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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs11575543

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:50463171 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.055661 (14733/264690, TOPMED)
A=0.018835 (2758/146428, ALFA)
A=0.054156 (7592/140188, GnomAD) (+ 13 more)
A=0.00014 (4/28258, 14KJPN)
A=0.00018 (3/16758, 8.3KJPN)
A=0.0529 (339/6404, 1000G_30x)
A=0.0509 (255/5008, 1000G)
A=0.0201 (90/4480, Estonian)
A=0.0163 (63/3854, ALSPAC)
A=0.0121 (45/3708, TWINSUK)
A=0.0726 (106/1460, HapMap)
A=0.018 (18/998, GoNL)
A=0.027 (16/600, NorthernSweden)
A=0.021 (11/534, MGP)
A=0.032 (7/216, Qatari)
G=0.46 (12/26, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
DDC : Intron 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 146428 G=0.981165 A=0.018835, T=0.000000
European Sub 126316 G=0.984681 A=0.015319, T=0.000000
African Sub 6088 G=0.9006 A=0.0994, T=0.0000
African Others Sub 222 G=0.892 A=0.108, T=0.000
African American Sub 5866 G=0.9010 A=0.0990, T=0.0000
Asian Sub 630 G=1.000 A=0.000, T=0.000
East Asian Sub 498 G=1.000 A=0.000, T=0.000
Other Asian Sub 132 G=1.000 A=0.000, T=0.000
Latin American 1 Sub 744 G=0.984 A=0.016, T=0.000
Latin American 2 Sub 6312 G=0.9884 A=0.0116, T=0.0000
South Asian Sub 182 G=1.000 A=0.000, T=0.000
Other Sub 6156 G=0.9784 A=0.0216, T=0.0000


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=0.944339 A=0.055661
Allele Frequency Aggregator Total Global 146428 G=0.981165 A=0.018835, T=0.000000
Allele Frequency Aggregator European Sub 126316 G=0.984681 A=0.015319, T=0.000000
Allele Frequency Aggregator Latin American 2 Sub 6312 G=0.9884 A=0.0116, T=0.0000
Allele Frequency Aggregator Other Sub 6156 G=0.9784 A=0.0216, T=0.0000
Allele Frequency Aggregator African Sub 6088 G=0.9006 A=0.0994, T=0.0000
Allele Frequency Aggregator Latin American 1 Sub 744 G=0.984 A=0.016, T=0.000
Allele Frequency Aggregator Asian Sub 630 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 182 G=1.000 A=0.000, T=0.000
gnomAD - Genomes Global Study-wide 140188 G=0.945844 A=0.054156
gnomAD - Genomes European Sub 75934 G=0.98449 A=0.01551
gnomAD - Genomes African Sub 42004 G=0.85904 A=0.14096
gnomAD - Genomes American Sub 13648 G=0.97238 A=0.02762
gnomAD - Genomes Ashkenazi Jewish Sub 3318 G=0.9922 A=0.0078
gnomAD - Genomes East Asian Sub 3134 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2150 G=0.9581 A=0.0419
14KJPN JAPANESE Study-wide 28258 G=0.99986 A=0.00014
8.3KJPN JAPANESE Study-wide 16758 G=0.99982 A=0.00018
1000Genomes_30x Global Study-wide 6404 G=0.9471 A=0.0529
1000Genomes_30x African Sub 1786 G=0.8365 A=0.1635
1000Genomes_30x Europe Sub 1266 G=0.9850 A=0.0150
1000Genomes_30x South Asian Sub 1202 G=0.9900 A=0.0100
1000Genomes_30x East Asian Sub 1170 G=0.9991 A=0.0009
1000Genomes_30x American Sub 980 G=0.985 A=0.015
1000Genomes Global Study-wide 5008 G=0.9491 A=0.0509
1000Genomes African Sub 1322 G=0.8359 A=0.1641
1000Genomes East Asian Sub 1008 G=0.9990 A=0.0010
1000Genomes Europe Sub 1006 G=0.9841 A=0.0159
1000Genomes South Asian Sub 978 G=0.991 A=0.009
1000Genomes American Sub 694 G=0.983 A=0.017
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9799 A=0.0201
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9837 A=0.0163
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9879 A=0.0121
HapMap Global Study-wide 1460 G=0.9274 A=0.0726
HapMap African Sub 688 G=0.884 A=0.116
HapMap American Sub 596 G=0.958 A=0.042
HapMap Europe Sub 176 G=0.994 A=0.006
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.982 A=0.018
Northern Sweden ACPOP Study-wide 600 G=0.973 A=0.027
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.979 A=0.021
Qatari Global Study-wide 216 G=0.968 A=0.032
SGDP_PRJ Global Study-wide 26 G=0.46 A=0.54
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 7 NC_000007.14:g.50463171G>A
GRCh38.p14 chr 7 NC_000007.14:g.50463171G>T
GRCh37.p13 chr 7 NC_000007.13:g.50530869G>A
GRCh37.p13 chr 7 NC_000007.13:g.50530869G>T
DDC RefSeqGene NG_008742.1:g.107286C>T
DDC RefSeqGene NG_008742.1:g.107286C>A
Gene: DDC, dopa decarboxylase (minus strand)
Molecule type Change Amino acid[Codon] SO Term
DDC transcript variant 2 NM_000790.4:c.*18+42C>T N/A Intron Variant
DDC transcript variant 1 NM_001082971.2:c.*18+42C>T N/A Intron Variant
DDC transcript variant 3 NM_001242886.2:c.*18+42C>T N/A Intron Variant
DDC transcript variant 4 NM_001242887.2:c.*18+42C>T N/A Intron Variant
DDC transcript variant 5 NM_001242888.2:c.*18+42C>T N/A Intron Variant
DDC transcript variant 6 NM_001242889.2:c.*18+42C>T N/A Intron Variant
DDC transcript variant 7 NM_001242890.2:c. N/A Genic Downstream Transcript Variant
DDC transcript variant X2 XM_005271745.5:c.*18+42C>T N/A Intron Variant
DDC transcript variant X3 XM_047419932.1:c.*18+42C>T N/A Intron Variant
DDC transcript variant X1 XM_047419931.1: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.

Allele: A (allele ID: 1211946 )
ClinVar Accession Disease Names Clinical Significance
RCV001598467.3 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 G= A T
GRCh38.p14 chr 7 NC_000007.14:g.50463171= NC_000007.14:g.50463171G>A NC_000007.14:g.50463171G>T
GRCh37.p13 chr 7 NC_000007.13:g.50530869= NC_000007.13:g.50530869G>A NC_000007.13:g.50530869G>T
DDC RefSeqGene NG_008742.1:g.107286= NG_008742.1:g.107286C>T NG_008742.1:g.107286C>A
DDC transcript variant 2 NM_000790.3:c.*18+42= NM_000790.3:c.*18+42C>T NM_000790.3:c.*18+42C>A
DDC transcript variant 2 NM_000790.4:c.*18+42= NM_000790.4:c.*18+42C>T NM_000790.4:c.*18+42C>A
DDC transcript variant 1 NM_001082971.1:c.*18+42= NM_001082971.1:c.*18+42C>T NM_001082971.1:c.*18+42C>A
DDC transcript variant 1 NM_001082971.2:c.*18+42= NM_001082971.2:c.*18+42C>T NM_001082971.2:c.*18+42C>A
DDC transcript variant 3 NM_001242886.1:c.*18+42= NM_001242886.1:c.*18+42C>T NM_001242886.1:c.*18+42C>A
DDC transcript variant 3 NM_001242886.2:c.*18+42= NM_001242886.2:c.*18+42C>T NM_001242886.2:c.*18+42C>A
DDC transcript variant 4 NM_001242887.1:c.*18+42= NM_001242887.1:c.*18+42C>T NM_001242887.1:c.*18+42C>A
DDC transcript variant 4 NM_001242887.2:c.*18+42= NM_001242887.2:c.*18+42C>T NM_001242887.2:c.*18+42C>A
DDC transcript variant 5 NM_001242888.1:c.*18+42= NM_001242888.1:c.*18+42C>T NM_001242888.1:c.*18+42C>A
DDC transcript variant 5 NM_001242888.2:c.*18+42= NM_001242888.2:c.*18+42C>T NM_001242888.2:c.*18+42C>A
DDC transcript variant 6 NM_001242889.1:c.*18+42= NM_001242889.1:c.*18+42C>T NM_001242889.1:c.*18+42C>A
DDC transcript variant 6 NM_001242889.2:c.*18+42= NM_001242889.2:c.*18+42C>T NM_001242889.2:c.*18+42C>A
DDC transcript variant X1 XM_005271744.1:c.*18+42= XM_005271744.1:c.*18+42C>T XM_005271744.1:c.*18+42C>A
DDC transcript variant X2 XM_005271745.1:c.*18+42= XM_005271745.1:c.*18+42C>T XM_005271745.1:c.*18+42C>A
DDC transcript variant X2 XM_005271745.5:c.*18+42= XM_005271745.5:c.*18+42C>T XM_005271745.5:c.*18+42C>A
DDC transcript variant X3 XM_047419932.1:c.*18+42= XM_047419932.1:c.*18+42C>T XM_047419932.1:c.*18+42C>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#.

78 SubSNP, 16 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 EGP_SNPS ss16361540 Feb 28, 2004 (120)
2 ILLUMINA ss75038314 Dec 06, 2007 (129)
3 HGSV ss81394381 Dec 15, 2007 (130)
4 ILLUMINA-UK ss116076835 Feb 14, 2009 (130)
5 KRIBB_YJKIM ss119691230 Dec 01, 2009 (131)
6 ILLUMINA ss159981857 Dec 01, 2009 (131)
7 ILLUMINA ss171303551 Jul 04, 2010 (132)
8 BUSHMAN ss203309452 Jul 04, 2010 (132)
9 1000GENOMES ss212039821 Jul 14, 2010 (132)
10 1000GENOMES ss223068946 Jul 14, 2010 (132)
11 1000GENOMES ss233970962 Jul 15, 2010 (132)
12 ILLUMINA ss479529944 May 04, 2012 (137)
13 ILLUMINA ss479533771 May 04, 2012 (137)
14 ILLUMINA ss479993251 Sep 08, 2015 (146)
15 ILLUMINA ss484563936 May 04, 2012 (137)
16 ILLUMINA ss536699438 Sep 08, 2015 (146)
17 TISHKOFF ss559994942 Apr 25, 2013 (138)
18 ILLUMINA ss778384161 Sep 08, 2015 (146)
19 ILLUMINA ss782728675 Sep 08, 2015 (146)
20 ILLUMINA ss783695937 Sep 08, 2015 (146)
21 ILLUMINA ss831980391 Sep 08, 2015 (146)
22 ILLUMINA ss833839173 Sep 08, 2015 (146)
23 EVA-GONL ss984260486 Aug 21, 2014 (142)
24 JMKIDD_LAB ss1074597147 Aug 21, 2014 (142)
25 1000GENOMES ss1325069633 Aug 21, 2014 (142)
26 EVA_DECODE ss1593838577 Apr 01, 2015 (144)
27 EVA_UK10K_ALSPAC ss1618182252 Apr 01, 2015 (144)
28 EVA_UK10K_TWINSUK ss1661176285 Apr 01, 2015 (144)
29 EVA_MGP ss1711163198 Apr 01, 2015 (144)
30 EVA_SVP ss1712954786 Apr 01, 2015 (144)
31 ILLUMINA ss1752689225 Sep 08, 2015 (146)
32 HAMMER_LAB ss1804997236 Sep 08, 2015 (146)
33 WEILL_CORNELL_DGM ss1927504498 Feb 12, 2016 (147)
34 JJLAB ss2024436312 Sep 14, 2016 (149)
35 ILLUMINA ss2094975965 Dec 20, 2016 (150)
36 ILLUMINA ss2095199133 Dec 20, 2016 (150)
37 ILLUMINA ss2095199134 Dec 20, 2016 (150)
38 HUMAN_LONGEVITY ss2293922656 Dec 20, 2016 (150)
39 ILLUMINA ss2634605156 Nov 08, 2017 (151)
40 GNOMAD ss2852975183 Nov 08, 2017 (151)
41 SWEGEN ss3001092252 Nov 08, 2017 (151)
42 ILLUMINA ss3629815625 Oct 12, 2018 (152)
43 ILLUMINA ss3632512653 Oct 12, 2018 (152)
44 ILLUMINA ss3633463171 Oct 12, 2018 (152)
45 ILLUMINA ss3634188084 Oct 12, 2018 (152)
46 ILLUMINA ss3635121472 Oct 12, 2018 (152)
47 ILLUMINA ss3635867917 Oct 12, 2018 (152)
48 ILLUMINA ss3636853463 Oct 12, 2018 (152)
49 ILLUMINA ss3637620881 Oct 12, 2018 (152)
50 ILLUMINA ss3638697451 Oct 12, 2018 (152)
51 ILLUMINA ss3640828765 Oct 12, 2018 (152)
52 ILLUMINA ss3643633186 Oct 12, 2018 (152)
53 OMUKHERJEE_ADBS ss3646352726 Oct 12, 2018 (152)
54 ILLUMINA ss3653266270 Oct 12, 2018 (152)
55 ILLUMINA ss3653266271 Oct 12, 2018 (152)
56 EGCUT_WGS ss3669015179 Jul 13, 2019 (153)
57 EVA_DECODE ss3719664648 Jul 13, 2019 (153)
58 EVA_DECODE ss3719664649 Jul 13, 2019 (153)
59 ACPOP ss3734617206 Jul 13, 2019 (153)
60 ILLUMINA ss3745421520 Jul 13, 2019 (153)
61 ILLUMINA ss3772914453 Jul 13, 2019 (153)
62 KHV_HUMAN_GENOMES ss3809704905 Jul 13, 2019 (153)
63 EVA ss3825719953 Apr 26, 2020 (154)
64 SGDP_PRJ ss3867235875 Apr 26, 2020 (154)
65 EVA ss4017336065 Apr 27, 2021 (155)
66 TOPMED ss4745480513 Apr 27, 2021 (155)
67 TOMMO_GENOMICS ss5183084314 Apr 27, 2021 (155)
68 1000G_HIGH_COVERAGE ss5272823685 Oct 17, 2022 (156)
69 EVA ss5373466471 Oct 17, 2022 (156)
70 HUGCELL_USP ss5470001977 Oct 17, 2022 (156)
71 EVA ss5508951202 Oct 17, 2022 (156)
72 1000G_HIGH_COVERAGE ss5560966530 Oct 17, 2022 (156)
73 SANFORD_IMAGENETICS ss5642918172 Oct 17, 2022 (156)
74 TOMMO_GENOMICS ss5722901570 Oct 17, 2022 (156)
75 EVA ss5799724780 Oct 17, 2022 (156)
76 EVA ss5822802001 Oct 17, 2022 (156)
77 EVA ss5858848967 Oct 17, 2022 (156)
78 EVA ss5972135809 Oct 17, 2022 (156)
79 1000Genomes NC_000007.13 - 50530869 Oct 12, 2018 (152)
80 1000Genomes_30x NC_000007.14 - 50463171 Oct 17, 2022 (156)
81 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 50530869 Oct 12, 2018 (152)
82 Genetic variation in the Estonian population NC_000007.13 - 50530869 Oct 12, 2018 (152)
83 gnomAD - Genomes NC_000007.14 - 50463171 Apr 27, 2021 (155)
84 Genome of the Netherlands Release 5 NC_000007.13 - 50530869 Apr 26, 2020 (154)
85 HapMap NC_000007.14 - 50463171 Apr 26, 2020 (154)
86 Medical Genome Project healthy controls from Spanish population NC_000007.13 - 50530869 Apr 26, 2020 (154)
87 Northern Sweden NC_000007.13 - 50530869 Jul 13, 2019 (153)
88 Qatari NC_000007.13 - 50530869 Apr 26, 2020 (154)
89 SGDP_PRJ NC_000007.13 - 50530869 Apr 26, 2020 (154)
90 8.3KJPN NC_000007.13 - 50530869 Apr 27, 2021 (155)
91 14KJPN NC_000007.14 - 50463171 Oct 17, 2022 (156)
92 TopMed NC_000007.14 - 50463171 Apr 27, 2021 (155)
93 UK 10K study - Twins NC_000007.13 - 50530869 Oct 12, 2018 (152)
94 ALFA NC_000007.14 - 50463171 Apr 27, 2021 (155)
95 ClinVar RCV001598467.3 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).

Associated ID History Updated (Build)
rs59944780 May 25, 2008 (130)
rs386520022 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss81394381 NC_000007.11:50305077:G:A NC_000007.14:50463170:G:A (self)
ss116076835, ss203309452, ss212039821, ss479529944, ss1593838577, ss1712954786, ss2094975965, ss3643633186 NC_000007.12:50498362:G:A NC_000007.14:50463170:G:A (self)
37036928, 20656391, 14753427, 9211210, 278958, 7902071, 9546428, 19252855, 41053621, 20656391, ss223068946, ss233970962, ss479533771, ss479993251, ss484563936, ss536699438, ss559994942, ss778384161, ss782728675, ss783695937, ss831980391, ss833839173, ss984260486, ss1074597147, ss1325069633, ss1618182252, ss1661176285, ss1711163198, ss1752689225, ss1804997236, ss1927504498, ss2024436312, ss2095199133, ss2095199134, ss2634605156, ss2852975183, ss3001092252, ss3629815625, ss3632512653, ss3633463171, ss3634188084, ss3635121472, ss3635867917, ss3636853463, ss3637620881, ss3638697451, ss3640828765, ss3646352726, ss3653266270, ss3653266271, ss3669015179, ss3734617206, ss3745421520, ss3772914453, ss3825719953, ss3867235875, ss4017336065, ss5183084314, ss5373466471, ss5508951202, ss5642918172, ss5799724780, ss5822802001, ss5972135809 NC_000007.13:50530868:G:A NC_000007.14:50463170:G:A (self)
RCV001598467.3, 48492465, 261066037, 3398741, 56738674, 582858072, 10079559543, ss2293922656, ss3719664648, ss3809704905, ss4745480513, ss5272823685, ss5470001977, ss5560966530, ss5722901570, ss5858848967 NC_000007.14:50463170:G:A NC_000007.14:50463170:G:A (self)
ss16361540, ss75038314, ss119691230, ss159981857, ss171303551 NT_033968.6:120237:G:A NC_000007.14:50463170:G:A (self)
10079559543, ss3719664649 NC_000007.14:50463170:G:T NC_000007.14:50463170: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.

3 citations for rs11575543
PMID Title Author Year Journal
20732625 Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder. Neale BM et al. 2010 Journal of the American Academy of Child and Adolescent Psychiatry
20732903 Predicting sensation seeking from dopamine genes. A candidate-system approach. Derringer J et al. 2010 Psychological science
30911067 A new common functional coding variant at the DDC gene change renal enzyme activity and modify renal dopamine function. Miramontes-Gonzalez JP et al. 2019 Scientific reports
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