Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs442173

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:9508906 (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
G>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.095568 (25296/264690, TOPMED)
G=0.084430 (11838/140210, ALFA)
G=0.091132 (12775/140182, GnomAD) (+ 17 more)
G=0.29984 (8473/28258, 14KJPN)
G=0.30048 (5036/16760, 8.3KJPN)
G=0.1683 (1078/6404, 1000G_30x)
G=0.1743 (873/5008, 1000G)
G=0.1004 (450/4480, Estonian)
G=0.0859 (331/3854, ALSPAC)
G=0.0852 (316/3708, TWINSUK)
G=0.3229 (946/2930, KOREAN)
G=0.3515 (644/1832, Korea1K)
G=0.063 (63/998, GoNL)
G=0.063 (38/600, NorthernSweden)
G=0.151 (79/524, SGDP_PRJ)
G=0.152 (50/330, HapMap)
G=0.083 (18/216, Qatari)
G=0.241 (51/212, Vietnamese)
G=0.06 (3/50, Siberian)
G=0.07 (3/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SEMA5A : Intron Variant
Publications
1 citation
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 140210 G=0.084430 A=0.915570
European Sub 118384 G=0.081557 A=0.918443
African Sub 8126 G=0.0797 A=0.9203
African Others Sub 292 G=0.051 A=0.949
African American Sub 7834 G=0.0808 A=0.9192
Asian Sub 584 G=0.272 A=0.728
East Asian Sub 456 G=0.285 A=0.715
Other Asian Sub 128 G=0.227 A=0.773
Latin American 1 Sub 734 G=0.075 A=0.925
Latin American 2 Sub 6130 G=0.1069 A=0.8931
South Asian Sub 182 G=0.209 A=0.791
Other Sub 6070 G=0.1035 A=0.8965


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=0.095568 A=0.904432
Allele Frequency Aggregator Total Global 140210 G=0.084430 A=0.915570
Allele Frequency Aggregator European Sub 118384 G=0.081557 A=0.918443
Allele Frequency Aggregator African Sub 8126 G=0.0797 A=0.9203
Allele Frequency Aggregator Latin American 2 Sub 6130 G=0.1069 A=0.8931
Allele Frequency Aggregator Other Sub 6070 G=0.1035 A=0.8965
Allele Frequency Aggregator Latin American 1 Sub 734 G=0.075 A=0.925
Allele Frequency Aggregator Asian Sub 584 G=0.272 A=0.728
Allele Frequency Aggregator South Asian Sub 182 G=0.209 A=0.791
gnomAD - Genomes Global Study-wide 140182 G=0.091132 A=0.908868
gnomAD - Genomes European Sub 75936 G=0.08684 A=0.91316
gnomAD - Genomes African Sub 42006 G=0.07385 A=0.92615
gnomAD - Genomes American Sub 13640 G=0.11100 A=0.88900
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.0851 A=0.9149
gnomAD - Genomes East Asian Sub 3126 G=0.3391 A=0.6609
gnomAD - Genomes Other Sub 2150 G=0.1033 A=0.8967
14KJPN JAPANESE Study-wide 28258 G=0.29984 A=0.70016
8.3KJPN JAPANESE Study-wide 16760 G=0.30048 A=0.69952
1000Genomes_30x Global Study-wide 6404 G=0.1683 A=0.8317
1000Genomes_30x African Sub 1786 G=0.0879 A=0.9121
1000Genomes_30x Europe Sub 1266 G=0.0908 A=0.9092
1000Genomes_30x South Asian Sub 1202 G=0.2196 A=0.7804
1000Genomes_30x East Asian Sub 1170 G=0.3436 A=0.6564
1000Genomes_30x American Sub 980 G=0.143 A=0.857
1000Genomes Global Study-wide 5008 G=0.1743 A=0.8257
1000Genomes African Sub 1322 G=0.0893 A=0.9107
1000Genomes East Asian Sub 1008 G=0.3452 A=0.6548
1000Genomes Europe Sub 1006 G=0.0885 A=0.9115
1000Genomes South Asian Sub 978 G=0.226 A=0.774
1000Genomes American Sub 694 G=0.140 A=0.860
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.1004 A=0.8996
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.0859 A=0.9141
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.0852 A=0.9148
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.3229 A=0.6771, C=0.0000, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 G=0.3515 A=0.6485
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.063 A=0.937
Northern Sweden ACPOP Study-wide 600 G=0.063 A=0.937
SGDP_PRJ Global Study-wide 524 G=0.151 A=0.849
HapMap Global Study-wide 330 G=0.152 A=0.848
HapMap African Sub 120 G=0.042 A=0.958
HapMap American Sub 120 G=0.108 A=0.892
HapMap Asian Sub 90 G=0.36 A=0.64
Qatari Global Study-wide 216 G=0.083 A=0.917
A Vietnamese Genetic Variation Database Global Study-wide 212 G=0.241 A=0.759
Siberian Global Study-wide 50 G=0.06 A=0.94
The Danish reference pan genome Danish Study-wide 40 G=0.07 A=0.93
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 5 NC_000005.10:g.9508906G>A
GRCh38.p14 chr 5 NC_000005.10:g.9508906G>C
GRCh38.p14 chr 5 NC_000005.10:g.9508906G>T
GRCh37.p13 chr 5 NC_000005.9:g.9509018G>A
GRCh37.p13 chr 5 NC_000005.9:g.9509018G>C
GRCh37.p13 chr 5 NC_000005.9:g.9509018G>T
SEMA5A RefSeqGene NG_016410.1:g.42216C>T
SEMA5A RefSeqGene NG_016410.1:g.42216C>G
SEMA5A RefSeqGene NG_016410.1:g.42216C>A
Gene: SEMA5A, semaphorin 5A (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SEMA5A transcript NM_003966.3:c.-175+36678C…

NM_003966.3:c.-175+36678C>T

N/A Intron Variant
SEMA5A transcript variant X1 XM_006714506.4:c.-320+366…

XM_006714506.4:c.-320+36678C>T

N/A Intron Variant
SEMA5A transcript variant X7 XM_011514155.3:c.-175+364…

XM_011514155.3:c.-175+36410C>T

N/A Intron Variant
SEMA5A transcript variant X2 XM_011514156.3:c.-393+366…

XM_011514156.3:c.-393+36678C>T

N/A Intron Variant
SEMA5A transcript variant X3 XM_011514157.3:c.-248+366…

XM_011514157.3:c.-248+36678C>T

N/A Intron Variant
SEMA5A transcript variant X5 XM_011514158.3:c.-78+3667…

XM_011514158.3:c.-78+36678C>T

N/A Intron Variant
SEMA5A transcript variant X8 XM_047417865.1:c.-320+364…

XM_047417865.1:c.-320+36410C>T

N/A Intron Variant
SEMA5A transcript variant X4 XM_047417866.1:c.-393+364…

XM_047417866.1:c.-393+36410C>T

N/A Intron Variant
SEMA5A transcript variant X6 XM_006714507.4:c. N/A Genic Upstream Transcript Variant
SEMA5A transcript variant X9 XM_011514159.3:c. N/A Genic Upstream Transcript Variant
SEMA5A transcript variant X10 XM_047417867.1: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
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 T
GRCh38.p14 chr 5 NC_000005.10:g.9508906= NC_000005.10:g.9508906G>A NC_000005.10:g.9508906G>C NC_000005.10:g.9508906G>T
GRCh37.p13 chr 5 NC_000005.9:g.9509018= NC_000005.9:g.9509018G>A NC_000005.9:g.9509018G>C NC_000005.9:g.9509018G>T
SEMA5A RefSeqGene NG_016410.1:g.42216= NG_016410.1:g.42216C>T NG_016410.1:g.42216C>G NG_016410.1:g.42216C>A
SEMA5A transcript NM_003966.2:c.-175+36678= NM_003966.2:c.-175+36678C>T NM_003966.2:c.-175+36678C>G NM_003966.2:c.-175+36678C>A
SEMA5A transcript NM_003966.3:c.-175+36678= NM_003966.3:c.-175+36678C>T NM_003966.3:c.-175+36678C>G NM_003966.3:c.-175+36678C>A
SEMA5A transcript variant X1 XM_006714506.4:c.-320+36678= XM_006714506.4:c.-320+36678C>T XM_006714506.4:c.-320+36678C>G XM_006714506.4:c.-320+36678C>A
SEMA5A transcript variant X7 XM_011514155.3:c.-175+36410= XM_011514155.3:c.-175+36410C>T XM_011514155.3:c.-175+36410C>G XM_011514155.3:c.-175+36410C>A
SEMA5A transcript variant X2 XM_011514156.3:c.-393+36678= XM_011514156.3:c.-393+36678C>T XM_011514156.3:c.-393+36678C>G XM_011514156.3:c.-393+36678C>A
SEMA5A transcript variant X3 XM_011514157.3:c.-248+36678= XM_011514157.3:c.-248+36678C>T XM_011514157.3:c.-248+36678C>G XM_011514157.3:c.-248+36678C>A
SEMA5A transcript variant X5 XM_011514158.3:c.-78+36678= XM_011514158.3:c.-78+36678C>T XM_011514158.3:c.-78+36678C>G XM_011514158.3:c.-78+36678C>A
SEMA5A transcript variant X8 XM_047417865.1:c.-320+36410= XM_047417865.1:c.-320+36410C>T XM_047417865.1:c.-320+36410C>G XM_047417865.1:c.-320+36410C>A
SEMA5A transcript variant X4 XM_047417866.1:c.-393+36410= XM_047417866.1:c.-393+36410C>T XM_047417866.1:c.-393+36410C>G XM_047417866.1:c.-393+36410C>A
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#.

112 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss590432 Jul 16, 2000 (80)
2 TSC-CSHL ss3109731 Jun 15, 2001 (96)
3 YUSUKE ss4963433 Aug 28, 2002 (108)
4 BCM_SSAHASNP ss10200642 Jul 11, 2003 (116)
5 WI_SSAHASNP ss11705871 Jul 11, 2003 (116)
6 CSHL-HAPMAP ss17828523 Feb 27, 2004 (120)
7 SSAHASNP ss22238906 Apr 05, 2004 (121)
8 PERLEGEN ss23910162 Sep 20, 2004 (123)
9 AFFY ss66036403 Nov 30, 2006 (127)
10 HGSV ss80178963 Dec 15, 2007 (130)
11 KRIBB_YJKIM ss81421689 Dec 16, 2007 (130)
12 HGSV ss85580505 Dec 15, 2007 (130)
13 BCMHGSC_JDW ss92988419 Mar 24, 2008 (129)
14 HUMANGENOME_JCVI ss98595452 Feb 05, 2009 (130)
15 BGI ss104166816 Dec 01, 2009 (131)
16 1000GENOMES ss108798387 Jan 23, 2009 (130)
17 1000GENOMES ss111409998 Jan 25, 2009 (130)
18 ILLUMINA-UK ss116469572 Feb 14, 2009 (130)
19 ENSEMBL ss142846255 Dec 01, 2009 (131)
20 ENSEMBL ss142994290 Dec 01, 2009 (131)
21 GMI ss155026595 Dec 01, 2009 (131)
22 ILLUMINA ss160678646 Dec 01, 2009 (131)
23 COMPLETE_GENOMICS ss162000310 Jul 04, 2010 (132)
24 COMPLETE_GENOMICS ss164201556 Jul 04, 2010 (132)
25 COMPLETE_GENOMICS ss166137265 Jul 04, 2010 (132)
26 BUSHMAN ss199868478 Jul 04, 2010 (132)
27 BCM-HGSC-SUB ss206736625 Jul 04, 2010 (132)
28 1000GENOMES ss221511583 Jul 14, 2010 (132)
29 1000GENOMES ss232824908 Jul 14, 2010 (132)
30 1000GENOMES ss240023035 Jul 15, 2010 (132)
31 BL ss253218556 May 09, 2011 (134)
32 GMI ss278164104 May 04, 2012 (137)
33 GMI ss285117110 Apr 25, 2013 (138)
34 PJP ss293413322 May 09, 2011 (134)
35 ILLUMINA ss480943305 May 04, 2012 (137)
36 ILLUMINA ss480962871 May 04, 2012 (137)
37 ILLUMINA ss481929058 Sep 08, 2015 (146)
38 ILLUMINA ss485266570 May 04, 2012 (137)
39 ILLUMINA ss537235055 Sep 08, 2015 (146)
40 TISHKOFF ss558197488 Apr 25, 2013 (138)
41 SSMP ss652042152 Apr 25, 2013 (138)
42 ILLUMINA ss778535927 Sep 08, 2015 (146)
43 ILLUMINA ss783079218 Sep 08, 2015 (146)
44 ILLUMINA ss784036876 Sep 08, 2015 (146)
45 ILLUMINA ss832337509 Sep 08, 2015 (146)
46 ILLUMINA ss833992500 Sep 08, 2015 (146)
47 EVA-GONL ss981238656 Aug 21, 2014 (142)
48 JMKIDD_LAB ss1072382620 Aug 21, 2014 (142)
49 1000GENOMES ss1313866915 Aug 21, 2014 (142)
50 DDI ss1430242984 Apr 01, 2015 (144)
51 EVA_GENOME_DK ss1581008156 Apr 01, 2015 (144)
52 EVA_UK10K_ALSPAC ss1612255313 Apr 01, 2015 (144)
53 EVA_UK10K_TWINSUK ss1655249346 Apr 01, 2015 (144)
54 ILLUMINA ss1752590502 Sep 08, 2015 (146)
55 HAMMER_LAB ss1803045778 Sep 08, 2015 (146)
56 WEILL_CORNELL_DGM ss1924498783 Feb 12, 2016 (147)
57 GENOMED ss1970010856 Jul 19, 2016 (147)
58 JJLAB ss2022846737 Sep 14, 2016 (149)
59 USC_VALOUEV ss2150995884 Dec 20, 2016 (150)
60 HUMAN_LONGEVITY ss2271297427 Dec 20, 2016 (150)
61 SYSTEMSBIOZJU ss2625922539 Nov 08, 2017 (151)
62 ILLUMINA ss2634244775 Nov 08, 2017 (151)
63 GRF ss2706521000 Nov 08, 2017 (151)
64 GNOMAD ss2821043314 Nov 08, 2017 (151)
65 SWEGEN ss2996423661 Nov 08, 2017 (151)
66 BIOINF_KMB_FNS_UNIBA ss3025207839 Nov 08, 2017 (151)
67 CSHL ss3346238720 Nov 08, 2017 (151)
68 ILLUMINA ss3629175945 Oct 12, 2018 (152)
69 ILLUMINA ss3632173655 Oct 12, 2018 (152)
70 ILLUMINA ss3633365215 Oct 12, 2018 (152)
71 ILLUMINA ss3634085445 Oct 12, 2018 (152)
72 ILLUMINA ss3634990797 Oct 12, 2018 (152)
73 ILLUMINA ss3635767677 Oct 12, 2018 (152)
74 ILLUMINA ss3636700169 Oct 12, 2018 (152)
75 ILLUMINA ss3637520280 Oct 12, 2018 (152)
76 ILLUMINA ss3640698090 Oct 12, 2018 (152)
77 ILLUMINA ss3641470749 Oct 12, 2018 (152)
78 URBANLAB ss3647984108 Oct 12, 2018 (152)
79 EGCUT_WGS ss3664314113 Jul 13, 2019 (153)
80 EVA_DECODE ss3714086130 Jul 13, 2019 (153)
81 ACPOP ss3732081365 Jul 13, 2019 (153)
82 ILLUMINA ss3745290931 Jul 13, 2019 (153)
83 EVA ss3763055252 Jul 13, 2019 (153)
84 ILLUMINA ss3772785302 Jul 13, 2019 (153)
85 PACBIO ss3785021675 Jul 13, 2019 (153)
86 PACBIO ss3790440163 Jul 13, 2019 (153)
87 PACBIO ss3795316713 Jul 13, 2019 (153)
88 KHV_HUMAN_GENOMES ss3806222311 Jul 13, 2019 (153)
89 EVA ss3829090599 Apr 26, 2020 (154)
90 EVA ss3838007261 Apr 26, 2020 (154)
91 EVA ss3843446986 Apr 26, 2020 (154)
92 SGDP_PRJ ss3861192859 Apr 26, 2020 (154)
93 KRGDB ss3907634961 Apr 26, 2020 (154)
94 KOGIC ss3956077782 Apr 26, 2020 (154)
95 EVA ss4017192632 Apr 26, 2021 (155)
96 TOPMED ss4649277404 Apr 26, 2021 (155)
97 TOMMO_GENOMICS ss5170337890 Apr 26, 2021 (155)
98 1000G_HIGH_COVERAGE ss5262844261 Oct 13, 2022 (156)
99 EVA ss5315031611 Oct 13, 2022 (156)
100 EVA ss5355592882 Oct 13, 2022 (156)
101 HUGCELL_USP ss5461194062 Oct 13, 2022 (156)
102 EVA ss5507911698 Oct 13, 2022 (156)
103 1000G_HIGH_COVERAGE ss5545876645 Oct 13, 2022 (156)
104 SANFORD_IMAGENETICS ss5637166030 Oct 13, 2022 (156)
105 TOMMO_GENOMICS ss5705999004 Oct 13, 2022 (156)
106 EVA ss5799641077 Oct 13, 2022 (156)
107 YY_MCH ss5806013199 Oct 13, 2022 (156)
108 EVA ss5834506601 Oct 13, 2022 (156)
109 EVA ss5854678543 Oct 13, 2022 (156)
110 EVA ss5892953736 Oct 13, 2022 (156)
111 EVA ss5965576719 Oct 13, 2022 (156)
112 EVA ss5980279084 Oct 13, 2022 (156)
113 1000Genomes NC_000005.9 - 9509018 Oct 12, 2018 (152)
114 1000Genomes_30x NC_000005.10 - 9508906 Oct 13, 2022 (156)
115 The Avon Longitudinal Study of Parents and Children NC_000005.9 - 9509018 Oct 12, 2018 (152)
116 Genetic variation in the Estonian population NC_000005.9 - 9509018 Oct 12, 2018 (152)
117 The Danish reference pan genome NC_000005.9 - 9509018 Apr 26, 2020 (154)
118 gnomAD - Genomes NC_000005.10 - 9508906 Apr 26, 2021 (155)
119 Genome of the Netherlands Release 5 NC_000005.9 - 9509018 Apr 26, 2020 (154)
120 HapMap NC_000005.10 - 9508906 Apr 26, 2020 (154)
121 KOREAN population from KRGDB NC_000005.9 - 9509018 Apr 26, 2020 (154)
122 Korean Genome Project NC_000005.10 - 9508906 Apr 26, 2020 (154)
123 Northern Sweden NC_000005.9 - 9509018 Jul 13, 2019 (153)
124 Qatari NC_000005.9 - 9509018 Apr 26, 2020 (154)
125 SGDP_PRJ NC_000005.9 - 9509018 Apr 26, 2020 (154)
126 Siberian NC_000005.9 - 9509018 Apr 26, 2020 (154)
127 8.3KJPN NC_000005.9 - 9509018 Apr 26, 2021 (155)
128 14KJPN NC_000005.10 - 9508906 Oct 13, 2022 (156)
129 TopMed NC_000005.10 - 9508906 Apr 26, 2021 (155)
130 UK 10K study - Twins NC_000005.9 - 9509018 Oct 12, 2018 (152)
131 A Vietnamese Genetic Variation Database NC_000005.9 - 9509018 Jul 13, 2019 (153)
132 ALFA NC_000005.10 - 9508906 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)
rs3777366 Oct 08, 2002 (108)
rs59698388 May 25, 2008 (130)
rs61510889 Feb 27, 2009 (130)
rs386593026 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss66036403, ss80178963, ss85580505, ss92988419, ss108798387, ss111409998, ss116469572, ss162000310, ss164201556, ss166137265, ss199868478, ss206736625, ss253218556, ss278164104, ss285117110, ss293413322, ss480943305 NC_000005.8:9562017:G:A NC_000005.10:9508905:G:A (self)
25420339, 14144034, 10052361, 7173095, 6280173, 14812355, 5366230, 6540713, 13209839, 3512238, 28307197, 14144034, 3138160, ss221511583, ss232824908, ss240023035, ss480962871, ss481929058, ss485266570, ss537235055, ss558197488, ss652042152, ss778535927, ss783079218, ss784036876, ss832337509, ss833992500, ss981238656, ss1072382620, ss1313866915, ss1430242984, ss1581008156, ss1612255313, ss1655249346, ss1752590502, ss1803045778, ss1924498783, ss1970010856, ss2022846737, ss2150995884, ss2625922539, ss2634244775, ss2706521000, ss2821043314, ss2996423661, ss3346238720, ss3629175945, ss3632173655, ss3633365215, ss3634085445, ss3634990797, ss3635767677, ss3636700169, ss3637520280, ss3640698090, ss3641470749, ss3664314113, ss3732081365, ss3745290931, ss3763055252, ss3772785302, ss3785021675, ss3790440163, ss3795316713, ss3829090599, ss3838007261, ss3861192859, ss3907634961, ss4017192632, ss5170337890, ss5315031611, ss5355592882, ss5507911698, ss5637166030, ss5799641077, ss5834506601, ss5965576719, ss5980279084 NC_000005.9:9509017:G:A NC_000005.10:9508905:G:A (self)
33402580, 179646084, 2807102, 12455783, 39836108, 486654961, 7069438567, ss2271297427, ss3025207839, ss3647984108, ss3714086130, ss3806222311, ss3843446986, ss3956077782, ss4649277404, ss5262844261, ss5461194062, ss5545876645, ss5705999004, ss5806013199, ss5854678543, ss5892953736 NC_000005.10:9508905:G:A NC_000005.10:9508905:G:A (self)
ss590432, ss3109731, ss4963433, ss23910162, ss81421689, ss98595452, ss104166816, ss142846255, ss142994290, ss155026595, ss160678646 NT_006576.16:9499017:G:A NC_000005.10:9508905:G:A (self)
ss10200642, ss11705871, ss17828523, ss22238906 NT_023089.13:9491755:G:A NC_000005.10:9508905:G:A (self)
14812355, ss3907634961 NC_000005.9:9509017:G:C NC_000005.10:9508905:G:C (self)
14812355, ss3907634961 NC_000005.9:9509017:G:T NC_000005.10:9508905:G:T (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 rs442173
PMID Title Author Year Journal
19089452 Identification of genomic regions contributing to etoposide-induced cytotoxicity. Bleibel WK et al. 2009 Human genetics
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