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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.

rs114014006

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr16:3590814 (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>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.018758 (4965/264690, TOPMED)
G=0.018793 (2636/140264, GnomAD)
G=0.004621 (530/114684, ALFA) (+ 11 more)
G=0.02614 (2029/77606, PAGE_STUDY)
G=0.01816 (236/12994, GO-ESP)
G=0.0198 (127/6404, 1000G_30x)
G=0.0180 (90/5008, 1000G)
G=0.0004 (2/4480, Estonian)
G=0.0018 (7/3854, ALSPAC)
G=0.0011 (4/3708, TWINSUK)
G=0.001 (1/998, GoNL)
G=0.019 (4/216, Qatari)
C=0.5 (3/6, SGDP_PRJ)
G=0.5 (3/6, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
SLX4 : Missense 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 114684 C=0.995379 G=0.004621
European Sub 96934 C=0.99741 G=0.00259
African Sub 4374 C=0.9556 G=0.0444
African Others Sub 174 C=0.925 G=0.075
African American Sub 4200 C=0.9569 G=0.0431
Asian Sub 3322 C=1.0000 G=0.0000
East Asian Sub 2668 C=1.0000 G=0.0000
Other Asian Sub 654 C=1.000 G=0.000
Latin American 1 Sub 788 C=0.973 G=0.027
Latin American 2 Sub 946 C=0.993 G=0.007
South Asian Sub 274 C=0.996 G=0.004
Other Sub 8046 C=0.9930 G=0.0070


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=0.981242 G=0.018758
gnomAD - Genomes Global Study-wide 140264 C=0.981207 G=0.018793
gnomAD - Genomes European Sub 75948 C=0.99763 G=0.00237
gnomAD - Genomes African Sub 42042 C=0.94515 G=0.05485
gnomAD - Genomes American Sub 13668 C=0.99239 G=0.00761
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=0.9967 G=0.0033
gnomAD - Genomes East Asian Sub 3130 C=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2152 C=0.9837 G=0.0163
Allele Frequency Aggregator Total Global 114684 C=0.995379 G=0.004621
Allele Frequency Aggregator European Sub 96934 C=0.99741 G=0.00259
Allele Frequency Aggregator Other Sub 8046 C=0.9930 G=0.0070
Allele Frequency Aggregator African Sub 4374 C=0.9556 G=0.0444
Allele Frequency Aggregator Asian Sub 3322 C=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 946 C=0.993 G=0.007
Allele Frequency Aggregator Latin American 1 Sub 788 C=0.973 G=0.027
Allele Frequency Aggregator South Asian Sub 274 C=0.996 G=0.004
The PAGE Study Global Study-wide 77606 C=0.97386 G=0.02614
The PAGE Study AfricanAmerican Sub 31852 C=0.94945 G=0.05055
The PAGE Study Mexican Sub 10734 C=0.99497 G=0.00503
The PAGE Study Asian Sub 8222 C=0.9995 G=0.0005
The PAGE Study PuertoRican Sub 7858 C=0.9835 G=0.0165
The PAGE Study NativeHawaiian Sub 4448 C=0.9978 G=0.0022
The PAGE Study Cuban Sub 4208 C=0.9874 G=0.0126
The PAGE Study Dominican Sub 3786 C=0.9757 G=0.0243
The PAGE Study CentralAmerican Sub 2434 C=0.9869 G=0.0131
The PAGE Study SouthAmerican Sub 1980 C=0.9894 G=0.0106
The PAGE Study NativeAmerican Sub 1256 C=0.9857 G=0.0143
The PAGE Study SouthAsian Sub 828 C=0.994 G=0.006
GO Exome Sequencing Project Global Study-wide 12994 C=0.98184 G=0.01816
GO Exome Sequencing Project European American Sub 8600 C=0.9984 G=0.0016
GO Exome Sequencing Project African American Sub 4394 C=0.9495 G=0.0505
1000Genomes_30x Global Study-wide 6404 C=0.9802 G=0.0198
1000Genomes_30x African Sub 1786 C=0.9373 G=0.0627
1000Genomes_30x Europe Sub 1266 C=0.9968 G=0.0032
1000Genomes_30x South Asian Sub 1202 C=0.9942 G=0.0058
1000Genomes_30x East Asian Sub 1170 C=1.0000 G=0.0000
1000Genomes_30x American Sub 980 C=0.996 G=0.004
1000Genomes Global Study-wide 5008 C=0.9820 G=0.0180
1000Genomes African Sub 1322 C=0.9410 G=0.0590
1000Genomes East Asian Sub 1008 C=1.0000 G=0.0000
1000Genomes Europe Sub 1006 C=0.9970 G=0.0030
1000Genomes South Asian Sub 978 C=0.994 G=0.006
1000Genomes American Sub 694 C=0.996 G=0.004
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9996 G=0.0004
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9982 G=0.0018
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9989 G=0.0011
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.999 G=0.001
Qatari Global Study-wide 216 C=0.981 G=0.019
SGDP_PRJ Global Study-wide 6 C=0.5 G=0.5
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 16 NC_000016.10:g.3590814C>G
GRCh38.p14 chr 16 NC_000016.10:g.3590814C>T
GRCh37.p13 chr 16 NC_000016.9:g.3640815C>G
GRCh37.p13 chr 16 NC_000016.9:g.3640815C>T
SLX4 RefSeqGene (LRG_503) NG_028123.1:g.25771G>C
SLX4 RefSeqGene (LRG_503) NG_028123.1:g.25771G>A
Gene: SLX4, SLX4 structure-specific endonuclease subunit (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SLX4 transcript NM_032444.4:c.2824G>C E [GAG] > Q [CAG] Coding Sequence Variant
structure-specific endonuclease subunit SLX4 NP_115820.2:p.Glu942Gln E (Glu) > Q (Gln) Missense Variant
SLX4 transcript NM_032444.4:c.2824G>A E [GAG] > K [AAG] Coding Sequence Variant
structure-specific endonuclease subunit SLX4 NP_115820.2:p.Glu942Lys E (Glu) > K (Lys) Missense Variant
SLX4 transcript variant X1 XM_024450471.2:c.2824G>C E [GAG] > Q [CAG] Coding Sequence Variant
structure-specific endonuclease subunit SLX4 isoform X1 XP_024306239.1:p.Glu942Gln E (Glu) > Q (Gln) Missense Variant
SLX4 transcript variant X1 XM_024450471.2:c.2824G>A E [GAG] > K [AAG] Coding Sequence Variant
structure-specific endonuclease subunit SLX4 isoform X1 XP_024306239.1:p.Glu942Lys E (Glu) > K (Lys) Missense Variant
SLX4 transcript variant X2 XM_011522715.4:c.2824G>C E [GAG] > Q [CAG] Coding Sequence Variant
structure-specific endonuclease subunit SLX4 isoform X2 XP_011521017.1:p.Glu942Gln E (Glu) > Q (Gln) Missense Variant
SLX4 transcript variant X2 XM_011522715.4:c.2824G>A E [GAG] > K [AAG] Coding Sequence Variant
structure-specific endonuclease subunit SLX4 isoform X2 XP_011521017.1:p.Glu942Lys E (Glu) > K (Lys) Missense Variant
SLX4 transcript variant X4 XM_047434801.1:c.1822G>C E [GAG] > Q [CAG] Coding Sequence Variant
structure-specific endonuclease subunit SLX4 isoform X3 XP_047290757.1:p.Glu608Gln E (Glu) > Q (Gln) Missense Variant
SLX4 transcript variant X4 XM_047434801.1:c.1822G>A E [GAG] > K [AAG] Coding Sequence Variant
structure-specific endonuclease subunit SLX4 isoform X3 XP_047290757.1:p.Glu608Lys E (Glu) > K (Lys) Missense Variant
SLX4 transcript variant X3 XR_007064923.1:n.3473G>C N/A Non Coding Transcript Variant
SLX4 transcript variant X3 XR_007064923.1:n.3473G>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.

Allele: G (allele ID: 236960 )
ClinVar Accession Disease Names Clinical Significance
RCV000224941.5 not provided Benign-Likely-Benign
RCV000244058.3 not specified Benign
RCV000358566.9 Fanconi anemia Benign
RCV001094388.2 Fanconi anemia complementation group P 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= G T
GRCh38.p14 chr 16 NC_000016.10:g.3590814= NC_000016.10:g.3590814C>G NC_000016.10:g.3590814C>T
GRCh37.p13 chr 16 NC_000016.9:g.3640815= NC_000016.9:g.3640815C>G NC_000016.9:g.3640815C>T
SLX4 RefSeqGene (LRG_503) NG_028123.1:g.25771= NG_028123.1:g.25771G>C NG_028123.1:g.25771G>A
SLX4 transcript NM_032444.4:c.2824= NM_032444.4:c.2824G>C NM_032444.4:c.2824G>A
SLX4 transcript NM_032444.3:c.2824= NM_032444.3:c.2824G>C NM_032444.3:c.2824G>A
SLX4 transcript NM_032444.2:c.2824= NM_032444.2:c.2824G>C NM_032444.2:c.2824G>A
SLX4 transcript variant X2 XM_011522715.4:c.2824= XM_011522715.4:c.2824G>C XM_011522715.4:c.2824G>A
SLX4 transcript variant X2 XM_011522715.3:c.2824= XM_011522715.3:c.2824G>C XM_011522715.3:c.2824G>A
SLX4 transcript variant X1 XM_011522715.2:c.2824= XM_011522715.2:c.2824G>C XM_011522715.2:c.2824G>A
SLX4 transcript variant X1 XM_011522715.1:c.2824= XM_011522715.1:c.2824G>C XM_011522715.1:c.2824G>A
SLX4 transcript variant X1 XM_024450471.2:c.2824= XM_024450471.2:c.2824G>C XM_024450471.2:c.2824G>A
SLX4 transcript variant X1 XM_024450471.1:c.2824= XM_024450471.1:c.2824G>C XM_024450471.1:c.2824G>A
SLX4 transcript variant X4 XM_047434801.1:c.1822= XM_047434801.1:c.1822G>C XM_047434801.1:c.1822G>A
SLX4 transcript variant X3 XR_007064923.1:n.3473= XR_007064923.1:n.3473G>C XR_007064923.1:n.3473G>A
structure-specific endonuclease subunit SLX4 NP_115820.2:p.Glu942= NP_115820.2:p.Glu942Gln NP_115820.2:p.Glu942Lys
structure-specific endonuclease subunit SLX4 isoform X2 XP_011521017.1:p.Glu942= XP_011521017.1:p.Glu942Gln XP_011521017.1:p.Glu942Lys
structure-specific endonuclease subunit SLX4 isoform X1 XP_024306239.1:p.Glu942= XP_024306239.1:p.Glu942Gln XP_024306239.1:p.Glu942Lys
structure-specific endonuclease subunit SLX4 isoform X3 XP_047290757.1:p.Glu608= XP_047290757.1:p.Glu608Gln XP_047290757.1:p.Glu608Lys
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#.

59 SubSNP, 17 Frequency, 4 ClinVar submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss227100924 Jul 14, 2010 (132)
2 NHLBI-ESP ss342418926 May 09, 2011 (134)
3 1000GENOMES ss491095965 May 04, 2012 (137)
4 EXOME_CHIP ss491503520 May 04, 2012 (137)
5 CLINSEQ_SNP ss491712026 May 04, 2012 (137)
6 ILLUMINA ss534146234 Sep 08, 2015 (146)
7 TISHKOFF ss564729582 Apr 25, 2013 (138)
8 EVA-GONL ss992205685 Aug 21, 2014 (142)
9 JMKIDD_LAB ss1067558508 Aug 21, 2014 (142)
10 1000GENOMES ss1355088297 Aug 21, 2014 (142)
11 EVA_UK10K_ALSPAC ss1633851683 Apr 01, 2015 (144)
12 EVA_UK10K_TWINSUK ss1676845716 Apr 01, 2015 (144)
13 EVA_EXAC ss1692122029 Apr 01, 2015 (144)
14 EVA_EXAC ss1692122030 Apr 01, 2015 (144)
15 EVA_DECODE ss1696238505 Apr 01, 2015 (144)
16 ILLUMINA ss1752191364 Sep 08, 2015 (146)
17 HAMMER_LAB ss1808385064 Sep 08, 2015 (146)
18 ILLUMINA ss1917903783 Feb 12, 2016 (147)
19 WEILL_CORNELL_DGM ss1935614674 Feb 12, 2016 (147)
20 ILLUMINA ss1946407260 Feb 12, 2016 (147)
21 ILLUMINA ss1959653069 Feb 12, 2016 (147)
22 HUMAN_LONGEVITY ss2210034948 Dec 20, 2016 (150)
23 GNOMAD ss2741701224 Nov 08, 2017 (151)
24 GNOMAD ss2749450663 Nov 08, 2017 (151)
25 GNOMAD ss2939519953 Nov 08, 2017 (151)
26 AFFY ss2985057708 Nov 08, 2017 (151)
27 ILLUMINA ss3021677506 Nov 08, 2017 (151)
28 ILLUMINA ss3627461384 Oct 12, 2018 (152)
29 ILLUMINA ss3634628976 Oct 12, 2018 (152)
30 ILLUMINA ss3640336296 Oct 12, 2018 (152)
31 ILLUMINA ss3644660326 Oct 12, 2018 (152)
32 ILLUMINA ss3652081370 Oct 12, 2018 (152)
33 ILLUMINA ss3653830173 Oct 12, 2018 (152)
34 EGCUT_WGS ss3681073687 Jul 13, 2019 (153)
35 EVA_DECODE ss3698697490 Jul 13, 2019 (153)
36 ILLUMINA ss3744427947 Jul 13, 2019 (153)
37 ILLUMINA ss3744929458 Jul 13, 2019 (153)
38 PAGE_CC ss3771861310 Jul 13, 2019 (153)
39 ILLUMINA ss3772427853 Jul 13, 2019 (153)
40 KHV_HUMAN_GENOMES ss3818893152 Jul 13, 2019 (153)
41 EVA ss3824980663 Apr 27, 2020 (154)
42 EVA ss3825872546 Apr 27, 2020 (154)
43 SGDP_PRJ ss3883787168 Apr 27, 2020 (154)
44 FSA-LAB ss3984086215 Apr 26, 2021 (155)
45 EVA ss3986673421 Apr 26, 2021 (155)
46 TOPMED ss5005356356 Apr 26, 2021 (155)
47 1000G_HIGH_COVERAGE ss5299879361 Oct 17, 2022 (156)
48 EVA ss5315817876 Oct 17, 2022 (156)
49 EVA ss5421854378 Oct 17, 2022 (156)
50 HUGCELL_USP ss5493432824 Oct 17, 2022 (156)
51 EVA ss5511544817 Oct 17, 2022 (156)
52 1000G_HIGH_COVERAGE ss5601985341 Oct 17, 2022 (156)
53 SANFORD_IMAGENETICS ss5658320000 Oct 17, 2022 (156)
54 EVA ss5846004634 Oct 17, 2022 (156)
55 EVA ss5847761120 Oct 17, 2022 (156)
56 EVA ss5848417077 Oct 17, 2022 (156)
57 EVA ss5897992999 Oct 17, 2022 (156)
58 EVA ss5936239857 Oct 17, 2022 (156)
59 EVA ss5949743580 Oct 17, 2022 (156)
60 1000Genomes NC_000016.9 - 3640815 Oct 12, 2018 (152)
61 1000Genomes_30x NC_000016.10 - 3590814 Oct 17, 2022 (156)
62 The Avon Longitudinal Study of Parents and Children NC_000016.9 - 3640815 Oct 12, 2018 (152)
63 Genetic variation in the Estonian population NC_000016.9 - 3640815 Oct 12, 2018 (152)
64 ExAC

Submission ignored due to conflicting rows:
Row 2516494 (NC_000016.9:3640814:C:C 120097/121020, NC_000016.9:3640814:C:G 923/121020)
Row 2516495 (NC_000016.9:3640814:C:C 121019/121020, NC_000016.9:3640814:C:T 1/121020)

- Oct 12, 2018 (152)
65 ExAC

Submission ignored due to conflicting rows:
Row 2516494 (NC_000016.9:3640814:C:C 120097/121020, NC_000016.9:3640814:C:G 923/121020)
Row 2516495 (NC_000016.9:3640814:C:C 121019/121020, NC_000016.9:3640814:C:T 1/121020)

- Oct 12, 2018 (152)
66 gnomAD - Genomes NC_000016.10 - 3590814 Apr 26, 2021 (155)
67 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 10975685 (NC_000016.9:3640814:C:C 249635/251264, NC_000016.9:3640814:C:G 1629/251264)
Row 10975686 (NC_000016.9:3640814:C:C 251263/251264, NC_000016.9:3640814:C:T 1/251264)

- Jul 13, 2019 (153)
68 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 10975685 (NC_000016.9:3640814:C:C 249635/251264, NC_000016.9:3640814:C:G 1629/251264)
Row 10975686 (NC_000016.9:3640814:C:C 251263/251264, NC_000016.9:3640814:C:T 1/251264)

- Jul 13, 2019 (153)
69 GO Exome Sequencing Project NC_000016.9 - 3640815 Oct 12, 2018 (152)
70 Genome of the Netherlands Release 5 NC_000016.9 - 3640815 Apr 27, 2020 (154)
71 The PAGE Study NC_000016.10 - 3590814 Jul 13, 2019 (153)
72 Qatari NC_000016.9 - 3640815 Apr 27, 2020 (154)
73 SGDP_PRJ NC_000016.9 - 3640815 Apr 27, 2020 (154)
74 TopMed NC_000016.10 - 3590814 Apr 26, 2021 (155)
75 UK 10K study - Twins NC_000016.9 - 3640815 Oct 12, 2018 (152)
76 ALFA NC_000016.10 - 3590814 Apr 26, 2021 (155)
77 ClinVar RCV000224941.5 Oct 17, 2022 (156)
78 ClinVar RCV000244058.3 Oct 17, 2022 (156)
79 ClinVar RCV000358566.9 Oct 17, 2022 (156)
80 ClinVar RCV001094388.2 Oct 17, 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
ss491712026, ss1696238505 NC_000016.8:3580815:C:G NC_000016.10:3590813:C:G (self)
68216695, 37874204, 26811935, 1437873, 16896669, 17656596, 35804148, 37874204, ss227100924, ss342418926, ss491095965, ss491503520, ss534146234, ss564729582, ss992205685, ss1067558508, ss1355088297, ss1633851683, ss1676845716, ss1692122029, ss1752191364, ss1808385064, ss1917903783, ss1935614674, ss1946407260, ss1959653069, ss2741701224, ss2749450663, ss2939519953, ss2985057708, ss3021677506, ss3627461384, ss3634628976, ss3640336296, ss3644660326, ss3652081370, ss3653830173, ss3681073687, ss3744427947, ss3744929458, ss3772427853, ss3824980663, ss3825872546, ss3883787168, ss3984086215, ss3986673421, ss5315817876, ss5421854378, ss5511544817, ss5658320000, ss5846004634, ss5847761120, ss5848417077, ss5936239857, ss5949743580 NC_000016.9:3640814:C:G NC_000016.10:3590813:C:G (self)
RCV000224941.5, RCV000244058.3, RCV000358566.9, RCV001094388.2, 89511276, 480794089, 1082779, 220902017, 14462953674, ss2210034948, ss3698697490, ss3771861310, ss3818893152, ss5005356356, ss5299879361, ss5493432824, ss5601985341, ss5897992999 NC_000016.10:3590813:C:G NC_000016.10:3590813:C:G (self)
ss1692122030, ss2741701224, ss5936239857 NC_000016.9:3640814:C:T NC_000016.10:3590813: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.

1 citation for rs114014006
PMID Title Author Year Journal
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