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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.

rs4433435

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:171254812 (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
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.490430 (129812/264690, TOPMED)
C=0.39922 (6691/16760, 8.3KJPN)
C=0.29417 (4066/13822, ALFA) (+ 13 more)
G=0.4655 (2331/5008, 1000G)
C=0.3632 (1627/4480, Estonian)
C=0.3742 (1442/3854, ALSPAC)
C=0.3935 (1459/3708, TWINSUK)
C=0.3741 (1096/2930, KOREAN)
C=0.4093 (465/1136, Daghestan)
C=0.379 (378/998, GoNL)
C=0.373 (224/600, NorthernSweden)
G=0.330 (128/388, SGDP_PRJ)
G=0.421 (91/216, Qatari)
C=0.264 (56/212, Vietnamese)
G=0.47 (19/40, GENOME_DK)
G=0.42 (10/24, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FMO1 : Intron Variant
Publications
2 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 1 NC_000001.11:g.171254812G>A
GRCh38.p13 chr 1 NC_000001.11:g.171254812G>C
GRCh37.p13 chr 1 NC_000001.10:g.171223951G>A
GRCh37.p13 chr 1 NC_000001.10:g.171223951G>C
Gene: FMO1, flavin containing dimethylaniline monoxygenase 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
FMO1 transcript variant 3 NM_001282693.2:c.-6-3270G…

NM_001282693.2:c.-6-3270G>A

N/A Intron Variant
FMO1 transcript variant 4 NM_001282694.2:c.-6-3270G…

NM_001282694.2:c.-6-3270G>A

N/A Intron Variant
FMO1 transcript variant 2 NM_002021.3:c.-6-3270G>A N/A Intron Variant
FMO1 transcript variant 1 NM_001282692.1:c. N/A Genic Upstream Transcript Variant
FMO1 transcript variant X4 XM_005245038.4:c.-6-3270G…

XM_005245038.4:c.-6-3270G>A

N/A Intron Variant
FMO1 transcript variant X1 XM_006711241.4:c.-6-3270G…

XM_006711241.4:c.-6-3270G>A

N/A Intron Variant
FMO1 transcript variant X3 XM_006711242.4:c.-6-3270G…

XM_006711242.4:c.-6-3270G>A

N/A Intron Variant
FMO1 transcript variant X2 XM_005245037.3:c. N/A Genic Upstream 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
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 13822 G=0.70583 A=0.00000, C=0.29417
European Sub 12820 G=0.70187 A=0.00000, C=0.29813
African Sub 284 G=0.651 A=0.000, C=0.349
African Others Sub 8 G=0.5 A=0.0, C=0.5
African American Sub 276 G=0.656 A=0.000, C=0.344
Asian Sub 46 G=1.00 A=0.00, C=0.00
East Asian Sub 38 G=1.00 A=0.00, C=0.00
Other Asian Sub 8 G=1.0 A=0.0, C=0.0
Latin American 1 Sub 48 G=1.00 A=0.00, C=0.00
Latin American 2 Sub 196 G=1.000 A=0.000, C=0.000
South Asian Sub 28 G=0.86 A=0.00, C=0.14
Other Sub 400 G=0.647 A=0.000, C=0.352


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 G=0.490430 C=0.509570
8.3KJPN JAPANESE Study-wide 16760 G=0.60078 C=0.39922
1000Genomes Global Study-wide 5008 G=0.4655 C=0.5345
1000Genomes African Sub 1322 G=0.1936 C=0.8064
1000Genomes East Asian Sub 1008 G=0.6429 C=0.3571
1000Genomes Europe Sub 1006 G=0.6163 C=0.3837
1000Genomes South Asian Sub 978 G=0.421 C=0.579
1000Genomes American Sub 694 G=0.569 C=0.431
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.6368 C=0.3632
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.6258 C=0.3742
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.6065 C=0.3935
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.6259 A=0.0000, C=0.3741
Genome-wide autozygosity in Daghestan Global Study-wide 1136 G=0.5907 C=0.4093
Genome-wide autozygosity in Daghestan Daghestan Sub 628 G=0.642 C=0.358
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=0.549 C=0.451
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.615 C=0.385
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.509 C=0.491
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.36 C=0.64
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.67 C=0.33
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.621 C=0.379
Northern Sweden ACPOP Study-wide 600 G=0.627 C=0.373
SGDP_PRJ Global Study-wide 388 G=0.330 C=0.670
Qatari Global Study-wide 216 G=0.421 C=0.579
A Vietnamese Genetic Variation Database Global Study-wide 212 G=0.736 C=0.264
The Danish reference pan genome Danish Study-wide 40 G=0.47 C=0.53
Siberian Global Study-wide 24 G=0.42 C=0.58
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
GRCh38.p13 chr 1 NC_000001.11:g.171254812= NC_000001.11:g.171254812G>A NC_000001.11:g.171254812G>C
GRCh37.p13 chr 1 NC_000001.10:g.171223951= NC_000001.10:g.171223951G>A NC_000001.10:g.171223951G>C
FMO1 transcript variant 3 NM_001282693.2:c.-6-3270= NM_001282693.2:c.-6-3270G>A NM_001282693.2:c.-6-3270G>C
FMO1 transcript variant 4 NM_001282694.2:c.-6-3270= NM_001282694.2:c.-6-3270G>A NM_001282694.2:c.-6-3270G>C
FMO1 transcript NM_002021.1:c.-6-3270= NM_002021.1:c.-6-3270G>A NM_002021.1:c.-6-3270G>C
FMO1 transcript variant 2 NM_002021.3:c.-6-3270= NM_002021.3:c.-6-3270G>A NM_002021.3:c.-6-3270G>C
FMO1 transcript variant X1 XM_005245034.1:c.-6-3270= XM_005245034.1:c.-6-3270G>A XM_005245034.1:c.-6-3270G>C
FMO1 transcript variant X2 XM_005245035.1:c.-6-3270= XM_005245035.1:c.-6-3270G>A XM_005245035.1:c.-6-3270G>C
FMO1 transcript variant X5 XM_005245038.1:c.-6-3270= XM_005245038.1:c.-6-3270G>A XM_005245038.1:c.-6-3270G>C
FMO1 transcript variant X4 XM_005245038.4:c.-6-3270= XM_005245038.4:c.-6-3270G>A XM_005245038.4:c.-6-3270G>C
FMO1 transcript variant X1 XM_006711241.4:c.-6-3270= XM_006711241.4:c.-6-3270G>A XM_006711241.4:c.-6-3270G>C
FMO1 transcript variant X3 XM_006711242.4:c.-6-3270= XM_006711242.4:c.-6-3270G>A XM_006711242.4:c.-6-3270G>C
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#.

101 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss5940451 Feb 20, 2003 (111)
2 PERLEGEN ss23835684 Sep 20, 2004 (123)
3 EGP_SNPS ss32479682 May 24, 2005 (125)
4 ABI ss43878329 Mar 14, 2006 (126)
5 EGP_SNPS ss66860791 Dec 03, 2006 (127)
6 PERLEGEN ss68784612 May 16, 2007 (127)
7 ILLUMINA ss75232718 Dec 06, 2007 (129)
8 HGSV ss84825505 Dec 15, 2007 (130)
9 BCMHGSC_JDW ss87867577 Mar 23, 2008 (129)
10 HUMANGENOME_JCVI ss99261392 Feb 06, 2009 (130)
11 BGI ss102795951 Dec 01, 2009 (131)
12 1000GENOMES ss111334987 Jan 25, 2009 (130)
13 ILLUMINA-UK ss119087359 Feb 15, 2009 (130)
14 KRIBB_YJKIM ss119476867 Dec 01, 2009 (131)
15 ENSEMBL ss138103513 Dec 01, 2009 (131)
16 ILLUMINA ss154294838 Dec 01, 2009 (131)
17 ILLUMINA ss159101927 Dec 01, 2009 (131)
18 ILLUMINA ss159471746 Dec 01, 2009 (131)
19 ILLUMINA ss160679336 Dec 01, 2009 (131)
20 COMPLETE_GENOMICS ss164408473 Jul 04, 2010 (132)
21 COMPLETE_GENOMICS ss165427372 Jul 04, 2010 (132)
22 COMPLETE_GENOMICS ss167272441 Jul 04, 2010 (132)
23 ILLUMINA ss173732763 Jul 04, 2010 (132)
24 BUSHMAN ss199237878 Jul 04, 2010 (132)
25 1000GENOMES ss218714767 Jul 14, 2010 (132)
26 1000GENOMES ss230779762 Jul 14, 2010 (132)
27 1000GENOMES ss238417355 Jul 15, 2010 (132)
28 GMI ss276099333 May 04, 2012 (137)
29 GMI ss284174515 Apr 25, 2013 (138)
30 PJP ss290662612 May 09, 2011 (134)
31 ILLUMINA ss480945420 May 04, 2012 (137)
32 ILLUMINA ss480965074 May 04, 2012 (137)
33 ILLUMINA ss481931771 Sep 08, 2015 (146)
34 ILLUMINA ss485267624 May 04, 2012 (137)
35 ILLUMINA ss537235914 Sep 08, 2015 (146)
36 TISHKOFF ss554841732 Apr 25, 2013 (138)
37 SSMP ss648495523 Apr 25, 2013 (138)
38 ILLUMINA ss778342328 Sep 08, 2015 (146)
39 ILLUMINA ss783079749 Sep 08, 2015 (146)
40 ILLUMINA ss784037401 Sep 08, 2015 (146)
41 ILLUMINA ss832338057 Sep 08, 2015 (146)
42 ILLUMINA ss832983217 Jul 12, 2019 (153)
43 ILLUMINA ss833796938 Sep 08, 2015 (146)
44 EVA-GONL ss975807820 Aug 21, 2014 (142)
45 JMKIDD_LAB ss1068360868 Aug 21, 2014 (142)
46 1000GENOMES ss1293395819 Aug 21, 2014 (142)
47 HAMMER_LAB ss1397263992 Sep 08, 2015 (146)
48 DDI ss1426016725 Apr 01, 2015 (144)
49 EVA_GENOME_DK ss1574473062 Apr 01, 2015 (144)
50 EVA_DECODE ss1585194156 Apr 01, 2015 (144)
51 EVA_UK10K_ALSPAC ss1601465441 Apr 01, 2015 (144)
52 EVA_UK10K_TWINSUK ss1644459474 Apr 01, 2015 (144)
53 EVA_SVP ss1712381198 Apr 01, 2015 (144)
54 ILLUMINA ss1751881216 Sep 08, 2015 (146)
55 HAMMER_LAB ss1795262169 Sep 08, 2015 (146)
56 WEILL_CORNELL_DGM ss1919044601 Feb 12, 2016 (147)
57 GENOMED ss1966897581 Jul 19, 2016 (147)
58 JJLAB ss2020038574 Sep 14, 2016 (149)
59 USC_VALOUEV ss2148065996 Dec 20, 2016 (150)
60 HUMAN_LONGEVITY ss2167486541 Dec 20, 2016 (150)
61 TOPMED ss2330027452 Dec 20, 2016 (150)
62 SYSTEMSBIOZJU ss2624528322 Nov 08, 2017 (151)
63 ILLUMINA ss2632592439 Nov 08, 2017 (151)
64 GRF ss2698043990 Nov 08, 2017 (151)
65 GNOMAD ss2762636502 Nov 08, 2017 (151)
66 AFFY ss2984885173 Nov 08, 2017 (151)
67 AFFY ss2985530649 Nov 08, 2017 (151)
68 SWEGEN ss2987943376 Nov 08, 2017 (151)
69 BIOINF_KMB_FNS_UNIBA ss3023777985 Nov 08, 2017 (151)
70 TOPMED ss3095164543 Nov 08, 2017 (151)
71 TOPMED ss3095164544 Nov 08, 2017 (151)
72 CSHL ss3343767664 Nov 08, 2017 (151)
73 ILLUMINA ss3626239288 Oct 11, 2018 (152)
74 ILLUMINA ss3630624165 Oct 11, 2018 (152)
75 ILLUMINA ss3632915031 Oct 11, 2018 (152)
76 ILLUMINA ss3633610608 Oct 11, 2018 (152)
77 ILLUMINA ss3634358151 Oct 11, 2018 (152)
78 ILLUMINA ss3635303950 Oct 11, 2018 (152)
79 ILLUMINA ss3636037067 Oct 11, 2018 (152)
80 ILLUMINA ss3637054457 Oct 11, 2018 (152)
81 ILLUMINA ss3637795764 Oct 11, 2018 (152)
82 ILLUMINA ss3640065505 Oct 11, 2018 (152)
83 ILLUMINA ss3642803990 Oct 11, 2018 (152)
84 URBANLAB ss3646818567 Oct 11, 2018 (152)
85 EGCUT_WGS ss3655887391 Jul 12, 2019 (153)
86 EVA_DECODE ss3688013144 Jul 12, 2019 (153)
87 ACPOP ss3727590672 Jul 12, 2019 (153)
88 ILLUMINA ss3744659023 Jul 12, 2019 (153)
89 EVA ss3746952830 Jul 12, 2019 (153)
90 ILLUMINA ss3772160062 Jul 12, 2019 (153)
91 PACBIO ss3783601561 Jul 12, 2019 (153)
92 PACBIO ss3789227721 Jul 12, 2019 (153)
93 PACBIO ss3794099778 Jul 12, 2019 (153)
94 KHV_HUMAN_GENOMES ss3799954860 Jul 12, 2019 (153)
95 EVA ss3826487633 Apr 25, 2020 (154)
96 EVA ss3836640607 Apr 25, 2020 (154)
97 EVA ss3842050581 Apr 25, 2020 (154)
98 SGDP_PRJ ss3850249935 Apr 25, 2020 (154)
99 KRGDB ss3895487434 Apr 25, 2020 (154)
100 TOPMED ss4472395158 Apr 25, 2021 (155)
101 TOMMO_GENOMICS ss5147010732 Apr 25, 2021 (155)
102 1000Genomes NC_000001.10 - 171223951 Oct 11, 2018 (152)
103 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 171223951 Oct 11, 2018 (152)
104 Genome-wide autozygosity in Daghestan NC_000001.9 - 169490575 Apr 25, 2020 (154)
105 Genetic variation in the Estonian population NC_000001.10 - 171223951 Oct 11, 2018 (152)
106 The Danish reference pan genome NC_000001.10 - 171223951 Apr 25, 2020 (154)
107 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 30406365 (NC_000001.11:171254811:G:A 186/140032)
Row 30406366 (NC_000001.11:171254811:G:C 70399/139982)

- Apr 25, 2021 (155)
108 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 30406365 (NC_000001.11:171254811:G:A 186/140032)
Row 30406366 (NC_000001.11:171254811:G:C 70399/139982)

- Apr 25, 2021 (155)
109 Genome of the Netherlands Release 5 NC_000001.10 - 171223951 Apr 25, 2020 (154)
110 KOREAN population from KRGDB NC_000001.10 - 171223951 Apr 25, 2020 (154)
111 Northern Sweden NC_000001.10 - 171223951 Jul 12, 2019 (153)
112 Qatari NC_000001.10 - 171223951 Apr 25, 2020 (154)
113 SGDP_PRJ NC_000001.10 - 171223951 Apr 25, 2020 (154)
114 Siberian NC_000001.10 - 171223951 Apr 25, 2020 (154)
115 8.3KJPN NC_000001.10 - 171223951 Apr 25, 2021 (155)
116 TopMed NC_000001.11 - 171254812 Apr 25, 2021 (155)
117 UK 10K study - Twins NC_000001.10 - 171223951 Oct 11, 2018 (152)
118 A Vietnamese Genetic Variation Database NC_000001.10 - 171223951 Jul 12, 2019 (153)
119 ALFA NC_000001.11 - 171254812 Apr 25, 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)
rs60633275 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
2664828, ss554841732, ss2762636502, ss3895487434 NC_000001.10:171223950:G:A NC_000001.11:171254811:G:A (self)
7497692461, ss2167486541, ss3095164543 NC_000001.11:171254811:G:A NC_000001.11:171254811:G:A (self)
ss84825505 NC_000001.8:167955608:G:C NC_000001.11:171254811:G:C (self)
25197, ss87867577, ss111334987, ss119087359, ss164408473, ss165427372, ss167272441, ss199237878, ss276099333, ss284174515, ss290662612, ss480945420, ss1397263992, ss1585194156, ss1712381198, ss3642803990 NC_000001.9:169490574:G:C NC_000001.11:171254811:G:C (self)
4204013, 2296912, 1625639, 1758304, 999885, 2664828, 875537, 1086531, 2266915, 582350, 4980039, 2296912, 494085, ss218714767, ss230779762, ss238417355, ss480965074, ss481931771, ss485267624, ss537235914, ss554841732, ss648495523, ss778342328, ss783079749, ss784037401, ss832338057, ss832983217, ss833796938, ss975807820, ss1068360868, ss1293395819, ss1426016725, ss1574473062, ss1601465441, ss1644459474, ss1751881216, ss1795262169, ss1919044601, ss1966897581, ss2020038574, ss2148065996, ss2330027452, ss2624528322, ss2632592439, ss2698043990, ss2762636502, ss2984885173, ss2985530649, ss2987943376, ss3343767664, ss3626239288, ss3630624165, ss3632915031, ss3633610608, ss3634358151, ss3635303950, ss3636037067, ss3637054457, ss3637795764, ss3640065505, ss3655887391, ss3727590672, ss3744659023, ss3746952830, ss3772160062, ss3783601561, ss3789227721, ss3794099778, ss3826487633, ss3836640607, ss3850249935, ss3895487434, ss5147010732 NC_000001.10:171223950:G:C NC_000001.11:171254811:G:C (self)
22599909, 36001493, 7497692461, ss2167486541, ss3023777985, ss3095164544, ss3646818567, ss3688013144, ss3799954860, ss3842050581, ss4472395158 NC_000001.11:171254811:G:C NC_000001.11:171254811:G:C (self)
ss5940451, ss23835684, ss32479682, ss43878329, ss66860791, ss68784612, ss75232718, ss99261392, ss102795951, ss119476867, ss138103513, ss154294838, ss159101927, ss159471746, ss160679336, ss173732763 NT_004487.19:22712592:G:C NC_000001.11:171254811: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.

2 citations for rs4433435
PMID Title Author Year Journal
21540762 Common polymorphisms in FMO1 are associated with nicotine dependence. Hinrichs AL et al. 2011 Pharmacogenetics and genomics
22824134 Polymorphism in glutamate cysteine ligase catalytic subunit (GCLC) is associated with sulfamethoxazole-induced hypersensitivity in HIV/AIDS patients. Wang D et al. 2012 BMC medical genomics
Help

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