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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.

rs3733542

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr4:54736599 (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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.173671 (45969/264690, TOPMED)
C=0.107806 (27099/251368, GnomAD_exome)
C=0.167552 (23478/140124, GnomAD) (+ 21 more)
C=0.115862 (14061/121360, ExAC)
C=0.12185 (6036/49536, ALFA)
C=0.04726 (792/16760, 8.3KJPN)
C=0.19306 (2511/13006, GO-ESP)
C=0.1641 (822/5008, 1000G)
C=0.0779 (349/4480, Estonian)
C=0.1108 (427/3854, ALSPAC)
C=0.1254 (465/3708, TWINSUK)
C=0.0394 (115/2922, KOREAN)
C=0.0333 (61/1832, Korea1K)
C=0.097 (97/998, GoNL)
C=0.054 (33/614, Vietnamese)
C=0.087 (52/600, NorthernSweden)
C=0.112 (60/534, MGP)
C=0.180 (58/322, HapMap)
C=0.066 (20/304, FINRISK)
C=0.088 (19/216, Qatari)
G=0.419 (52/124, SGDP_PRJ)
C=0.07 (3/40, GENOME_DK)
G=0.5 (1/2, Siberian)
C=0.5 (1/2, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
KIT : Synonymous 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 4 NC_000004.12:g.54736599G>C
GRCh37.p13 chr 4 NC_000004.11:g.55602765G>C
KIT RefSeqGene (LRG_307) NG_007456.1:g.83605G>C
Gene: KIT, KIT proto-oncogene, receptor tyrosine kinase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
KIT transcript variant 1 NM_000222.3:c.2586G>C L [CTG] > L [CTC] Coding Sequence Variant
mast/stem cell growth factor receptor Kit isoform 1 precursor NP_000213.1:p.Leu862= L (Leu) > L (Leu) Synonymous Variant
KIT transcript variant 7 NM_001385290.1:c.2586G>C L [CTG] > L [CTC] Coding Sequence Variant
mast/stem cell growth factor receptor Kit isoform 7 precursor NP_001372219.1:p.Leu862= L (Leu) > L (Leu) Synonymous Variant
KIT transcript variant 4 NM_001385285.1:c.2583G>C L [CTG] > L [CTC] Coding Sequence Variant
mast/stem cell growth factor receptor Kit isoform 4 precursor NP_001372214.1:p.Leu861= L (Leu) > L (Leu) Synonymous Variant
KIT transcript variant 3 NM_001385284.1:c.2589G>C L [CTG] > L [CTC] Coding Sequence Variant
mast/stem cell growth factor receptor Kit isoform 3 precursor NP_001372213.1:p.Leu863= L (Leu) > L (Leu) Synonymous Variant
KIT transcript variant 2 NM_001093772.2:c.2574G>C L [CTG] > L [CTC] Coding Sequence Variant
mast/stem cell growth factor receptor Kit isoform 2 precursor NP_001087241.1:p.Leu858= L (Leu) > L (Leu) Synonymous Variant
KIT transcript variant 6 NM_001385288.1:c.2577G>C L [CTG] > L [CTC] Coding Sequence Variant
mast/stem cell growth factor receptor Kit isoform 6 precursor NP_001372217.1:p.Leu859= L (Leu) > L (Leu) Synonymous Variant
KIT transcript variant 8 NM_001385292.1:c.2574G>C L [CTG] > L [CTC] Coding Sequence Variant
mast/stem cell growth factor receptor Kit isoform 8 precursor NP_001372221.1:p.Leu858= L (Leu) > L (Leu) Synonymous Variant
KIT transcript variant 5 NM_001385286.1:c.2571G>C L [CTG] > L [CTC] Coding Sequence Variant
mast/stem cell growth factor receptor Kit isoform 5 precursor NP_001372215.1:p.Leu857= L (Leu) > L (Leu) Synonymous 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: C (allele ID: 251505 )
ClinVar Accession Disease Names Clinical Significance
RCV000252976.1 not specified Benign
RCV000312417.2 Partial albinism Likely-Benign
RCV000348774.2 Gastrointestinal stromal tumor Likely-Benign
RCV000391480.2 Mastocytosis Likely-Benign
RCV001016021.1 Hereditary cancer-predisposing syndrome Benign

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 49536 G=0.87815 C=0.12185
European Sub 37428 G=0.89412 C=0.10588
African Sub 3604 G=0.6920 C=0.3080
African Others Sub 122 G=0.607 C=0.393
African American Sub 3482 G=0.6950 C=0.3050
Asian Sub 170 G=0.953 C=0.047
East Asian Sub 114 G=0.947 C=0.053
Other Asian Sub 56 G=0.96 C=0.04
Latin American 1 Sub 504 G=0.813 C=0.187
Latin American 2 Sub 644 G=0.918 C=0.082
South Asian Sub 98 G=0.89 C=0.11
Other Sub 7088 G=0.8876 C=0.1124


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=0.826329 C=0.173671
gnomAD - Exomes Global Study-wide 251368 G=0.892194 C=0.107806
gnomAD - Exomes European Sub 135322 G=0.899070 C=0.100930
gnomAD - Exomes Asian Sub 49002 G=0.91502 C=0.08498
gnomAD - Exomes American Sub 34588 G=0.93804 C=0.06196
gnomAD - Exomes African Sub 16250 G=0.66418 C=0.33582
gnomAD - Exomes Ashkenazi Jewish Sub 10076 G=0.89738 C=0.10262
gnomAD - Exomes Other Sub 6130 G=0.8951 C=0.1049
gnomAD - Genomes Global Study-wide 140124 G=0.832448 C=0.167552
gnomAD - Genomes European Sub 75922 G=0.89847 C=0.10153
gnomAD - Genomes African Sub 41946 G=0.67413 C=0.32587
gnomAD - Genomes American Sub 13650 G=0.90462 C=0.09538
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.9025 C=0.0975
gnomAD - Genomes East Asian Sub 3128 G=0.9473 C=0.0527
gnomAD - Genomes Other Sub 2154 G=0.8561 C=0.1439
ExAC Global Study-wide 121360 G=0.884138 C=0.115862
ExAC Europe Sub 73324 G=0.89560 C=0.10440
ExAC Asian Sub 25156 G=0.91286 C=0.08714
ExAC American Sub 11568 G=0.94545 C=0.05455
ExAC African Sub 10406 G=0.66433 C=0.33567
ExAC Other Sub 906 G=0.901 C=0.099
8.3KJPN JAPANESE Study-wide 16760 G=0.95274 C=0.04726
GO Exome Sequencing Project Global Study-wide 13006 G=0.80694 C=0.19306
GO Exome Sequencing Project European American Sub 8600 G=0.8747 C=0.1253
GO Exome Sequencing Project African American Sub 4406 G=0.6748 C=0.3252
1000Genomes Global Study-wide 5008 G=0.8359 C=0.1641
1000Genomes African Sub 1322 G=0.6241 C=0.3759
1000Genomes East Asian Sub 1008 G=0.9435 C=0.0565
1000Genomes Europe Sub 1006 G=0.9046 C=0.0954
1000Genomes South Asian Sub 978 G=0.880 C=0.120
1000Genomes American Sub 694 G=0.921 C=0.079
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9221 C=0.0779
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.8892 C=0.1108
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.8746 C=0.1254
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9606 C=0.0394
Korean Genome Project KOREAN Study-wide 1832 G=0.9667 C=0.0333
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.903 C=0.097
A Vietnamese Genetic Variation Database Global Study-wide 614 G=0.946 C=0.054
Northern Sweden ACPOP Study-wide 600 G=0.913 C=0.087
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.888 C=0.112
HapMap Global Study-wide 322 G=0.820 C=0.180
HapMap African Sub 118 G=0.678 C=0.322
HapMap American Sub 116 G=0.862 C=0.138
HapMap Asian Sub 88 G=0.95 C=0.05
FINRISK Finnish from FINRISK project Study-wide 304 G=0.934 C=0.066
Qatari Global Study-wide 216 G=0.912 C=0.088
SGDP_PRJ Global Study-wide 124 G=0.419 C=0.581
The Danish reference pan genome Danish Study-wide 40 G=0.93 C=0.07
Siberian Global Study-wide 2 G=0.5 C=0.5
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= C
GRCh38.p13 chr 4 NC_000004.12:g.54736599= NC_000004.12:g.54736599G>C
GRCh37.p13 chr 4 NC_000004.11:g.55602765= NC_000004.11:g.55602765G>C
KIT RefSeqGene (LRG_307) NG_007456.1:g.83605= NG_007456.1:g.83605G>C
KIT transcript variant 1 NM_000222.3:c.2586= NM_000222.3:c.2586G>C
KIT transcript variant 1 NM_000222.2:c.2586= NM_000222.2:c.2586G>C
KIT transcript variant 2 NM_001093772.2:c.2574= NM_001093772.2:c.2574G>C
KIT transcript variant 2 NM_001093772.1:c.2574= NM_001093772.1:c.2574G>C
KIT transcript variant 3 NM_001385284.1:c.2589= NM_001385284.1:c.2589G>C
KIT transcript variant 7 NM_001385290.1:c.2586= NM_001385290.1:c.2586G>C
KIT transcript variant 4 NM_001385285.1:c.2583= NM_001385285.1:c.2583G>C
KIT transcript variant 6 NM_001385288.1:c.2577= NM_001385288.1:c.2577G>C
KIT transcript variant 8 NM_001385292.1:c.2574= NM_001385292.1:c.2574G>C
KIT transcript variant 5 NM_001385286.1:c.2571= NM_001385286.1:c.2571G>C
mast/stem cell growth factor receptor Kit isoform 1 precursor NP_000213.1:p.Leu862= NP_000213.1:p.Leu862=
mast/stem cell growth factor receptor Kit isoform 2 precursor NP_001087241.1:p.Leu858= NP_001087241.1:p.Leu858=
mast/stem cell growth factor receptor Kit isoform 3 precursor NP_001372213.1:p.Leu863= NP_001372213.1:p.Leu863=
mast/stem cell growth factor receptor Kit isoform 7 precursor NP_001372219.1:p.Leu862= NP_001372219.1:p.Leu862=
mast/stem cell growth factor receptor Kit isoform 4 precursor NP_001372214.1:p.Leu861= NP_001372214.1:p.Leu861=
mast/stem cell growth factor receptor Kit isoform 6 precursor NP_001372217.1:p.Leu859= NP_001372217.1:p.Leu859=
mast/stem cell growth factor receptor Kit isoform 8 precursor NP_001372221.1:p.Leu858= NP_001372221.1:p.Leu858=
mast/stem cell growth factor receptor Kit isoform 5 precursor NP_001372215.1:p.Leu857= NP_001372215.1:p.Leu857=
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#.

87 SubSNP, 23 Frequency, 5 ClinVar submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss4919537 Aug 28, 2002 (107)
2 PERLEGEN ss23259315 Sep 20, 2004 (123)
3 ILLUMINA ss65727519 Oct 16, 2006 (127)
4 PERLEGEN ss68899083 May 18, 2007 (127)
5 SI_EXO ss71643942 May 18, 2007 (127)
6 CANCER-GENOME ss74802230 Dec 07, 2007 (129)
7 CGM_KYOTO ss76866087 Dec 07, 2007 (129)
8 BCMHGSC_JDW ss92584509 Mar 24, 2008 (129)
9 SNP500CANCER ss105437190 Feb 06, 2009 (130)
10 1000GENOMES ss113065297 Jan 25, 2009 (130)
11 ILLUMINA-UK ss116991120 Feb 14, 2009 (130)
12 ENSEMBL ss139613283 Dec 01, 2009 (131)
13 SEATTLESEQ ss159707631 Dec 01, 2009 (131)
14 COMPLETE_GENOMICS ss166579273 Jul 04, 2010 (132)
15 BUSHMAN ss198506958 Jul 04, 2010 (132)
16 1000GENOMES ss211407332 Jul 14, 2010 (132)
17 1000GENOMES ss220917382 Jul 14, 2010 (132)
18 1000GENOMES ss232386676 Jul 14, 2010 (132)
19 1000GENOMES ss239681111 Jul 15, 2010 (132)
20 PJP ss293069885 May 09, 2011 (134)
21 NHLBI-ESP ss342163526 May 09, 2011 (134)
22 ILLUMINA ss480129466 May 04, 2012 (137)
23 ILLUMINA ss484831853 May 04, 2012 (137)
24 1000GENOMES ss490887570 May 04, 2012 (137)
25 CLINSEQ_SNP ss491854293 May 04, 2012 (137)
26 ILLUMINA ss533562447 Sep 08, 2015 (146)
27 TISHKOFF ss557506978 Apr 25, 2013 (138)
28 SSMP ss651303325 Apr 25, 2013 (138)
29 ILLUMINA ss778656999 Sep 08, 2015 (146)
30 ILLUMINA ss781154166 Sep 08, 2015 (146)
31 ILLUMINA ss834114961 Sep 08, 2015 (146)
32 JMKIDD_LAB ss974452536 Aug 21, 2014 (142)
33 EVA-GONL ss980098241 Aug 21, 2014 (142)
34 JMKIDD_LAB ss1067461242 Aug 21, 2014 (142)
35 JMKIDD_LAB ss1071524797 Aug 21, 2014 (142)
36 1000GENOMES ss1309680923 Aug 21, 2014 (142)
37 EVA_GENOME_DK ss1580549167 Apr 01, 2015 (144)
38 EVA_FINRISK ss1584034287 Apr 01, 2015 (144)
39 EVA_DECODE ss1589595888 Apr 01, 2015 (144)
40 EVA_UK10K_ALSPAC ss1610058232 Apr 01, 2015 (144)
41 EVA_UK10K_TWINSUK ss1653052265 Apr 01, 2015 (144)
42 EVA_EXAC ss1687495369 Apr 01, 2015 (144)
43 EVA_MGP ss1711059773 Apr 01, 2015 (144)
44 HAMMER_LAB ss1801426625 Sep 08, 2015 (146)
45 WEILL_CORNELL_DGM ss1923337364 Feb 12, 2016 (147)
46 GENOMED ss1966658494 Feb 12, 2016 (147)
47 JJLAB ss2022252278 Sep 14, 2016 (149)
48 USC_VALOUEV ss2150377526 Dec 20, 2016 (150)
49 HUMAN_LONGEVITY ss2262838502 Dec 20, 2016 (150)
50 TOPMED ss2430488539 Dec 20, 2016 (150)
51 ILLUMINA ss2634118311 Nov 08, 2017 (151)
52 GRF ss2705842733 Nov 08, 2017 (151)
53 GNOMAD ss2734512707 Nov 08, 2017 (151)
54 GNOMAD ss2747238973 Nov 08, 2017 (151)
55 GNOMAD ss2809155427 Nov 08, 2017 (151)
56 SWEGEN ss2994678287 Nov 08, 2017 (151)
57 BIOINF_KMB_FNS_UNIBA ss3024897335 Nov 08, 2017 (151)
58 CSHL ss3345707357 Nov 08, 2017 (151)
59 TOPMED ss3428734309 Nov 08, 2017 (151)
60 ILLUMINA ss3628963572 Oct 12, 2018 (152)
61 ILLUMINA ss3632055104 Oct 12, 2018 (152)
62 OMUKHERJEE_ADBS ss3646307586 Oct 12, 2018 (152)
63 EGCUT_WGS ss3662563381 Jul 13, 2019 (153)
64 EVA_DECODE ss3712025777 Jul 13, 2019 (153)
65 ACPOP ss3731135596 Jul 13, 2019 (153)
66 EVA ss3761780715 Jul 13, 2019 (153)
67 PACBIO ss3784710136 Jul 13, 2019 (153)
68 PACBIO ss3790168379 Jul 13, 2019 (153)
69 PACBIO ss3795043490 Jul 13, 2019 (153)
70 KHV_HUMAN_GENOMES ss3804916025 Jul 13, 2019 (153)
71 EVA ss3824016395 Apr 26, 2020 (154)
72 EVA ss3825657268 Apr 26, 2020 (154)
73 EVA ss3828531342 Apr 26, 2020 (154)
74 EVA ss3837702930 Apr 26, 2020 (154)
75 EVA ss3843138994 Apr 26, 2020 (154)
76 SGDP_PRJ ss3858917414 Apr 26, 2020 (154)
77 KRGDB ss3905154753 Apr 26, 2020 (154)
78 KOGIC ss3954162795 Apr 26, 2020 (154)
79 FSA-LAB ss3984283435 Apr 26, 2021 (155)
80 FSA-LAB ss3984283436 Apr 26, 2021 (155)
81 EVA ss3986280015 Apr 26, 2021 (155)
82 TOPMED ss4613415021 Apr 26, 2021 (155)
83 TOMMO_GENOMICS ss5165657171 Apr 26, 2021 (155)
84 CPQ_GEN_INCA ss5236854809 Apr 26, 2021 (155)
85 CPQ_GEN_INCA ss5236860045 Apr 26, 2021 (155)
86 CPQ_GEN_INCA ss5236860046 Apr 26, 2021 (155)
87 EVA ss5237006376 Apr 26, 2021 (155)
88 1000Genomes NC_000004.11 - 55602765 Oct 12, 2018 (152)
89 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 55602765 Oct 12, 2018 (152)
90 Genetic variation in the Estonian population NC_000004.11 - 55602765 Oct 12, 2018 (152)
91 ExAC NC_000004.11 - 55602765 Oct 12, 2018 (152)
92 FINRISK NC_000004.11 - 55602765 Apr 26, 2020 (154)
93 The Danish reference pan genome NC_000004.11 - 55602765 Apr 26, 2020 (154)
94 gnomAD - Genomes NC_000004.12 - 54736599 Apr 26, 2021 (155)
95 gnomAD - Exomes NC_000004.11 - 55602765 Jul 13, 2019 (153)
96 GO Exome Sequencing Project NC_000004.11 - 55602765 Oct 12, 2018 (152)
97 Genome of the Netherlands Release 5 NC_000004.11 - 55602765 Apr 26, 2020 (154)
98 HapMap NC_000004.12 - 54736599 Apr 26, 2020 (154)
99 KOREAN population from KRGDB NC_000004.11 - 55602765 Apr 26, 2020 (154)
100 Korean Genome Project NC_000004.12 - 54736599 Apr 26, 2020 (154)
101 Medical Genome Project healthy controls from Spanish population NC_000004.11 - 55602765 Apr 26, 2020 (154)
102 Northern Sweden NC_000004.11 - 55602765 Jul 13, 2019 (153)
103 Qatari NC_000004.11 - 55602765 Apr 26, 2020 (154)
104 SGDP_PRJ NC_000004.11 - 55602765 Apr 26, 2020 (154)
105 Siberian NC_000004.11 - 55602765 Apr 26, 2020 (154)
106 8.3KJPN NC_000004.11 - 55602765 Apr 26, 2021 (155)
107 TopMed NC_000004.12 - 54736599 Apr 26, 2021 (155)
108 UK 10K study - Twins NC_000004.11 - 55602765 Oct 12, 2018 (152)
109 A Vietnamese Genetic Variation Database NC_000004.11 - 55602765 Jul 13, 2019 (153)
110 ALFA NC_000004.12 - 54736599 Apr 26, 2021 (155)
111 ClinVar RCV000252976.1 Oct 12, 2018 (152)
112 ClinVar RCV000312417.2 Apr 26, 2021 (155)
113 ClinVar RCV000348774.2 Apr 26, 2021 (155)
114 ClinVar RCV000391480.2 Apr 26, 2021 (155)
115 ClinVar RCV001016021.1 Apr 26, 2020 (154)
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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss92584509, ss113065297, ss116991120, ss166579273, ss198506958, ss211407332, ss293069885, ss484831853, ss491854293, ss1589595888 NC_000004.10:55297521:G:C NC_000004.12:54736598:G:C (self)
21074055, 11728749, 8301629, 7459659, 30748, 6714106, 3615840, 474620, 5170786, 12332147, 175533, 4420461, 5379294, 10934394, 2893880, 23626478, 11728749, 2575380, ss220917382, ss232386676, ss239681111, ss342163526, ss480129466, ss490887570, ss533562447, ss557506978, ss651303325, ss778656999, ss781154166, ss834114961, ss974452536, ss980098241, ss1067461242, ss1071524797, ss1309680923, ss1580549167, ss1584034287, ss1610058232, ss1653052265, ss1687495369, ss1711059773, ss1801426625, ss1923337364, ss1966658494, ss2022252278, ss2150377526, ss2430488539, ss2634118311, ss2705842733, ss2734512707, ss2747238973, ss2809155427, ss2994678287, ss3345707357, ss3628963572, ss3632055104, ss3646307586, ss3662563381, ss3731135596, ss3761780715, ss3784710136, ss3790168379, ss3795043490, ss3824016395, ss3825657268, ss3828531342, ss3837702930, ss3858917414, ss3905154753, ss3984283435, ss3984283436, ss3986280015, ss5165657171, ss5236854809, ss5236860045, ss5236860046 NC_000004.11:55602764:G:C NC_000004.12:54736598:G:C (self)
RCV000252976.1, RCV000312417.2, RCV000348774.2, RCV000391480.2, RCV001016021.1, 149382657, 2613151, 10540796, 281766288, 450792577, 5255383307, ss2262838502, ss3024897335, ss3428734309, ss3712025777, ss3804916025, ss3843138994, ss3954162795, ss4613415021, ss5237006376 NC_000004.12:54736598:G:C NC_000004.12:54736598:G:C (self)
ss4919537, ss23259315, ss65727519, ss68899083, ss71643942, ss74802230, ss76866087, ss105437190, ss139613283, ss159707631 NT_022853.15:2942647:G:C NC_000004.12:54736598: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 rs3733542
PMID Title Author Year Journal
20843204 MicroRNA binding site polymorphisms as biomarkers of cancer risk. Pelletier C et al. 2010 Expert review of molecular diagnostics
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
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