Name: rs35576676
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.

rs35576676

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:107783328 (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=0.006782 (1795/264690, TOPMED)
A=0.008811 (2212/251054, GnomAD_exome)
A=0.006211 (871/140228, GnomAD) (+ 18 more)
A=0.009078 (1101/121282, ExAC)
A=0.00615 (427/69392, ALFA)
A=0.00060 (17/28258, 14KJPN)
A=0.00084 (14/16758, 8.3KJPN)
A=0.00507 (66/13006, GO-ESP)
A=0.0117 (75/6404, 1000G_30x)
A=0.0110 (55/5008, 1000G)
A=0.0004 (2/4480, Estonian)
A=0.0036 (14/3854, ALSPAC)
A=0.0070 (26/3708, TWINSUK)
A=0.0014 (4/2922, KOREAN)
A=0.0011 (2/1832, Korea1K)
A=0.0158 (18/1136, Daghestan)
A=0.001 (1/998, GoNL)
A=0.009 (5/534, MGP)
A=0.014 (3/216, Qatari)
G=0.50 (8/16, SGDP_PRJ)
A=0.50 (8/16, SGDP_PRJ)

Clinical Significance: Reported in ClinVar
Gene : Consequence: SLC26A3 : Synonymous 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	69392	G=0.99385	A=0.00615
European	Sub	51572	G=0.99484	A=0.00516
African	Sub	5576	G=0.9898	A=0.0102
African Others	Sub	188	G=0.984	A=0.016
African American	Sub	5388	G=0.9900	A=0.0100
Asian	Sub	498	G=0.996	A=0.004
East Asian	Sub	400	G=0.995	A=0.005
Other Asian	Sub	98	G=1.00	A=0.00
Latin American 1	Sub	876	G=0.987	A=0.013
Latin American 2	Sub	860	G=0.994	A=0.006
South Asian	Sub	162	G=0.969	A=0.031
Other	Sub	9848	G=0.9918	A=0.0082

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
TopMed	Global	Study-wide	264690	G=0.993218	A=0.006782
gnomAD - Exomes	Global	Study-wide	251054	G=0.991189	A=0.008811
gnomAD - Exomes	European	Sub	135010	G=0.996156	A=0.003844
gnomAD - Exomes	Asian	Sub	49008	G=0.97743	A=0.02257
gnomAD - Exomes	American	Sub	34586	G=0.99705	A=0.00295
gnomAD - Exomes	African	Sub	16256	G=0.98973	A=0.01027
gnomAD - Exomes	Ashkenazi Jewish	Sub	10072	G=0.97329	A=0.02671
gnomAD - Exomes	Other	Sub	6122	G=0.9920	A=0.0080
gnomAD - Genomes	Global	Study-wide	140228	G=0.993789	A=0.006211
gnomAD - Genomes	European	Sub	75930	G=0.99644	A=0.00356
gnomAD - Genomes	African	Sub	42040	G=0.98937	A=0.01063
gnomAD - Genomes	American	Sub	13650	G=0.99619	A=0.00381
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	G=0.9783	A=0.0217
gnomAD - Genomes	East Asian	Sub	3134	G=0.9959	A=0.0041
gnomAD - Genomes	Other	Sub	2154	G=0.9921	A=0.0079
ExAC	Global	Study-wide	121282	G=0.990922	A=0.009078
ExAC	Europe	Sub	73294	G=0.99490	A=0.00510
ExAC	Asian	Sub	25158	G=0.97671	A=0.02329
ExAC	American	Sub	11550	G=0.99749	A=0.00251
ExAC	African	Sub	10374	G=0.98969	A=0.01031
ExAC	Other	Sub	906	G=0.994	A=0.006
Allele Frequency Aggregator	Total	Global	69392	G=0.99385	A=0.00615
Allele Frequency Aggregator	European	Sub	51572	G=0.99484	A=0.00516
Allele Frequency Aggregator	Other	Sub	9848	G=0.9918	A=0.0082
Allele Frequency Aggregator	African	Sub	5576	G=0.9898	A=0.0102
Allele Frequency Aggregator	Latin American 1	Sub	876	G=0.987	A=0.013
Allele Frequency Aggregator	Latin American 2	Sub	860	G=0.994	A=0.006
Allele Frequency Aggregator	Asian	Sub	498	G=0.996	A=0.004
Allele Frequency Aggregator	South Asian	Sub	162	G=0.969	A=0.031
14KJPN	JAPANESE	Study-wide	28258	G=0.99940	A=0.00060
8.3KJPN	JAPANESE	Study-wide	16758	G=0.99916	A=0.00084
GO Exome Sequencing Project	Global	Study-wide	13006	G=0.99493	A=0.00507
GO Exome Sequencing Project	European American	Sub	8600	G=0.9971	A=0.0029
GO Exome Sequencing Project	African American	Sub	4406	G=0.9907	A=0.0093
1000Genomes_30x	Global	Study-wide	6404	G=0.9883	A=0.0117
1000Genomes_30x	African	Sub	1786	G=0.9871	A=0.0129
1000Genomes_30x	Europe	Sub	1266	G=0.9953	A=0.0047
1000Genomes_30x	South Asian	Sub	1202	G=0.9684	A=0.0316
1000Genomes_30x	East Asian	Sub	1170	G=0.9983	A=0.0017
1000Genomes_30x	American	Sub	980	G=0.994	A=0.006
1000Genomes	Global	Study-wide	5008	G=0.9890	A=0.0110
1000Genomes	African	Sub	1322	G=0.9871	A=0.0129
1000Genomes	East Asian	Sub	1008	G=0.9980	A=0.0020
1000Genomes	Europe	Sub	1006	G=0.9960	A=0.0040
1000Genomes	South Asian	Sub	978	G=0.970	A=0.030
1000Genomes	American	Sub	694	G=0.996	A=0.004
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.9996	A=0.0004
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.9964	A=0.0036
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.9930	A=0.0070
KOREAN population from KRGDB	KOREAN	Study-wide	2922	G=0.9986	A=0.0014
Korean Genome Project	KOREAN	Study-wide	1832	G=0.9989	A=0.0011
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	G=0.9842	A=0.0158
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	G=0.984	A=0.016
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	G=0.993	A=0.007
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	G=0.967	A=0.033
Genome-wide autozygosity in Daghestan	Europe	Sub	108	G=0.991	A=0.009
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	G=1.00	A=0.00
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	G=0.94	A=0.06
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.999	A=0.001
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.991	A=0.009
Qatari	Global	Study-wide	216	G=0.986	A=0.014
SGDP_PRJ	Global	Study-wide	16	G=0.50	A=0.50

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.107783328G>A
GRCh37.p13 chr 7	NC_000007.13:g.107423773G>A
SLC26A3 RefSeqGene (LRG_683)	NG_008046.1:g.24906C>T

Gene: SLC26A3, solute carrier family 26 member 3 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SLC26A3 transcript	NM_000111.3:c.996C>T	D [GAC] > D [GAT]	Coding Sequence Variant
chloride anion exchanger	NP_000102.1:p.Asp332=	D (Asp) > D (Asp)	Synonymous 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: 309335 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000274999.3	Congenital secretory diarrhea, chloride type	Benign
RCV000963219.8	not provided	Benign-Likely-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 7	NC_000007.14:g.107783328=	NC_000007.14:g.107783328G>A
GRCh37.p13 chr 7	NC_000007.13:g.107423773=	NC_000007.13:g.107423773G>A
SLC26A3 RefSeqGene (LRG_683)	NG_008046.1:g.24906=	NG_008046.1:g.24906C>T
SLC26A3 transcript	NM_000111.3:c.996=	NM_000111.3:c.996C>T
SLC26A3 transcript	NM_000111.2:c.996=	NM_000111.2:c.996C>T
chloride anion exchanger	NP_000102.1:p.Asp332=	NP_000102.1:p.Asp332=

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#.

57 SubSNP, 20 Frequency, 2 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	APPLERA_GI	ss48430680	Mar 15, 2006 (126)
2	SEATTLESEQ	ss159715480	Dec 01, 2009 (131)
3	ILLUMINA	ss160627787	Dec 01, 2009 (131)
4	1000GENOMES	ss334348714	May 09, 2011 (134)
5	NHLBI-ESP	ss342244309	May 09, 2011 (134)
6	ILLUMINA	ss481725883	Sep 08, 2015 (146)
7	1000GENOMES	ss490952123	May 04, 2012 (137)
8	CLINSEQ_SNP	ss491912991	May 04, 2012 (137)
9	ILLUMINA	ss534863389	Sep 08, 2015 (146)
10	TISHKOFF	ss560217211	Apr 25, 2013 (138)
11	SSMP	ss654622614	Apr 25, 2013 (138)
12	EVA-GONL	ss984646666	Aug 21, 2014 (142)
13	JMKIDD_LAB	ss1067491244	Aug 21, 2014 (142)
14	JMKIDD_LAB	ss1074869963	Aug 21, 2014 (142)
15	1000GENOMES	ss1326562117	Aug 21, 2014 (142)
16	HAMMER_LAB	ss1397502810	Sep 08, 2015 (146)
17	DDI	ss1431238809	Apr 01, 2015 (144)
18	EVA_DECODE	ss1594227104	Apr 01, 2015 (144)
19	EVA_UK10K_ALSPAC	ss1618910820	Apr 01, 2015 (144)
20	EVA_UK10K_TWINSUK	ss1661904853	Apr 01, 2015 (144)
21	EVA_EXAC	ss1688901691	Apr 01, 2015 (144)
22	EVA_MGP	ss1711176794	Apr 01, 2015 (144)
23	WEILL_CORNELL_DGM	ss1927909831	Feb 12, 2016 (147)
24	HUMAN_LONGEVITY	ss2296638571	Dec 20, 2016 (150)
25	GNOMAD	ss2736695252	Nov 08, 2017 (151)
26	GNOMAD	ss2747903055	Nov 08, 2017 (151)
27	GNOMAD	ss2857440415	Nov 08, 2017 (151)
28	SWEGEN	ss3001806817	Nov 08, 2017 (151)
29	ILLUMINA	ss3629885578	Oct 12, 2018 (152)
30	ILLUMINA	ss3636870343	Oct 12, 2018 (152)
31	OMUKHERJEE_ADBS	ss3646362395	Oct 12, 2018 (152)
32	EGCUT_WGS	ss3669550302	Jul 13, 2019 (153)
33	EVA_DECODE	ss3720414654	Jul 13, 2019 (153)
34	EVA	ss3766991812	Jul 13, 2019 (153)
35	KHV_HUMAN_GENOMES	ss3810163213	Jul 13, 2019 (153)
36	EVA	ss3824308518	Apr 26, 2020 (154)
37	EVA	ss3825726801	Apr 26, 2020 (154)
38	SGDP_PRJ	ss3868104615	Apr 26, 2020 (154)
39	KRGDB	ss3915420277	Apr 26, 2020 (154)
40	KOGIC	ss3962315475	Apr 26, 2020 (154)
41	FSA-LAB	ss3984377678	Apr 26, 2021 (155)
42	EVA	ss3986395831	Apr 26, 2021 (155)
43	TOPMED	ss4758531689	Apr 26, 2021 (155)
44	TOMMO_GENOMICS	ss5184942471	Apr 26, 2021 (155)
45	EVA	ss5237197871	Apr 26, 2021 (155)
46	EVA	ss5237649881	Oct 13, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5274239209	Oct 13, 2022 (156)
48	TRAN_CS_UWATERLOO	ss5314421010	Oct 13, 2022 (156)
49	HUGCELL_USP	ss5471177196	Oct 13, 2022 (156)
50	1000G_HIGH_COVERAGE	ss5563118923	Oct 13, 2022 (156)
51	SANFORD_IMAGENETICS	ss5643701944	Oct 13, 2022 (156)
52	TOMMO_GENOMICS	ss5725748365	Oct 13, 2022 (156)
53	YY_MCH	ss5808977133	Oct 13, 2022 (156)
54	EVA	ss5823334539	Oct 13, 2022 (156)
55	EVA	ss5848690438	Oct 13, 2022 (156)
56	EVA	ss5860308255	Oct 13, 2022 (156)
57	EVA	ss5972885339	Oct 13, 2022 (156)
58	1000Genomes	NC_000007.13 - 107423773	Oct 12, 2018 (152)
59	1000Genomes_30x	NC_000007.14 - 107783328	Oct 13, 2022 (156)
60	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 107423773	Oct 12, 2018 (152)
61	Genome-wide autozygosity in Daghestan	NC_000007.12 - 107211009	Apr 26, 2020 (154)
62	Genetic variation in the Estonian population	NC_000007.13 - 107423773	Oct 12, 2018 (152)
63	ExAC	NC_000007.13 - 107423773	Oct 12, 2018 (152)
64	gnomAD - Genomes	NC_000007.14 - 107783328	Apr 26, 2021 (155)
65	gnomAD - Exomes	NC_000007.13 - 107423773	Jul 13, 2019 (153)
66	GO Exome Sequencing Project	NC_000007.13 - 107423773	Oct 12, 2018 (152)
67	Genome of the Netherlands Release 5	NC_000007.13 - 107423773	Apr 26, 2020 (154)
68	KOREAN population from KRGDB	NC_000007.13 - 107423773	Apr 26, 2020 (154)
69	Korean Genome Project	NC_000007.14 - 107783328	Apr 26, 2020 (154)
70	Medical Genome Project healthy controls from Spanish population	NC_000007.13 - 107423773	Apr 26, 2020 (154)
71	Qatari	NC_000007.13 - 107423773	Apr 26, 2020 (154)
72	SGDP_PRJ	NC_000007.13 - 107423773	Apr 26, 2020 (154)
73	8.3KJPN	NC_000007.13 - 107423773	Apr 26, 2021 (155)
74	14KJPN	NC_000007.14 - 107783328	Oct 13, 2022 (156)
75	TopMed	NC_000007.14 - 107783328	Apr 26, 2021 (155)
76	UK 10K study - Twins	NC_000007.13 - 107423773	Oct 12, 2018 (152)
77	ALFA	NC_000007.14 - 107783328	Apr 26, 2021 (155)
78	ClinVar	RCV000274999.3	Oct 13, 2022 (156)
79	ClinVar	RCV000963219.8	Oct 13, 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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
476888, ss491912991, ss1397502810, ss1594227104	NC_000007.12:107211008:G:A	NC_000007.14:107783327:G:A	(self)
38584237, 21464950, 15288550, 8980417, 5857708, 766453, 9580892, 22597671, 292554, 9951761, 20121595, 42911778, 21464950, ss334348714, ss342244309, ss481725883, ss490952123, ss534863389, ss560217211, ss654622614, ss984646666, ss1067491244, ss1074869963, ss1326562117, ss1431238809, ss1618910820, ss1661904853, ss1688901691, ss1711176794, ss1927909831, ss2736695252, ss2747903055, ss2857440415, ss3001806817, ss3629885578, ss3636870343, ss3646362395, ss3669550302, ss3766991812, ss3824308518, ss3825726801, ss3868104615, ss3915420277, ss3984377678, ss3986395831, ss5184942471, ss5643701944, ss5823334539, ss5848690438, ss5972885339	NC_000007.13:107423772:G:A	NC_000007.14:107783327:G:A	(self)
RCV000274999.3, RCV000963219.8, 50644858, 272339018, 18693476, 59585469, 595909248, 8042478979, ss2296638571, ss3720414654, ss3810163213, ss3962315475, ss4758531689, ss5237197871, ss5237649881, ss5274239209, ss5314421010, ss5471177196, ss5563118923, ss5725748365, ss5808977133, ss5860308255	NC_000007.14:107783327:G:A	NC_000007.14:107783327:G:A	(self)
ss48430680, ss159715480, ss160627787	NT_007933.15:45456615:G:A	NC_000007.14:107783327:G:A	(self)

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

No publications for rs35576676

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

rs35576676