Name: rs111330736
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.

rs111330736

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:146408146 (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=0.007700 (2038/264690, TOPMED)
A=0.007319 (1026/140188, GnomAD)
A=0.00561 (106/18890, ALFA) (+ 9 more)
A=0.0064 (41/6404, 1000G_30x)
A=0.0058 (29/5008, 1000G)
A=0.0029 (13/4480, Estonian)
A=0.0021 (8/3854, ALSPAC)
A=0.0016 (6/3708, TWINSUK)
A=0.002 (2/998, GoNL)
A=0.019 (4/216, Qatari)
G=0.5 (4/8, SGDP_PRJ)
A=0.5 (4/8, SGDP_PRJ)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SLC10A7 : Intron Variant
MIR7849 : 2KB Upstream 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	18890	G=0.99439	A=0.00561
European	Sub	14286	G=0.99685	A=0.00315
African	Sub	2946	G=0.9820	A=0.0180
African Others	Sub	114	G=0.974	A=0.026
African American	Sub	2832	G=0.9823	A=0.0177
Asian	Sub	112	G=1.000	A=0.000
East Asian	Sub	86	G=1.00	A=0.00
Other Asian	Sub	26	G=1.00	A=0.00
Latin American 1	Sub	146	G=1.000	A=0.000
Latin American 2	Sub	610	G=0.998	A=0.002
South Asian	Sub	98	G=1.00	A=0.00
Other	Sub	692	G=0.990	A=0.010

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=0.992300	A=0.007700
gnomAD - Genomes	Global	Study-wide	140188	G=0.992681	A=0.007319
gnomAD - Genomes	European	Sub	75924	G=0.99780	A=0.00220
gnomAD - Genomes	African	Sub	42022	G=0.98491	A=0.01509
gnomAD - Genomes	American	Sub	13642	G=0.99472	A=0.00528
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	G=0.9611	A=0.0389
gnomAD - Genomes	East Asian	Sub	3130	G=1.0000	A=0.0000
gnomAD - Genomes	Other	Sub	2150	G=0.9888	A=0.0112
Allele Frequency Aggregator	Total	Global	18890	G=0.99439	A=0.00561
Allele Frequency Aggregator	European	Sub	14286	G=0.99685	A=0.00315
Allele Frequency Aggregator	African	Sub	2946	G=0.9820	A=0.0180
Allele Frequency Aggregator	Other	Sub	692	G=0.990	A=0.010
Allele Frequency Aggregator	Latin American 2	Sub	610	G=0.998	A=0.002
Allele Frequency Aggregator	Latin American 1	Sub	146	G=1.000	A=0.000
Allele Frequency Aggregator	Asian	Sub	112	G=1.000	A=0.000
Allele Frequency Aggregator	South Asian	Sub	98	G=1.00	A=0.00
1000Genomes_30x	Global	Study-wide	6404	G=0.9936	A=0.0064
1000Genomes_30x	African	Sub	1786	G=0.9832	A=0.0168
1000Genomes_30x	Europe	Sub	1266	G=0.9953	A=0.0047
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=0.995	A=0.005
1000Genomes	Global	Study-wide	5008	G=0.9942	A=0.0058
1000Genomes	African	Sub	1322	G=0.9841	A=0.0159
1000Genomes	East Asian	Sub	1008	G=1.0000	A=0.0000
1000Genomes	Europe	Sub	1006	G=0.9960	A=0.0040
1000Genomes	South Asian	Sub	978	G=1.000	A=0.000
1000Genomes	American	Sub	694	G=0.994	A=0.006
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.9971	A=0.0029
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.9979	A=0.0021
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.9984	A=0.0016
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.998	A=0.002
Qatari	Global	Study-wide	216	G=0.981	A=0.019
SGDP_PRJ	Global	Study-wide	8	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 4	NC_000004.12:g.146408146G>A
GRCh37.p13 chr 4	NC_000004.11:g.147329298G>A

Gene: SLC10A7, solute carrier family 10 member 7 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SLC10A7 transcript variant 2	NM_001029998.6:c.435+3463… NM_001029998.6:c.435+34637C>T	N/A	Intron Variant
SLC10A7 transcript variant 4	NM_001300842.3:c.435+3463… NM_001300842.3:c.435+34637C>T	N/A	Intron Variant
SLC10A7 transcript variant 5	NM_001317816.2:c.397-8215… NM_001317816.2:c.397-82150C>T	N/A	Intron Variant
SLC10A7 transcript variant 6	NM_001317817.2:c.	N/A	Genic Downstream Transcript Variant
SLC10A7 transcript variant 7	NM_001317818.2:c.	N/A	Genic Downstream Transcript Variant
SLC10A7 transcript variant 3	NM_032128.5:c.	N/A	Genic Downstream Transcript Variant
SLC10A7 transcript variant 1	NR_133924.2:n.	N/A	Intron Variant
SLC10A7 transcript variant X2	XM_011532311.3:c.397-8215… XM_011532311.3:c.397-82150C>T	N/A	Intron Variant
SLC10A7 transcript variant X5	XM_011532313.3:c.96+34637… XM_011532313.3:c.96+34637C>T	N/A	Intron Variant
SLC10A7 transcript variant X11	XM_017008692.2:c.2-82150… XM_017008692.2:c.2-82150C>T	N/A	Intron Variant
SLC10A7 transcript variant X10	XM_047416249.1:c.40+3463… XM_047416249.1:c.40+34637C>T	N/A	Intron Variant
SLC10A7 transcript variant X8	XM_017008690.3:c.*3947=	N/A	3 Prime UTR Variant
SLC10A7 transcript variant X6	XM_047416248.1:c.	N/A	Genic Upstream Transcript Variant
SLC10A7 transcript variant X7	XM_017008689.2:c.	N/A	Genic Downstream Transcript Variant
SLC10A7 transcript variant X9	XM_017008691.3:c.	N/A	Genic Downstream Transcript Variant
SLC10A7 transcript variant X3	XR_001741332.3:n.	N/A	Intron Variant
SLC10A7 transcript variant X4	XR_007057973.1:n.	N/A	Intron Variant
SLC10A7 transcript variant X1	XR_938780.4:n.	N/A	Intron Variant

Gene: MIR7849, microRNA 7849 (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
MIR7849 transcript	NR_107003.1:n.	N/A	Upstream Transcript 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.

Not Reported in ClinVar

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 4	NC_000004.12:g.146408146=	NC_000004.12:g.146408146G>A
GRCh37.p13 chr 4	NC_000004.11:g.147329298=	NC_000004.11:g.147329298G>A
SLC10A7 transcript variant X8	XM_017008690.3:c.*3947=	XM_017008690.3:c.*3947C>T
SLC10A7 transcript variant 2	NM_001029998.3:c.435+34637=	NM_001029998.3:c.435+34637C>T
SLC10A7 transcript variant 2	NM_001029998.6:c.435+34637=	NM_001029998.6:c.435+34637C>T
SLC10A7 transcript variant 4	NM_001300842.3:c.435+34637=	NM_001300842.3:c.435+34637C>T
SLC10A7 transcript variant 5	NM_001317816.2:c.397-82150=	NM_001317816.2:c.397-82150C>T
SLC10A7 transcript variant X1	XM_005263276.1:c.435+34637=	XM_005263276.1:c.435+34637C>T
SLC10A7 transcript variant X2	XM_005263277.1:c.397-82150=	XM_005263277.1:c.397-82150C>T
SLC10A7 transcript variant X3	XM_005263278.1:c.397-82150=	XM_005263278.1:c.397-82150C>T
SLC10A7 transcript variant X2	XM_011532311.3:c.397-82150=	XM_011532311.3:c.397-82150C>T
SLC10A7 transcript variant X5	XM_011532313.3:c.96+34637=	XM_011532313.3:c.96+34637C>T
SLC10A7 transcript variant X11	XM_017008692.2:c.*2-82150=	XM_017008692.2:c.*2-82150C>T
SLC10A7 transcript variant X10	XM_047416249.1:c.*40+34637=	XM_047416249.1:c.*40+34637C>T

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#.

24 SubSNP, 11 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BUSHMAN	ss199313471	Jul 04, 2010 (132)
2	1000GENOMES	ss332027531	May 09, 2011 (134)
3	EVA-GONL	ss980802300	Aug 21, 2014 (142)
4	1000GENOMES	ss1312282212	Aug 21, 2014 (142)
5	DDI	ss1430089358	Apr 01, 2015 (144)
6	EVA_UK10K_ALSPAC	ss1611414905	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1654408938	Apr 01, 2015 (144)
8	HAMMER_LAB	ss1802358050	Sep 08, 2015 (146)
9	WEILL_CORNELL_DGM	ss1924044169	Feb 12, 2016 (147)
10	HUMAN_LONGEVITY	ss2268088727	Dec 20, 2016 (150)
11	GNOMAD	ss2816602393	Nov 08, 2017 (151)
12	SWEGEN	ss2995745260	Nov 08, 2017 (151)
13	EGCUT_WGS	ss3663650281	Jul 13, 2019 (153)
14	EVA_DECODE	ss3713286063	Jul 13, 2019 (153)
15	SGDP_PRJ	ss3860303268	Apr 26, 2020 (154)
16	TOPMED	ss4636084023	Apr 26, 2021 (155)
17	1000G_HIGH_COVERAGE	ss5261431185	Oct 17, 2022 (156)
18	EVA	ss5353040998	Oct 17, 2022 (156)
19	HUGCELL_USP	ss5459941615	Oct 17, 2022 (156)
20	1000G_HIGH_COVERAGE	ss5543743849	Oct 17, 2022 (156)
21	SANFORD_IMAGENETICS	ss5636335350	Oct 17, 2022 (156)
22	EVA	ss5844873942	Oct 17, 2022 (156)
23	EVA	ss5865967597	Oct 17, 2022 (156)
24	EVA	ss5964738053	Oct 17, 2022 (156)
25	1000Genomes	NC_000004.11 - 147329298	Oct 12, 2018 (152)
26	1000Genomes_30x	NC_000004.12 - 146408146	Oct 17, 2022 (156)
27	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 147329298	Oct 12, 2018 (152)
28	Genetic variation in the Estonian population	NC_000004.11 - 147329298	Oct 12, 2018 (152)
29	gnomAD - Genomes	NC_000004.12 - 146408146	Apr 26, 2021 (155)
30	Genome of the Netherlands Release 5	NC_000004.11 - 147329298	Apr 26, 2020 (154)
31	Qatari	NC_000004.11 - 147329298	Apr 26, 2020 (154)
32	SGDP_PRJ	NC_000004.11 - 147329298	Apr 26, 2020 (154)
33	TopMed	NC_000004.12 - 146408146	Apr 26, 2021 (155)
34	UK 10K study - Twins	NC_000004.11 - 147329298	Oct 12, 2018 (152)
35	ALFA	NC_000004.12 - 146408146	Apr 26, 2021 (155)

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
ss199313471	NC_000004.10:147548747:G:A	NC_000004.12:146408145:G:A	(self)
23775039, 13218524, 9388529, 5856984, 6086099, 12320248, 13218524, ss332027531, ss980802300, ss1312282212, ss1430089358, ss1611414905, ss1654408938, ss1802358050, ss1924044169, ss2816602393, ss2995745260, ss3663650281, ss3860303268, ss5353040998, ss5636335350, ss5844873942, ss5964738053	NC_000004.11:147329297:G:A	NC_000004.12:146408145:G:A	(self)
31269784, 168394767, 473461579, 8830424362, ss2268088727, ss3713286063, ss4636084023, ss5261431185, ss5459941615, ss5543743849, ss5865967597	NC_000004.12:146408145:G:A	NC_000004.12:146408145: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 rs111330736

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

rs111330736