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dbSNP Short Genetic Variations

Reference SNP (rs) Report

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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.

rs3027415

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chrX:43755194 (GRCh38.p7) 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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.15340 (19262/125568, TOPMED)
C=0.1567 (3386/21610, GnomAD)
C=0.083 (313/3775, 1000G) (+ 2 more)
C=0.247 (915/3708, TWINSUK)
C=0.228 (659/2889, ALSPAC)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
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.p7 chr X NC_000023.11:g.43755194T>C
GRCh37.p13 chr X NC_000023.10:g.43614441T>C
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

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").

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Study Population Group Sample Size Ref Allele Alt Allele
Trans-Omics for Precision Medicine Global Study-wide 125568 T=0.84660 C=0.15340
The Genome Aggregation Database Global Study-wide 21610 T=0.8433 C=0.1567
The Genome Aggregation Database European Sub 13123 T=0.7812 C=0.2188
The Genome Aggregation Database African Sub 5923 T=0.952 C=0.048
The Genome Aggregation Database East Asian Sub 1038 T=0.977 C=0.023
The Genome Aggregation Database Other Sub 721 T=0.85 C=0.15
The Genome Aggregation Database American Sub 616 T=0.90 C=0.10
The Genome Aggregation Database Ashkenazi Jewish Sub 189 T=0.78 C=0.22
1000Genomes Global Study-wide 3775 T=0.917 C=0.083
1000Genomes African Sub 1003 T=0.970 C=0.030
1000Genomes Europe Sub 766 T=0.77 C=0.23
1000Genomes East Asian Sub 764 T=0.98 C=0.02
1000Genomes South Asian Sub 718 T=0.94 C=0.06
1000Genomes American Sub 524 T=0.90 C=0.10
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.753 C=0.247
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 2889 T=0.772 C=0.228
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 T= C Note
GRCh38.p7 chr X NC_000023.11:g.43755194T= NC_000023.11:g.43755194T>C
GRCh37.p13 chr X NC_000023.10:g.43614441T= NC_000023.10:g.43614441T>C
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#.

5 Frequency, 70 SubSNP submissions
No Submitter Submission ID Date (Build)
1 ACEVAN ss4258347 Jan 05, 2002 (102)
2 SC_SNP ss8177256 Apr 21, 2003 (114)
3 ILLUMINA ss66839613 Nov 29, 2006 (127)
4 ILLUMINA ss67288767 Nov 29, 2006 (127)
5 ILLUMINA ss67692032 Nov 29, 2006 (127)
6 PERLEGEN ss69261379 May 17, 2007 (127)
7 ILLUMINA ss70767340 May 24, 2008 (130)
8 ILLUMINA ss71342149 May 17, 2007 (127)
9 ILLUMINA ss75917391 Dec 07, 2007 (129)
10 ILLUMINA ss79157367 Dec 14, 2007 (130)
11 KRIBB_YJKIM ss84144518 Dec 14, 2007 (130)
12 ILLUMINA ss122164430 Dec 01, 2009 (131)
13 ILLUMINA ss154252276 Dec 01, 2009 (131)
14 ILLUMINA ss159429216 Dec 01, 2009 (131)
15 ILLUMINA ss160607853 Dec 01, 2009 (131)
16 COMPLETE_GENOMICS ss166214205 Jul 04, 2010 (132)
17 ILLUMINA ss171526271 Jul 04, 2010 (132)
18 ILLUMINA ss173555441 Jul 04, 2010 (132)
19 BL ss255983119 May 09, 2011 (134)
20 1000GENOMES ss466476887 Sep 17, 2011 (135)
21 ILLUMINA ss480744435 May 04, 2012 (137)
22 ILLUMINA ss480760274 May 04, 2012 (137)
23 ILLUMINA ss481645860 Sep 08, 2015 (146)
24 ILLUMINA ss482663225 May 04, 2012 (137)
25 ILLUMINA ss484377024 May 04, 2012 (137)
26 ILLUMINA ss485166975 May 04, 2012 (137)
27 ILLUMINA ss537158724 Sep 08, 2015 (146)
28 TISHKOFF ss566850916 Apr 25, 2013 (138)
29 ILLUMINA ss778514969 Sep 08, 2015 (146)
30 ILLUMINA ss780046499 Aug 21, 2014 (142)
31 ILLUMINA ss781836163 Aug 21, 2014 (142)
32 ILLUMINA ss783029709 Sep 08, 2015 (146)
33 ILLUMINA ss783989434 Sep 08, 2015 (146)
34 ILLUMINA ss825487885 Apr 01, 2015 (144)
35 ILLUMINA ss832287319 Sep 08, 2015 (146)
36 ILLUMINA ss833971277 Sep 08, 2015 (146)
37 ILLUMINA ss835527300 Aug 21, 2014 (142)
38 JMKIDD_LAB ss1082896770 Aug 21, 2014 (142)
39 DDI ss1432035349 Apr 01, 2015 (144)
40 1000GENOMES ss1554248953 Apr 01, 2015 (144)
41 EVA_GENOME_DK ss1583381679 Apr 01, 2015 (144)
42 EVA_UK10K_ALSPAC ss1640681787 Apr 01, 2015 (144)
43 EVA_UK10K_TWINSUK ss1683675820 Apr 01, 2015 (144)
44 ILLUMINA ss1752807013 Sep 08, 2015 (146)
45 WEILL_CORNELL_DGM ss1939306080 Feb 12, 2016 (147)
46 USC_VALOUEV ss2159035154 Dec 20, 2016 (150)
47 HUMAN_LONGEVITY ss2317051232 Dec 20, 2016 (150)
48 ILLUMINA ss2634957238 Nov 08, 2017 (151)
49 ILLUMINA ss2634957239 Nov 08, 2017 (151)
50 ILLUMINA ss2635202237 Nov 08, 2017 (151)
51 GNOMAD ss2978335027 Nov 08, 2017 (151)
52 AFFY ss2986130273 Nov 08, 2017 (151)
53 SWEGEN ss3019897487 Nov 08, 2017 (151)
54 BIOINF_KMB_FNS_UNIBA ss3029042129 Nov 08, 2017 (151)
55 TOPMED ss3609751708 Nov 08, 2017 (151)
56 ILLUMINA ss3630426621 Jul 20, 2018 (151)
57 ILLUMINA ss3632843588 Jul 20, 2018 (151)
58 ILLUMINA ss3632843589 Jul 20, 2018 (151)
59 ILLUMINA ss3633557935 Jul 20, 2018 (151)
60 ILLUMINA ss3634287685 Jul 20, 2018 (151)
61 ILLUMINA ss3635247840 Jul 20, 2018 (151)
62 ILLUMINA ss3635965039 Jul 20, 2018 (151)
63 ILLUMINA ss3636996398 Jul 20, 2018 (151)
64 ILLUMINA ss3637718505 Jul 20, 2018 (151)
65 ILLUMINA ss3638856356 Jul 20, 2018 (151)
66 ILLUMINA ss3639431939 Jul 20, 2018 (151)
67 ILLUMINA ss3639751164 Jul 20, 2018 (151)
68 ILLUMINA ss3640955323 Jul 20, 2018 (151)
69 ILLUMINA ss3642732450 Jul 20, 2018 (151)
70 ILLUMINA ss3643780659 Jul 20, 2018 (151)
71 1000Genomes NC_000023.10 - 43614441 Jul 20, 2018 (151)
72 The Avon Longitudinal Study of Parents and Children NC_000023.10 - 43614441 Jul 20, 2018 (151)
73 The Genome Aggregation Database NC_000023.10 - 43614441 Jul 20, 2018 (151)
74 Trans-Omics for Precision Medicine NC_000023.11 - 43755194 Jul 20, 2018 (151)
75 UK 10K study - Twins NC_000023.10 - 43614441 Jul 20, 2018 (151)
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)
rs58066758 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss3639431939, ss3639751164 NC_000023.8:43370694:T= NC_000023.11:43755193:T=
ss166214205, ss255983119, ss480744435, ss484377024, ss825487885, ss2635202237, ss3643780659 NC_000023.9:43499384:T= NC_000023.11:43755193:T= (self)
82225715, 45404956, 227734243, 45404956, ss466476887, ss480760274, ss481645860, ss482663225, ss485166975, ss537158724, ss566850916, ss778514969, ss780046499, ss781836163, ss783029709, ss783989434, ss832287319, ss833971277, ss835527300, ss1082896770, ss1432035349, ss1554248953, ss1583381679, ss1640681787, ss1683675820, ss1752807013, ss1939306080, ss2159035154, ss2634957238, ss2634957239, ss2978335027, ss2986130273, ss3019897487, ss3630426621, ss3632843588, ss3632843589, ss3633557935, ss3634287685, ss3635247840, ss3635965039, ss3636996398, ss3637718505, ss3638856356, ss3640955323, ss3642732450 NC_000023.10:43614440:T= NC_000023.11:43755193:T= (self)
427555585, ss2317051232, ss3029042129, ss3609751708 NC_000023.11:43755193:T= NC_000023.11:43755193:T= (self)
ss4258347, ss8177256, ss66839613, ss67288767, ss67692032, ss69261379, ss70767340, ss71342149, ss75917391, ss79157367, ss84144518, ss122164430, ss154252276, ss159429216, ss160607853, ss171526271, ss173555441 NT_079573.4:6466184:T= NC_000023.11:43755193:T= (self)
ss3639431939, ss3639751164 NC_000023.8:43370694:T>C NC_000023.11:43755193:T>C
ss166214205, ss255983119, ss480744435, ss484377024, ss825487885, ss2635202237, ss3643780659 NC_000023.9:43499384:T>C NC_000023.11:43755193:T>C (self)
82225715, 45404956, 227734243, 45404956, ss466476887, ss480760274, ss481645860, ss482663225, ss485166975, ss537158724, ss566850916, ss778514969, ss780046499, ss781836163, ss783029709, ss783989434, ss832287319, ss833971277, ss835527300, ss1082896770, ss1432035349, ss1554248953, ss1583381679, ss1640681787, ss1683675820, ss1752807013, ss1939306080, ss2159035154, ss2634957238, ss2634957239, ss2978335027, ss2986130273, ss3019897487, ss3630426621, ss3632843588, ss3632843589, ss3633557935, ss3634287685, ss3635247840, ss3635965039, ss3636996398, ss3637718505, ss3638856356, ss3640955323, ss3642732450 NC_000023.10:43614440:T>C NC_000023.11:43755193:T>C (self)
427555585, ss2317051232, ss3029042129, ss3609751708 NC_000023.11:43755193:T>C NC_000023.11:43755193:T>C (self)
ss4258347, ss8177256, ss66839613, ss67288767, ss67692032, ss69261379, ss70767340, ss71342149, ss75917391, ss79157367, ss84144518, ss122164430, ss154252276, ss159429216, ss160607853, ss171526271, ss173555441 NT_079573.4:6466184:T>C NC_000023.11:43755193:T>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 rs3027415
PMID Title Author Year Journal
18937309 Sexually dimorphic effects of four genes (COMT, SLC6A2, MAOA, SLC6A4) in genetic associations of ADHD: a preliminary study. Biederman J et al. 2008 American journal of medical genetics. Part B, Neuropsychiatric genetics
22021758 Interaction of early environment, gender and genes of monoamine neurotransmission in the aetiology of depression in a large population-based Finnish birth cohort. Nyman ES et al. 2011 BMJ open

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: 0.1.4.post833+d3ba21e