Name: rs5736
Published: September 21, 2022
License: Open Access

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.

rs5736

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr16:23189600 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.002693 (816/303034, ALFA)
A=0.013140 (3478/264690, TOPMED)
A=0.004088 (1028/251488, GnomAD_exome) (+ 19 more)
A=0.012057 (1691/140256, GnomAD)
A=0.004753 (577/121392, ExAC)
A=0.01938 (1525/78696, PAGE_STUDY)
A=0.01200 (339/28258, 14KJPN)
A=0.01289 (216/16760, 8.3KJPN)
A=0.0137 (88/6404, 1000G_30x)
A=0.0146 (73/5008, 1000G)
A=0.0002 (1/4480, Estonian)
A=0.0010 (4/3854, ALSPAC)
A=0.0008 (3/3708, TWINSUK)
A=0.0082 (24/2922, KOREAN)
A=0.0147 (27/1832, Korea1K)
A=0.0442 (63/1424, HapMap)
A=0.0045 (5/1120, Daghestan)
A=0.001 (1/998, GoNL)
A=0.006 (4/616, Vietnamese)
A=0.009 (2/216, Qatari)
G=0.5 (3/6, SGDP_PRJ)
A=0.5 (3/6, SGDP_PRJ)

Clinical Significance: Reported in ClinVar
Gene : Consequence: SCNN1G : Missense Variant
Publications: 2 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	319444	G=0.996804	A=0.003196	0.993783	0.000175	0.006042	32
European	Sub	274374	G=0.999154	A=0.000846	0.998345	0.000036	0.001618	32
African	Sub	16046	G=0.96373	A=0.03627	0.929951	0.002493	0.067556	5
African Others	Sub	568	G=0.956	A=0.044	0.911972	0.0	0.088028	0
African American	Sub	15478	G=0.96401	A=0.03599	0.930611	0.002584	0.066804	6
Asian	Sub	3942	G=0.9838	A=0.0162	0.968037	0.000507	0.031456	0
East Asian	Sub	3154	G=0.9911	A=0.0089	0.982245	0.0	0.017755	0
Other Asian	Sub	788	G=0.954	A=0.046	0.911168	0.002538	0.086294	0
Latin American 1	Sub	1316	G=0.9833	A=0.0167	0.966565	0.0	0.033435	0
Latin American 2	Sub	2528	G=0.9968	A=0.0032	0.993671	0.0	0.006329	0
South Asian	Sub	366	G=1.000	A=0.000	1.0	0.0	0.0	N/A
Other	Sub	20872	G=0.99459	A=0.00541	0.989364	0.000192	0.010445	6

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	303034	G=0.997307	A=0.002693
Allele Frequency Aggregator	European	Sub	264236	G=0.999152	A=0.000848
Allele Frequency Aggregator	Other	Sub	19438	G=0.99470	A=0.00530
Allele Frequency Aggregator	African	Sub	11208	G=0.96476	A=0.03524
Allele Frequency Aggregator	Asian	Sub	3942	G=0.9838	A=0.0162
Allele Frequency Aggregator	Latin American 2	Sub	2528	G=0.9968	A=0.0032
Allele Frequency Aggregator	Latin American 1	Sub	1316	G=0.9833	A=0.0167
Allele Frequency Aggregator	South Asian	Sub	366	G=1.000	A=0.000
TopMed	Global	Study-wide	264690	G=0.986860	A=0.013140
gnomAD - Exomes	Global	Study-wide	251488	G=0.995912	A=0.004088
gnomAD - Exomes	European	Sub	135412	G=0.999402	A=0.000598
gnomAD - Exomes	Asian	Sub	49010	G=0.99576	A=0.00424
gnomAD - Exomes	American	Sub	34590	G=0.99696	A=0.00304
gnomAD - Exomes	African	Sub	16256	G=0.96272	A=0.03728
gnomAD - Exomes	Ashkenazi Jewish	Sub	10080	G=1.00000	A=0.00000
gnomAD - Exomes	Other	Sub	6140	G=0.9954	A=0.0046
gnomAD - Genomes	Global	Study-wide	140256	G=0.987943	A=0.012057
gnomAD - Genomes	European	Sub	75950	G=0.99933	A=0.00067
gnomAD - Genomes	African	Sub	42042	G=0.96404	A=0.03596
gnomAD - Genomes	American	Sub	13658	G=0.99466	A=0.00534
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	G=1.0000	A=0.0000
gnomAD - Genomes	East Asian	Sub	3134	G=0.9876	A=0.0124
gnomAD - Genomes	Other	Sub	2152	G=0.9926	A=0.0074
ExAC	Global	Study-wide	121392	G=0.995247	A=0.004753
ExAC	Europe	Sub	73336	G=0.99941	A=0.00059
ExAC	Asian	Sub	25164	G=0.99571	A=0.00429
ExAC	American	Sub	11578	G=0.99706	A=0.00294
ExAC	African	Sub	10406	G=0.96262	A=0.03738
ExAC	Other	Sub	908	G=0.997	A=0.003
The PAGE Study	Global	Study-wide	78696	G=0.98062	A=0.01938
The PAGE Study	AfricanAmerican	Sub	32512	G=0.96620	A=0.03380
The PAGE Study	Mexican	Sub	10808	G=0.99602	A=0.00398
The PAGE Study	Asian	Sub	8318	G=0.9853	A=0.0147
The PAGE Study	PuertoRican	Sub	7918	G=0.9912	A=0.0088
The PAGE Study	NativeHawaiian	Sub	4534	G=0.9929	A=0.0071
The PAGE Study	Cuban	Sub	4230	G=0.9913	A=0.0087
The PAGE Study	Dominican	Sub	3828	G=0.9768	A=0.0232
The PAGE Study	CentralAmerican	Sub	2450	G=0.9922	A=0.0078
The PAGE Study	SouthAmerican	Sub	1982	G=0.9970	A=0.0030
The PAGE Study	NativeAmerican	Sub	1260	G=0.9952	A=0.0048
The PAGE Study	SouthAsian	Sub	856	G=0.998	A=0.002
14KJPN	JAPANESE	Study-wide	28258	G=0.98800	A=0.01200
8.3KJPN	JAPANESE	Study-wide	16760	G=0.98711	A=0.01289
1000Genomes_30x	Global	Study-wide	6404	G=0.9863	A=0.0137
1000Genomes_30x	African	Sub	1786	G=0.9580	A=0.0420
1000Genomes_30x	Europe	Sub	1266	G=0.9984	A=0.0016
1000Genomes_30x	South Asian	Sub	1202	G=1.0000	A=0.0000
1000Genomes_30x	East Asian	Sub	1170	G=0.9923	A=0.0077
1000Genomes_30x	American	Sub	980	G=0.998	A=0.002
1000Genomes	Global	Study-wide	5008	G=0.9854	A=0.0146
1000Genomes	African	Sub	1322	G=0.9539	A=0.0461
1000Genomes	East Asian	Sub	1008	G=0.9911	A=0.0089
1000Genomes	Europe	Sub	1006	G=0.9990	A=0.0010
1000Genomes	South Asian	Sub	978	G=1.000	A=0.000
1000Genomes	American	Sub	694	G=0.997	A=0.003
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.9998	A=0.0002
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.9990	A=0.0010
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.9992	A=0.0008
KOREAN population from KRGDB	KOREAN	Study-wide	2922	G=0.9918	A=0.0082
Korean Genome Project	KOREAN	Study-wide	1832	G=0.9853	A=0.0147
HapMap	Global	Study-wide	1424	G=0.9558	A=0.0442
HapMap	African	Sub	682	G=0.916	A=0.084
HapMap	American	Sub	488	G=0.992	A=0.008
HapMap	Asian	Sub	254	G=0.992	A=0.008
Genome-wide autozygosity in Daghestan	Global	Study-wide	1120	G=0.9955	A=0.0045
Genome-wide autozygosity in Daghestan	Daghestan	Sub	614	G=0.992	A=0.008
Genome-wide autozygosity in Daghestan	Near_East	Sub	142	G=1.000	A=0.000
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	G=1.000	A=0.000
Genome-wide autozygosity in Daghestan	Europe	Sub	108	G=1.000	A=0.000
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	G=1.00	A=0.00
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	G=1.00	A=0.00
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.999	A=0.001
A Vietnamese Genetic Variation Database	Global	Study-wide	616	G=0.994	A=0.006
Qatari	Global	Study-wide	216	G=0.991	A=0.009
SGDP_PRJ	Global	Study-wide	6	G=0.5	A=0.5

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 16	NC_000016.10:g.23189600G>A
GRCh37.p13 chr 16	NC_000016.9:g.23200921G>A
SCNN1G RefSeqGene	NG_011909.1:g.11882G>A

Gene: SCNN1G, sodium channel epithelial 1 subunit gamma (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SCNN1G transcript	NM_001039.4:c.547G>A	G [GGC] > S [AGC]	Coding Sequence Variant
epithelial sodium channel subunit gamma	NP_001030.2:p.Gly183Ser	G (Gly) > S (Ser)	Missense Variant

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: 23867 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000009376.3	Bronchiectasis with or without elevated sweat chloride 3	Pathogenic
RCV000224250.6	not provided	Benign
RCV000272918.4	Autosomal recessive pseudohypoaldosteronism type 1	Benign-Likely-Benign
RCV000328044.3	Liddle syndrome 2	Likely-Benign
RCV000609005.3	not specified	Benign

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
GRCh38.p14 chr 16	NC_000016.10:g.23189600=	NC_000016.10:g.23189600G>A
GRCh37.p13 chr 16	NC_000016.9:g.23200921=	NC_000016.9:g.23200921G>A
SCNN1G RefSeqGene	NG_011909.1:g.11882=	NG_011909.1:g.11882G>A
SCNN1G transcript	NM_001039.4:c.547=	NM_001039.4:c.547G>A
SCNN1G transcript	NM_001039.3:c.547=	NM_001039.3:c.547G>A
epithelial sodium channel subunit gamma	NP_001030.2:p.Gly183=	NP_001030.2:p.Gly183Ser

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#.

113 SubSNP, 23 Frequency, 5 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	ARAVINDA	ss7205	Sep 19, 2000 (52)
2	IMCJ-GDT	ss22887743	Apr 05, 2004 (123)
3	PERLEGEN	ss23437191	Sep 20, 2004 (123)
4	APPLERA_GI	ss48409810	Mar 14, 2006 (126)
5	PERLEGEN	ss69341552	May 18, 2007 (127)
6	ILLUMINA	ss74885511	Dec 07, 2007 (129)
7	RSG_JCVI	ss107932375	Feb 05, 2009 (130)
8	KRIBB_YJKIM	ss119337668	Dec 01, 2009 (131)
9	ILLUMINA	ss160744597	Dec 01, 2009 (131)
10	ILLUMINA	ss173925272	Jul 04, 2010 (132)
11	BUSHMAN	ss201551549	Jul 04, 2010 (132)
12	ILLUMINA	ss244303267	Jul 04, 2010 (132)
13	OMIM-CURATED-RECORDS	ss295476606	Feb 04, 2011 (133)
14	1000GENOMES	ss339178106	May 09, 2011 (134)
15	NHLBI-ESP	ss342423761	May 09, 2011 (134)
16	ILLUMINA	ss481153072	May 04, 2012 (137)
17	ILLUMINA	ss481175396	May 04, 2012 (137)
18	ILLUMINA	ss482163766	Sep 08, 2015 (146)
19	ILLUMINA	ss485371721	May 04, 2012 (137)
20	1000GENOMES	ss491099735	May 04, 2012 (137)
21	EXOME_CHIP	ss491506004	May 04, 2012 (137)
22	CLINSEQ_SNP	ss491715623	May 04, 2012 (137)
23	ILLUMINA	ss537313072	Sep 08, 2015 (146)
24	SSMP	ss660590909	Apr 25, 2013 (138)
25	ILLUMINA	ss778930363	Sep 08, 2015 (146)
26	ILLUMINA	ss780717056	Sep 08, 2015 (146)
27	ILLUMINA	ss783131467	Sep 08, 2015 (146)
28	ILLUMINA	ss783392431	Sep 08, 2015 (146)
29	ILLUMINA	ss784087958	Sep 08, 2015 (146)
30	ILLUMINA	ss832390369	Sep 08, 2015 (146)
31	ILLUMINA	ss834391895	Sep 08, 2015 (146)
32	EVA-GONL	ss992379530	Aug 21, 2014 (142)
33	JMKIDD_LAB	ss1067560138	Aug 21, 2014 (142)
34	JMKIDD_LAB	ss1080553008	Aug 21, 2014 (142)
35	1000GENOMES	ss1355767177	Aug 21, 2014 (142)
36	HAMMER_LAB	ss1397712985	Sep 08, 2015 (146)
37	EVA_UK10K_ALSPAC	ss1634198974	Apr 01, 2015 (144)
38	EVA_UK10K_TWINSUK	ss1677193007	Apr 01, 2015 (144)
39	EVA_EXAC	ss1692209590	Apr 01, 2015 (144)
40	EVA_SVP	ss1713532406	Apr 01, 2015 (144)
41	ILLUMINA	ss1752186845	Sep 08, 2015 (146)
42	ILLUMINA	ss1752186846	Sep 08, 2015 (146)
43	ILLUMINA	ss1917905779	Feb 12, 2016 (147)
44	WEILL_CORNELL_DGM	ss1935802613	Feb 12, 2016 (147)
45	ILLUMINA	ss1946411760	Feb 12, 2016 (147)
46	ILLUMINA	ss1946411761	Feb 12, 2016 (147)
47	ILLUMINA	ss1959668103	Feb 12, 2016 (147)
48	ILLUMINA	ss1959668104	Feb 12, 2016 (147)
49	HUMAN_LONGEVITY	ss2211328610	Dec 20, 2016 (150)
50	ILLUMINA	ss2633305623	Nov 08, 2017 (151)
51	GRF	ss2701604798	Nov 08, 2017 (151)
52	ILLUMINA	ss2710829992	Nov 08, 2017 (151)
53	GNOMAD	ss2741837473	Nov 08, 2017 (151)
54	GNOMAD	ss2749497732	Nov 08, 2017 (151)
55	GNOMAD	ss2941475986	Nov 08, 2017 (151)
56	AFFY	ss2985063606	Nov 08, 2017 (151)
57	ILLUMINA	ss3021693910	Nov 08, 2017 (151)
58	ILLUMINA	ss3021693911	Nov 08, 2017 (151)
59	ILLUMINA	ss3625689098	Oct 12, 2018 (152)
60	ILLUMINA	ss3627498934	Oct 12, 2018 (152)
61	ILLUMINA	ss3627498935	Oct 12, 2018 (152)
62	ILLUMINA	ss3631292864	Oct 12, 2018 (152)
63	ILLUMINA	ss3633117327	Oct 12, 2018 (152)
64	ILLUMINA	ss3633823158	Oct 12, 2018 (152)
65	ILLUMINA	ss3634636862	Oct 12, 2018 (152)
66	ILLUMINA	ss3634636863	Oct 12, 2018 (152)
67	ILLUMINA	ss3635511542	Oct 12, 2018 (152)
68	ILLUMINA	ss3636327289	Oct 12, 2018 (152)
69	ILLUMINA	ss3637262961	Oct 12, 2018 (152)
70	ILLUMINA	ss3638118846	Oct 12, 2018 (152)
71	ILLUMINA	ss3640344181	Oct 12, 2018 (152)
72	ILLUMINA	ss3640344182	Oct 12, 2018 (152)
73	ILLUMINA	ss3643100488	Oct 12, 2018 (152)
74	ILLUMINA	ss3644664832	Oct 12, 2018 (152)
75	ILLUMINA	ss3644664833	Oct 12, 2018 (152)
76	ILLUMINA	ss3652100441	Oct 12, 2018 (152)
77	ILLUMINA	ss3652100442	Oct 12, 2018 (152)
78	ILLUMINA	ss3653836074	Oct 12, 2018 (152)
79	EGCUT_WGS	ss3681328728	Jul 13, 2019 (153)
80	EVA_DECODE	ss3699028451	Jul 13, 2019 (153)
81	ILLUMINA	ss3725552316	Jul 13, 2019 (153)
82	ILLUMINA	ss3744139710	Jul 13, 2019 (153)
83	ILLUMINA	ss3744430055	Jul 13, 2019 (153)
84	ILLUMINA	ss3744937304	Jul 13, 2019 (153)
85	ILLUMINA	ss3744937305	Jul 13, 2019 (153)
86	EVA	ss3753800477	Jul 13, 2019 (153)
87	PAGE_CC	ss3771872271	Jul 13, 2019 (153)
88	ILLUMINA	ss3772435646	Jul 13, 2019 (153)
89	ILLUMINA	ss3772435647	Jul 13, 2019 (153)
90	KHV_HUMAN_GENOMES	ss3819094883	Jul 13, 2019 (153)
91	EVA	ss3824998235	Apr 27, 2020 (154)
92	SGDP_PRJ	ss3884166531	Apr 27, 2020 (154)
93	KRGDB	ss3933497477	Apr 27, 2020 (154)
94	KOGIC	ss3977288918	Apr 27, 2020 (154)
95	FSA-LAB	ss3984090369	Apr 26, 2021 (155)
96	EVA	ss3984711252	Apr 26, 2021 (155)
97	EVA	ss3984711253	Apr 26, 2021 (155)
98	EVA	ss3986680371	Apr 26, 2021 (155)
99	EVA	ss4017730683	Apr 26, 2021 (155)
100	TOPMED	ss5011009145	Apr 26, 2021 (155)
101	TOMMO_GENOMICS	ss5218917609	Apr 26, 2021 (155)
102	1000G_HIGH_COVERAGE	ss5300493269	Oct 16, 2022 (156)
103	TRAN_CS_UWATERLOO	ss5314443733	Oct 16, 2022 (156)
104	EVA	ss5315831020	Oct 16, 2022 (156)
105	EVA	ss5422931331	Oct 16, 2022 (156)
106	HUGCELL_USP	ss5493946749	Oct 16, 2022 (156)
107	1000G_HIGH_COVERAGE	ss5602892865	Oct 16, 2022 (156)
108	SANFORD_IMAGENETICS	ss5658663019	Oct 16, 2022 (156)
109	TOMMO_GENOMICS	ss5773540761	Oct 16, 2022 (156)
110	EVA	ss5846239759	Oct 16, 2022 (156)
111	EVA	ss5847767064	Oct 16, 2022 (156)
112	EVA	ss5898643621	Oct 16, 2022 (156)
113	EVA	ss5950080392	Oct 16, 2022 (156)
114	1000Genomes	NC_000016.9 - 23200921	Oct 12, 2018 (152)
115	1000Genomes_30x	NC_000016.10 - 23189600	Oct 16, 2022 (156)
116	The Avon Longitudinal Study of Parents and Children	NC_000016.9 - 23200921	Oct 12, 2018 (152)
117	Genome-wide autozygosity in Daghestan	NC_000016.8 - 23108422	Apr 27, 2020 (154)
118	Genetic variation in the Estonian population	NC_000016.9 - 23200921	Oct 12, 2018 (152)
119	ExAC	NC_000016.9 - 23200921	Oct 12, 2018 (152)
120	gnomAD - Genomes	NC_000016.10 - 23189600	Apr 26, 2021 (155)
121	gnomAD - Exomes	NC_000016.9 - 23200921	Jul 13, 2019 (153)
122	Genome of the Netherlands Release 5	NC_000016.9 - 23200921	Apr 27, 2020 (154)
123	HapMap	NC_000016.10 - 23189600	Apr 27, 2020 (154)
124	KOREAN population from KRGDB	NC_000016.9 - 23200921	Apr 27, 2020 (154)
125	Korean Genome Project	NC_000016.10 - 23189600	Apr 27, 2020 (154)
126	The PAGE Study	NC_000016.10 - 23189600	Jul 13, 2019 (153)
127	CNV burdens in cranial meningiomas Submission ignored due to conflicting rows: Row 260786 (NC_000016.9:23200920:G:A 4/792) Row 260787 (NC_000016.9:23200920:G:A 4/792)	-	Apr 26, 2021 (155)
128	CNV burdens in cranial meningiomas Submission ignored due to conflicting rows: Row 260786 (NC_000016.9:23200920:G:A 4/792) Row 260787 (NC_000016.9:23200920:G:A 4/792)	-	Apr 26, 2021 (155)
129	Qatari	NC_000016.9 - 23200921	Apr 27, 2020 (154)
130	SGDP_PRJ	NC_000016.9 - 23200921	Apr 27, 2020 (154)
131	8.3KJPN	NC_000016.9 - 23200921	Apr 26, 2021 (155)
132	14KJPN	NC_000016.10 - 23189600	Oct 16, 2022 (156)
133	TopMed	NC_000016.10 - 23189600	Apr 26, 2021 (155)
134	UK 10K study - Twins	NC_000016.9 - 23200921	Oct 12, 2018 (152)
135	A Vietnamese Genetic Variation Database	NC_000016.9 - 23200921	Jul 13, 2019 (153)
136	ALFA	NC_000016.10 - 23189600	Apr 26, 2021 (155)
137	ClinVar	RCV000009376.3	Jul 13, 2019 (153)
138	ClinVar	RCV000224250.6	Oct 16, 2022 (156)
139	ClinVar	RCV000272918.4	Oct 16, 2022 (156)
140	ClinVar	RCV000328044.3	Oct 16, 2022 (156)
141	ClinVar	RCV000609005.3	Oct 16, 2022 (156)

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)
rs13306662	Sep 24, 2004 (123)
rs16977030	Oct 08, 2004 (123)
rs386599567	Aug 06, 2014 (136)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
183009, ss201551549, ss481153072, ss491715623, ss1397712985, ss1713532406, ss3643100488	NC_000016.8:23108421:G:A	NC_000016.10:23189599:G:A	(self)
68914698, 38252570, 27066976, 2610447, 11115777, 17064442, 40674871, 17844535, 36183511, 76886916, 38252570, 8496753, ss339178106, ss342423761, ss481175396, ss482163766, ss485371721, ss491099735, ss491506004, ss537313072, ss660590909, ss778930363, ss780717056, ss783131467, ss783392431, ss784087958, ss832390369, ss834391895, ss992379530, ss1067560138, ss1080553008, ss1355767177, ss1634198974, ss1677193007, ss1692209590, ss1752186845, ss1752186846, ss1917905779, ss1935802613, ss1946411760, ss1946411761, ss1959668103, ss1959668104, ss2633305623, ss2701604798, ss2710829992, ss2741837473, ss2749497732, ss2941475986, ss2985063606, ss3021693910, ss3021693911, ss3625689098, ss3627498934, ss3627498935, ss3631292864, ss3633117327, ss3633823158, ss3634636862, ss3634636863, ss3635511542, ss3636327289, ss3637262961, ss3638118846, ss3640344181, ss3640344182, ss3644664832, ss3644664833, ss3652100441, ss3652100442, ss3653836074, ss3681328728, ss3744139710, ss3744430055, ss3744937304, ss3744937305, ss3753800477, ss3772435646, ss3772435647, ss3824998235, ss3884166531, ss3933497477, ss3984090369, ss3984711252, ss3984711253, ss3986680371, ss4017730683, ss5218917609, ss5315831020, ss5422931331, ss5658663019, ss5846239759, ss5847767064, ss5950080392	NC_000016.9:23200920:G:A	NC_000016.10:23189599:G:A	(self)
RCV000009376.3, RCV000224250.6, RCV000272918.4, RCV000328044.3, RCV000609005.3, 90418800, 485706805, 1365780, 33666919, 1093740, 107377865, 226554806, 8561900451, ss295476606, ss2211328610, ss3699028451, ss3725552316, ss3771872271, ss3819094883, ss3977288918, ss5011009145, ss5300493269, ss5314443733, ss5493946749, ss5602892865, ss5773540761, ss5898643621	NC_000016.10:23189599:G:A	NC_000016.10:23189599:G:A	(self)
ss7205, ss22887743, ss23437191, ss48409810, ss69341552, ss74885511, ss107932375, ss119337668, ss160744597, ss173925272, ss244303267	NT_010393.16:23140920:G:A	NC_000016.10:23189599:G:A	(self)

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

2 citations for rs5736

PMID	Title	Author	Year	Journal
18507830	Could a defective epithelial sodium channel lead to bronchiectasis.	Fajac I et al.	2008	Respiratory research
25741868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S et al.	2015	Genetics in medicine

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs5736