8149/78696, PAGE_STUDY)
C=0.01712 (287/16760, 8.3KJPN)
C=0.10663 (1277/11976, GO-ESP)
C=0.0771 (386/5008, 1000G)
C=0.0967 (433/4480, Estonian)
C=0.1082 (417/3854, ALSPAC)
C=0.1065 (395/3708, TWINSUK)
C=0.0161 (47/2922, KOREAN)
C=0.0761 (144/1892, HapMap)
C=0.0169 (31/1832, Korea1K)
C=0.1206 (137/1136, Daghestan)
C=0.126 (126/998, GoNL)
C=0.016 (13/790, PRJEB37584)
C=0.126 (79/626, Chileans)
C=0.100 (60/600, NorthernSweden)
C=0.135 (72/534, MGP)
C=0.072 (22/304, FINRISK)
C=0.104 (25/240, PharmGKB)
C=0.213 (46/216, Qatari)
T=0.45 (44/98, SGDP_PRJ)
C=0.25 (10/40, GENOME_DK)
T=0.50 (7/14, Siberian)
C=0.50 (7/14, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
AS3MT : Missense Variant
BORCS7-ASMT : Non Coding Transcript Variant
Publications
20 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.p13 chr 10 NC_000010.11:g.102878966T>A
GRCh38.p13 chr 10 NC_000010.11:g.102878966T>C
GRCh37.p13 chr 10 NC_000010.10:g.104638723T>A
GRCh37.p13 chr 10 NC_000010.10:g.104638723T>C
Gene: AS3MT, arsenite methyltransferase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
AS3MT transcript NM_020682.4:c.860T>A M [ATG] > K [AAG] Coding Sequence Variant
arsenite methyltransferase NP_065733.2:p.Met287Lys M (Met) > K (Lys) Missense Variant
AS3MT transcript NM_020682.4:c.860T>C M [ATG] > T [ACG] Coding Sequence Variant
arsenite methyltransferase NP_065733.2:p.Met287Thr M (Met) > T (Thr) Missense Variant
Gene: BORCS7-ASMT, BORCS7-ASMT readthrough (NMD candidate) (plus strand)
Molecule type Change Amino acid[Codon] SO Term
BORCS7-ASMT transcript NR_037644.1:n.1265T>A N/A Non Coding Transcript Variant
BORCS7-ASMT transcript NR_037644.1:n.1265T>C N/A Non Coding Transcript 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

ALFA Allele Frequency (New)
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 327122 T=0.896537 A=0.000000, C=0.103463
European Sub 275672 T=0.893482 A=0.000000, C=0.106518
African Sub 11310 T=0.90575 A=0.00000, C=0.09425
African Others Sub 370 T=0.914 A=0.000, C=0.086
African American Sub 10940 T=0.90548 A=0.00000, C=0.09452
Asian Sub 6948 T=0.9883 A=0.0000, C=0.0117
East Asian Sub 4962 T=0.9887 A=0.0000, C=0.0113
Other Asian Sub 1986 T=0.9874 A=0.0000, C=0.0126
Latin American 1 Sub 1492 T=0.8727 A=0.0000, C=0.1273
Latin American 2 Sub 8700 T=0.9068 A=0.0000, C=0.0932
South Asian Sub 366 T=0.954 A=0.000, C=0.046
Other Sub 22634 T=0.89768 A=0.00000, C=0.10232


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
TopMed Global Study-wide 264690 T=0.890207 C=0.109793
gnomAD - Exomes Global Study-wide 248258 T=0.908055 C=0.091945
gnomAD - Exomes European Sub 134376 T=0.898360 C=0.101640
gnomAD - Exomes Asian Sub 48186 T=0.95148 C=0.04852
gnomAD - Exomes American Sub 34178 T=0.90684 C=0.09316
gnomAD - Exomes African Sub 15460 T=0.88525 C=0.11475
gnomAD - Exomes Ashkenazi Jewish Sub 10030 T=0.87856 C=0.12144
gnomAD - Exomes Other Sub 6028 T=0.8915 C=0.1085
gnomAD - Genomes Global Study-wide 140178 T=0.893771 C=0.106229
gnomAD - Genomes European Sub 75932 T=0.90036 C=0.09964
gnomAD - Genomes African Sub 42002 T=0.88134 C=0.11866
gnomAD - Genomes American Sub 13636 T=0.87812 C=0.12188
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.8790 C=0.1210
gnomAD - Genomes East Asian Sub 3132 T=0.9844 C=0.0156
gnomAD - Genomes Other Sub 2154 T=0.8942 C=0.1058
ExAC Global Study-wide 120632 T=0.906509 C=0.093491
ExAC Europe Sub 73274 T=0.89419 C=0.10581
ExAC Asian Sub 25102 T=0.95028 C=0.04972
ExAC American Sub 11566 T=0.90922 C=0.09078
ExAC African Sub 9792 T=0.8840 C=0.1160
ExAC Other Sub 898 T=0.899 C=0.101
The PAGE Study Global Study-wide 78696 T=0.89645 C=0.10355
The PAGE Study AfricanAmerican Sub 32512 T=0.88561 C=0.11439
The PAGE Study Mexican Sub 10808 T=0.90322 C=0.09678
The PAGE Study Asian Sub 8318 T=0.9782 C=0.0218
The PAGE Study PuertoRican Sub 7918 T=0.8306 C=0.1694
The PAGE Study NativeHawaiian Sub 4534 T=0.9627 C=0.0373
The PAGE Study Cuban Sub 4230 T=0.8714 C=0.1286
The PAGE Study Dominican Sub 3828 T=0.8681 C=0.1319
The PAGE Study CentralAmerican Sub 2450 T=0.8906 C=0.1094
The PAGE Study SouthAmerican Sub 1982 T=0.9057 C=0.0943
The PAGE Study NativeAmerican Sub 1260 T=0.8865 C=0.1135
The PAGE Study SouthAsian Sub 856 T=0.946 C=0.054
8.3KJPN JAPANESE Study-wide 16760 T=0.98288 C=0.01712
GO Exome Sequencing Project Global Study-wide 11976 T=0.89337 C=0.10663
GO Exome Sequencing Project European American Sub 8202 T=0.8972 C=0.1028
GO Exome Sequencing Project African American Sub 3774 T=0.8850 C=0.1150
1000Genomes Global Study-wide 5008 T=0.9229 C=0.0771
1000Genomes African Sub 1322 T=0.9062 C=0.0938
1000Genomes East Asian Sub 1008 T=0.9782 C=0.0218
1000Genomes Europe Sub 1006 T=0.8867 C=0.1133
1000Genomes South Asian Sub 978 T=0.943 C=0.057
1000Genomes American Sub 694 T=0.899 C=0.101
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.9033 C=0.0967
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.8918 C=0.1082
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.8935 C=0.1065
KOREAN population from KRGDB KOREAN Study-wide 2922 T=0.9839 C=0.0161
HapMap Global Study-wide 1892 T=0.9239 C=0.0761
HapMap American Sub 770 T=0.930 C=0.070
HapMap African Sub 692 T=0.909 C=0.091
HapMap Asian Sub 254 T=0.976 C=0.024
HapMap Europe Sub 176 T=0.881 C=0.119
Korean Genome Project KOREAN Study-wide 1832 T=0.9831 C=0.0169
Genome-wide autozygosity in Daghestan Global Study-wide 1136 T=0.8794 C=0.1206
Genome-wide autozygosity in Daghestan Daghestan Sub 628 T=0.869 C=0.131
Genome-wide autozygosity in Daghestan Near_East Sub 144 T=0.875 C=0.125
Genome-wide autozygosity in Daghestan Central Asia Sub 122 T=0.893 C=0.107
Genome-wide autozygosity in Daghestan Europe Sub 108 T=0.806 C=0.194
Genome-wide autozygosity in Daghestan South Asian Sub 98 T=0.98 C=0.02
Genome-wide autozygosity in Daghestan Caucasus Sub 36 T=0.97 C=0.03
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.874 C=0.126
CNV burdens in cranial meningiomas Global Study-wide 790 T=0.984 C=0.016
CNV burdens in cranial meningiomas CRM Sub 790 T=0.984 C=0.016
Chileans Chilean Study-wide 626 T=0.874 C=0.126
Northern Sweden ACPOP Study-wide 600 T=0.900 C=0.100
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.865 C=0.135
FINRISK Finnish from FINRISK project Study-wide 304 T=0.928 C=0.072
PharmGKB Aggregated Global Study-wide 240 T=0.896 C=0.104
PharmGKB Aggregated PA137857849 Sub 240 T=0.896 C=0.104
Qatari Global Study-wide 216 T=0.787 C=0.213
SGDP_PRJ Global Study-wide 98 T=0.45 C=0.55
The Danish reference pan genome Danish Study-wide 40 T=0.75 C=0.25
Siberian Global Study-wide 14 T=0.50 C=0.50
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 T= A C
GRCh38.p13 chr 10 NC_000010.11:g.102878966= NC_000010.11:g.102878966T>A NC_000010.11:g.102878966T>C
GRCh37.p13 chr 10 NC_000010.10:g.104638723= NC_000010.10:g.104638723T>A NC_000010.10:g.104638723T>C
AS3MT transcript NM_020682.4:c.860= NM_020682.4:c.860T>A NM_020682.4:c.860T>C
AS3MT transcript NM_020682.3:c.860= NM_020682.3:c.860T>A NM_020682.3:c.860T>C
BORCS7-ASMT transcript NR_037644.1:n.1265= NR_037644.1:n.1265T>A NR_037644.1:n.1265T>C
arsenite methyltransferase NP_065733.2:p.Met287= NP_065733.2:p.Met287Lys NP_065733.2:p.Met287Thr
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#.

125 SubSNP, 27 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss15584276 Feb 27, 2004 (120)
2 SC_SNP ss18630653 Feb 27, 2004 (120)
3 PERLEGEN ss24497419 Sep 20, 2004 (123)
4 KLIMECKI_LAB ss28532946 Dec 02, 2004 (126)
5 KLIMECKI_LAB ss28532982 Dec 02, 2004 (126)
6 ILLUMINA ss65725205 Oct 16, 2006 (127)
7 PERLEGEN ss69089611 May 18, 2007 (127)
8 PHARMGKB_PPII ss69366520 May 18, 2007 (127)
9 ILLUMINA ss74855132 Dec 07, 2007 (129)
10 AFFY ss76743615 Dec 07, 2007 (129)
11 KRIBB_YJKIM ss105026388 Feb 06, 2009 (130)
12 SEATTLESEQ ss159721341 Dec 01, 2009 (131)
13 ILLUMINA ss159968204 Dec 01, 2009 (131)
14 COMPLETE_GENOMICS ss168719467 Jul 04, 2010 (132)
15 ILLUMINA ss171145997 Jul 04, 2010 (132)
16 BUSHMAN ss201947434 Jul 04, 2010 (132)
17 1000GENOMES ss224909369 Jul 14, 2010 (132)
18 1000GENOMES ss235311875 Jul 15, 2010 (132)
19 ILLUMINA ss410778343 Sep 17, 2011 (135)
20 ILLUMINA ss479492626 May 04, 2012 (137)
21 ILLUMINA ss479496540 May 04, 2012 (137)
22 ILLUMINA ss479938582 Sep 08, 2015 (146)
23 ILLUMINA ss484545682 May 04, 2012 (137)
24 1000GENOMES ss491004025 May 04, 2012 (137)
25 EXOME_CHIP ss491440048 May 04, 2012 (137)
26 CLINSEQ_SNP ss491631842 May 04, 2012 (137)
27 ILLUMINA ss536684900 Sep 08, 2015 (146)
28 TISHKOFF ss562173434 Apr 25, 2013 (138)
29 SSMP ss657259734 Apr 25, 2013 (138)
30 NHLBI-ESP ss712966741 Apr 25, 2013 (138)
31 ILLUMINA ss780668792 Aug 21, 2014 (142)
32 ILLUMINA ss780890201 Aug 21, 2014 (142)
33 ILLUMINA ss782719499 Aug 21, 2014 (142)
34 ILLUMINA ss783576519 Aug 21, 2014 (142)
35 ILLUMINA ss783687099 Aug 21, 2014 (142)
36 ILLUMINA ss831971047 Apr 01, 2015 (144)
37 ILLUMINA ss836164681 Aug 21, 2014 (142)
38 JMKIDD_LAB ss974476045 Aug 21, 2014 (142)
39 EVA-GONL ss987860843 Aug 21, 2014 (142)
40 JMKIDD_LAB ss1067515923 Aug 21, 2014 (142)
41 JMKIDD_LAB ss1077252987 Aug 21, 2014 (142)
42 1000GENOMES ss1338837967 Aug 21, 2014 (142)
43 HAMMER_LAB ss1397590735 Sep 08, 2015 (146)
44 DDI ss1426427397 Apr 01, 2015 (144)
45 EVA_GENOME_DK ss1575324993 Apr 01, 2015 (144)
46 EVA_FINRISK ss1584070201 Apr 01, 2015 (144)
47 EVA_DECODE ss1597535779 Apr 01, 2015 (144)
48 EVA_UK10K_ALSPAC ss1625311068 Apr 01, 2015 (144)
49 EVA_UK10K_TWINSUK ss1668305101 Apr 01, 2015 (144)
50 EVA_EXAC ss1690062310 Apr 01, 2015 (144)
51 EVA_MGP ss1711268844 Apr 01, 2015 (144)
52 EVA_SVP ss1713206920 Apr 01, 2015 (144)
53 ILLUMINA ss1751943975 Sep 08, 2015 (146)
54 ILLUMINA ss1751943976 Sep 08, 2015 (146)
55 HAMMER_LAB ss1806543429 Sep 08, 2015 (146)
56 ILLUMINA ss1917851118 Feb 12, 2016 (147)
57 WEILL_CORNELL_DGM ss1931224205 Feb 12, 2016 (147)
58 ILLUMINA ss1946291972 Feb 12, 2016 (147)
59 ILLUMINA ss1959290434 Feb 12, 2016 (147)
60 AMU ss1966650858 Feb 12, 2016 (147)
61 JJLAB ss2026342503 Sep 14, 2016 (149)
62 ILLUMINA ss2094789029 Dec 20, 2016 (150)
63 ILLUMINA ss2095017024 Dec 20, 2016 (150)
64 USC_VALOUEV ss2154621264 Nov 08, 2017 (151)
65 HUMAN_LONGEVITY ss2177598927 Dec 20, 2016 (150)
66 TOPMED ss2340721400 Dec 20, 2016 (150)
67 SYSTEMSBIOZJU ss2627639320 Nov 08, 2017 (151)
68 ILLUMINA ss2632755369 Nov 08, 2017 (151)
69 GRF ss2698874968 Nov 08, 2017 (151)
70 ILLUMINA ss2710718879 Nov 08, 2017 (151)
71 GNOMAD ss2738499392 Nov 08, 2017 (151)
72 GNOMAD ss2748464082 Nov 08, 2017 (151)
73 GNOMAD ss2892758517 Nov 08, 2017 (151)
74 AFFY ss2984922255 Nov 08, 2017 (151)
75 AFFY ss2985569523 Nov 08, 2017 (151)
76 SWEGEN ss3007057119 Nov 08, 2017 (151)
77 ILLUMINA ss3021270535 Nov 08, 2017 (151)
78 BIOINF_KMB_FNS_UNIBA ss3026960935 Nov 08, 2017 (151)
79 TOPMED ss3128973899 Nov 08, 2017 (151)
80 TOPMED ss3128973900 Nov 08, 2017 (151)
81 CSHL ss3349285183 Nov 08, 2017 (151)
82 ILLUMINA ss3626522546 Oct 12, 2018 (152)
83 ILLUMINA ss3626522547 Oct 12, 2018 (152)
84 ILLUMINA ss3630778030 Oct 12, 2018 (152)
85 ILLUMINA ss3632962506 Oct 12, 2018 (152)
86 ILLUMINA ss3633660265 Oct 12, 2018 (152)
87 ILLUMINA ss3634421401 Oct 12, 2018 (152)
88 ILLUMINA ss3634421402 Oct 12, 2018 (152)
89 ILLUMINA ss3635352476 Oct 12, 2018 (152)
90 ILLUMINA ss3636105830 Oct 12, 2018 (152)
91 ILLUMINA ss3637103204 Oct 12, 2018 (152)
92 ILLUMINA ss3637871026 Oct 12, 2018 (152)
93 ILLUMINA ss3640128742 Oct 12, 2018 (152)
94 ILLUMINA ss3640128743 Oct 12, 2018 (152)
95 ILLUMINA ss3642872731 Oct 12, 2018 (152)
96 ILLUMINA ss3644544720 Oct 12, 2018 (152)
97 OMUKHERJEE_ADBS ss3646414941 Oct 12, 2018 (152)
98 ILLUMINA ss3651629513 Oct 12, 2018 (152)
99 ILLUMINA ss3651629514 Oct 12, 2018 (152)
100 ILLUMINA ss3653693121 Oct 12, 2018 (152)
101 EGCUT_WGS ss3674468107 Jul 13, 2019 (153)
102 EVA_DECODE ss3690572212 Jul 13, 2019 (153)
103 ILLUMINA ss3725184587 Jul 13, 2019 (153)
104 ACPOP ss3737631725 Jul 13, 2019 (153)
105 ILLUMINA ss3744371331 Jul 13, 2019 (153)
106 ILLUMINA ss3744722348 Jul 13, 2019 (153)
107 ILLUMINA ss3744722349 Jul 13, 2019 (153)
108 EVA ss3748533712 Jul 13, 2019 (153)
109 PAGE_CC ss3771579929 Jul 13, 2019 (153)
110 ILLUMINA ss3772222669 Jul 13, 2019 (153)
111 ILLUMINA ss3772222670 Jul 13, 2019 (153)
112 KHV_HUMAN_GENOMES ss3813895748 Jul 13, 2019 (153)
113 EVA ss3824551561 Apr 26, 2020 (154)
114 EVA ss3825783123 Apr 26, 2020 (154)
115 EVA ss3832303803 Apr 26, 2020 (154)
116 SGDP_PRJ ss3874937819 Apr 26, 2020 (154)
117 KRGDB ss3923089655 Apr 26, 2020 (154)
118 KOGIC ss3968571505 Apr 26, 2020 (154)
119 FSA-LAB ss3983985707 Apr 26, 2021 (155)
120 EVA ss3984640037 Apr 26, 2021 (155)
121 EVA ss3986497453 Apr 26, 2021 (155)
122 TOPMED ss4864541019 Apr 26, 2021 (155)
123 TOMMO_GENOMICS ss5199225577 Apr 26, 2021 (155)
124 EVA ss5236886972 Apr 26, 2021 (155)
125 EVA ss5237482887 Apr 26, 2021 (155)
126 1000Genomes NC_000010.10 - 104638723 Oct 12, 2018 (152)
127 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 104638723 Oct 12, 2018 (152)
128 Chileans NC_000010.10 - 104638723 Apr 26, 2020 (154)
129 Genome-wide autozygosity in Daghestan NC_000010.9 - 104628713 Apr 26, 2020 (154)
130 Genetic variation in the Estonian population NC_000010.10 - 104638723 Oct 12, 2018 (152)
131 ExAC NC_000010.10 - 104638723 Oct 12, 2018 (152)
132 FINRISK NC_000010.10 - 104638723 Apr 26, 2020 (154)
133 The Danish reference pan genome NC_000010.10 - 104638723 Apr 26, 2020 (154)
134 gnomAD - Genomes NC_000010.11 - 102878966 Apr 26, 2021 (155)
135 gnomAD - Exomes NC_000010.10 - 104638723 Jul 13, 2019 (153)
136 GO Exome Sequencing Project NC_000010.10 - 104638723 Oct 12, 2018 (152)
137 Genome of the Netherlands Release 5 NC_000010.10 - 104638723 Apr 26, 2020 (154)
138 HapMap NC_000010.11 - 102878966 Apr 26, 2020 (154)
139 KOREAN population from KRGDB NC_000010.10 - 104638723 Apr 26, 2020 (154)
140 Korean Genome Project NC_000010.11 - 102878966 Apr 26, 2020 (154)
141 Medical Genome Project healthy controls from Spanish population NC_000010.10 - 104638723 Apr 26, 2020 (154)
142 Northern Sweden NC_000010.10 - 104638723 Jul 13, 2019 (153)
143 The PAGE Study NC_000010.11 - 102878966 Jul 13, 2019 (153)
144 CNV burdens in cranial meningiomas NC_000010.10 - 104638723 Apr 26, 2021 (155)
145 PharmGKB Aggregated NC_000010.11 - 102878966 Apr 26, 2020 (154)
146 Qatari NC_000010.10 - 104638723 Apr 26, 2020 (154)
147 SGDP_PRJ NC_000010.10 - 104638723 Apr 26, 2020 (154)
148 Siberian NC_000010.10 - 104638723 Apr 26, 2020 (154)
149 8.3KJPN NC_000010.10 - 104638723 Apr 26, 2021 (155)
150 TopMed NC_000010.11 - 102878966 Apr 26, 2021 (155)
151 UK 10K study - Twins NC_000010.10 - 104638723 Oct 12, 2018 (152)
152 ALFA NC_000010.11 - 102878966 Apr 26, 2021 (155)
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)
rs17725209 Oct 08, 2004 (123)
rs17884200 Mar 11, 2006 (126)
rs17885947 Mar 11, 2006 (126)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
4017907844, ss3128973899 NC_000010.11:102878965:T:A NC_000010.11:102878965:T:A (self)
62138, ss76743615, ss159968204, ss168719467, ss201947434, ss410778343, ss479492626, ss491631842, ss1397590735, ss1597535779, ss1713206920, ss3642872731 NC_000010.9:104628712:T:C NC_000010.11:102878965:T:C (self)
51277139, 28472784, 59662, 20206355, 295407, 66662, 2303943, 7701179, 1009233, 12693677, 30267049, 384604, 10916590, 189507, 13266135, 26954799, 7137618, 57194884, 28472784, ss224909369, ss235311875, ss479496540, ss479938582, ss484545682, ss491004025, ss491440048, ss536684900, ss562173434, ss657259734, ss712966741, ss780668792, ss780890201, ss782719499, ss783576519, ss783687099, ss831971047, ss836164681, ss974476045, ss987860843, ss1067515923, ss1077252987, ss1338837967, ss1426427397, ss1575324993, ss1584070201, ss1625311068, ss1668305101, ss1690062310, ss1711268844, ss1751943975, ss1751943976, ss1806543429, ss1917851118, ss1931224205, ss1946291972, ss1959290434, ss1966650858, ss2026342503, ss2094789029, ss2095017024, ss2154621264, ss2340721400, ss2627639320, ss2632755369, ss2698874968, ss2710718879, ss2738499392, ss2748464082, ss2892758517, ss2984922255, ss2985569523, ss3007057119, ss3021270535, ss3349285183, ss3626522546, ss3626522547, ss3630778030, ss3632962506, ss3633660265, ss3634421401, ss3634421402, ss3635352476, ss3636105830, ss3637103204, ss3637871026, ss3640128742, ss3640128743, ss3644544720, ss3646414941, ss3651629513, ss3651629514, ss3653693121, ss3674468107, ss3737631725, ss3744371331, ss3744722348, ss3744722349, ss3748533712, ss3772222669, ss3772222670, ss3824551561, ss3825783123, ss3832303803, ss3874937819, ss3923089655, ss3983985707, ss3984640037, ss3986497453, ss5199225577, ss5237482887 NC_000010.10:104638722:T:C NC_000010.11:102878965:T:C (self)
362354395, 478681, 24949506, 801398, 1293, 50351289, 80086674, 4017907844, ss2177598927, ss3026960935, ss3128973900, ss3690572212, ss3725184587, ss3771579929, ss3813895748, ss3968571505, ss4864541019, ss5236886972 NC_000010.11:102878965:T:C NC_000010.11:102878965:T:C (self)
ss15584276, ss18630653 NT_030059.11:23387248:T:C NC_000010.11:102878965:T:C (self)
ss24497419, ss28532946, ss28532982, ss65725205, ss69089611, ss69366520, ss74855132, ss105026388, ss159721341, ss171145997 NT_030059.13:55443186:T:C NC_000010.11:102878965:T:C (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

20 citations for rs11191439
PMID Title Author Year Journal
17889916 Population differences in the human arsenic (+3 oxidation state) methyltransferase (AS3MT) gene polymorphism detected by using genotyping method. Fujihara J et al. 2007 Toxicology and applied pharmacology
19538983 Association of AS3MT polymorphisms and the risk of premalignant arsenic skin lesions. Valenzuela OL et al. 2009 Toxicology and applied pharmacology
20014157 Genetic association between intronic variants in AS3MT and arsenic methylation efficiency is focused on a large linkage disequilibrium cluster in chromosome 10. Gomez-Rubio P et al. 2010 Journal of applied toxicology
21247820 Polymorphisms in arsenic(+III oxidation state) methyltransferase (AS3MT) predict gene expression of AS3MT as well as arsenic metabolism. Engström K et al. 2011 Environmental health perspectives
21731446 Individual variations in inorganic arsenic metabolism associated with AS3MT genetic polymorphisms. Agusa T et al. 2011 International journal of molecular sciences
22306368 A case-control study of polymorphisms in xenobiotic and arsenic metabolism genes and arsenic-related bladder cancer in New Hampshire. Lesseur C et al. 2012 Toxicology letters
22339537 GSTO and AS3MT genetic polymorphisms and differences in urinary arsenic concentrations among residents in Bangladesh. Rodrigues EG et al. 2012 Biomarkers
22383894 Genome-wide association study identifies chromosome 10q24.32 variants associated with arsenic metabolism and toxicity phenotypes in Bangladesh. Pierce BL et al. 2012 PLoS genetics
22747749 Genetic variation in glutathione S-transferase omega-1, arsenic methyltransferase and methylene-tetrahydrofolate reductase, arsenic exposure and bladder cancer: a case-control study. Beebe-Dimmer JL et al. 2012 Environmental health
23665909 N-6-adenine-specific DNA methyltransferase 1 (N6AMT1) polymorphisms and arsenic methylation in Andean women. Harari F et al. 2013 Environmental health perspectives
24792412 AS3MT, GSTO, and PNP polymorphisms: impact on arsenic methylation and implications for disease susceptibility. Antonelli R et al. 2014 Environmental research
25156000 Genetic variation in arsenic (+3 oxidation state) methyltransferase (AS3MT), arsenic metabolism and risk of basal cell carcinoma in a European population. Engström KS et al. 2015 Environmental and molecular mutagenesis
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
28286610 Frequency of M287T/AS3MT Single Nucleotide Polymorphism in an Iranian Population. Farhid F et al. 2017 International journal of hematology-oncology and stem cell research
28640505 Associations between arsenic (+3 oxidation state) methyltransferase (AS3MT) and N-6 adenine-specific DNA methyltransferase 1 (N6AMT1) polymorphisms, arsenic metabolism, and cancer risk in a chilean population. de la Rosa R et al. 2017 Environmental and molecular mutagenesis
29924282 [Polymorphisms of the Arsenite Methyltransferase (As3MT) gene and urinary efficiency of arsenic metabolism in a population in northern Mexico]. García-Alvarado FJ et al. 2018 Revista peruana de medicina experimental y salud publica
30376134 AS3MT Polymorphisms, Arsenic Metabolism, and the Hematological and Biochemical Values in APL Patients Treated with Arsenic Trioxide. Lu J et al. 2018 Toxicological sciences
30612060 Arsenic metabolites; selenium; and AS3MT, MTHFR, AQP4, AQP9, SELENOP, INMT, and MT2A polymorphisms in Croatian-Slovenian population from PHIME-CROME study. Stajnko A et al. 2019 Environmental research
30703610 Gene-environment interaction and maternal arsenic methylation efficiency during pregnancy. Gao S et al. 2019 Environment international
32112223 Polymorphisms in arsenic (+ 3 oxidation state) methyltransferase (AS3MT) predict the occurrence of hyperleukocytosis and arsenic metabolism in APL patients treated with As<sub>2</sub>O<sub>3</sub>. Liu WS et al. 2020 Archives of toxicology
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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

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

Software version is: 2.0.1.post596+ae089ad