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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.

rs1456737

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chrX:32207138 (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
A>C / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.47212 (59283/125568, TOPMED)
C=0.4556 (9737/21372, GnomAD)
A=0.463 (1748/3775, 1000G) (+ 2 more)
C=0.486 (1802/3708, TWINSUK)
C=0.488 (1411/2889, ALSPAC)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
DMD : Intron Variant
Publications
0 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.32207138A>C
GRCh38.p7 chr X NC_000023.11:g.32207138A>T
GRCh37.p13 chr X NC_000023.10:g.32225255A>C
GRCh37.p13 chr X NC_000023.10:g.32225255A>T
DMD RefSeqGene (LRG_199) NG_012232.1:g.1137472T>G
DMD RefSeqGene (LRG_199) NG_012232.1:g.1137472T>A
Gene: DMD, dystrophin (minus strand)
Molecule type Change Amino acid[Codon] SO Term
DMD transcript variant Dp427c NM_000109.3:c. N/A Intron Variant
DMD transcript variant Dp427m NM_004006.2:c. N/A Intron Variant
DMD transcript variant Dp427p1 NM_004009.3:c. N/A Intron Variant
DMD transcript variant Dp427p2 NM_004010.3:c. N/A Intron Variant
DMD transcript variant Dp260-1 NM_004011.3:c. N/A Intron Variant
DMD transcript variant Dp260-2 NM_004012.3:c. N/A Intron Variant
DMD transcript variant Dp140 NM_004013.2:c. N/A Genic Upstream Transcript Variant
DMD transcript variant Dp116 NM_004014.2:c. N/A Genic Upstream Transcript Variant
DMD transcript variant Dp71 NM_004015.2:c. N/A Genic Upstream Transcript Variant
DMD transcript variant Dp71b NM_004016.2:c. N/A Genic Upstream Transcript Variant
DMD transcript variant Dp71a NM_004017.2:c. N/A Genic Upstream Transcript Variant
DMD transcript variant Dp71ab NM_004018.2:c. N/A Genic Upstream Transcript Variant
DMD transcript variant Dp40 NM_004019.2:c. N/A Genic Upstream Transcript Variant
DMD transcript variant Dp140c NM_004020.3:c. N/A Genic Upstream Transcript Variant
DMD transcript variant Dp140b NM_004021.2:c. N/A Genic Upstream Transcript Variant
DMD transcript variant D140ab NM_004022.2:c. N/A Genic Upstream Transcript Variant
DMD transcript variant Dp140bc NM_004023.2:c. N/A Genic Upstream Transcript Variant
DMD transcript variant X1 XM_006724468.2:c. N/A Intron Variant
DMD transcript variant X2 XM_006724469.3:c. N/A Intron Variant
DMD transcript variant X3 XM_006724470.3:c. N/A Intron Variant
DMD transcript variant X6 XM_006724473.2:c. N/A Intron Variant
DMD transcript variant X7 XM_006724474.3:c. N/A Intron Variant
DMD transcript variant X8 XM_006724475.2:c. N/A Intron Variant
DMD transcript variant X5 XM_011545467.1:c. N/A Intron Variant
DMD transcript variant X9 XM_011545468.2:c. N/A Intron Variant
DMD transcript variant X4 XM_017029328.1:c. N/A Intron Variant
DMD transcript variant X10 XM_017029329.1:c. N/A Intron Variant
DMD transcript variant X11 XM_017029330.1:c. N/A Intron Variant
DMD transcript variant X13 XM_017029331.1:c. N/A Intron Variant
DMD transcript variant X12 XM_011545469.1:c. N/A Genic Downstream 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

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
Trans-Omics for Precision Medicine Global Study-wide 125568 A=0.52788 C=0.47212
The Genome Aggregation Database Global Study-wide 21372 A=0.5444 T=0.0000, C=0.4556
The Genome Aggregation Database European Sub 13060 A=0.5241 T=0.0000, C=0.4759
The Genome Aggregation Database African Sub 5808 A=0.675 T=0.000, C=0.325
The Genome Aggregation Database East Asian Sub 1004 A=0.163 T=0.001, C=0.836
The Genome Aggregation Database Other Sub 707 A=0.53 T=0.00, C=0.47
The Genome Aggregation Database American Sub 613 A=0.40 T=0.00, C=0.60
The Genome Aggregation Database Ashkenazi Jewish Sub 180 A=0.47 T=0.00, C=0.53
1000Genomes Global Study-wide 3775 A=0.463 C=0.537
1000Genomes African Sub 1003 A=0.673 C=0.327
1000Genomes Europe Sub 766 A=0.55 C=0.45
1000Genomes East Asian Sub 764 A=0.15 C=0.85
1000Genomes South Asian Sub 718 A=0.44 C=0.56
1000Genomes American Sub 524 A=0.42 C=0.58
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.514 C=0.486
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 2889 A=0.512 C=0.488
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 A= C T Note
GRCh38.p7 chr X NC_000023.11:g.32...

NC_000023.11:g.32207138A=

NC_000023.11:g.32...

NC_000023.11:g.32207138A>C

NC_000023.11:g.32...

NC_000023.11:g.32207138A>T

GRCh37.p13 chr X NC_000023.10:g.32...

NC_000023.10:g.32225255A=

NC_000023.10:g.32...

NC_000023.10:g.32225255A>C

NC_000023.10:g.32...

NC_000023.10:g.32225255A>T

DMD RefSeqGene (LRG_199) NG_012232.1:g.113...

NG_012232.1:g.1137472T=

NG_012232.1:g.113...

NG_012232.1:g.1137472T>G

NG_012232.1:g.113...

NG_012232.1:g.1137472T>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#.

5 Frequency, 77 SubSNP submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2274492 Oct 23, 2000 (88)
2 SC_JCM ss3791820 Sep 28, 2001 (100)
3 PERLEGEN ss24724424 Sep 20, 2004 (123)
4 ABI ss43627677 Mar 15, 2006 (126)
5 ILLUMINA ss66576244 Nov 30, 2006 (127)
6 ILLUMINA ss67108868 Nov 30, 2006 (127)
7 ILLUMINA ss67445428 Nov 30, 2006 (127)
8 PERLEGEN ss69260220 May 17, 2007 (127)
9 ILLUMINA ss70434116 May 17, 2007 (127)
10 ILLUMINA ss70620291 May 25, 2008 (130)
11 ILLUMINA ss71168912 May 17, 2007 (127)
12 ILLUMINA ss74940203 Dec 07, 2007 (129)
13 AFFY ss76623710 Dec 07, 2007 (129)
14 KRIBB_YJKIM ss83783055 Dec 15, 2007 (130)
15 BGI ss105723935 Feb 05, 2009 (130)
16 1000GENOMES ss112841061 Jan 25, 2009 (130)
17 1000GENOMES ss114583313 Jan 25, 2009 (130)
18 ILLUMINA ss121704883 Dec 01, 2009 (131)
19 ILLUMINA ss153448832 Dec 01, 2009 (131)
20 GMI ss157416304 Dec 01, 2009 (131)
21 ILLUMINA ss159272182 Dec 01, 2009 (131)
22 ILLUMINA ss160356342 Dec 01, 2009 (131)
23 COMPLETE_GENOMICS ss163078643 Jul 04, 2010 (132)
24 COMPLETE_GENOMICS ss164692093 Jul 04, 2010 (132)
25 COMPLETE_GENOMICS ss166164112 Jul 04, 2010 (132)
26 ILLUMINA ss170530490 Jul 04, 2010 (132)
27 ILLUMINA ss172516084 Jul 04, 2010 (132)
28 BUSHMAN ss204201686 Jul 04, 2010 (132)
29 BL ss255959250 May 09, 2011 (134)
30 GMI ss283725478 May 04, 2012 (137)
31 1000GENOMES ss341401372 May 09, 2011 (134)
32 ILLUMINA ss479983697 May 04, 2012 (137)
33 ILLUMINA ss479992392 May 04, 2012 (137)
34 ILLUMINA ss480643116 Sep 08, 2015 (146)
35 ILLUMINA ss484790040 May 04, 2012 (137)
36 ILLUMINA ss536875112 Sep 08, 2015 (146)
37 TISHKOFF ss566820999 Apr 25, 2013 (138)
38 SSMP ss662753695 Apr 25, 2013 (138)
39 ILLUMINA ss778807726 Sep 08, 2015 (146)
40 ILLUMINA ss782841675 Sep 08, 2015 (146)
41 ILLUMINA ss783806342 Sep 08, 2015 (146)
42 ILLUMINA ss825403390 Jul 19, 2016 (147)
43 ILLUMINA ss832095401 Sep 08, 2015 (146)
44 ILLUMINA ss834267954 Sep 08, 2015 (146)
45 JMKIDD_LAB ss1082859392 Aug 21, 2014 (142)
46 DDI ss1432024301 Apr 01, 2015 (144)
47 1000GENOMES ss1553990700 Apr 01, 2015 (144)
48 EVA_GENOME_DK ss1583362631 Apr 01, 2015 (144)
49 EVA_UK10K_ALSPAC ss1640558894 Apr 01, 2015 (144)
50 EVA_UK10K_TWINSUK ss1683552927 Apr 01, 2015 (144)
51 ILLUMINA ss1752804992 Sep 08, 2015 (146)
52 WEILL_CORNELL_DGM ss1939251713 Feb 12, 2016 (147)
53 GENOMED ss1971362292 Jul 19, 2016 (147)
54 USC_VALOUEV ss2159005170 Dec 20, 2016 (150)
55 HUMAN_LONGEVITY ss2316572111 Dec 20, 2016 (150)
56 SYSTEMSBIOZJU ss2629686131 Nov 08, 2017 (151)
57 ILLUMINA ss2634950942 Nov 08, 2017 (151)
58 GRF ss2710130342 Nov 08, 2017 (151)
59 GNOMAD ss2977697279 Nov 08, 2017 (151)
60 AFFY ss2986129311 Nov 08, 2017 (151)
61 SWEGEN ss3019805729 Nov 08, 2017 (151)
62 ILLUMINA ss3022999499 Nov 08, 2017 (151)
63 BIOINF_KMB_FNS_UNIBA ss3029029550 Nov 08, 2017 (151)
64 TOPMED ss3608218507 Nov 08, 2017 (151)
65 ILLUMINA ss3630416274 Jul 20, 2018 (151)
66 ILLUMINA ss3632837543 Jul 20, 2018 (151)
67 ILLUMINA ss3633556449 Jul 20, 2018 (151)
68 ILLUMINA ss3634286152 Jul 20, 2018 (151)
69 ILLUMINA ss3635246034 Jul 20, 2018 (151)
70 ILLUMINA ss3635963545 Jul 20, 2018 (151)
71 ILLUMINA ss3636994370 Jul 20, 2018 (151)
72 ILLUMINA ss3637717002 Jul 20, 2018 (151)
73 ILLUMINA ss3638853086 Jul 20, 2018 (151)
74 ILLUMINA ss3639430636 Jul 20, 2018 (151)
75 ILLUMINA ss3639750267 Jul 20, 2018 (151)
76 ILLUMINA ss3640953516 Jul 20, 2018 (151)
77 ILLUMINA ss3643777540 Jul 20, 2018 (151)
78 1000Genomes NC_000023.10 - 32225255 Jul 20, 2018 (151)
79 The Avon Longitudinal Study of Parents and Children NC_000023.10 - 32225255 Jul 20, 2018 (151)
80 The Genome Aggregation Database NC_000023.10 - 32225255 Jul 20, 2018 (151)
81 Trans-Omics for Precision Medicine NC_000023.11 - 32207138 Jul 20, 2018 (151)
82 UK 10K study - Twins NC_000023.10 - 32225255 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)
rs17243298 Oct 07, 2004 (123)
rs59324164 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss3639430636, ss3639750267 NC_000023.8:31984911:A= NC_000023.11:32207137:A=
ss112841061, ss114583313, ss163078643, ss164692093, ss166164112, ss204201686, ss255959250, ss283725478, ss479983697, ss825403390, ss3643777540 NC_000023.9:32135175:A= NC_000023.11:32207137:A= (self)
81969816, 45270934, 227096495, 45270934, ss341401372, ss479992392, ss480643116, ss484790040, ss536875112, ss566820999, ss662753695, ss778807726, ss782841675, ss783806342, ss832095401, ss834267954, ss1082859392, ss1432024301, ss1553990700, ss1583362631, ss1640558894, ss1683552927, ss1752804992, ss1939251713, ss1971362292, ss2159005170, ss2629686131, ss2634950942, ss2710130342, ss2977697279, ss2986129311, ss3019805729, ss3022999499, ss3630416274, ss3632837543, ss3633556449, ss3634286152, ss3635246034, ss3635963545, ss3636994370, ss3637717002, ss3638853086, ss3640953516 NC_000023.10:32225254:A= NC_000023.11:32207137:A= (self)
426286684, ss2316572111, ss3029029550, ss3608218507 NC_000023.11:32207137:A= NC_000023.11:32207137:A= (self)
ss2274492, ss3791820, ss24724424, ss43627677, ss66576244, ss67108868, ss67445428, ss69260220, ss70434116, ss70620291, ss71168912, ss74940203, ss76623710, ss83783055, ss105723935, ss121704883, ss153448832, ss157416304, ss159272182, ss160356342, ss170530490, ss172516084 NT_167197.1:30107016:A= NC_000023.11:32207137:A= (self)
ss3639430636, ss3639750267 NC_000023.8:31984911:A>C NC_000023.11:32207137:A>C
ss112841061, ss114583313, ss163078643, ss164692093, ss166164112, ss204201686, ss255959250, ss283725478, ss479983697, ss825403390, ss3643777540 NC_000023.9:32135175:A>C NC_000023.11:32207137:A>C (self)
81969816, 45270934, 227096495, 45270934, ss341401372, ss479992392, ss480643116, ss484790040, ss536875112, ss566820999, ss662753695, ss778807726, ss782841675, ss783806342, ss832095401, ss834267954, ss1082859392, ss1432024301, ss1553990700, ss1583362631, ss1640558894, ss1683552927, ss1752804992, ss1939251713, ss1971362292, ss2159005170, ss2629686131, ss2634950942, ss2710130342, ss2977697279, ss2986129311, ss3019805729, ss3022999499, ss3630416274, ss3632837543, ss3633556449, ss3634286152, ss3635246034, ss3635963545, ss3636994370, ss3637717002, ss3638853086, ss3640953516 NC_000023.10:32225254:A>C NC_000023.11:32207137:A>C (self)
426286684, ss2316572111, ss3029029550, ss3608218507 NC_000023.11:32207137:A>C NC_000023.11:32207137:A>C (self)
ss2274492, ss3791820, ss24724424, ss43627677, ss66576244, ss67108868, ss67445428, ss69260220, ss70434116, ss70620291, ss71168912, ss74940203, ss76623710, ss83783055, ss105723935, ss121704883, ss153448832, ss157416304, ss159272182, ss160356342, ss170530490, ss172516084 NT_167197.1:30107016:A>C NC_000023.11:32207137:A>C (self)
227096495, ss2977697279 NC_000023.10:32225254:A>T NC_000023.11:32207137:A>T (self)
Help

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

No publications for rs1456737

Genomic regions, transcripts, and products
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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