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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.

rs7193788

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr16:82622555 (GRCh38.p13) 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>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.158665 (41997/264690, TOPMED)
G=0.160055 (22449/140258, GnomAD)
G=0.15197 (11883/78192, ALFA) (+ 18 more)
G=0.42363 (7100/16760, 8.3KJPN)
G=0.2282 (1143/5008, 1000G)
G=0.1804 (808/4480, Estonian)
G=0.1458 (562/3854, ALSPAC)
G=0.1462 (542/3708, TWINSUK)
G=0.4457 (1306/2930, KOREAN)
G=0.2442 (509/2084, HGDP_Stanford)
G=0.2310 (437/1892, HapMap)
G=0.4372 (801/1832, Korea1K)
G=0.161 (161/998, GoNL)
G=0.126 (79/626, Chileans)
G=0.172 (103/600, NorthernSweden)
A=0.391 (93/238, SGDP_PRJ)
G=0.167 (36/216, Qatari)
A=0.458 (98/214, Vietnamese)
G=0.09 (4/44, Ancient Sardinia)
G=0.23 (9/40, GENOME_DK)
A=0.38 (15/40, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
3 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.p13 chr 16 NC_000016.10:g.82622555A>G
GRCh37.p13 chr 16 NC_000016.9:g.82656160A>G
CDH13 RefSeqGene NG_052819.1:g.762A>G
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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 78192 A=0.84803 G=0.15197
European Sub 61872 A=0.85449 G=0.14551
African Sub 5204 A=0.8522 G=0.1478
African Others Sub 182 A=0.846 G=0.154
African American Sub 5022 A=0.8524 G=0.1476
Asian Sub 238 A=0.479 G=0.521
East Asian Sub 164 A=0.500 G=0.500
Other Asian Sub 74 A=0.43 G=0.57
Latin American 1 Sub 400 A=0.860 G=0.140
Latin American 2 Sub 3392 A=0.8529 G=0.1471
South Asian Sub 4964 A=0.7830 G=0.2170
Other Sub 2122 A=0.8327 G=0.1673


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 A=0.841335 G=0.158665
gnomAD - Genomes Global Study-wide 140258 A=0.839945 G=0.160055
gnomAD - Genomes European Sub 75936 A=0.83868 G=0.16132
gnomAD - Genomes African Sub 42056 A=0.85771 G=0.14229
gnomAD - Genomes American Sub 13660 A=0.85344 G=0.14656
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.9176 G=0.0824
gnomAD - Genomes East Asian Sub 3130 A=0.4990 G=0.5010
gnomAD - Genomes Other Sub 2152 A=0.8276 G=0.1724
8.3KJPN JAPANESE Study-wide 16760 A=0.57637 G=0.42363
1000Genomes Global Study-wide 5008 A=0.7718 G=0.2282
1000Genomes African Sub 1322 A=0.8759 G=0.1241
1000Genomes East Asian Sub 1008 A=0.5248 G=0.4752
1000Genomes Europe Sub 1006 A=0.8410 G=0.1590
1000Genomes South Asian Sub 978 A=0.762 G=0.238
1000Genomes American Sub 694 A=0.846 G=0.154
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.8196 G=0.1804
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.8542 G=0.1458
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.8538 G=0.1462
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.5543 G=0.4457
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.7558 G=0.2442
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.509 G=0.491
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.720 G=0.280
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.863 G=0.137
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.881 G=0.119
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.868 G=0.132
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.875 G=0.125
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.76 G=0.24
HapMap Global Study-wide 1892 A=0.7690 G=0.2310
HapMap American Sub 770 A=0.760 G=0.240
HapMap African Sub 692 A=0.842 G=0.158
HapMap Asian Sub 254 A=0.516 G=0.484
HapMap Europe Sub 176 A=0.886 G=0.114
Korean Genome Project KOREAN Study-wide 1832 A=0.5628 G=0.4372
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.839 G=0.161
Chileans Chilean Study-wide 626 A=0.874 G=0.126
Northern Sweden ACPOP Study-wide 600 A=0.828 G=0.172
SGDP_PRJ Global Study-wide 238 A=0.391 G=0.609
Qatari Global Study-wide 216 A=0.833 G=0.167
A Vietnamese Genetic Variation Database Global Study-wide 214 A=0.458 G=0.542
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 44 A=0.91 G=0.09
The Danish reference pan genome Danish Study-wide 40 A=0.78 G=0.23
Siberian Global Study-wide 40 A=0.38 G=0.62
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= G
GRCh38.p13 chr 16 NC_000016.10:g.82622555= NC_000016.10:g.82622555A>G
GRCh37.p13 chr 16 NC_000016.9:g.82656160= NC_000016.9:g.82656160A>G
CDH13 RefSeqGene NG_052819.1:g.762= NG_052819.1:g.762A>G
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, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss10822074 Jul 11, 2003 (116)
2 CSHL-HAPMAP ss20028823 Feb 27, 2004 (120)
3 PERLEGEN ss24060055 Sep 20, 2004 (123)
4 ABI ss40706712 Mar 13, 2006 (126)
5 AFFY ss66460160 Nov 30, 2006 (127)
6 ILLUMINA ss66755161 Nov 30, 2006 (127)
7 ILLUMINA ss67553989 Nov 30, 2006 (127)
8 ILLUMINA ss67929526 Nov 30, 2006 (127)
9 ILLUMINA ss70915136 May 25, 2008 (130)
10 ILLUMINA ss71513669 May 17, 2007 (127)
11 ILLUMINA ss75704637 Dec 07, 2007 (129)
12 AFFY ss76258288 Dec 07, 2007 (129)
13 ILLUMINA ss79249451 Dec 15, 2007 (130)
14 KRIBB_YJKIM ss84634686 Dec 15, 2007 (130)
15 BGI ss103316223 Dec 01, 2009 (131)
16 ILLUMINA ss122711558 Dec 01, 2009 (131)
17 ILLUMINA ss154411473 Dec 01, 2009 (131)
18 GMI ss157635761 Dec 01, 2009 (131)
19 ILLUMINA ss159586573 Dec 01, 2009 (131)
20 ENSEMBL ss161811219 Dec 01, 2009 (131)
21 COMPLETE_GENOMICS ss171609846 Jul 04, 2010 (132)
22 ILLUMINA ss172259448 Jul 04, 2010 (132)
23 AFFY ss173005512 Jun 24, 2010 (142)
24 ILLUMINA ss174283484 Jul 04, 2010 (132)
25 BUSHMAN ss201994383 Jul 04, 2010 (132)
26 BCM-HGSC-SUB ss207598210 Jul 04, 2010 (132)
27 1000GENOMES ss227371886 Jul 14, 2010 (132)
28 1000GENOMES ss237117522 Jul 15, 2010 (132)
29 1000GENOMES ss243439981 Jul 15, 2010 (132)
30 GMI ss282625753 May 04, 2012 (137)
31 PJP ss291889264 May 09, 2011 (134)
32 ILLUMINA ss537448246 Sep 08, 2015 (146)
33 TISHKOFF ss565056400 Apr 25, 2013 (138)
34 SSMP ss660834968 Apr 25, 2013 (138)
35 ILLUMINA ss825579969 Apr 01, 2015 (144)
36 ILLUMINA ss833097610 Jul 13, 2019 (153)
37 EVA-GONL ss992745947 Aug 21, 2014 (142)
38 JMKIDD_LAB ss1080809104 Aug 21, 2014 (142)
39 1000GENOMES ss1357231675 Aug 21, 2014 (142)
40 EVA_GENOME_DK ss1578016357 Apr 01, 2015 (144)
41 EVA_UK10K_ALSPAC ss1634951565 Apr 01, 2015 (144)
42 EVA_UK10K_TWINSUK ss1677945598 Apr 01, 2015 (144)
43 EVA_DECODE ss1696785952 Apr 01, 2015 (144)
44 EVA_SVP ss1713557414 Apr 01, 2015 (144)
45 HAMMER_LAB ss1808623082 Sep 08, 2015 (146)
46 WEILL_CORNELL_DGM ss1936178550 Feb 12, 2016 (147)
47 GENOMED ss1968315829 Jul 19, 2016 (147)
48 JJLAB ss2028878571 Sep 14, 2016 (149)
49 USC_VALOUEV ss2157317894 Dec 20, 2016 (150)
50 HUMAN_LONGEVITY ss2214188100 Dec 20, 2016 (150)
51 TOPMED ss2378965343 Dec 20, 2016 (150)
52 SYSTEMSBIOZJU ss2628930510 Nov 08, 2017 (151)
53 GRF ss2701852748 Nov 08, 2017 (151)
54 GNOMAD ss2945816492 Nov 08, 2017 (151)
55 AFFY ss2985711140 Nov 08, 2017 (151)
56 SWEGEN ss3014912177 Nov 08, 2017 (151)
57 BIOINF_KMB_FNS_UNIBA ss3028256174 Nov 08, 2017 (151)
58 TOPMED ss3253008266 Nov 08, 2017 (151)
59 CSHL ss3351564239 Nov 08, 2017 (151)
60 ILLUMINA ss3627581255 Oct 12, 2018 (152)
61 ILLUMINA ss3638139075 Oct 12, 2018 (152)
62 ILLUMINA ss3639080563 Oct 12, 2018 (152)
63 ILLUMINA ss3639546730 Oct 12, 2018 (152)
64 ILLUMINA ss3643119158 Oct 12, 2018 (152)
65 EGCUT_WGS ss3681894634 Jul 13, 2019 (153)
66 EVA_DECODE ss3699743633 Jul 13, 2019 (153)
67 ACPOP ss3741719865 Jul 13, 2019 (153)
68 EVA ss3754238066 Jul 13, 2019 (153)
69 KHV_HUMAN_GENOMES ss3819513878 Jul 13, 2019 (153)
70 EVA ss3834690023 Apr 27, 2020 (154)
71 HGDP ss3847553093 Apr 27, 2020 (154)
72 SGDP_PRJ ss3884953706 Apr 27, 2020 (154)
73 KRGDB ss3934502408 Apr 27, 2020 (154)
74 KOGIC ss3978061198 Apr 27, 2020 (154)
75 EVA ss3985771302 Apr 26, 2021 (155)
76 EVA ss4017748266 Apr 26, 2021 (155)
77 TOPMED ss5023998888 Apr 26, 2021 (155)
78 TOMMO_GENOMICS ss5220701419 Apr 26, 2021 (155)
79 1000Genomes NC_000016.9 - 82656160 Oct 12, 2018 (152)
80 The Avon Longitudinal Study of Parents and Children NC_000016.9 - 82656160 Oct 12, 2018 (152)
81 Chileans NC_000016.9 - 82656160 Apr 27, 2020 (154)
82 Genetic variation in the Estonian population NC_000016.9 - 82656160 Oct 12, 2018 (152)
83 The Danish reference pan genome NC_000016.9 - 82656160 Apr 27, 2020 (154)
84 gnomAD - Genomes NC_000016.10 - 82622555 Apr 26, 2021 (155)
85 Genome of the Netherlands Release 5 NC_000016.9 - 82656160 Apr 27, 2020 (154)
86 HGDP-CEPH-db Supplement 1 NC_000016.8 - 81213661 Apr 27, 2020 (154)
87 HapMap NC_000016.10 - 82622555 Apr 27, 2020 (154)
88 KOREAN population from KRGDB NC_000016.9 - 82656160 Apr 27, 2020 (154)
89 Korean Genome Project NC_000016.10 - 82622555 Apr 27, 2020 (154)
90 Northern Sweden NC_000016.9 - 82656160 Jul 13, 2019 (153)
91 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000016.9 - 82656160 Apr 26, 2021 (155)
92 Qatari NC_000016.9 - 82656160 Apr 27, 2020 (154)
93 SGDP_PRJ NC_000016.9 - 82656160 Apr 27, 2020 (154)
94 Siberian NC_000016.9 - 82656160 Apr 27, 2020 (154)
95 8.3KJPN NC_000016.9 - 82656160 Apr 26, 2021 (155)
96 TopMed NC_000016.10 - 82622555 Apr 26, 2021 (155)
97 UK 10K study - Twins NC_000016.9 - 82656160 Oct 12, 2018 (152)
98 A Vietnamese Genetic Variation Database NC_000016.9 - 82656160 Jul 13, 2019 (153)
99 ALFA NC_000016.10 - 82622555 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)
rs59704536 May 25, 2008 (130)
rs111188804 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
230985, ss66460160, ss76258288, ss171609846, ss173005512, ss201994383, ss207598210, ss282625753, ss291889264, ss825579969, ss1696785952, ss1713557414, ss3639080563, ss3639546730, ss3643119158, ss3847553093 NC_000016.8:81213660:A:G NC_000016.10:82622554:A:G (self)
70425146, 39075027, 174150, 27632882, 4224461, 17418596, 41679802, 15004730, 997229, 18220472, 36970686, 9834248, 78670726, 39075027, 8659552, ss227371886, ss237117522, ss243439981, ss537448246, ss565056400, ss660834968, ss833097610, ss992745947, ss1080809104, ss1357231675, ss1578016357, ss1634951565, ss1677945598, ss1808623082, ss1936178550, ss1968315829, ss2028878571, ss2157317894, ss2378965343, ss2628930510, ss2701852748, ss2945816492, ss2985711140, ss3014912177, ss3351564239, ss3627581255, ss3638139075, ss3681894634, ss3741719865, ss3754238066, ss3834690023, ss3884953706, ss3934502408, ss3985771302, ss4017748266, ss5220701419 NC_000016.9:82656159:A:G NC_000016.10:82622554:A:G (self)
496761426, 1429028, 34439199, 149501893, 239544549, 4287417414, ss2214188100, ss3028256174, ss3253008266, ss3699743633, ss3819513878, ss3978061198, ss5023998888 NC_000016.10:82622554:A:G NC_000016.10:82622554:A:G (self)
ss24060055, ss40706712, ss66755161, ss67553989, ss67929526, ss70915136, ss71513669, ss75704637, ss79249451, ss84634686, ss103316223, ss122711558, ss154411473, ss157635761, ss159586573, ss161811219, ss172259448, ss174283484 NT_010498.15:36270358:A:G NC_000016.10:82622554:A:G (self)
ss10822074 NT_024797.13:9367998:A:G NC_000016.10:82622554:A:G (self)
ss20028823 NT_024797.14:9368004:A:G NC_000016.10:82622554:A:G (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 rs7193788
PMID Title Author Year Journal
20887962 Adiponectin concentrations: a genome-wide association study. Jee SH et al. 2010 American journal of human genetics
21771975 A genome-wide association study reveals a quantitative trait locus of adiponectin on CDH13 that predicts cardiometabolic outcomes. Chung CM et al. 2011 Diabetes
28245897 CDH13 Genetic Polymorphisms, Adiponectin and Ischemic Stroke: a Chinese Family-based Sib-pair Study. Chen L et al. 2017 Biomedical and environmental sciences
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.post596+ae089ad