Name: rs7151708
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.

rs7151708

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:23129551 (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>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.061158 (16188/264690, TOPMED)
T=0.055850 (7827/140144, GnomAD)
T=0.012037 (1529/127030, ALFA) (+ 13 more)
T=0.06798 (1921/28258, 14KJPN)
T=0.06838 (1146/16760, 8.3KJPN)
T=0.0759 (486/6404, 1000G_30x)
T=0.0731 (366/5008, 1000G)
T=0.0013 (5/3854, ALSPAC)
T=0.0008 (3/3708, TWINSUK)
T=0.0536 (157/2930, KOREAN)
T=0.0573 (105/1832, Korea1K)
T=0.1207 (161/1334, HapMap)
T=0.032 (7/216, Qatari)
T=0.103 (22/214, Vietnamese)
T=0.14 (10/74, Ancient Sardinia)
C=0.48 (27/56, SGDP_PRJ)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SLC7A8 : 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	127030	C=0.987963	T=0.012037
European	Sub	111214	C=0.998957	T=0.001043
African	Sub	6646	C=0.8270	T=0.1730
African Others	Sub	238	C=0.752	T=0.248
African American	Sub	6408	C=0.8297	T=0.1703
Asian	Sub	622	C=0.892	T=0.108
East Asian	Sub	490	C=0.898	T=0.102
Other Asian	Sub	132	C=0.871	T=0.129
Latin American 1	Sub	676	C=0.948	T=0.052
Latin American 2	Sub	2210	C=0.9873	T=0.0127
South Asian	Sub	184	C=1.000	T=0.000
Other	Sub	5478	C=0.9757	T=0.0243

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	C=0.938842	T=0.061158
gnomAD - Genomes	Global	Study-wide	140144	C=0.944150	T=0.055850
gnomAD - Genomes	European	Sub	75934	C=0.99867	T=0.00133
gnomAD - Genomes	African	Sub	41950	C=0.83044	T=0.16956
gnomAD - Genomes	American	Sub	13660	C=0.98228	T=0.01772
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=1.0000	T=0.0000
gnomAD - Genomes	East Asian	Sub	3132	C=0.9157	T=0.0843
gnomAD - Genomes	Other	Sub	2146	C=0.9501	T=0.0499
Allele Frequency Aggregator	Total	Global	127030	C=0.987963	T=0.012037
Allele Frequency Aggregator	European	Sub	111214	C=0.998957	T=0.001043
Allele Frequency Aggregator	African	Sub	6646	C=0.8270	T=0.1730
Allele Frequency Aggregator	Other	Sub	5478	C=0.9757	T=0.0243
Allele Frequency Aggregator	Latin American 2	Sub	2210	C=0.9873	T=0.0127
Allele Frequency Aggregator	Latin American 1	Sub	676	C=0.948	T=0.052
Allele Frequency Aggregator	Asian	Sub	622	C=0.892	T=0.108
Allele Frequency Aggregator	South Asian	Sub	184	C=1.000	T=0.000
14KJPN	JAPANESE	Study-wide	28258	C=0.93202	T=0.06798
8.3KJPN	JAPANESE	Study-wide	16760	C=0.93162	T=0.06838
1000Genomes_30x	Global	Study-wide	6404	C=0.9241	T=0.0759
1000Genomes_30x	African	Sub	1786	C=0.7973	T=0.2027
1000Genomes_30x	Europe	Sub	1266	C=1.0000	T=0.0000
1000Genomes_30x	South Asian	Sub	1202	C=1.0000	T=0.0000
1000Genomes_30x	East Asian	Sub	1170	C=0.9120	T=0.0880
1000Genomes_30x	American	Sub	980	C=0.979	T=0.021
1000Genomes	Global	Study-wide	5008	C=0.9269	T=0.0731
1000Genomes	African	Sub	1322	C=0.7988	T=0.2012
1000Genomes	East Asian	Sub	1008	C=0.9157	T=0.0843
1000Genomes	Europe	Sub	1006	C=1.0000	T=0.0000
1000Genomes	South Asian	Sub	978	C=1.000	T=0.000
1000Genomes	American	Sub	694	C=0.978	T=0.022
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9987	T=0.0013
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9992	T=0.0008
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.9464	T=0.0536
Korean Genome Project	KOREAN	Study-wide	1832	C=0.9427	T=0.0573
HapMap	Global	Study-wide	1334	C=0.8793	T=0.1207
HapMap	African	Sub	692	C=0.853	T=0.147
HapMap	American	Sub	388	C=0.912	T=0.088
HapMap	Asian	Sub	254	C=0.902	T=0.098
Qatari	Global	Study-wide	216	C=0.968	T=0.032
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.897	T=0.103
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	74	C=0.86	T=0.14
SGDP_PRJ	Global	Study-wide	56	C=0.48	T=0.52

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 14	NC_000014.9:g.23129551C>T
GRCh37.p13 chr 14	NC_000014.8:g.23598760C>T

Gene: SLC7A8, solute carrier family 7 member 8 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SLC7A8 transcript variant 3	NM_001267036.1:c.948+99G>A	N/A	Intron Variant
SLC7A8 transcript variant 4	NM_001267037.2:c.591+99G>A	N/A	Intron Variant
SLC7A8 transcript variant 1	NM_012244.4:c.1263+99G>A	N/A	Intron Variant
SLC7A8 transcript variant 2	NM_182728.3:c.654+99G>A	N/A	Intron Variant
SLC7A8 transcript variant 5	NR_049767.2:n.	N/A	Intron 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	C=	T
GRCh38.p14 chr 14	NC_000014.9:g.23129551=	NC_000014.9:g.23129551C>T
GRCh37.p13 chr 14	NC_000014.8:g.23598760=	NC_000014.8:g.23598760C>T
SLC7A8 transcript variant 3	NM_001267036.1:c.948+99=	NM_001267036.1:c.948+99G>A
SLC7A8 transcript variant 4	NM_001267037.1:c.591+99=	NM_001267037.1:c.591+99G>A
SLC7A8 transcript variant 4	NM_001267037.2:c.591+99=	NM_001267037.2:c.591+99G>A
SLC7A8 transcript variant 1	NM_012244.3:c.1263+99=	NM_012244.3:c.1263+99G>A
SLC7A8 transcript variant 1	NM_012244.4:c.1263+99=	NM_012244.4:c.1263+99G>A
SLC7A8 transcript variant 2	NM_182728.2:c.654+99=	NM_182728.2:c.654+99G>A
SLC7A8 transcript variant 2	NM_182728.3:c.654+99=	NM_182728.3:c.654+99G>A

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#.

73 SubSNP, 16 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss10743295	Jul 11, 2003 (116)
2	PERLEGEN	ss23798758	Sep 20, 2004 (123)
3	ILLUMINA	ss65753217	Oct 16, 2006 (127)
4	ILLUMINA	ss74985946	Dec 07, 2007 (129)
5	HGSV	ss81326118	Dec 15, 2007 (130)
6	ILLUMINA-UK	ss118377938	Feb 14, 2009 (130)
7	KRIBB_YJKIM	ss119543567	Dec 01, 2009 (131)
8	GMI	ss155517870	Dec 01, 2009 (131)
9	ILLUMINA	ss160853214	Dec 01, 2009 (131)
10	ILLUMINA	ss174263802	Jul 04, 2010 (132)
11	BUSHMAN	ss199817726	Jul 04, 2010 (132)
12	1000GENOMES	ss226460552	Jul 14, 2010 (132)
13	1000GENOMES	ss242912485	Jul 15, 2010 (132)
14	GMI	ss281921922	May 04, 2012 (137)
15	ILLUMINA	ss481483389	May 04, 2012 (137)
16	ILLUMINA	ss481511672	May 04, 2012 (137)
17	ILLUMINA	ss482489095	Sep 08, 2015 (146)
18	ILLUMINA	ss485536923	May 04, 2012 (137)
19	ILLUMINA	ss537441853	Sep 08, 2015 (146)
20	TISHKOFF	ss563968724	Apr 25, 2013 (138)
21	SSMP	ss659628795	Apr 25, 2013 (138)
22	ILLUMINA	ss778965830	Sep 08, 2015 (146)
23	ILLUMINA	ss783213971	Sep 08, 2015 (146)
24	ILLUMINA	ss784168613	Sep 08, 2015 (146)
25	ILLUMINA	ss832474129	Sep 08, 2015 (146)
26	ILLUMINA	ss834427822	Sep 08, 2015 (146)
27	JMKIDD_LAB	ss1079488863	Aug 21, 2014 (142)
28	1000GENOMES	ss1350181707	Aug 21, 2014 (142)
29	EVA_UK10K_ALSPAC	ss1631304831	Apr 01, 2015 (144)
30	EVA_UK10K_TWINSUK	ss1674298864	Apr 01, 2015 (144)
31	EVA_DECODE	ss1694915811	Apr 01, 2015 (144)
32	EVA_SVP	ss1713429559	Apr 01, 2015 (144)
33	ILLUMINA	ss1752125268	Sep 08, 2015 (146)
34	HAMMER_LAB	ss1807830035	Sep 08, 2015 (146)
35	WEILL_CORNELL_DGM	ss1934301857	Feb 12, 2016 (147)
36	HUMAN_LONGEVITY	ss2200291177	Dec 20, 2016 (150)
37	ILLUMINA	ss2633125732	Nov 08, 2017 (151)
38	GRF	ss2700710947	Nov 08, 2017 (151)
39	GNOMAD	ss2925346933	Nov 08, 2017 (151)
40	ILLUMINA	ss3627174341	Oct 12, 2018 (152)
41	ILLUMINA	ss3631125458	Oct 12, 2018 (152)
42	ILLUMINA	ss3633069183	Oct 12, 2018 (152)
43	ILLUMINA	ss3633772298	Oct 12, 2018 (152)
44	ILLUMINA	ss3634567593	Oct 12, 2018 (152)
45	ILLUMINA	ss3635461939	Oct 12, 2018 (152)
46	ILLUMINA	ss3636256800	Oct 12, 2018 (152)
47	ILLUMINA	ss3637213082	Oct 12, 2018 (152)
48	ILLUMINA	ss3638038956	Oct 12, 2018 (152)
49	ILLUMINA	ss3640274921	Oct 12, 2018 (152)
50	ILLUMINA	ss3643026596	Oct 12, 2018 (152)
51	EVA_DECODE	ss3696273364	Jul 13, 2019 (153)
52	ILLUMINA	ss3744868199	Jul 13, 2019 (153)
53	EVA	ss3752073537	Jul 13, 2019 (153)
54	ILLUMINA	ss3772367179	Jul 13, 2019 (153)
55	KHV_HUMAN_GENOMES	ss3817405325	Jul 13, 2019 (153)
56	SGDP_PRJ	ss3881069574	Apr 27, 2020 (154)
57	KRGDB	ss3930037553	Apr 27, 2020 (154)
58	KOGIC	ss3974527688	Apr 27, 2020 (154)
59	EVA	ss3985668249	Apr 26, 2021 (155)
60	EVA	ss4017659540	Apr 26, 2021 (155)
61	TOPMED	ss4963491102	Apr 26, 2021 (155)
62	TOMMO_GENOMICS	ss5212304831	Apr 26, 2021 (155)
63	1000G_HIGH_COVERAGE	ss5295498450	Oct 16, 2022 (156)
64	EVA	ss5315722002	Oct 16, 2022 (156)
65	EVA	ss5413965540	Oct 16, 2022 (156)
66	HUGCELL_USP	ss5489629628	Oct 16, 2022 (156)
67	1000G_HIGH_COVERAGE	ss5595396414	Oct 16, 2022 (156)
68	SANFORD_IMAGENETICS	ss5655801586	Oct 16, 2022 (156)
69	TOMMO_GENOMICS	ss5764841443	Oct 16, 2022 (156)
70	YY_MCH	ss5814572081	Oct 16, 2022 (156)
71	EVA	ss5840820352	Oct 16, 2022 (156)
72	EVA	ss5900519613	Oct 16, 2022 (156)
73	EVA	ss5947219890	Oct 16, 2022 (156)
74	1000Genomes	NC_000014.8 - 23598760	Oct 12, 2018 (152)
75	1000Genomes_30x	NC_000014.9 - 23129551	Oct 16, 2022 (156)
76	The Avon Longitudinal Study of Parents and Children	NC_000014.8 - 23598760	Oct 12, 2018 (152)
77	gnomAD - Genomes	NC_000014.9 - 23129551	Apr 26, 2021 (155)
78	HapMap	NC_000014.9 - 23129551	Apr 27, 2020 (154)
79	KOREAN population from KRGDB	NC_000014.8 - 23598760	Apr 27, 2020 (154)
80	Korean Genome Project	NC_000014.9 - 23129551	Apr 27, 2020 (154)
81	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000014.8 - 23598760	Apr 26, 2021 (155)
82	Qatari	NC_000014.8 - 23598760	Apr 27, 2020 (154)
83	SGDP_PRJ	NC_000014.8 - 23598760	Apr 27, 2020 (154)
84	8.3KJPN	NC_000014.8 - 23598760	Apr 26, 2021 (155)
85	14KJPN	NC_000014.9 - 23129551	Oct 16, 2022 (156)
86	TopMed	NC_000014.9 - 23129551	Apr 26, 2021 (155)
87	UK 10K study - Twins	NC_000014.8 - 23598760	Oct 12, 2018 (152)
88	A Vietnamese Genetic Variation Database	NC_000014.8 - 23598760	Jul 13, 2019 (153)
89	ALFA	NC_000014.9 - 23129551	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).

Associated ID	History Updated (Build)
rs59281446	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss81326118, ss118377938, ss199817726, ss281921922, ss481483389, ss1694915811, ss1713429559, ss3643026596	NC_000014.7:22668599:C:T	NC_000014.9:23129550:C:T	(self)
63130334, 35069470, 37214947, 894176, 16343787, 33086554, 70274138, 35069470, 7800672, ss226460552, ss242912485, ss481511672, ss482489095, ss485536923, ss537441853, ss563968724, ss659628795, ss778965830, ss783213971, ss784168613, ss832474129, ss834427822, ss1079488863, ss1350181707, ss1631304831, ss1674298864, ss1752125268, ss1807830035, ss1934301857, ss2633125732, ss2700710947, ss2925346933, ss3627174341, ss3631125458, ss3633069183, ss3633772298, ss3634567593, ss3635461939, ss3636256800, ss3637213082, ss3638038956, ss3640274921, ss3744868199, ss3752073537, ss3772367179, ss3881069574, ss3930037553, ss3985668249, ss4017659540, ss5212304831, ss5315722002, ss5413965540, ss5655801586, ss5840820352, ss5947219890	NC_000014.8:23598759:C:T	NC_000014.9:23129550:C:T	(self)
82922349, 445187947, 1103570, 30905689, 98678547, 179036761, 1856581182, ss2200291177, ss3696273364, ss3817405325, ss3974527688, ss4963491102, ss5295498450, ss5489629628, ss5595396414, ss5764841443, ss5814572081, ss5900519613	NC_000014.9:23129550:C:T	NC_000014.9:23129550:C:T	(self)
ss10743295	NT_026437.10:3518887:C:T	NC_000014.9:23129550:C:T	(self)
ss23798758, ss65753217, ss74985946, ss119543567, ss155517870, ss160853214, ss174263802	NT_026437.12:4598759:C:T	NC_000014.9:23129550:C:T	(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 rs7151708

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

rs7151708