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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.

rs7782552

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:121006843 (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
A=0.464177 (122863/264690, TOPMED)
A=0.42537 (12020/28258, 14KJPN)
A=0.42004 (7039/16758, 8.3KJPN) (+ 18 more)
A=0.34460 (4506/13076, ALFA)
A=0.4755 (3045/6404, 1000G_30x)
A=0.4764 (2386/5008, 1000G)
G=0.4993 (2237/4480, Estonian)
G=0.4593 (1770/3854, ALSPAC)
G=0.4458 (1653/3708, TWINSUK)
A=0.4601 (1348/2930, KOREAN)
A=0.4454 (816/1832, Korea1K)
G=0.3917 (445/1136, Daghestan)
G=0.475 (474/998, GoNL)
A=0.462 (277/600, NorthernSweden)
G=0.318 (117/368, SGDP_PRJ)
A=0.376 (124/330, HapMap)
G=0.407 (88/216, Qatari)
G=0.495 (107/216, Vietnamese)
A=0.46 (22/48, Ancient Sardinia)
G=0.45 (18/40, GENOME_DK)
G=0.39 (14/36, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CPED1 : Intron Variant
Publications
0 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 13076 G=0.65540 A=0.34460, C=0.00000
European Sub 8216 G=0.5741 A=0.4259, C=0.0000
African Sub 4180 G=0.7940 A=0.2060, C=0.0000
African Others Sub 158 G=0.848 A=0.152, C=0.000
African American Sub 4022 G=0.7919 A=0.2081, C=0.0000
Asian Sub 38 G=0.89 A=0.11, C=0.00
East Asian Sub 34 G=0.91 A=0.09, C=0.00
Other Asian Sub 4 G=0.8 A=0.2, C=0.0
Latin American 1 Sub 28 G=1.00 A=0.00, C=0.00
Latin American 2 Sub 164 G=1.000 A=0.000, C=0.000
South Asian Sub 28 G=0.86 A=0.14, C=0.00
Other Sub 422 G=0.673 A=0.327, C=0.000


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=0.535823 A=0.464177
14KJPN JAPANESE Study-wide 28258 G=0.57463 A=0.42537
8.3KJPN JAPANESE Study-wide 16758 G=0.57996 A=0.42004
Allele Frequency Aggregator Total Global 13076 G=0.65540 A=0.34460, C=0.00000
Allele Frequency Aggregator European Sub 8216 G=0.5741 A=0.4259, C=0.0000
Allele Frequency Aggregator African Sub 4180 G=0.7940 A=0.2060, C=0.0000
Allele Frequency Aggregator Other Sub 422 G=0.673 A=0.327, C=0.000
Allele Frequency Aggregator Latin American 2 Sub 164 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator Asian Sub 38 G=0.89 A=0.11, C=0.00
Allele Frequency Aggregator Latin American 1 Sub 28 G=1.00 A=0.00, C=0.00
Allele Frequency Aggregator South Asian Sub 28 G=0.86 A=0.14, C=0.00
1000Genomes_30x Global Study-wide 6404 G=0.5245 A=0.4755
1000Genomes_30x African Sub 1786 G=0.7324 A=0.2676
1000Genomes_30x Europe Sub 1266 G=0.4526 A=0.5474
1000Genomes_30x South Asian Sub 1202 G=0.3203 A=0.6797
1000Genomes_30x East Asian Sub 1170 G=0.5009 A=0.4991
1000Genomes_30x American Sub 980 G=0.517 A=0.483
1000Genomes Global Study-wide 5008 G=0.5236 A=0.4764
1000Genomes African Sub 1322 G=0.7443 A=0.2557
1000Genomes East Asian Sub 1008 G=0.5040 A=0.4960
1000Genomes Europe Sub 1006 G=0.4622 A=0.5378
1000Genomes South Asian Sub 978 G=0.320 A=0.680
1000Genomes American Sub 694 G=0.507 A=0.493
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.4993 A=0.5007
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.4593 A=0.5407
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.4458 A=0.5542
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.5399 A=0.4601, C=0.0000, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 G=0.5546 A=0.4454
Genome-wide autozygosity in Daghestan Global Study-wide 1136 G=0.3917 A=0.6083
Genome-wide autozygosity in Daghestan Daghestan Sub 628 G=0.381 A=0.619
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=0.465 A=0.535
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.434 A=0.566
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.380 A=0.620
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.36 A=0.64
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.28 A=0.72
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.475 A=0.525
Northern Sweden ACPOP Study-wide 600 G=0.538 A=0.462
SGDP_PRJ Global Study-wide 368 G=0.318 A=0.682
HapMap Global Study-wide 330 G=0.624 A=0.376
HapMap African Sub 120 G=0.783 A=0.217
HapMap American Sub 120 G=0.475 A=0.525
HapMap Asian Sub 90 G=0.61 A=0.39
Qatari Global Study-wide 216 G=0.407 A=0.593
A Vietnamese Genetic Variation Database Global Study-wide 216 G=0.495 A=0.505
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 48 G=0.54 A=0.46
The Danish reference pan genome Danish Study-wide 40 G=0.45 A=0.55
Siberian Global Study-wide 36 G=0.39 A=0.61
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.121006843G>A
GRCh38.p14 chr 7 NC_000007.14:g.121006843G>C
GRCh38.p14 chr 7 NC_000007.14:g.121006843G>T
GRCh37.p13 chr 7 NC_000007.13:g.120646897G>A
GRCh37.p13 chr 7 NC_000007.13:g.120646897G>C
GRCh37.p13 chr 7 NC_000007.13:g.120646897G>T
Gene: CPED1, cadherin like and PC-esterase domain containing 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CPED1 transcript variant 2 NM_001105533.1:c.250-8822…

NM_001105533.1:c.250-8822G>A

 		N/A Intron Variant
CPED1 transcript variant 1 NM_024913.5:c.250-8822G>A N/A Intron Variant
CPED1 transcript variant X1 XM_024446941.2:c.-81+1697…

XM_024446941.2:c.-81+16973G>A

 		N/A Intron Variant
CPED1 transcript variant X2 XM_047420856.1:c.250-8822…

XM_047420856.1:c.250-8822G>A

 		N/A Intron Variant
CPED1 transcript variant X3 XM_047420857.1:c.250-8822…

XM_047420857.1:c.250-8822G>A

 		N/A Intron 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 7 NC_000007.14:g.121006843= NC_000007.14:g.121006843G>A NC_000007.14:g.121006843G>C NC_000007.14:g.121006843G>T
GRCh37.p13 chr 7 NC_000007.13:g.120646897= NC_000007.13:g.120646897G>A NC_000007.13:g.120646897G>C NC_000007.13:g.120646897G>T
CPED1 transcript variant 2 NM_001105533.1:c.250-8822= NM_001105533.1:c.250-8822G>A NM_001105533.1:c.250-8822G>C NM_001105533.1:c.250-8822G>T
CPED1 transcript variant 1 NM_024913.4:c.250-8822= NM_024913.4:c.250-8822G>A NM_024913.4:c.250-8822G>C NM_024913.4:c.250-8822G>T
CPED1 transcript variant 1 NM_024913.5:c.250-8822= NM_024913.5:c.250-8822G>A NM_024913.5:c.250-8822G>C NM_024913.5:c.250-8822G>T
CPED1 transcript variant X1 XM_024446941.2:c.-81+16973= XM_024446941.2:c.-81+16973G>A XM_024446941.2:c.-81+16973G>C XM_024446941.2:c.-81+16973G>T
CPED1 transcript variant X2 XM_047420856.1:c.250-8822= XM_047420856.1:c.250-8822G>A XM_047420856.1:c.250-8822G>C XM_047420856.1:c.250-8822G>T
CPED1 transcript variant X3 XM_047420857.1:c.250-8822= XM_047420857.1:c.250-8822G>A XM_047420857.1:c.250-8822G>C XM_047420857.1:c.250-8822G>T
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#.

72 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss11853819 Jul 11, 2003 (116)
2 WUGSC_SSAHASNP ss14553853 Dec 05, 2003 (120)
3 SSAHASNP ss22596758 Apr 05, 2004 (121)
4 PERLEGEN ss24468485 Sep 20, 2004 (123)
5 ABI ss44790113 Mar 13, 2006 (126)
6 HGSV ss78599039 Dec 07, 2007 (129)
7 HUMANGENOME_JCVI ss98181829 Feb 04, 2009 (130)
8 BGI ss105568091 Feb 04, 2009 (130)
9 1000GENOMES ss112483446 Jan 25, 2009 (130)
10 ILLUMINA-UK ss116277998 Feb 14, 2009 (130)
11 ENSEMBL ss139484444 Dec 01, 2009 (131)
12 COMPLETE_GENOMICS ss162663270 Jul 04, 2010 (132)
13 COMPLETE_GENOMICS ss167051586 Jul 04, 2010 (132)
14 BUSHMAN ss198178960 Jul 04, 2010 (132)
15 1000GENOMES ss223300249 Jul 14, 2010 (132)
16 1000GENOMES ss234143970 Jul 15, 2010 (132)
17 1000GENOMES ss241063050 Jul 15, 2010 (132)
18 BL ss254641325 May 09, 2011 (134)
19 GMI ss279507157 May 04, 2012 (137)
20 PJP ss293954706 May 09, 2011 (134)
21 TISHKOFF ss560269521 Apr 25, 2013 (138)
22 SSMP ss654676188 Apr 25, 2013 (138)
23 EVA-GONL ss984736896 Aug 21, 2014 (142)
24 JMKIDD_LAB ss1074937504 Aug 21, 2014 (142)
25 1000GENOMES ss1326916158 Aug 21, 2014 (142)
26 HAMMER_LAB ss1397504724 Sep 08, 2015 (146)
27 DDI ss1431261178 Apr 01, 2015 (144)
28 EVA_GENOME_DK ss1582378263 Apr 01, 2015 (144)
29 EVA_DECODE ss1594324139 Apr 01, 2015 (144)
30 EVA_UK10K_ALSPAC ss1619097912 Apr 01, 2015 (144)
31 EVA_UK10K_TWINSUK ss1662091945 Apr 01, 2015 (144)
32 WEILL_CORNELL_DGM ss1927998624 Feb 12, 2016 (147)
33 GENOMED ss1970802257 Jul 19, 2016 (147)
34 JJLAB ss2024683422 Sep 14, 2016 (149)
35 USC_VALOUEV ss2152906017 Dec 20, 2016 (150)
36 HUMAN_LONGEVITY ss2297401387 Dec 20, 2016 (150)
37 SYSTEMSBIOZJU ss2626829332 Nov 08, 2017 (151)
38 GRF ss2708621990 Nov 08, 2017 (151)
39 GNOMAD ss2858475386 Nov 08, 2017 (151)
40 SWEGEN ss3001943764 Nov 08, 2017 (151)
41 BIOINF_KMB_FNS_UNIBA ss3026130926 Nov 08, 2017 (151)
42 CSHL ss3347816977 Nov 08, 2017 (151)
43 URBANLAB ss3648738969 Oct 12, 2018 (152)
44 EGCUT_WGS ss3669698796 Jul 13, 2019 (153)
45 EVA_DECODE ss3720582327 Jul 13, 2019 (153)
46 ACPOP ss3735021650 Jul 13, 2019 (153)
47 EVA ss3767093360 Jul 13, 2019 (153)
48 PACBIO ss3785941679 Jul 13, 2019 (153)
49 PACBIO ss3791222816 Jul 13, 2019 (153)
50 PACBIO ss3796102944 Jul 13, 2019 (153)
51 KHV_HUMAN_GENOMES ss3810264919 Jul 13, 2019 (153)
52 EVA ss3830791477 Apr 26, 2020 (154)
53 EVA ss3838893786 Apr 26, 2020 (154)
54 EVA ss3844349856 Apr 26, 2020 (154)
55 SGDP_PRJ ss3868282636 Apr 26, 2020 (154)
56 KRGDB ss3915618976 Apr 26, 2020 (154)
57 KOGIC ss3962473983 Apr 26, 2020 (154)
58 EVA ss3985318529 Apr 26, 2021 (155)
59 TOPMED ss4761790289 Apr 26, 2021 (155)
60 TOMMO_GENOMICS ss5185335029 Apr 26, 2021 (155)
61 1000G_HIGH_COVERAGE ss5274544574 Oct 13, 2022 (156)
62 EVA ss5376430169 Oct 13, 2022 (156)
63 HUGCELL_USP ss5471451257 Oct 13, 2022 (156)
64 EVA ss5509112487 Oct 13, 2022 (156)
65 1000G_HIGH_COVERAGE ss5563601611 Oct 13, 2022 (156)
66 SANFORD_IMAGENETICS ss5643876795 Oct 13, 2022 (156)
67 TOMMO_GENOMICS ss5726255210 Oct 13, 2022 (156)
68 YY_MCH ss5809045411 Oct 13, 2022 (156)
69 EVA ss5823450293 Oct 13, 2022 (156)
70 EVA ss5856073596 Oct 13, 2022 (156)
71 EVA ss5860663578 Oct 13, 2022 (156)
72 EVA ss5973069047 Oct 13, 2022 (156)
73 1000Genomes NC_000007.13 - 120646897 Oct 12, 2018 (152)
74 1000Genomes_30x NC_000007.14 - 121006843 Oct 13, 2022 (156)
75 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 120646897 Oct 12, 2018 (152)
76 Genome-wide autozygosity in Daghestan NC_000007.12 - 120434133 Apr 26, 2020 (154)
77 Genetic variation in the Estonian population NC_000007.13 - 120646897 Oct 12, 2018 (152)
78 The Danish reference pan genome NC_000007.13 - 120646897 Apr 26, 2020 (154)
79 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 275019993 (NC_000007.14:121006842:G:A 64452/139884)
Row 275019994 (NC_000007.14:121006842:G:C 1/139960)

- Apr 26, 2021 (155)
80 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 275019993 (NC_000007.14:121006842:G:A 64452/139884)
Row 275019994 (NC_000007.14:121006842:G:C 1/139960)

- Apr 26, 2021 (155)
81 Genome of the Netherlands Release 5 NC_000007.13 - 120646897 Apr 26, 2020 (154)
82 HapMap NC_000007.14 - 121006843 Apr 26, 2020 (154)
83 KOREAN population from KRGDB NC_000007.13 - 120646897 Apr 26, 2020 (154)
84 Korean Genome Project NC_000007.14 - 121006843 Apr 26, 2020 (154)
85 Northern Sweden NC_000007.13 - 120646897 Jul 13, 2019 (153)
86 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000007.13 - 120646897 Apr 26, 2021 (155)
87 Qatari NC_000007.13 - 120646897 Apr 26, 2020 (154)
88 SGDP_PRJ NC_000007.13 - 120646897 Apr 26, 2020 (154)
89 Siberian NC_000007.13 - 120646897 Apr 26, 2020 (154)
90 8.3KJPN NC_000007.13 - 120646897 Apr 26, 2021 (155)
91 14KJPN NC_000007.14 - 121006843 Oct 13, 2022 (156)
92 TopMed NC_000007.14 - 121006843 Apr 26, 2021 (155)
93 UK 10K study - Twins NC_000007.13 - 120646897 Oct 12, 2018 (152)
94 A Vietnamese Genetic Variation Database NC_000007.13 - 120646897 Jul 13, 2019 (153)
95 ALFA NC_000007.14 - 121006843 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)
rs10348563 Feb 27, 2004 (120)
rs17618852 Oct 08, 2004 (123)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78599039 NC_000007.11:120240847:G:A NC_000007.14:121006842:G:A (self)
478765, ss112483446, ss116277998, ss162663270, ss167051586, ss198178960, ss254641325, ss279507157, ss293954706, ss1397504724, ss1594324139 NC_000007.12:120434132:G:A NC_000007.14:121006842:G:A (self)
38951204, 21669847, 15437044, 8543201, 9669277, 22796370, 8306515, 544456, 10040554, 20299616, 5422371, 43304336, 21669847, 4827329, ss223300249, ss234143970, ss241063050, ss560269521, ss654676188, ss984736896, ss1074937504, ss1326916158, ss1431261178, ss1582378263, ss1619097912, ss1662091945, ss1927998624, ss1970802257, ss2024683422, ss2152906017, ss2626829332, ss2708621990, ss2858475386, ss3001943764, ss3347816977, ss3669698796, ss3735021650, ss3767093360, ss3785941679, ss3791222816, ss3796102944, ss3830791477, ss3838893786, ss3868282636, ss3915618976, ss3985318529, ss5185335029, ss5376430169, ss5509112487, ss5643876795, ss5823450293, ss5973069047 NC_000007.13:120646896:G:A NC_000007.14:121006842:G:A (self)
51127546, 3480983, 18851984, 60092314, 599167848, 5674014311, ss2297401387, ss3026130926, ss3648738969, ss3720582327, ss3810264919, ss3844349856, ss3962473983, ss4761790289, ss5274544574, ss5471451257, ss5563601611, ss5726255210, ss5809045411, ss5856073596, ss5860663578 NC_000007.14:121006842:G:A NC_000007.14:121006842:G:A (self)
ss11853819 NT_007933.12:45823586:G:A NC_000007.14:121006842:G:A (self)
ss14553853, ss22596758 NT_007933.13:45823586:G:A NC_000007.14:121006842:G:A (self)
ss24468485, ss44790113, ss98181829, ss105568091, ss139484444 NT_007933.15:58679739:G:A NC_000007.14:121006842:G:A (self)
22796370, ss3915618976 NC_000007.13:120646896:G:C NC_000007.14:121006842:G:C (self)
5674014311, ss2297401387 NC_000007.14:121006842:G:C NC_000007.14:121006842:G:C (self)
22796370, ss3915618976 NC_000007.13:120646896:G:T NC_000007.14:121006842: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.

No publications for rs7782552

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