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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.

rs5728

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr16:23216041 (GRCh38.p12) 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=0.409547 (51426/125568, TOPMED)
G=0.438231 (47286/107902, ALFA Project)
G=0.36535 (28744/78676, PAGE_STUDY) (+ 14 more)
G=0.41550 (13025/31348, GnomAD)
G=0.3395 (1700/5008, 1000G)
G=0.4638 (2078/4480, Estonian)
G=0.4468 (1722/3854, ALSPAC)
G=0.4542 (1684/3708, TWINSUK)
G=0.1621 (475/2930, KOREAN)
G=0.3696 (697/1886, HapMap)
G=0.408 (407/998, GoNL)
G=0.468 (281/600, NorthernSweden)
A=0.364 (120/330, SGDP_PRJ)
G=0.398 (86/216, Qatari)
G=0.227 (49/216, Vietnamese)
A=0.43 (18/42, Siberian)
G=0.45 (18/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
SCNN1G : 3 Prime UTR Variant
Publications
1 citation
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.p12 chr 16 NC_000016.10:g.23216041A>G
GRCh37.p13 chr 16 NC_000016.9:g.23227362A>G
SCNN1G RefSeqGene NG_011909.1:g.38323A>G
Gene: SCNN1G, sodium channel epithelial 1 subunit gamma (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SCNN1G transcript NM_001039.4:c.*572= N/A 3 Prime UTR 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: G (allele ID: 334266 )
ClinVar Accession Disease Names Clinical Significance
RCV000290607.1 Pseudohypoaldosteronism type 1 autosomal recessive Benign
RCV000347941.1 Liddle syndrome 1 Benign

ALFA Allele Frequency (New)
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: 20200227123210
Population Group Sample Size Ref Allele Alt Allele
Total Global 107902 A=0.561769 G=0.438231
European Sub 93526 A=0.55710 G=0.44290
African Sub 5692 A=0.6112 G=0.3888
African Others Sub 206 A=0.660 G=0.340
African American Sub 5486 A=0.6094 G=0.3906
Asian Sub 238 A=0.803 G=0.197
East Asian Sub 168 A=0.810 G=0.190
Other Asian Sub 70 A=0.79 G=0.21
Latin American 1 Sub 558 A=0.518 G=0.482
Latin American 2 Sub 5418 A=0.5622 G=0.4378
South Asian Sub 64 A=0.70 G=0.30
Other Sub 2406 A=0.6081 G=0.3919


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 125568 A=0.590453 G=0.409547
ALFA Total Global 107902 A=0.561769 G=0.438231
ALFA European Sub 93526 A=0.55710 G=0.44290
ALFA African Sub 5692 A=0.6112 G=0.3888
ALFA Latin American 2 Sub 5418 A=0.5622 G=0.4378
ALFA Other Sub 2406 A=0.6081 G=0.3919
ALFA Latin American 1 Sub 558 A=0.518 G=0.482
ALFA Asian Sub 238 A=0.803 G=0.197
ALFA South Asian Sub 64 A=0.70 G=0.30
The PAGE Study Global Study-wide 78676 A=0.63465 G=0.36535
The PAGE Study AfricanAmerican Sub 32510 A=0.61652 G=0.38348
The PAGE Study Mexican Sub 10798 A=0.58483 G=0.41517
The PAGE Study Asian Sub 8318 A=0.8336 G=0.1664
The PAGE Study PuertoRican Sub 7918 A=0.5638 G=0.4362
The PAGE Study NativeHawaiian Sub 4532 A=0.7752 G=0.2248
The PAGE Study Cuban Sub 4230 A=0.5766 G=0.4234
The PAGE Study Dominican Sub 3826 A=0.6257 G=0.3743
The PAGE Study CentralAmerican Sub 2450 A=0.5906 G=0.4094
The PAGE Study SouthAmerican Sub 1982 A=0.5631 G=0.4369
The PAGE Study NativeAmerican Sub 1258 A=0.5525 G=0.4475
The PAGE Study SouthAsian Sub 854 A=0.670 G=0.330
gnomAD - Genomes Global Study-wide 31348 A=0.58450 G=0.41550
gnomAD - Genomes European Sub 18874 A=0.55367 G=0.44633
gnomAD - Genomes African Sub 8700 A=0.6154 G=0.3846
gnomAD - Genomes East Asian Sub 1550 A=0.8181 G=0.1819
gnomAD - Genomes Other Sub 1086 A=0.5838 G=0.4162
gnomAD - Genomes American Sub 848 A=0.538 G=0.462
gnomAD - Genomes Ashkenazi Jewish Sub 290 A=0.555 G=0.445
1000Genomes Global Study-wide 5008 A=0.6605 G=0.3395
1000Genomes African Sub 1322 A=0.6505 G=0.3495
1000Genomes East Asian Sub 1008 A=0.8304 G=0.1696
1000Genomes Europe Sub 1006 A=0.5447 G=0.4553
1000Genomes South Asian Sub 978 A=0.694 G=0.306
1000Genomes American Sub 694 A=0.553 G=0.447
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.5362 G=0.4638
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.5532 G=0.4468
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.5458 G=0.4542
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.8379 G=0.1621
HapMap Global Study-wide 1886 A=0.6304 G=0.3696
HapMap American Sub 768 A=0.652 G=0.348
HapMap African Sub 692 A=0.538 G=0.462
HapMap Asian Sub 250 A=0.852 G=0.148
HapMap Europe Sub 176 A=0.585 G=0.415
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.592 G=0.408
Northern Sweden ACPOP Study-wide 600 A=0.532 G=0.468
SGDP_PRJ Global Study-wide 330 A=0.364 G=0.636
Qatari Global Study-wide 216 A=0.602 G=0.398
A Vietnamese Genetic Variation Database Global Study-wide 216 A=0.773 G=0.227
Siberian Global Study-wide 42 A=0.43 G=0.57
The Danish reference pan genome Danish Study-wide 40 A=0.55 G=0.45
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.p12 chr 16 NC_000016.10:g.23216041= NC_000016.10:g.23216041A>G
GRCh37.p13 chr 16 NC_000016.9:g.23227362= NC_000016.9:g.23227362A>G
SCNN1G RefSeqGene NG_011909.1:g.38323= NG_011909.1:g.38323A>G
SCNN1G transcript NM_001039.4:c.*572= NM_001039.4:c.*572A>G
SCNN1G transcript NM_001039.3:c.*572= NM_001039.3:c.*572A>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#.

103 SubSNP, 17 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 ARAVINDA ss7197 Sep 19, 2000 (52)
2 BCM_SSAHASNP ss14265187 Dec 05, 2003 (119)
3 CSHL-HAPMAP ss16714359 Feb 27, 2004 (120)
4 SSAHASNP ss21308171 Apr 05, 2004 (121)
5 PERLEGEN ss24447533 Sep 20, 2004 (123)
6 ABI ss43807150 Mar 14, 2006 (126)
7 ILLUMINA ss65743287 Oct 13, 2006 (127)
8 PERLEGEN ss69341561 May 16, 2007 (127)
9 ILLUMINA ss74881161 Dec 07, 2007 (129)
10 CGM_KYOTO ss76866540 Dec 07, 2007 (129)
11 BCMHGSC_JDW ss90348115 Mar 24, 2008 (129)
12 CNG ss95213526 Mar 25, 2008 (129)
13 HUMANGENOME_JCVI ss96630802 Feb 05, 2009 (130)
14 RSG_JCVI ss107932459 Feb 05, 2009 (130)
15 ILLUMINA-UK ss118220080 Feb 14, 2009 (130)
16 KRIBB_YJKIM ss119337666 Dec 01, 2009 (131)
17 ENSEMBL ss136633059 Dec 01, 2009 (131)
18 ENSEMBL ss136773659 Dec 01, 2009 (131)
19 ILLUMINA ss160744504 Dec 01, 2009 (131)
20 COMPLETE_GENOMICS ss168018947 Jul 04, 2010 (132)
21 COMPLETE_GENOMICS ss171099358 Jul 04, 2010 (132)
22 ILLUMINA ss173925080 Jul 04, 2010 (132)
23 BUSHMAN ss201551812 Jul 04, 2010 (132)
24 1000GENOMES ss227189594 Jul 14, 2010 (132)
25 1000GENOMES ss236987206 Jul 15, 2010 (132)
26 1000GENOMES ss243335185 Jul 15, 2010 (132)
27 BL ss255582138 May 09, 2011 (134)
28 GMI ss282474908 May 04, 2012 (137)
29 PJP ss291935882 May 09, 2011 (134)
30 ILLUMINA ss481152800 May 04, 2012 (137)
31 ILLUMINA ss481175123 May 04, 2012 (137)
32 ILLUMINA ss482163486 Sep 08, 2015 (146)
33 ILLUMINA ss485371584 May 04, 2012 (137)
34 ILLUMINA ss537312980 Sep 08, 2015 (146)
35 TISHKOFF ss564839408 Apr 25, 2013 (138)
36 SSMP ss660591058 Apr 25, 2013 (138)
37 ILLUMINA ss778558585 Aug 21, 2014 (142)
38 ILLUMINA ss783131399 Aug 21, 2014 (142)
39 ILLUMINA ss784087893 Aug 21, 2014 (142)
40 ILLUMINA ss832390300 Apr 01, 2015 (144)
41 ILLUMINA ss834015419 Aug 21, 2014 (142)
42 EVA-GONL ss992379735 Aug 21, 2014 (142)
43 JMKIDD_LAB ss1080553150 Aug 21, 2014 (142)
44 1000GENOMES ss1355767906 Aug 21, 2014 (142)
45 DDI ss1427807480 Apr 01, 2015 (144)
46 EVA_GENOME_DK ss1577874723 Apr 01, 2015 (144)
47 EVA_UK10K_ALSPAC ss1634199386 Apr 01, 2015 (144)
48 EVA_UK10K_TWINSUK ss1677193419 Apr 01, 2015 (144)
49 EVA_DECODE ss1696414084 Apr 01, 2015 (144)
50 EVA_SVP ss1713532424 Apr 01, 2015 (144)
51 ILLUMINA ss1752186865 Sep 08, 2015 (146)
52 HAMMER_LAB ss1808464932 Sep 08, 2015 (146)
53 WEILL_CORNELL_DGM ss1935802804 Feb 12, 2016 (147)
54 ILLUMINA ss1946411776 Feb 12, 2016 (147)
55 ILLUMINA ss1959668129 Feb 12, 2016 (147)
56 GENOMED ss1968240644 Jul 19, 2016 (147)
57 JJLAB ss2028688462 Sep 14, 2016 (149)
58 USC_VALOUEV ss2157099446 Dec 20, 2016 (150)
59 HUMAN_LONGEVITY ss2211330258 Dec 20, 2016 (150)
60 TOPMED ss2376079103 Dec 20, 2016 (150)
61 SYSTEMSBIOZJU ss2628837417 Nov 08, 2017 (151)
62 ILLUMINA ss2633305653 Nov 08, 2017 (151)
63 GRF ss2701604948 Nov 08, 2017 (151)
64 ILLUMINA ss2710830000 Nov 08, 2017 (151)
65 GNOMAD ss2941478091 Nov 08, 2017 (151)
66 SWEGEN ss3014241762 Nov 08, 2017 (151)
67 ILLUMINA ss3021693938 Nov 08, 2017 (151)
68 BIOINF_KMB_FNS_UNIBA ss3028167638 Nov 08, 2017 (151)
69 TOPMED ss3242751041 Nov 08, 2017 (151)
70 CSHL ss3351383927 Nov 08, 2017 (151)
71 ILLUMINA ss3625689103 Oct 12, 2018 (152)
72 ILLUMINA ss3627498999 Oct 12, 2018 (152)
73 ILLUMINA ss3631292888 Oct 12, 2018 (152)
74 ILLUMINA ss3633117333 Oct 12, 2018 (152)
75 ILLUMINA ss3633823166 Oct 12, 2018 (152)
76 ILLUMINA ss3634636882 Oct 12, 2018 (152)
77 ILLUMINA ss3635511549 Oct 12, 2018 (152)
78 ILLUMINA ss3636327300 Oct 12, 2018 (152)
79 ILLUMINA ss3637262969 Oct 12, 2018 (152)
80 ILLUMINA ss3638118862 Oct 12, 2018 (152)
81 ILLUMINA ss3640344201 Oct 12, 2018 (152)
82 ILLUMINA ss3643100506 Oct 12, 2018 (152)
83 ILLUMINA ss3644664848 Oct 12, 2018 (152)
84 OMUKHERJEE_ADBS ss3646489520 Oct 12, 2018 (152)
85 URBANLAB ss3650486914 Oct 12, 2018 (152)
86 ILLUMINA ss3652100469 Oct 12, 2018 (152)
87 EGCUT_WGS ss3681329067 Jul 13, 2019 (153)
88 EVA_DECODE ss3699028937 Jul 13, 2019 (153)
89 ILLUMINA ss3725552341 Jul 13, 2019 (153)
90 ACPOP ss3741419833 Jul 13, 2019 (153)
91 ILLUMINA ss3744139714 Jul 13, 2019 (153)
92 ILLUMINA ss3744937324 Jul 13, 2019 (153)
93 EVA ss3753800734 Jul 13, 2019 (153)
94 PAGE_CC ss3771872292 Jul 13, 2019 (153)
95 ILLUMINA ss3772435666 Jul 13, 2019 (153)
96 PACBIO ss3788007639 Jul 13, 2019 (153)
97 PACBIO ss3792996854 Jul 13, 2019 (153)
98 PACBIO ss3797881759 Jul 13, 2019 (153)
99 KHV_HUMAN_GENOMES ss3819095100 Jul 13, 2019 (153)
100 EVA ss3825876020 Apr 27, 2020 (154)
101 EVA ss3834520994 Apr 27, 2020 (154)
102 SGDP_PRJ ss3884166905 Apr 27, 2020 (154)
103 KRGDB ss3933497948 Apr 27, 2020 (154)
104 1000Genomes NC_000016.9 - 23227362 Oct 12, 2018 (152)
105 The Avon Longitudinal Study of Parents and Children NC_000016.9 - 23227362 Oct 12, 2018 (152)
106 Genetic variation in the Estonian population NC_000016.9 - 23227362 Oct 12, 2018 (152)
107 The Danish reference pan genome NC_000016.9 - 23227362 Apr 27, 2020 (154)
108 gnomAD - Genomes NC_000016.9 - 23227362 Jul 13, 2019 (153)
109 Genome of the Netherlands Release 5 NC_000016.9 - 23227362 Apr 27, 2020 (154)
110 HapMap NC_000016.10 - 23216041 Apr 27, 2020 (154)
111 KOREAN population from KRGDB NC_000016.9 - 23227362 Apr 27, 2020 (154)
112 Northern Sweden NC_000016.9 - 23227362 Jul 13, 2019 (153)
113 The PAGE Study NC_000016.10 - 23216041 Jul 13, 2019 (153)
114 Qatari NC_000016.9 - 23227362 Apr 27, 2020 (154)
115 SGDP_PRJ NC_000016.9 - 23227362 Apr 27, 2020 (154)
116 Siberian NC_000016.9 - 23227362 Apr 27, 2020 (154)
117 TopMed NC_000016.10 - 23216041 Oct 12, 2018 (152)
118 UK 10K study - Twins NC_000016.9 - 23227362 Oct 12, 2018 (152)
119 A Vietnamese Genetic Variation Database NC_000016.9 - 23227362 Jul 13, 2019 (153)
120 dbGaP Population Frequency Project NC_000016.10 - 23216041 Apr 27, 2020 (154)
121 ClinVar RCV000290607.1 Oct 12, 2018 (152)
122 ClinVar RCV000347941.1 Oct 12, 2018 (152)
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)
rs17398783 Oct 08, 2004 (123)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss90348115, ss118220080, ss160744504, ss168018947, ss171099358, ss201551812, ss255582138, ss282474908, ss291935882, ss481152800, ss1696414084, ss1713532424, ss3643100506 NC_000016.8:23134862:A:G NC_000016.10:23216040:A:G (self)
68915446, 38253018, 27067315, 4088763, 188043700, 17064640, 40675342, 14704698, 17844726, 36183885, 9615800, 38253018, 8496878, ss227189594, ss236987206, ss243335185, ss481175123, ss482163486, ss485371584, ss537312980, ss564839408, ss660591058, ss778558585, ss783131399, ss784087893, ss832390300, ss834015419, ss992379735, ss1080553150, ss1355767906, ss1427807480, ss1577874723, ss1634199386, ss1677193419, ss1752186865, ss1808464932, ss1935802804, ss1946411776, ss1959668129, ss1968240644, ss2028688462, ss2157099446, ss2376079103, ss2628837417, ss2633305653, ss2701604948, ss2710830000, ss2941478091, ss3014241762, ss3021693938, ss3351383927, ss3625689103, ss3627498999, ss3631292888, ss3633117333, ss3633823166, ss3634636882, ss3635511549, ss3636327300, ss3637262969, ss3638118862, ss3640344201, ss3644664848, ss3646489520, ss3652100469, ss3681329067, ss3741419833, ss3744139714, ss3744937324, ss3753800734, ss3772435666, ss3788007639, ss3792996854, ss3797881759, ss3825876020, ss3834520994, ss3884166905, ss3933497948 NC_000016.9:23227361:A:G NC_000016.10:23216040:A:G (self)
RCV000290607.1, RCV000347941.1, 1365812, 1093761, 141563832, 272923610, ss2211330258, ss3028167638, ss3242751041, ss3650486914, ss3699028937, ss3725552341, ss3771872292, ss3819095100 NC_000016.10:23216040:A:G NC_000016.10:23216040:A:G (self)
ss14265187, ss16714359, ss21308171 NT_010393.14:14539694:A:G NC_000016.10:23216040:A:G (self)
ss7197, ss24447533, ss43807150, ss65743287, ss69341561, ss74881161, ss76866540, ss95213526, ss96630802, ss107932459, ss119337666, ss136633059, ss136773659, ss173925080 NT_010393.16:23167361:A:G NC_000016.10:23216040: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.

1 citation for rs5728
PMID Title Author Year Journal
21562341 Common variants in epithelial sodium channel genes contribute to salt sensitivity of blood pressure: The GenSalt study. Zhao Q et al. 2011 Circulation. Cardiovascular genetics
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.post557+f76c771