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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.

rs193191549

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:169625842 (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
C>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000364 (51/140172, GnomAD)
A=0.00000 (0/14048, ALFA)
T=0.00000 (0/14048, ALFA) (+ 4 more)
A=0.0011 (7/6404, 1000G_30x)
A=0.0008 (4/5008, 1000G)
C=0.5 (1/2, SGDP_PRJ)
A=0.5 (1/2, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CLCN3 : Intron 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 14048 C=1.00000 A=0.00000, T=0.00000
European Sub 9690 C=1.0000 A=0.0000, T=0.0000
African Sub 2898 C=1.0000 A=0.0000, T=0.0000
African Others Sub 114 C=1.000 A=0.000, T=0.000
African American Sub 2784 C=1.0000 A=0.0000, T=0.0000
Asian Sub 112 C=1.000 A=0.000, T=0.000
East Asian Sub 86 C=1.00 A=0.00, T=0.00
Other Asian Sub 26 C=1.00 A=0.00, T=0.00
Latin American 1 Sub 146 C=1.000 A=0.000, T=0.000
Latin American 2 Sub 608 C=1.000 A=0.000, T=0.000
South Asian Sub 98 C=1.00 A=0.00, T=0.00
Other Sub 496 C=1.000 A=0.000, T=0.000


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
gnomAD - Genomes Global Study-wide 140172 C=0.999636 A=0.000364
gnomAD - Genomes European Sub 75924 C=0.99999 A=0.00001
gnomAD - Genomes African Sub 41992 C=0.99893 A=0.00107
gnomAD - Genomes American Sub 13652 C=0.99971 A=0.00029
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3132 C=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2150 C=0.9995 A=0.0005
Allele Frequency Aggregator Total Global 14048 C=1.00000 A=0.00000, T=0.00000
Allele Frequency Aggregator European Sub 9690 C=1.0000 A=0.0000, T=0.0000
Allele Frequency Aggregator African Sub 2898 C=1.0000 A=0.0000, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 608 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 A=0.00, T=0.00
1000Genomes_30x Global Study-wide 6404 C=0.9989 A=0.0011
1000Genomes_30x African Sub 1786 C=0.9972 A=0.0028
1000Genomes_30x Europe Sub 1266 C=1.0000 A=0.0000
1000Genomes_30x South Asian Sub 1202 C=1.0000 A=0.0000
1000Genomes_30x East Asian Sub 1170 C=1.0000 A=0.0000
1000Genomes_30x American Sub 980 C=0.998 A=0.002
1000Genomes Global Study-wide 5008 C=0.9992 A=0.0008
1000Genomes African Sub 1322 C=0.9977 A=0.0023
1000Genomes East Asian Sub 1008 C=1.0000 A=0.0000
1000Genomes Europe Sub 1006 C=1.0000 A=0.0000
1000Genomes South Asian Sub 978 C=1.000 A=0.000
1000Genomes American Sub 694 C=0.999 A=0.001
SGDP_PRJ Global Study-wide 2 C=0.5 A=0.5
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.p14 chr 4 NC_000004.12:g.169625842C>A
GRCh38.p14 chr 4 NC_000004.12:g.169625842C>T
GRCh37.p13 chr 4 NC_000004.11:g.170546993C>A
GRCh37.p13 chr 4 NC_000004.11:g.170546993C>T
CLCN3 RefSeqGene NG_029731.1:g.10322C>A
CLCN3 RefSeqGene NG_029731.1:g.10322C>T
Gene: CLCN3, chloride voltage-gated channel 3 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CLCN3 transcript variant a NM_001243372.2:c.-17+4779…

NM_001243372.2:c.-17+4779C>A

N/A Intron Variant
CLCN3 transcript variant b NM_001829.4:c.-17+4779C>A N/A Intron Variant
CLCN3 transcript variant e NM_173872.4:c.-17+4779C>A N/A Intron Variant
CLCN3 transcript variant c NM_001243374.2:c. N/A Genic Upstream Transcript Variant
CLCN3 transcript variant X1 XM_005262726.4:c. N/A Genic Upstream Transcript Variant
CLCN3 transcript variant X2 XM_011531586.3:c. N/A Genic Upstream Transcript Variant
CLCN3 transcript variant X3 XM_047449584.1:c. N/A Genic Upstream Transcript Variant
CLCN3 transcript variant X4 XM_047449585.1:c. N/A Genic Upstream Transcript Variant
CLCN3 transcript variant X5 XM_047449586.1:c. N/A Genic Upstream Transcript 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.

Not Reported in ClinVar
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 C= A T
GRCh38.p14 chr 4 NC_000004.12:g.169625842= NC_000004.12:g.169625842C>A NC_000004.12:g.169625842C>T
GRCh37.p13 chr 4 NC_000004.11:g.170546993= NC_000004.11:g.170546993C>A NC_000004.11:g.170546993C>T
CLCN3 RefSeqGene NG_029731.1:g.10322= NG_029731.1:g.10322C>A NG_029731.1:g.10322C>T
CLCN3 transcript variant a NM_001243372.1:c.-17+4779= NM_001243372.1:c.-17+4779C>A NM_001243372.1:c.-17+4779C>T
CLCN3 transcript variant a NM_001243372.2:c.-17+4779= NM_001243372.2:c.-17+4779C>A NM_001243372.2:c.-17+4779C>T
CLCN3 transcript variant b NM_001829.3:c.-17+4779= NM_001829.3:c.-17+4779C>A NM_001829.3:c.-17+4779C>T
CLCN3 transcript variant b NM_001829.4:c.-17+4779= NM_001829.4:c.-17+4779C>A NM_001829.4:c.-17+4779C>T
CLCN3 transcript variant e NM_173872.3:c.-17+4779= NM_173872.3:c.-17+4779C>A NM_173872.3:c.-17+4779C>T
CLCN3 transcript variant e NM_173872.4:c.-17+4779= NM_173872.4:c.-17+4779C>A NM_173872.4:c.-17+4779C>T
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#.

12 SubSNP, 7 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss457654512 Sep 17, 2011 (135)
2 1000GENOMES ss1312933215 Aug 21, 2014 (142)
3 HUMAN_LONGEVITY ss2269446512 Dec 20, 2016 (150)
4 GNOMAD ss2818457827 Nov 08, 2017 (151)
5 SGDP_PRJ ss3860647519 Apr 26, 2020 (154)
6 TOPMED ss4641735406 Apr 26, 2021 (155)
7 TOPMED ss4641735407 Apr 26, 2021 (155)
8 1000G_HIGH_COVERAGE ss5262005264 Oct 17, 2022 (156)
9 EVA ss5354082082 Oct 17, 2022 (156)
10 1000G_HIGH_COVERAGE ss5544626421 Oct 17, 2022 (156)
11 EVA ss5866620945 Oct 17, 2022 (156)
12 EVA ss5965079457 Oct 17, 2022 (156)
13 1000Genomes NC_000004.11 - 170546993 Oct 12, 2018 (152)
14 1000Genomes_30x NC_000004.12 - 169625842 Oct 17, 2022 (156)
15 gnomAD - Genomes NC_000004.12 - 169625842 Apr 26, 2021 (155)
16 SGDP_PRJ NC_000004.11 - 170546993 Apr 26, 2020 (154)
17 TopMed

Submission ignored due to conflicting rows:
Row 479112962 (NC_000004.12:169625841:C:A 106/264690)
Row 479112963 (NC_000004.12:169625841:C:T 1/264690)

- Apr 26, 2021 (155)
18 TopMed

Submission ignored due to conflicting rows:
Row 479112962 (NC_000004.12:169625841:C:A 106/264690)
Row 479112963 (NC_000004.12:169625841:C:T 1/264690)

- Apr 26, 2021 (155)
19 ALFA NC_000004.12 - 169625842 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
24451627, 12664499, ss457654512, ss1312933215, ss2818457827, ss3860647519, ss5354082082, ss5965079457 NC_000004.11:170546992:C:A NC_000004.12:169625841:C:A (self)
32152356, 173144430, 6349489482, ss2269446512, ss4641735406, ss5262005264, ss5544626421, ss5866620945 NC_000004.12:169625841:C:A NC_000004.12:169625841:C:A (self)
6349489482, ss4641735407 NC_000004.12:169625841:C:T NC_000004.12:169625841:C:T (self)
Help

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

No publications for rs193191549

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.post761+d5e8e07