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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.

rs45598239

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr21:42388983 (GRCh38.p14) 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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.030953 (8193/264690, TOPMED)
T=0.031779 (7990/251426, GnomAD_exome)
T=0.048487 (10541/217400, ALFA) (+ 20 more)
T=0.033524 (4702/140258, GnomAD)
T=0.032999 (4002/121276, ExAC)
T=0.01427 (1123/78694, PAGE_STUDY)
T=0.00004 (1/28258, 14KJPN)
T=0.00006 (1/16760, 8.3KJPN)
T=0.03498 (455/13006, GO-ESP)
T=0.0101 (65/6404, 1000G_30x)
T=0.0102 (51/5008, 1000G)
T=0.0761 (341/4480, Estonian)
T=0.0516 (199/3854, ALSPAC)
T=0.0518 (192/3708, TWINSUK)
T=0.0005 (1/1832, Korea1K)
T=0.050 (50/998, GoNL)
T=0.035 (21/600, NorthernSweden)
T=0.030 (16/534, MGP)
T=0.036 (11/304, FINRISK)
T=0.05 (2/40, GENOME_DK)
C=0.50 (6/12, Siberian)
T=0.50 (6/12, Siberian)
C=0.4 (4/10, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
TMPRSS3 : Missense Variant
Publications
3 citations
Genomic View
See rs on genome

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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 233760 C=0.952088 T=0.047912
European Sub 196568 C=0.947209 T=0.052791
African Sub 10012 C=0.99041 T=0.00959
African Others Sub 370 C=1.000 T=0.000
African American Sub 9642 C=0.9900 T=0.0100
Asian Sub 6366 C=1.0000 T=0.0000
East Asian Sub 4516 C=1.0000 T=0.0000
Other Asian Sub 1850 C=1.0000 T=0.0000
Latin American 1 Sub 816 C=0.980 T=0.020
Latin American 2 Sub 1056 C=0.9782 T=0.0218
South Asian Sub 296 C=0.997 T=0.003
Other Sub 18646 C=0.96316 T=0.03684


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 C=0.969047 T=0.030953
gnomAD - Exomes Global Study-wide 251426 C=0.968221 T=0.031779
gnomAD - Exomes European Sub 135362 C=0.950208 T=0.049792
gnomAD - Exomes Asian Sub 49002 C=0.99635 T=0.00365
gnomAD - Exomes American Sub 34592 C=0.98526 T=0.01474
gnomAD - Exomes African Sub 16256 C=0.99163 T=0.00837
gnomAD - Exomes Ashkenazi Jewish Sub 10080 C=0.97569 T=0.02431
gnomAD - Exomes Other Sub 6134 C=0.9707 T=0.0293
Allele Frequency Aggregator Total Global 217400 C=0.951513 T=0.048487
Allele Frequency Aggregator European Sub 186492 C=0.947311 T=0.052689
Allele Frequency Aggregator Other Sub 17198 C=0.96418 T=0.03582
Allele Frequency Aggregator Asian Sub 6366 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 5176 C=0.9886 T=0.0114
Allele Frequency Aggregator Latin American 2 Sub 1056 C=0.9782 T=0.0218
Allele Frequency Aggregator Latin American 1 Sub 816 C=0.980 T=0.020
Allele Frequency Aggregator South Asian Sub 296 C=0.997 T=0.003
gnomAD - Genomes Global Study-wide 140258 C=0.966476 T=0.033524
gnomAD - Genomes European Sub 75956 C=0.94796 T=0.05204
gnomAD - Genomes African Sub 42048 C=0.99189 T=0.00811
gnomAD - Genomes American Sub 13654 C=0.98169 T=0.01831
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.9705 T=0.0295
gnomAD - Genomes East Asian Sub 3132 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2146 C=0.9720 T=0.0280
ExAC Global Study-wide 121276 C=0.967001 T=0.032999
ExAC Europe Sub 73254 C=0.94997 T=0.05003
ExAC Asian Sub 25160 C=0.99618 T=0.00382
ExAC American Sub 11562 C=0.98746 T=0.01254
ExAC African Sub 10394 C=0.99269 T=0.00731
ExAC Other Sub 906 C=0.978 T=0.022
The PAGE Study Global Study-wide 78694 C=0.98573 T=0.01427
The PAGE Study AfricanAmerican Sub 32512 C=0.98905 T=0.01095
The PAGE Study Mexican Sub 10810 C=0.98067 T=0.01933
The PAGE Study Asian Sub 8316 C=0.9998 T=0.0002
The PAGE Study PuertoRican Sub 7918 C=0.9880 T=0.0120
The PAGE Study NativeHawaiian Sub 4534 C=0.9832 T=0.0168
The PAGE Study Cuban Sub 4230 C=0.9643 T=0.0357
The PAGE Study Dominican Sub 3828 C=0.9799 T=0.0201
The PAGE Study CentralAmerican Sub 2448 C=0.9824 T=0.0176
The PAGE Study SouthAmerican Sub 1982 C=0.9788 T=0.0212
The PAGE Study NativeAmerican Sub 1260 C=0.9476 T=0.0524
The PAGE Study SouthAsian Sub 856 C=0.993 T=0.007
14KJPN JAPANESE Study-wide 28258 C=0.99996 T=0.00004
8.3KJPN JAPANESE Study-wide 16760 C=0.99994 T=0.00006
GO Exome Sequencing Project Global Study-wide 13006 C=0.96502 T=0.03498
GO Exome Sequencing Project European American Sub 8600 C=0.9517 T=0.0483
GO Exome Sequencing Project African American Sub 4406 C=0.9909 T=0.0091
1000Genomes_30x Global Study-wide 6404 C=0.9899 T=0.0101
1000Genomes_30x African Sub 1786 C=0.9972 T=0.0028
1000Genomes_30x Europe Sub 1266 C=0.9637 T=0.0363
1000Genomes_30x South Asian Sub 1202 C=0.9967 T=0.0033
1000Genomes_30x East Asian Sub 1170 C=1.0000 T=0.0000
1000Genomes_30x American Sub 980 C=0.990 T=0.010
1000Genomes Global Study-wide 5008 C=0.9898 T=0.0102
1000Genomes African Sub 1322 C=0.9962 T=0.0038
1000Genomes East Asian Sub 1008 C=1.0000 T=0.0000
1000Genomes Europe Sub 1006 C=0.9642 T=0.0358
1000Genomes South Asian Sub 978 C=0.996 T=0.004
1000Genomes American Sub 694 C=0.991 T=0.009
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9239 T=0.0761
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9484 T=0.0516
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9482 T=0.0518
Korean Genome Project KOREAN Study-wide 1832 C=0.9995 T=0.0005
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.950 T=0.050
Northern Sweden ACPOP Study-wide 600 C=0.965 T=0.035
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.970 T=0.030
FINRISK Finnish from FINRISK project Study-wide 304 C=0.964 T=0.036
The Danish reference pan genome Danish Study-wide 40 C=0.95 T=0.05
Siberian Global Study-wide 12 C=0.50 T=0.50
SGDP_PRJ Global Study-wide 10 C=0.4 T=0.6
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.p14 chr 21 NC_000021.9:g.42388983C>T
GRCh37.p13 chr 21 NC_000021.8:g.43809092C>T
TMPRSS3 RefSeqGene NG_011629.2:g.12109G>A
Gene: TMPRSS3, transmembrane serine protease 3 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TMPRSS3 transcript variant C NM_032404.3:c.-114= N/A 5 Prime UTR Variant
TMPRSS3 transcript variant D NM_032405.2:c.268G>A A [GCT] > T [ACT] Coding Sequence Variant
transmembrane protease serine 3 isoform 3 NP_115781.1:p.Ala90Thr A (Ala) > T (Thr) Missense Variant
TMPRSS3 transcript variant F NM_001256317.3:c.268G>A A [GCT] > T [ACT] Coding Sequence Variant
transmembrane protease serine 3 isoform 4 NP_001243246.1:p.Ala90Thr A (Ala) > T (Thr) Missense Variant
TMPRSS3 transcript variant A NM_024022.4:c.268G>A A [GCT] > T [ACT] Coding Sequence Variant
transmembrane protease serine 3 isoform 1 NP_076927.1:p.Ala90Thr A (Ala) > T (Thr) 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: T (allele ID: 55272 )
ClinVar Accession Disease Names Clinical Significance
RCV000039344.10 not specified Benign
RCV000999777.7 Autosomal recessive nonsyndromic hearing loss 8 Benign-Likely-Benign
RCV002054752.3 not provided Benign
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 C= T
GRCh38.p14 chr 21 NC_000021.9:g.42388983= NC_000021.9:g.42388983C>T
GRCh37.p13 chr 21 NC_000021.8:g.43809092= NC_000021.8:g.43809092C>T
TMPRSS3 RefSeqGene NG_011629.2:g.12109= NG_011629.2:g.12109G>A
TMPRSS3 transcript variant A NM_024022.4:c.268= NM_024022.4:c.268G>A
TMPRSS3 transcript variant A NM_024022.3:c.268= NM_024022.3:c.268G>A
TMPRSS3 transcript variant A NM_024022.2:c.268= NM_024022.2:c.268G>A
TMPRSS3 transcript variant F NM_001256317.3:c.268= NM_001256317.3:c.268G>A
TMPRSS3 transcript variant F NM_001256317.2:c.268= NM_001256317.2:c.268G>A
TMPRSS3 transcript variant F NM_001256317.1:c.268= NM_001256317.1:c.268G>A
TMPRSS3 transcript variant C NM_032404.3:c.-114= NM_032404.3:c.-114G>A
TMPRSS3 transcript variant C NM_032404.2:c.-114= NM_032404.2:c.-114G>A
TMPRSS3 transcript variant D NM_032405.2:c.268= NM_032405.2:c.268G>A
TMPRSS3 transcript variant D NM_032405.1:c.268= NM_032405.1:c.268G>A
TMPRSS3 transcript variant G NR_046020.1:n.1224= NR_046020.1:n.1224G>A
TMPRSS3 transcript variant B NM_032401.1:c.-114= NM_032401.1:c.-114G>A
TADG12 transcript NM_022364.1:c.271A>G NM_022364.1:c.271=
TMPRSS3 transcript variant E NR_027348.1:n.162= NR_027348.1:n.162G>A
transmembrane protease serine 3 isoform 1 NP_076927.1:p.Ala90= NP_076927.1:p.Ala90Thr
transmembrane protease serine 3 isoform 4 NP_001243246.1:p.Ala90= NP_001243246.1:p.Ala90Thr
transmembrane protease serine 3 isoform 3 NP_115781.1:p.Ala90= NP_115781.1:p.Ala90Thr
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#.

79 SubSNP, 22 Frequency, 3 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SI_EXO ss71642033 May 18, 2007 (127)
2 CGM_KYOTO ss76871610 Dec 07, 2007 (129)
3 BCM-HGSC-SUB ss208787341 Jul 04, 2010 (132)
4 1000GENOMES ss237998203 Jul 15, 2010 (132)
5 LMM-PCPGM ss244317048 Jun 15, 2010 (132)
6 NHLBI-ESP ss342533183 May 09, 2011 (134)
7 ILLUMINA ss483665987 May 04, 2012 (137)
8 ILLUMINA ss484277510 May 04, 2012 (137)
9 1000GENOMES ss491185464 May 04, 2012 (137)
10 EXOME_CHIP ss491566295 May 04, 2012 (137)
11 CLINSEQ_SNP ss491816687 May 04, 2012 (137)
12 ILLUMINA ss535868824 Sep 08, 2015 (146)
13 ILLUMINA ss779513364 Sep 08, 2015 (146)
14 ILLUMINA ss780758771 Sep 08, 2015 (146)
15 ILLUMINA ss782276447 Sep 08, 2015 (146)
16 ILLUMINA ss783437500 Sep 08, 2015 (146)
17 ILLUMINA ss834983752 Sep 08, 2015 (146)
18 EVA-GONL ss995158054 Aug 21, 2014 (142)
19 1000GENOMES ss1366433428 Aug 21, 2014 (142)
20 EVA_GENOME_DK ss1579679048 Apr 01, 2015 (144)
21 EVA_FINRISK ss1584125411 Apr 01, 2015 (144)
22 EVA_UK10K_ALSPAC ss1639640928 Apr 01, 2015 (144)
23 EVA_UK10K_TWINSUK ss1682634961 Apr 01, 2015 (144)
24 EVA_EXAC ss1694166560 Apr 01, 2015 (144)
25 EVA_DECODE ss1699229680 Apr 01, 2015 (144)
26 EVA_MGP ss1711555253 Apr 01, 2015 (144)
27 ILLUMINA ss1752410227 Sep 08, 2015 (146)
28 ILLUMINA ss1917951888 Feb 12, 2016 (147)
29 ILLUMINA ss1946570255 Feb 12, 2016 (147)
30 ILLUMINA ss1959957316 Feb 12, 2016 (147)
31 JJLAB ss2030128679 Sep 14, 2016 (149)
32 USC_VALOUEV ss2158733655 Dec 20, 2016 (150)
33 HUMAN_LONGEVITY ss2246072787 Dec 20, 2016 (150)
34 ILLUMINA ss2633854768 Nov 08, 2017 (151)
35 GNOMAD ss2744867292 Nov 08, 2017 (151)
36 GNOMAD ss2750465900 Nov 08, 2017 (151)
37 GNOMAD ss2972192307 Nov 08, 2017 (151)
38 AFFY ss2985230236 Nov 08, 2017 (151)
39 SWEGEN ss3018952240 Nov 08, 2017 (151)
40 ILLUMINA ss3022163397 Nov 08, 2017 (151)
41 ILLUMINA ss3628491194 Oct 12, 2018 (152)
42 ILLUMINA ss3628491195 Oct 12, 2018 (152)
43 ILLUMINA ss3631808035 Oct 12, 2018 (152)
44 ILLUMINA ss3634857117 Oct 12, 2018 (152)
45 ILLUMINA ss3640564417 Oct 12, 2018 (152)
46 ILLUMINA ss3644793836 Oct 12, 2018 (152)
47 BIOINF_KMB_FNS_UNIBA ss3645671666 Oct 12, 2018 (152)
48 ILLUMINA ss3652623983 Oct 12, 2018 (152)
49 ILLUMINA ss3653998124 Oct 12, 2018 (152)
50 EGCUT_WGS ss3685529951 Jul 13, 2019 (153)
51 EVA_DECODE ss3707807774 Jul 13, 2019 (153)
52 ILLUMINA ss3725951551 Jul 13, 2019 (153)
53 ACPOP ss3743766082 Jul 13, 2019 (153)
54 ILLUMINA ss3744498888 Jul 13, 2019 (153)
55 ILLUMINA ss3745156966 Jul 13, 2019 (153)
56 EVA ss3759154523 Jul 13, 2019 (153)
57 PAGE_CC ss3772077122 Jul 13, 2019 (153)
58 ILLUMINA ss3772653006 Jul 13, 2019 (153)
59 EVA ss3825409096 Apr 27, 2020 (154)
60 EVA ss3825961914 Apr 27, 2020 (154)
61 SGDP_PRJ ss3890082955 Apr 27, 2020 (154)
62 KOGIC ss3983166387 Apr 27, 2020 (154)
63 EVA ss3986847101 Apr 27, 2021 (155)
64 TOPMED ss5102841598 Apr 27, 2021 (155)
65 TOMMO_GENOMICS ss5231693539 Apr 27, 2021 (155)
66 EVA ss5237675311 Oct 16, 2022 (156)
67 1000G_HIGH_COVERAGE ss5310346647 Oct 16, 2022 (156)
68 EVA ss5440123841 Oct 16, 2022 (156)
69 HUGCELL_USP ss5502383105 Oct 16, 2022 (156)
70 1000G_HIGH_COVERAGE ss5617548177 Oct 16, 2022 (156)
71 SANFORD_IMAGENETICS ss5624497950 Oct 16, 2022 (156)
72 SANFORD_IMAGENETICS ss5664089012 Oct 16, 2022 (156)
73 TOMMO_GENOMICS ss5792252993 Oct 16, 2022 (156)
74 EVA ss5839093289 Oct 16, 2022 (156)
75 EVA ss5847936058 Oct 16, 2022 (156)
76 EVA ss5848558701 Oct 16, 2022 (156)
77 EVA ss5892506389 Oct 16, 2022 (156)
78 EVA ss5958988388 Oct 16, 2022 (156)
79 EVA ss5979630708 Oct 16, 2022 (156)
80 1000Genomes NC_000021.8 - 43809092 Oct 12, 2018 (152)
81 1000Genomes_30x NC_000021.9 - 42388983 Oct 16, 2022 (156)
82 The Avon Longitudinal Study of Parents and Children NC_000021.8 - 43809092 Oct 12, 2018 (152)
83 Genetic variation in the Estonian population NC_000021.8 - 43809092 Oct 12, 2018 (152)
84 ExAC NC_000021.8 - 43809092 Oct 12, 2018 (152)
85 FINRISK NC_000021.8 - 43809092 Apr 27, 2020 (154)
86 The Danish reference pan genome NC_000021.8 - 43809092 Apr 27, 2020 (154)
87 gnomAD - Genomes NC_000021.9 - 42388983 Apr 27, 2021 (155)
88 gnomAD - Exomes NC_000021.8 - 43809092 Jul 13, 2019 (153)
89 GO Exome Sequencing Project NC_000021.8 - 43809092 Oct 12, 2018 (152)
90 Genome of the Netherlands Release 5 NC_000021.8 - 43809092 Apr 27, 2020 (154)
91 Korean Genome Project NC_000021.9 - 42388983 Apr 27, 2020 (154)
92 Medical Genome Project healthy controls from Spanish population NC_000021.8 - 43809092 Apr 27, 2020 (154)
93 Northern Sweden NC_000021.8 - 43809092 Jul 13, 2019 (153)
94 The PAGE Study NC_000021.9 - 42388983 Jul 13, 2019 (153)
95 SGDP_PRJ NC_000021.8 - 43809092 Apr 27, 2020 (154)
96 Siberian NC_000021.8 - 43809092 Apr 27, 2020 (154)
97 8.3KJPN NC_000021.8 - 43809092 Apr 27, 2021 (155)
98 14KJPN NC_000021.9 - 42388983 Oct 16, 2022 (156)
99 TopMed NC_000021.9 - 42388983 Apr 27, 2021 (155)
100 UK 10K study - Twins NC_000021.8 - 43809092 Oct 12, 2018 (152)
101 ALFA NC_000021.9 - 42388983 Apr 27, 2021 (155)
102 ClinVar RCV000039344.10 Oct 16, 2022 (156)
103 ClinVar RCV000999777.7 Oct 16, 2022 (156)
104 ClinVar RCV002054752.3 Oct 16, 2022 (156)
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
ss208787341, ss484277510, ss491816687, ss1699229680 NC_000021.7:42682160:C:T NC_000021.9:42388982:C:T (self)
79958769, 44256636, 31268199, 5734057, 121872, 5843987, 14193939, 1865968, 19714810, 671013, 17050947, 42099935, 11250009, 89662846, 44256636, ss237998203, ss342533183, ss483665987, ss491185464, ss491566295, ss535868824, ss779513364, ss780758771, ss782276447, ss783437500, ss834983752, ss995158054, ss1366433428, ss1579679048, ss1584125411, ss1639640928, ss1682634961, ss1694166560, ss1711555253, ss1752410227, ss1917951888, ss1946570255, ss1959957316, ss2030128679, ss2158733655, ss2633854768, ss2744867292, ss2750465900, ss2972192307, ss2985230236, ss3018952240, ss3022163397, ss3628491194, ss3628491195, ss3631808035, ss3634857117, ss3640564417, ss3644793836, ss3652623983, ss3653998124, ss3685529951, ss3743766082, ss3744498888, ss3745156966, ss3759154523, ss3772653006, ss3825409096, ss3825961914, ss3890082955, ss3986847101, ss5231693539, ss5440123841, ss5624497950, ss5664089012, ss5839093289, ss5847936058, ss5848558701, ss5958988388, ss5979630708 NC_000021.8:43809091:C:T NC_000021.9:42388982:C:T (self)
RCV000039344.10, RCV000999777.7, RCV002054752.3, 105074112, 564193337, 39544388, 1298591, 126090097, 377950544, 14210969027, ss244317048, ss2246072787, ss3645671666, ss3707807774, ss3725951551, ss3772077122, ss3983166387, ss5102841598, ss5237675311, ss5310346647, ss5502383105, ss5617548177, ss5792252993, ss5892506389 NC_000021.9:42388982:C:T NC_000021.9:42388982:C:T (self)
ss71642033, ss76871610 NT_011515.12:803532:C:T NC_000021.9:42388982:C:T (self)
Help

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

3 citations for rs45598239
PMID Title Author Year Journal
16283880 Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing. Hutchin T et al. 2005 Clinical genetics
24033266 A systematic approach to assessing the clinical significance of genetic variants. Duzkale H et al. 2013 Clinical genetics
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.post761+d5e8e07