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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.

rs742230

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:24924933 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.464494 (122947/264690, TOPMED)
G=0.439977 (80939/183962, ALFA)
G=0.471722 (65993/139898, GnomAD) (+ 17 more)
G=0.46717 (36765/78698, PAGE_STUDY)
G=0.43813 (7343/16760, 8.3KJPN)
G=0.4517 (2262/5008, 1000G)
A=0.4951 (2218/4480, Estonian)
G=0.4245 (1636/3854, ALSPAC)
G=0.4161 (1543/3708, TWINSUK)
A=0.4891 (1433/2930, KOREAN)
G=0.4798 (903/1882, HapMap)
G=0.4984 (913/1832, Korea1K)
G=0.437 (436/998, GoNL)
A=0.412 (313/760, PRJEB37584)
G=0.460 (276/600, NorthernSweden)
G=0.337 (128/380, SGDP_PRJ)
G=0.481 (104/216, Qatari)
G=0.433 (91/210, Vietnamese)
G=0.35 (16/46, Siberian)
G=0.33 (13/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RUNX3 : Intron Variant
LOC107984932 : Non Coding Transcript Variant
Publications
1 citation
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.24924933G>A
GRCh37.p13 chr 1 NC_000001.10:g.25251424G>A
Gene: RUNX3, RUNX family transcription factor 3 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RUNX3 transcript variant 1 NM_001031680.2:c.481+2641…

NM_001031680.2:c.481+2641C>T

N/A Intron Variant
RUNX3 transcript variant 3 NM_001320672.1:c.481+2641…

NM_001320672.1:c.481+2641C>T

N/A Intron Variant
RUNX3 transcript variant 2 NM_004350.3:c.439+2641C>T N/A Intron Variant
RUNX3 transcript variant X1 XM_005246024.4:c.481+2641…

XM_005246024.4:c.481+2641C>T

N/A Intron Variant
RUNX3 transcript variant X2 XM_011542351.1:c.481+2641…

XM_011542351.1:c.481+2641C>T

N/A Intron Variant
Gene: LOC107984932, uncharacterized LOC107984932 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC107984932 transcript XR_001737942.1:n.605G>A 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
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 183962 G=0.439977 A=0.560023
European Sub 161290 G=0.437181 A=0.562819
African Sub 7168 G=0.5297 A=0.4703
African Others Sub 244 G=0.520 A=0.480
African American Sub 6924 G=0.5300 A=0.4700
Asian Sub 708 G=0.473 A=0.527
East Asian Sub 576 G=0.484 A=0.516
Other Asian Sub 132 G=0.424 A=0.576
Latin American 1 Sub 752 G=0.515 A=0.485
Latin American 2 Sub 6322 G=0.3667 A=0.6333
South Asian Sub 190 G=0.426 A=0.574
Other Sub 7532 G=0.4657 A=0.5343


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=0.464494 A=0.535506
gnomAD - Genomes Global Study-wide 139898 G=0.471722 A=0.528278
gnomAD - Genomes European Sub 75796 G=0.44067 A=0.55933
gnomAD - Genomes African Sub 41882 G=0.53732 A=0.46268
gnomAD - Genomes American Sub 13634 G=0.44242 A=0.55758
gnomAD - Genomes Ashkenazi Jewish Sub 3318 G=0.4602 A=0.5398
gnomAD - Genomes East Asian Sub 3126 G=0.5016 A=0.4984
gnomAD - Genomes Other Sub 2142 G=0.4486 A=0.5514
The PAGE Study Global Study-wide 78698 G=0.46717 A=0.53283
The PAGE Study AfricanAmerican Sub 32514 G=0.52783 A=0.47217
The PAGE Study Mexican Sub 10810 G=0.36512 A=0.63488
The PAGE Study Asian Sub 8318 G=0.4564 A=0.5436
The PAGE Study PuertoRican Sub 7918 G=0.4422 A=0.5578
The PAGE Study NativeHawaiian Sub 4534 G=0.4457 A=0.5543
The PAGE Study Cuban Sub 4228 G=0.4208 A=0.5792
The PAGE Study Dominican Sub 3828 G=0.4587 A=0.5413
The PAGE Study CentralAmerican Sub 2450 G=0.4506 A=0.5494
The PAGE Study SouthAmerican Sub 1982 G=0.4062 A=0.5938
The PAGE Study NativeAmerican Sub 1260 G=0.4341 A=0.5659
The PAGE Study SouthAsian Sub 856 G=0.405 A=0.595
8.3KJPN JAPANESE Study-wide 16760 G=0.43813 A=0.56187
1000Genomes Global Study-wide 5008 G=0.4517 A=0.5483
1000Genomes African Sub 1322 G=0.5431 A=0.4569
1000Genomes East Asian Sub 1008 G=0.4484 A=0.5516
1000Genomes Europe Sub 1006 G=0.4175 A=0.5825
1000Genomes South Asian Sub 978 G=0.392 A=0.608
1000Genomes American Sub 694 G=0.416 A=0.584
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.5049 A=0.4951
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.4245 A=0.5755
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.4161 A=0.5839
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.5109 A=0.4891
HapMap Global Study-wide 1882 G=0.4798 A=0.5202
HapMap American Sub 764 G=0.427 A=0.573
HapMap African Sub 688 G=0.561 A=0.439
HapMap Asian Sub 254 G=0.484 A=0.516
HapMap Europe Sub 176 G=0.386 A=0.614
Korean Genome Project KOREAN Study-wide 1832 G=0.4984 A=0.5016
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.437 A=0.563
CNV burdens in cranial meningiomas Global Study-wide 760 G=0.588 A=0.412
CNV burdens in cranial meningiomas CRM Sub 760 G=0.588 A=0.412
Northern Sweden ACPOP Study-wide 600 G=0.460 A=0.540
SGDP_PRJ Global Study-wide 380 G=0.337 A=0.663
Qatari Global Study-wide 216 G=0.481 A=0.519
A Vietnamese Genetic Variation Database Global Study-wide 210 G=0.433 A=0.567
Siberian Global Study-wide 46 G=0.35 A=0.65
The Danish reference pan genome Danish Study-wide 40 G=0.33 A=0.68
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
GRCh38.p13 chr 1 NC_000001.11:g.24924933= NC_000001.11:g.24924933G>A
GRCh37.p13 chr 1 NC_000001.10:g.25251424= NC_000001.10:g.25251424G>A
LOC107984932 transcript XR_001737942.1:n.605= XR_001737942.1:n.605G>A
RUNX3 transcript variant 1 NM_001031680.2:c.481+2641= NM_001031680.2:c.481+2641C>T
RUNX3 transcript variant 3 NM_001320672.1:c.481+2641= NM_001320672.1:c.481+2641C>T
RUNX3 transcript variant 2 NM_004350.2:c.439+2641= NM_004350.2:c.439+2641C>T
RUNX3 transcript variant 2 NM_004350.3:c.439+2641= NM_004350.3:c.439+2641C>T
RUNX3 transcript variant X1 XM_005246024.1:c.481+2641= XM_005246024.1:c.481+2641C>T
RUNX3 transcript variant X1 XM_005246024.4:c.481+2641= XM_005246024.4:c.481+2641C>T
RUNX3 transcript variant X2 XM_011542351.1:c.481+2641= XM_011542351.1:c.481+2641C>T
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#.

117 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss91003 Oct 05, 2000 (86)
2 YUSUKE ss3221869 Sep 28, 2001 (100)
3 TSC-CSHL ss5493646 Oct 08, 2002 (108)
4 SC_JCM ss6078278 Feb 20, 2003 (111)
5 CSHL-HAPMAP ss16448163 Feb 27, 2004 (120)
6 CSHL-HAPMAP ss19143747 Feb 27, 2004 (120)
7 SSAHASNP ss20478344 Apr 05, 2004 (121)
8 PERLEGEN ss23836599 Sep 20, 2004 (123)
9 ABI ss44054762 Mar 13, 2006 (126)
10 ILLUMINA ss65719882 Oct 15, 2006 (127)
11 PERLEGEN ss68761688 May 17, 2007 (127)
12 ILLUMINA ss74866389 Dec 06, 2007 (129)
13 HGSV ss78093362 Dec 06, 2007 (129)
14 BCMHGSC_JDW ss87309214 Mar 23, 2008 (129)
15 HUMANGENOME_JCVI ss97926327 Feb 03, 2009 (130)
16 BGI ss102728905 Dec 01, 2009 (131)
17 1000GENOMES ss108070274 Jan 22, 2009 (130)
18 1000GENOMES ss110199046 Jan 24, 2009 (130)
19 ILLUMINA-UK ss118570717 Feb 14, 2009 (130)
20 KRIBB_YJKIM ss119365821 Dec 01, 2009 (131)
21 ILLUMINA ss120244571 Dec 01, 2009 (131)
22 ENSEMBL ss137850543 Dec 01, 2009 (131)
23 ENSEMBL ss138991184 Dec 01, 2009 (131)
24 GMI ss154785765 Dec 01, 2009 (131)
25 ILLUMINA ss160878536 Dec 01, 2009 (131)
26 COMPLETE_GENOMICS ss163196432 Jul 04, 2010 (132)
27 COMPLETE_GENOMICS ss163994588 Jul 04, 2010 (132)
28 ILLUMINA ss174367973 Jul 04, 2010 (132)
29 BUSHMAN ss198186141 Jul 04, 2010 (132)
30 1000GENOMES ss218288261 Jul 14, 2010 (132)
31 1000GENOMES ss230465992 Jul 14, 2010 (132)
32 1000GENOMES ss238172734 Jul 15, 2010 (132)
33 ILLUMINA ss244255261 Jul 04, 2010 (132)
34 BL ss252991779 May 09, 2011 (134)
35 GMI ss275757190 May 04, 2012 (137)
36 GMI ss284020988 Apr 25, 2013 (138)
37 PJP ss290792477 May 09, 2011 (134)
38 ILLUMINA ss481563034 May 04, 2012 (137)
39 ILLUMINA ss481592579 May 04, 2012 (137)
40 ILLUMINA ss482564621 Sep 08, 2015 (146)
41 ILLUMINA ss485576515 May 04, 2012 (137)
42 ILLUMINA ss537470659 Sep 08, 2015 (146)
43 TISHKOFF ss553903589 Apr 25, 2013 (138)
44 SSMP ss647646577 Apr 25, 2013 (138)
45 ILLUMINA ss778974320 Sep 08, 2015 (146)
46 ILLUMINA ss783233832 Sep 08, 2015 (146)
47 ILLUMINA ss784187898 Sep 08, 2015 (146)
48 ILLUMINA ss832494291 Sep 08, 2015 (146)
49 ILLUMINA ss834436410 Sep 08, 2015 (146)
50 EVA-GONL ss974957391 Aug 21, 2014 (142)
51 JMKIDD_LAB ss1067742324 Aug 21, 2014 (142)
52 1000GENOMES ss1290077840 Aug 21, 2014 (142)
53 DDI ss1425749387 Apr 01, 2015 (144)
54 EVA_GENOME_DK ss1573947569 Apr 01, 2015 (144)
55 EVA_DECODE ss1584316352 Apr 01, 2015 (144)
56 EVA_UK10K_ALSPAC ss1599748818 Apr 01, 2015 (144)
57 EVA_UK10K_TWINSUK ss1642742851 Apr 01, 2015 (144)
58 EVA_SVP ss1712318725 Apr 01, 2015 (144)
59 ILLUMINA ss1751912679 Sep 08, 2015 (146)
60 HAMMER_LAB ss1794077636 Sep 08, 2015 (146)
61 WEILL_CORNELL_DGM ss1918169042 Feb 12, 2016 (147)
62 ILLUMINA ss1945988548 Feb 12, 2016 (147)
63 ILLUMINA ss1958254037 Feb 12, 2016 (147)
64 GENOMED ss1966707257 Jul 19, 2016 (147)
65 JJLAB ss2019596677 Sep 14, 2016 (149)
66 ILLUMINA ss2094842123 Dec 20, 2016 (150)
67 ILLUMINA ss2094956053 Dec 20, 2016 (150)
68 USC_VALOUEV ss2147602739 Dec 20, 2016 (150)
69 HUMAN_LONGEVITY ss2160815056 Dec 20, 2016 (150)
70 TOPMED ss2323000576 Dec 20, 2016 (150)
71 SYSTEMSBIOZJU ss2624315301 Nov 08, 2017 (151)
72 ILLUMINA ss2632491449 Nov 08, 2017 (151)
73 GRF ss2697508200 Nov 08, 2017 (151)
74 ILLUMINA ss2710668146 Nov 08, 2017 (151)
75 GNOMAD ss2752791123 Nov 08, 2017 (151)
76 SWEGEN ss2986484471 Nov 08, 2017 (151)
77 ILLUMINA ss3021067668 Nov 08, 2017 (151)
78 BIOINF_KMB_FNS_UNIBA ss3023564153 Nov 08, 2017 (151)
79 TOPMED ss3071222723 Nov 08, 2017 (151)
80 CSHL ss3343372363 Nov 08, 2017 (151)
81 ILLUMINA ss3625528729 Oct 11, 2018 (152)
82 ILLUMINA ss3626051119 Oct 11, 2018 (152)
83 ILLUMINA ss3630528880 Oct 11, 2018 (152)
84 ILLUMINA ss3632884697 Oct 11, 2018 (152)
85 ILLUMINA ss3633578807 Oct 11, 2018 (152)
86 ILLUMINA ss3634313322 Oct 11, 2018 (152)
87 ILLUMINA ss3635272832 Oct 11, 2018 (152)
88 ILLUMINA ss3635989413 Oct 11, 2018 (152)
89 ILLUMINA ss3637023213 Oct 11, 2018 (152)
90 ILLUMINA ss3637743767 Oct 11, 2018 (152)
91 ILLUMINA ss3640020686 Oct 11, 2018 (152)
92 ILLUMINA ss3641270556 Oct 11, 2018 (152)
93 ILLUMINA ss3642757031 Oct 11, 2018 (152)
94 ILLUMINA ss3644484415 Oct 11, 2018 (152)
95 URBANLAB ss3646625677 Oct 11, 2018 (152)
96 ILLUMINA ss3651392948 Oct 11, 2018 (152)
97 ILLUMINA ss3651392949 Oct 11, 2018 (152)
98 EGCUT_WGS ss3654550958 Jul 12, 2019 (153)
99 EVA_DECODE ss3686369784 Jul 12, 2019 (153)
100 ILLUMINA ss3725006976 Jul 12, 2019 (153)
101 ACPOP ss3726878598 Jul 12, 2019 (153)
102 ILLUMINA ss3744043490 Jul 12, 2019 (153)
103 ILLUMINA ss3744614278 Jul 12, 2019 (153)
104 EVA ss3745953553 Jul 12, 2019 (153)
105 PAGE_CC ss3770794109 Jul 12, 2019 (153)
106 ILLUMINA ss3772115831 Jul 12, 2019 (153)
107 KHV_HUMAN_GENOMES ss3798973780 Jul 12, 2019 (153)
108 EVA ss3826077152 Apr 25, 2020 (154)
109 EVA ss3836426626 Apr 25, 2020 (154)
110 EVA ss3841831402 Apr 25, 2020 (154)
111 SGDP_PRJ ss3848431999 Apr 25, 2020 (154)
112 KRGDB ss3893351456 Apr 25, 2020 (154)
113 KOGIC ss3944060293 Apr 25, 2020 (154)
114 EVA ss3984454014 Apr 25, 2021 (155)
115 EVA ss4016898875 Apr 25, 2021 (155)
116 TOPMED ss4442514360 Apr 25, 2021 (155)
117 TOMMO_GENOMICS ss5142982631 Apr 25, 2021 (155)
118 1000Genomes NC_000001.10 - 25251424 Oct 11, 2018 (152)
119 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 25251424 Oct 11, 2018 (152)
120 Genetic variation in the Estonian population NC_000001.10 - 25251424 Oct 11, 2018 (152)
121 The Danish reference pan genome NC_000001.10 - 25251424 Apr 25, 2020 (154)
122 gnomAD - Genomes NC_000001.11 - 24924933 Apr 25, 2021 (155)
123 Genome of the Netherlands Release 5 NC_000001.10 - 25251424 Apr 25, 2020 (154)
124 HapMap NC_000001.11 - 24924933 Apr 25, 2020 (154)
125 KOREAN population from KRGDB NC_000001.10 - 25251424 Apr 25, 2020 (154)
126 Korean Genome Project NC_000001.11 - 24924933 Apr 25, 2020 (154)
127 Northern Sweden NC_000001.10 - 25251424 Jul 12, 2019 (153)
128 The PAGE Study NC_000001.11 - 24924933 Jul 12, 2019 (153)
129 CNV burdens in cranial meningiomas NC_000001.10 - 25251424 Apr 25, 2021 (155)
130 Qatari NC_000001.10 - 25251424 Apr 25, 2020 (154)
131 SGDP_PRJ NC_000001.10 - 25251424 Apr 25, 2020 (154)
132 Siberian NC_000001.10 - 25251424 Apr 25, 2020 (154)
133 8.3KJPN NC_000001.10 - 25251424 Apr 25, 2021 (155)
134 TopMed NC_000001.11 - 24924933 Apr 25, 2021 (155)
135 UK 10K study - Twins NC_000001.10 - 25251424 Oct 11, 2018 (152)
136 A Vietnamese Genetic Variation Database NC_000001.10 - 25251424 Jul 12, 2019 (153)
137 ALFA NC_000001.11 - 24924933 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)
rs16830168 Oct 07, 2004 (123)
rs386610031 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78093362 NC_000001.8:24996729:G:A NC_000001.11:24924932:G:A (self)
ss87309214, ss108070274, ss110199046, ss118570717, ss163196432, ss163994588, ss198186141, ss252991779, ss275757190, ss284020988, ss290792477, ss481563034, ss1584316352, ss1712318725, ss2094842123, ss3642757031 NC_000001.9:25124010:G:A NC_000001.11:24924932:G:A (self)
767474, 408383, 289206, 1429986, 177000, 528850, 163463, 3316, 210972, 448979, 119093, 951938, 408383, 86085, ss218288261, ss230465992, ss238172734, ss481592579, ss482564621, ss485576515, ss537470659, ss553903589, ss647646577, ss778974320, ss783233832, ss784187898, ss832494291, ss834436410, ss974957391, ss1067742324, ss1290077840, ss1425749387, ss1573947569, ss1599748818, ss1642742851, ss1751912679, ss1794077636, ss1918169042, ss1945988548, ss1958254037, ss1966707257, ss2019596677, ss2094956053, ss2147602739, ss2323000576, ss2624315301, ss2632491449, ss2697508200, ss2710668146, ss2752791123, ss2986484471, ss3021067668, ss3343372363, ss3625528729, ss3626051119, ss3630528880, ss3632884697, ss3633578807, ss3634313322, ss3635272832, ss3635989413, ss3637023213, ss3637743767, ss3640020686, ss3641270556, ss3644484415, ss3651392948, ss3651392949, ss3654550958, ss3726878598, ss3744043490, ss3744614278, ss3745953553, ss3772115831, ss3826077152, ss3836426626, ss3848431999, ss3893351456, ss3984454014, ss4016898875, ss5142982631 NC_000001.10:25251423:G:A NC_000001.11:24924932:G:A (self)
5370973, 32019, 438294, 15578, 3849352, 6120695, 5193586084, ss2160815056, ss3023564153, ss3071222723, ss3646625677, ss3686369784, ss3725006976, ss3770794109, ss3798973780, ss3841831402, ss3944060293, ss4442514360 NC_000001.11:24924932:G:A NC_000001.11:24924932:G:A (self)
ss91003, ss3221869, ss5493646, ss6078278, ss23836599, ss44054762, ss65719882, ss68761688, ss74866389, ss97926327, ss102728905, ss119365821, ss120244571, ss137850543, ss138991184, ss154785765, ss160878536, ss174367973, ss244255261 NT_004610.19:11931511:G:A NC_000001.11:24924932:G:A (self)
ss16448163, ss19143747, ss20478344 NT_077383.3:887648:G:A NC_000001.11:24924932:G:A (self)
Help

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

1 citation for rs742230
PMID Title Author Year Journal
21242547 Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene. Arnett J et al. 2011 Archives of otolaryngology--head & neck surgery
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