Name: rs5738
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.

rs5738

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr16:23189642 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.008768 (2725/310792, ALFA)
A=0.005958 (1577/264690, TOPMED)
A=0.005027 (1264/251464, GnomAD_exome) (+ 15 more)
A=0.005482 (769/140268, GnomAD)
A=0.004731 (574/121330, ExAC)
A=0.00440 (346/78702, PAGE_STUDY)
A=0.00007 (2/28258, 14KJPN)
A=0.00012 (2/16760, 8.3KJPN)
A=0.0025 (16/6404, 1000G_30x)
A=0.0026 (13/5008, 1000G)
A=0.0033 (15/4480, Estonian)
A=0.0096 (37/3854, ALSPAC)
A=0.0076 (28/3708, TWINSUK)
A=0.004 (4/998, GoNL)
A=0.012 (12/970, HapMap)
A=0.007 (4/534, MGP)
A=0.014 (3/216, Qatari)
A=0.03 (1/40, GENOME_DK)

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	327198	G=0.991406	A=0.008594	0.982916	0.000104	0.016981	1
European	Sub	280570	G=0.990690	A=0.009310	0.981495	0.000114	0.018391	1
African	Sub	13474	G=0.99866	A=0.00134	0.997328	0.0	0.002672	0
African Others	Sub	484	G=1.000	A=0.000	1.0	0.0	0.0	N/A
African American	Sub	12990	G=0.99861	A=0.00139	0.997229	0.0	0.002771	0
Asian	Sub	6900	G=1.0000	A=0.0000	1.0	0.0	0.0	N/A
East Asian	Sub	4946	G=1.0000	A=0.0000	1.0	0.0	0.0	N/A
Other Asian	Sub	1954	G=1.0000	A=0.0000	1.0	0.0	0.0	N/A
Latin American 1	Sub	1322	G=0.9932	A=0.0068	0.986384	0.0	0.013616	0
Latin American 2	Sub	2546	G=0.9945	A=0.0055	0.989002	0.0	0.010998	0
South Asian	Sub	366	G=1.000	A=0.000	1.0	0.0	0.0	N/A
Other	Sub	22020	G=0.99278	A=0.00722	0.985649	0.000091	0.01426	0

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
Allele Frequency Aggregator	Total	Global	310792	G=0.991232	A=0.008768
Allele Frequency Aggregator	European	Sub	270436	G=0.990615	A=0.009385
Allele Frequency Aggregator	Other	Sub	20586	G=0.99276	A=0.00724
Allele Frequency Aggregator	African	Sub	8636	G=0.9983	A=0.0017
Allele Frequency Aggregator	Asian	Sub	6900	G=1.0000	A=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	2546	G=0.9945	A=0.0055
Allele Frequency Aggregator	Latin American 1	Sub	1322	G=0.9932	A=0.0068
Allele Frequency Aggregator	South Asian	Sub	366	G=1.000	A=0.000
TopMed	Global	Study-wide	264690	G=0.994042	A=0.005958
gnomAD - Exomes	Global	Study-wide	251464	G=0.994973	A=0.005027
gnomAD - Exomes	European	Sub	135388	G=0.992850	A=0.007150
gnomAD - Exomes	Asian	Sub	49010	G=0.99994	A=0.00006
gnomAD - Exomes	American	Sub	34592	G=0.99480	A=0.00520
gnomAD - Exomes	African	Sub	16256	G=0.99877	A=0.00123
gnomAD - Exomes	Ashkenazi Jewish	Sub	10078	G=0.99494	A=0.00506
gnomAD - Exomes	Other	Sub	6140	G=0.9932	A=0.0068
gnomAD - Genomes	Global	Study-wide	140268	G=0.994518	A=0.005482
gnomAD - Genomes	European	Sub	75952	G=0.99256	A=0.00744
gnomAD - Genomes	African	Sub	42046	G=0.99819	A=0.00181
gnomAD - Genomes	American	Sub	13660	G=0.99312	A=0.00688
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	G=0.9943	A=0.0057
gnomAD - Genomes	East Asian	Sub	3132	G=1.0000	A=0.0000
gnomAD - Genomes	Other	Sub	2154	G=0.9930	A=0.0070
ExAC	Global	Study-wide	121330	G=0.995269	A=0.004731
ExAC	Europe	Sub	73284	G=0.99316	A=0.00684
ExAC	Asian	Sub	25162	G=0.99996	A=0.00004
ExAC	American	Sub	11578	G=0.99551	A=0.00449
ExAC	African	Sub	10400	G=0.99827	A=0.00173
ExAC	Other	Sub	906	G=0.998	A=0.002
The PAGE Study	Global	Study-wide	78702	G=0.99560	A=0.00440
The PAGE Study	AfricanAmerican	Sub	32516	G=0.99809	A=0.00191
The PAGE Study	Mexican	Sub	10810	G=0.99334	A=0.00666
The PAGE Study	Asian	Sub	8318	G=1.0000	A=0.0000
The PAGE Study	PuertoRican	Sub	7918	G=0.9866	A=0.0134
The PAGE Study	NativeHawaiian	Sub	4534	G=0.9960	A=0.0040
The PAGE Study	Cuban	Sub	4230	G=0.9922	A=0.0078
The PAGE Study	Dominican	Sub	3828	G=0.9948	A=0.0052
The PAGE Study	CentralAmerican	Sub	2450	G=0.9943	A=0.0057
The PAGE Study	SouthAmerican	Sub	1982	G=0.9950	A=0.0050
The PAGE Study	NativeAmerican	Sub	1260	G=0.9913	A=0.0087
The PAGE Study	SouthAsian	Sub	856	G=1.000	A=0.000
14KJPN	JAPANESE	Study-wide	28258	G=0.99993	A=0.00007
8.3KJPN	JAPANESE	Study-wide	16760	G=0.99988	A=0.00012
1000Genomes_30x	Global	Study-wide	6404	G=0.9975	A=0.0025
1000Genomes_30x	African	Sub	1786	G=1.0000	A=0.0000
1000Genomes_30x	Europe	Sub	1266	G=0.9889	A=0.0111
1000Genomes_30x	South Asian	Sub	1202	G=1.0000	A=0.0000
1000Genomes_30x	East Asian	Sub	1170	G=1.0000	A=0.0000
1000Genomes_30x	American	Sub	980	G=0.998	A=0.002
1000Genomes	Global	Study-wide	5008	G=0.9974	A=0.0026
1000Genomes	African	Sub	1322	G=1.0000	A=0.0000
1000Genomes	East Asian	Sub	1008	G=1.0000	A=0.0000
1000Genomes	Europe	Sub	1006	G=0.9891	A=0.0109
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=0.9967	A=0.0033
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.9904	A=0.0096
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.9924	A=0.0076
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.996	A=0.004
HapMap	Global	Study-wide	970	G=0.988	A=0.012
HapMap	American	Sub	322	G=0.978	A=0.022
HapMap	Asian	Sub	248	G=0.996	A=0.004
HapMap	African	Sub	226	G=0.996	A=0.004
HapMap	Europe	Sub	174	G=0.983	A=0.017
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.993	A=0.007
Qatari	Global	Study-wide	216	G=0.986	A=0.014
The Danish reference pan genome	Danish	Study-wide	40	G=0.97	A=0.03

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.23189642G>A
GRCh38.p14 chr 16	NC_000016.10:g.23189642G>C
GRCh37.p13 chr 16	NC_000016.9:g.23200963G>A
GRCh37.p13 chr 16	NC_000016.9:g.23200963G>C
SCNN1G RefSeqGene	NG_011909.1:g.11924G>A
SCNN1G RefSeqGene	NG_011909.1:g.11924G>C

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

Molecule type	Change	Amino acid[Codon]	SO Term
SCNN1G transcript	NM_001039.4:c.589G>A	E [GAG] > K [AAG]	Coding Sequence Variant
amiloride-sensitive sodium channel subunit gamma	NP_001030.2:p.Glu197Lys	E (Glu) > K (Lys)	Missense Variant
SCNN1G transcript	NM_001039.4:c.589G>C	E [GAG] > Q [CAG]	Coding Sequence Variant
amiloride-sensitive sodium channel subunit gamma	NP_001030.2:p.Glu197Gln	E (Glu) > Q (Gln)	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: 23868 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000009377.2	Bronchiectasis with or without elevated sweat chloride 3	Pathogenic
RCV000250994.1	not specified	Benign
RCV000334111.3	Liddle syndrome 2	Likely-Benign
RCV000388570.4	Autosomal recessive pseudohypoaldosteronism type 1	Benign-Likely-Benign
RCV000713392.8	not provided	Benign-Likely-Benign

Allele: C (allele ID: 874907 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001116637.2	Autosomal recessive pseudohypoaldosteronism type 1	Uncertain-Significance
RCV001116638.2	Liddle syndrome 2	Uncertain-Significance

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
GRCh38.p14 chr 16	NC_000016.10:g.23189642=	NC_000016.10:g.23189642G>A	NC_000016.10:g.23189642G>C
GRCh37.p13 chr 16	NC_000016.9:g.23200963=	NC_000016.9:g.23200963G>A	NC_000016.9:g.23200963G>C
SCNN1G RefSeqGene	NG_011909.1:g.11924=	NG_011909.1:g.11924G>A	NG_011909.1:g.11924G>C
SCNN1G transcript	NM_001039.4:c.589=	NM_001039.4:c.589G>A	NM_001039.4:c.589G>C
SCNN1G transcript	NM_001039.3:c.589=	NM_001039.3:c.589G>A	NM_001039.3:c.589G>C
amiloride-sensitive sodium channel subunit gamma	NP_001030.2:p.Glu197=	NP_001030.2:p.Glu197Lys	NP_001030.2:p.Glu197Gln

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#.

102 SubSNP, 18 Frequency, 7 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	ARAVINDA	ss7207	Sep 19, 2000 (52)
2	PERLEGEN	ss23437216	Sep 20, 2004 (126)
3	APPLERA_GI	ss48409808	Mar 10, 2006 (126)
4	PERLEGEN	ss69341553	May 18, 2007 (127)
5	ILLUMINA	ss74872093	Dec 07, 2007 (129)
6	RSG_JCVI	ss107932377	Feb 06, 2009 (130)
7	KRIBB_YJKIM	ss119337669	Dec 01, 2009 (131)
8	ILLUMINA	ss160744622	Dec 01, 2009 (131)
9	ILLUMINA	ss173925320	Jul 04, 2010 (132)
10	ILLUMINA	ss244303269	Jul 04, 2010 (132)
11	OMIM-CURATED-RECORDS	ss295476607	Feb 04, 2011 (133)
12	1000GENOMES	ss339178107	May 09, 2011 (134)
13	NHLBI-ESP	ss342423763	May 09, 2011 (134)
14	ILLUMINA	ss481153135	May 04, 2012 (137)
15	ILLUMINA	ss481175459	May 04, 2012 (137)
16	ILLUMINA	ss482163842	Sep 08, 2015 (146)
17	ILLUMINA	ss485371751	May 04, 2012 (137)
18	1000GENOMES	ss491099737	May 04, 2012 (137)
19	EXOME_CHIP	ss491506005	May 04, 2012 (137)
20	CLINSEQ_SNP	ss491715625	May 04, 2012 (137)
21	ILLUMINA	ss537313096	Sep 08, 2015 (146)
22	ILLUMINA	ss778930371	Sep 08, 2015 (146)
23	ILLUMINA	ss780717057	Sep 08, 2015 (146)
24	ILLUMINA	ss783131483	Sep 08, 2015 (146)
25	ILLUMINA	ss783392432	Sep 08, 2015 (146)
26	ILLUMINA	ss784087974	Sep 08, 2015 (146)
27	ILLUMINA	ss832390385	Sep 08, 2015 (146)
28	ILLUMINA	ss834391903	Sep 08, 2015 (146)
29	EVA-GONL	ss992379532	Aug 21, 2014 (142)
30	1000GENOMES	ss1355767180	Aug 21, 2014 (142)
31	EVA_GENOME_DK	ss1577874626	Apr 01, 2015 (144)
32	EVA_UK10K_ALSPAC	ss1634198976	Apr 01, 2015 (144)
33	EVA_UK10K_TWINSUK	ss1677193009	Apr 01, 2015 (144)
34	EVA_EXAC	ss1692209599	Apr 01, 2015 (144)
35	EVA_DECODE	ss1696413873	Apr 01, 2015 (144)
36	EVA_MGP	ss1711422893	Apr 01, 2015 (144)
37	ILLUMINA	ss1752186847	Sep 08, 2015 (146)
38	ILLUMINA	ss1752186848	Sep 08, 2015 (146)
39	ILLUMINA	ss1917905780	Feb 12, 2016 (147)
40	WEILL_CORNELL_DGM	ss1935802615	Feb 12, 2016 (147)
41	ILLUMINA	ss1946411762	Feb 12, 2016 (147)
42	ILLUMINA	ss1946411763	Feb 12, 2016 (147)
43	ILLUMINA	ss1959668105	Feb 12, 2016 (147)
44	ILLUMINA	ss1959668106	Feb 12, 2016 (147)
45	HUMAN_LONGEVITY	ss2211328615	Dec 20, 2016 (150)
46	ILLUMINA	ss2633305625	Nov 08, 2017 (151)
47	ILLUMINA	ss2710829993	Nov 08, 2017 (151)
48	GNOMAD	ss2741837483	Nov 08, 2017 (151)
49	GNOMAD	ss2749497737	Nov 08, 2017 (151)
50	GNOMAD	ss2941475991	Nov 08, 2017 (151)
51	AFFY	ss2985063607	Nov 08, 2017 (151)
52	SWEGEN	ss3014241457	Nov 08, 2017 (151)
53	ILLUMINA	ss3021693912	Nov 08, 2017 (151)
54	ILLUMINA	ss3021693913	Nov 08, 2017 (151)
55	CSHL	ss3351383815	Nov 08, 2017 (151)
56	ILLUMINA	ss3625689099	Oct 12, 2018 (152)
57	ILLUMINA	ss3627498938	Oct 12, 2018 (152)
58	ILLUMINA	ss3627498939	Oct 12, 2018 (152)
59	ILLUMINA	ss3631292866	Oct 12, 2018 (152)
60	ILLUMINA	ss3633823159	Oct 12, 2018 (152)
61	ILLUMINA	ss3634636864	Oct 12, 2018 (152)
62	ILLUMINA	ss3634636865	Oct 12, 2018 (152)
63	ILLUMINA	ss3635511543	Oct 12, 2018 (152)
64	ILLUMINA	ss3636327291	Oct 12, 2018 (152)
65	ILLUMINA	ss3637262962	Oct 12, 2018 (152)
66	ILLUMINA	ss3638118848	Oct 12, 2018 (152)
67	ILLUMINA	ss3640344183	Oct 12, 2018 (152)
68	ILLUMINA	ss3640344184	Oct 12, 2018 (152)
69	ILLUMINA	ss3643100490	Oct 12, 2018 (152)
70	ILLUMINA	ss3644664834	Oct 12, 2018 (152)
71	ILLUMINA	ss3644664835	Oct 12, 2018 (152)
72	ILLUMINA	ss3652100443	Oct 12, 2018 (152)
73	ILLUMINA	ss3652100444	Oct 12, 2018 (152)
74	ILLUMINA	ss3653836075	Oct 12, 2018 (152)
75	EGCUT_WGS	ss3681328730	Jul 13, 2019 (153)
76	EVA_DECODE	ss3699028454	Jul 13, 2019 (153)
77	ILLUMINA	ss3725552317	Jul 13, 2019 (153)
78	ILLUMINA	ss3744139711	Jul 13, 2019 (153)
79	ILLUMINA	ss3744430056	Jul 13, 2019 (153)
80	ILLUMINA	ss3744937306	Jul 13, 2019 (153)
81	ILLUMINA	ss3744937307	Jul 13, 2019 (153)
82	PAGE_CC	ss3771872272	Jul 13, 2019 (153)
83	ILLUMINA	ss3772435648	Jul 13, 2019 (153)
84	ILLUMINA	ss3772435649	Jul 13, 2019 (153)
85	EVA	ss3824998239	Apr 27, 2020 (154)
86	EVA	ss3825876006	Apr 27, 2020 (154)
87	EVA	ss3986680373	Apr 26, 2021 (155)
88	EVA	ss4017730684	Apr 26, 2021 (155)
89	TOPMED	ss5011009158	Apr 26, 2021 (155)
90	TOMMO_GENOMICS	ss5218917612	Apr 26, 2021 (155)
91	EVA	ss5237666062	Oct 16, 2022 (156)
92	1000G_HIGH_COVERAGE	ss5300493272	Oct 16, 2022 (156)
93	EVA	ss5422931336	Oct 16, 2022 (156)
94	HUGCELL_USP	ss5493946752	Oct 16, 2022 (156)
95	1000G_HIGH_COVERAGE	ss5602892869	Oct 16, 2022 (156)
96	TOMMO_GENOMICS	ss5773540766	Oct 16, 2022 (156)
97	EVA	ss5846239762	Oct 16, 2022 (156)
98	EVA	ss5847767065	Oct 16, 2022 (156)
99	EVA	ss5848421370	Oct 16, 2022 (156)
100	EVA	ss5898643624	Oct 16, 2022 (156)
101	EVA	ss5950080394	Oct 16, 2022 (156)
102	EVA	ss5979481577	Oct 16, 2022 (156)
103	1000Genomes	NC_000016.9 - 23200963	Oct 12, 2018 (152)
104	1000Genomes_30x	NC_000016.10 - 23189642	Oct 16, 2022 (156)
105	The Avon Longitudinal Study of Parents and Children	NC_000016.9 - 23200963	Oct 12, 2018 (152)
106	Genetic variation in the Estonian population	NC_000016.9 - 23200963	Oct 12, 2018 (152)
107	ExAC	NC_000016.9 - 23200963	Oct 12, 2018 (152)
108	The Danish reference pan genome	NC_000016.9 - 23200963	Apr 27, 2020 (154)
109	gnomAD - Genomes	NC_000016.10 - 23189642	Apr 26, 2021 (155)
110	gnomAD - Exomes	NC_000016.9 - 23200963	Jul 13, 2019 (153)
111	Genome of the Netherlands Release 5	NC_000016.9 - 23200963	Apr 27, 2020 (154)
112	HapMap	NC_000016.10 - 23189642	Apr 27, 2020 (154)
113	Medical Genome Project healthy controls from Spanish population	NC_000016.9 - 23200963	Apr 27, 2020 (154)
114	The PAGE Study	NC_000016.10 - 23189642	Jul 13, 2019 (153)
115	Qatari	NC_000016.9 - 23200963	Apr 27, 2020 (154)
116	8.3KJPN	NC_000016.9 - 23200963	Apr 26, 2021 (155)
117	14KJPN	NC_000016.10 - 23189642	Oct 16, 2022 (156)
118	TopMed	NC_000016.10 - 23189642	Apr 26, 2021 (155)
119	UK 10K study - Twins	NC_000016.9 - 23200963	Oct 12, 2018 (152)
120	ALFA	NC_000016.10 - 23189642	Apr 26, 2021 (155)
121	ClinVar	RCV000009377.2	Oct 12, 2018 (152)
122	ClinVar	RCV000250994.1	Oct 12, 2018 (152)
123	ClinVar	RCV000334111.3	Oct 16, 2022 (156)
124	ClinVar	RCV000388570.4	Oct 16, 2022 (156)
125	ClinVar	RCV000713392.8	Oct 16, 2022 (156)
126	ClinVar	RCV001116637.2	Oct 16, 2022 (156)
127	ClinVar	RCV001116638.2	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)
rs16977032	Mar 10, 2006 (126)
rs17403407	Mar 10, 2006 (126)
rs386599576	Aug 06, 2014 (136)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss481153135, ss491715625, ss1696413873, ss3643100490	NC_000016.8:23108463:G:A	NC_000016.10:23189641:G:A	(self)
68914701, 38252572, 27066978, 2610458, 4088671, 11115789, 17064444, 538653, 17844537, 76886919, 38252572, ss339178107, ss342423763, ss481175459, ss482163842, ss485371751, ss491099737, ss491506005, ss537313096, ss778930371, ss780717057, ss783131483, ss783392432, ss784087974, ss832390385, ss834391903, ss992379532, ss1355767180, ss1577874626, ss1634198976, ss1677193009, ss1692209599, ss1711422893, ss1752186847, ss1752186848, ss1917905780, ss1935802615, ss1946411762, ss1946411763, ss1959668105, ss1959668106, ss2633305625, ss2710829993, ss2741837483, ss2749497737, ss2941475991, ss2985063607, ss3014241457, ss3021693912, ss3021693913, ss3351383815, ss3625689099, ss3627498938, ss3627498939, ss3631292866, ss3633823159, ss3634636864, ss3634636865, ss3635511543, ss3636327291, ss3637262962, ss3638118848, ss3640344183, ss3640344184, ss3644664834, ss3644664835, ss3652100443, ss3652100444, ss3653836075, ss3681328730, ss3744139711, ss3744430056, ss3744937306, ss3744937307, ss3772435648, ss3772435649, ss3824998239, ss3825876006, ss3986680373, ss4017730684, ss5218917612, ss5422931336, ss5846239762, ss5847767065, ss5848421370, ss5950080394, ss5979481577	NC_000016.9:23200962:G:A	NC_000016.10:23189641:G:A	(self)
RCV000009377.2, RCV000250994.1, RCV000334111.3, RCV000388570.4, RCV000713392.8, 90418804, 485706815, 1365782, 1093741, 107377870, 226554819, 3371107942, ss295476607, ss2211328615, ss3699028454, ss3725552317, ss3771872272, ss5011009158, ss5237666062, ss5300493272, ss5493946752, ss5602892869, ss5773540766, ss5898643624	NC_000016.10:23189641:G:A	NC_000016.10:23189641:G:A	(self)
ss7207, ss23437216, ss48409808, ss69341553, ss74872093, ss107932377, ss119337669, ss160744622, ss173925320, ss244303269	NT_010393.16:23140962:G:A	NC_000016.10:23189641:G:A	(self)
RCV001116637.2, RCV001116638.2	NC_000016.10:23189641:G:C	NC_000016.10:23189641:G:C	(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 rs5738

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
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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

rs5738