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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs7715094

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:135609392 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.487363 (129000/264690, TOPMED)
G=0.498721 (69823/140004, GnomAD)
G=0.38902 (10993/28258, 14KJPN) (+ 20 more)
G=0.42265 (8748/20698, ALFA)
G=0.38610 (6471/16760, 8.3KJPN)
G=0.4927 (3155/6404, 1000G_30x)
G=0.4960 (2484/5008, 1000G)
A=0.4799 (2150/4480, Estonian)
G=0.4427 (1706/3854, ALSPAC)
G=0.4280 (1587/3708, TWINSUK)
G=0.3792 (1111/2930, KOREAN)
G=0.3766 (690/1832, Korea1K)
A=0.4469 (799/1788, HapMap)
G=0.4409 (500/1134, Daghestan)
G=0.477 (476/998, GoNL)
G=0.296 (185/626, Chileans)
G=0.445 (267/600, NorthernSweden)
A=0.338 (133/394, SGDP_PRJ)
A=0.481 (104/216, Qatari)
G=0.458 (99/216, Vietnamese)
G=0.42 (17/40, GENOME_DK)
A=0.39 (15/38, Siberian)
G=0.44 (8/18, Ancient Sardinia)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SLC25A48 : 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 20698 A=0.57735 G=0.42265
European Sub 12608 A=0.59724 G=0.40276
African Sub 4266 A=0.4175 G=0.5825
African Others Sub 136 A=0.353 G=0.647
African American Sub 4130 A=0.4196 G=0.5804
Asian Sub 80 A=0.68 G=0.33
East Asian Sub 44 A=0.82 G=0.18
Other Asian Sub 36 A=0.50 G=0.50
Latin American 1 Sub 192 A=0.672 G=0.328
Latin American 2 Sub 2450 A=0.7139 G=0.2861
South Asian Sub 42 A=0.81 G=0.19
Other Sub 1060 A=0.6349 G=0.3651


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
TopMed Global Study-wide 264690 A=0.512637 G=0.487363
gnomAD - Genomes Global Study-wide 140004 A=0.501279 G=0.498721
gnomAD - Genomes European Sub 75858 A=0.53656 G=0.46344
gnomAD - Genomes African Sub 41908 A=0.38737 G=0.61263
gnomAD - Genomes American Sub 13640 A=0.63622 G=0.36378
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.4835 G=0.5165
gnomAD - Genomes East Asian Sub 3124 A=0.5784 G=0.4216
gnomAD - Genomes Other Sub 2150 A=0.5363 G=0.4637
14KJPN JAPANESE Study-wide 28258 A=0.61098 G=0.38902
Allele Frequency Aggregator Total Global 20698 A=0.57735 G=0.42265
Allele Frequency Aggregator European Sub 12608 A=0.59724 G=0.40276
Allele Frequency Aggregator African Sub 4266 A=0.4175 G=0.5825
Allele Frequency Aggregator Latin American 2 Sub 2450 A=0.7139 G=0.2861
Allele Frequency Aggregator Other Sub 1060 A=0.6349 G=0.3651
Allele Frequency Aggregator Latin American 1 Sub 192 A=0.672 G=0.328
Allele Frequency Aggregator Asian Sub 80 A=0.68 G=0.33
Allele Frequency Aggregator South Asian Sub 42 A=0.81 G=0.19
8.3KJPN JAPANESE Study-wide 16760 A=0.61390 G=0.38610
1000Genomes_30x Global Study-wide 6404 A=0.5073 G=0.4927
1000Genomes_30x African Sub 1786 A=0.3567 G=0.6433
1000Genomes_30x Europe Sub 1266 A=0.5450 G=0.4550
1000Genomes_30x South Asian Sub 1202 A=0.5258 G=0.4742
1000Genomes_30x East Asian Sub 1170 A=0.5427 G=0.4573
1000Genomes_30x American Sub 980 A=0.668 G=0.332
1000Genomes Global Study-wide 5008 A=0.5040 G=0.4960
1000Genomes African Sub 1322 A=0.3442 G=0.6558
1000Genomes East Asian Sub 1008 A=0.5367 G=0.4633
1000Genomes Europe Sub 1006 A=0.5477 G=0.4523
1000Genomes South Asian Sub 978 A=0.529 G=0.471
1000Genomes American Sub 694 A=0.663 G=0.337
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.4799 G=0.5201
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.5573 G=0.4427
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.5720 G=0.4280
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.6208 G=0.3792
Korean Genome Project KOREAN Study-wide 1832 A=0.6234 G=0.3766
HapMap Global Study-wide 1788 A=0.4469 G=0.5531
HapMap African Sub 690 A=0.316 G=0.684
HapMap American Sub 670 A=0.533 G=0.467
HapMap Asian Sub 254 A=0.543 G=0.457
HapMap Europe Sub 174 A=0.494 G=0.506
Genome-wide autozygosity in Daghestan Global Study-wide 1134 A=0.5591 G=0.4409
Genome-wide autozygosity in Daghestan Daghestan Sub 626 A=0.575 G=0.425
Genome-wide autozygosity in Daghestan Near_East Sub 144 A=0.493 G=0.507
Genome-wide autozygosity in Daghestan Central Asia Sub 122 A=0.623 G=0.377
Genome-wide autozygosity in Daghestan Europe Sub 108 A=0.528 G=0.472
Genome-wide autozygosity in Daghestan South Asian Sub 98 A=0.49 G=0.51
Genome-wide autozygosity in Daghestan Caucasus Sub 36 A=0.61 G=0.39
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.523 G=0.477
Chileans Chilean Study-wide 626 A=0.704 G=0.296
Northern Sweden ACPOP Study-wide 600 A=0.555 G=0.445
SGDP_PRJ Global Study-wide 394 A=0.338 G=0.662
Qatari Global Study-wide 216 A=0.481 G=0.519
A Vietnamese Genetic Variation Database Global Study-wide 216 A=0.542 G=0.458
The Danish reference pan genome Danish Study-wide 40 A=0.57 G=0.42
Siberian Global Study-wide 38 A=0.39 G=0.61
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 18 A=0.56 G=0.44
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 5 NC_000005.10:g.135609392A>G
GRCh37.p13 chr 5 NC_000005.9:g.134945082A>G
Gene: SLC25A48, solute carrier family 25 member 48 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SLC25A48 transcript variant 3 NM_001349335.2:c.-848-198…

NM_001349335.2:c.-848-19845A>G

 		N/A Intron Variant
SLC25A48 transcript variant 5 NM_001349345.2:c.-848-198…

NM_001349345.2:c.-848-19845A>G

 		N/A Intron Variant
SLC25A48 transcript variant 1 NM_001349336.2:c. N/A Genic Upstream Transcript Variant
SLC25A48 transcript variant 2 NM_145282.5:c. N/A Genic Upstream Transcript Variant
SLC25A48 transcript variant 4 NR_146141.2:n. N/A Genic Upstream Transcript Variant
SLC25A48 transcript variant X9 XM_005271903.2:c. N/A Genic Upstream Transcript Variant
SLC25A48 transcript variant X2 XM_006714544.2:c. N/A Genic Upstream Transcript Variant
SLC25A48 transcript variant X7 XM_006714550.2:c. N/A Genic Upstream Transcript Variant
SLC25A48 transcript variant X14 XM_006714552.3:c. N/A Genic Upstream Transcript Variant
SLC25A48 transcript variant X8 XM_011543196.2:c. N/A Genic Upstream Transcript Variant
SLC25A48 transcript variant X10 XM_011543199.2:c. N/A Genic Upstream Transcript Variant
SLC25A48 transcript variant X3 XM_017009087.2:c. N/A Genic Upstream Transcript Variant
SLC25A48 transcript variant X4 XM_017009088.2:c. N/A Genic Upstream Transcript Variant
SLC25A48 transcript variant X6 XM_017009089.2:c. N/A Genic Upstream Transcript Variant
SLC25A48 transcript variant X11 XM_017009091.2:c. N/A Genic Upstream Transcript Variant
SLC25A48 transcript variant X1 XM_047416804.1:c. N/A Genic Upstream Transcript Variant
SLC25A48 transcript variant X5 XM_047416805.1:c. N/A Genic Upstream Transcript Variant
SLC25A48 transcript variant X12 XM_047416806.1:c. N/A Genic Upstream Transcript Variant
SLC25A48 transcript variant X13 XM_047416807.1: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 A= G
GRCh38.p14 chr 5 NC_000005.10:g.135609392= NC_000005.10:g.135609392A>G
GRCh37.p13 chr 5 NC_000005.9:g.134945082= NC_000005.9:g.134945082A>G
SLC25A48 transcript variant 3 NM_001349335.2:c.-848-19845= NM_001349335.2:c.-848-19845A>G
SLC25A48 transcript variant 5 NM_001349345.2:c.-848-19845= NM_001349345.2:c.-848-19845A>G
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#.

78 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss11724568 Jul 11, 2003 (116)
2 AFFY ss66092256 Dec 01, 2006 (127)
3 AFFY ss76047872 Dec 08, 2007 (130)
4 HGSV ss81488114 Dec 15, 2007 (130)
5 HGSV ss82047603 Dec 15, 2007 (130)
6 KRIBB_YJKIM ss82478296 Dec 14, 2007 (130)
7 BCMHGSC_JDW ss93259873 Mar 24, 2008 (129)
8 HUMANGENOME_JCVI ss98767269 Feb 05, 2009 (130)
9 1000GENOMES ss109439203 Jan 24, 2009 (130)
10 1000GENOMES ss113312561 Jan 25, 2009 (130)
11 ILLUMINA-UK ss116824805 Feb 14, 2009 (130)
12 ENSEMBL ss139495125 Dec 01, 2009 (131)
13 GMI ss156066247 Dec 01, 2009 (131)
14 COMPLETE_GENOMICS ss162689542 Jul 04, 2010 (132)
15 COMPLETE_GENOMICS ss165914671 Jul 04, 2010 (132)
16 AFFY ss172314052 Jul 04, 2010 (132)
17 BUSHMAN ss200902274 Jul 04, 2010 (132)
18 BCM-HGSC-SUB ss206707724 Jul 04, 2010 (132)
19 1000GENOMES ss221982014 Jul 14, 2010 (132)
20 1000GENOMES ss233160562 Jul 14, 2010 (132)
21 1000GENOMES ss240279074 Jul 15, 2010 (132)
22 GMI ss278492345 May 04, 2012 (137)
23 GMI ss285267645 Apr 25, 2013 (138)
24 PJP ss293465880 May 09, 2011 (134)
25 TISHKOFF ss558731895 Apr 25, 2013 (138)
26 SSMP ss652631056 Apr 25, 2013 (138)
27 EVA-GONL ss982154561 Aug 21, 2014 (142)
28 JMKIDD_LAB ss1073064463 Aug 21, 2014 (142)
29 1000GENOMES ss1317335626 Aug 21, 2014 (142)
30 HAMMER_LAB ss1397428510 Sep 08, 2015 (146)
31 DDI ss1430511469 Apr 01, 2015 (144)
32 EVA_GENOME_DK ss1581362562 Apr 01, 2015 (144)
33 EVA_DECODE ss1591682889 Apr 01, 2015 (144)
34 EVA_UK10K_ALSPAC ss1614075259 Apr 01, 2015 (144)
35 EVA_UK10K_TWINSUK ss1657069292 Apr 01, 2015 (144)
36 EVA_SVP ss1712802267 Apr 01, 2015 (144)
37 HAMMER_LAB ss1804094917 Sep 08, 2015 (146)
38 WEILL_CORNELL_DGM ss1925411261 Feb 12, 2016 (147)
39 GENOMED ss1970215058 Jul 19, 2016 (147)
40 JJLAB ss2023311084 Sep 14, 2016 (149)
41 USC_VALOUEV ss2151468251 Dec 20, 2016 (150)
42 HUMAN_LONGEVITY ss2278402788 Dec 20, 2016 (150)
43 SYSTEMSBIOZJU ss2626143916 Nov 08, 2017 (151)
44 GRF ss2707032247 Nov 08, 2017 (151)
45 GNOMAD ss2831109215 Nov 08, 2017 (151)
46 SWEGEN ss2997839177 Nov 08, 2017 (151)
47 BIOINF_KMB_FNS_UNIBA ss3025438160 Nov 08, 2017 (151)
48 CSHL ss3346641256 Nov 08, 2017 (151)
49 URBANLAB ss3648175157 Oct 12, 2018 (152)
50 EGCUT_WGS ss3665753796 Jul 13, 2019 (153)
51 EVA_DECODE ss3715758144 Jul 13, 2019 (153)
52 ACPOP ss3732842084 Jul 13, 2019 (153)
53 EVA ss3764097049 Jul 13, 2019 (153)
54 PACBIO ss3785257346 Jul 13, 2019 (153)
55 PACBIO ss3790639698 Jul 13, 2019 (153)
56 PACBIO ss3795516648 Jul 13, 2019 (153)
57 KHV_HUMAN_GENOMES ss3807271374 Jul 13, 2019 (153)
58 EVA ss3829519082 Apr 26, 2020 (154)
59 EVA ss3838233711 Apr 26, 2020 (154)
60 EVA ss3843676352 Apr 26, 2020 (154)
61 SGDP_PRJ ss3863038317 Apr 26, 2020 (154)
62 KRGDB ss3909683678 Apr 26, 2020 (154)
63 KOGIC ss3957701331 Apr 26, 2020 (154)
64 EVA ss3985171873 Apr 26, 2021 (155)
65 TOPMED ss4679740408 Apr 26, 2021 (155)
66 TOMMO_GENOMICS ss5174271791 Apr 26, 2021 (155)
67 1000G_HIGH_COVERAGE ss5265948061 Oct 13, 2022 (156)
68 EVA ss5361155655 Oct 13, 2022 (156)
69 HUGCELL_USP ss5463904787 Oct 13, 2022 (156)
70 EVA ss5508225797 Oct 13, 2022 (156)
71 1000G_HIGH_COVERAGE ss5550648755 Oct 13, 2022 (156)
72 SANFORD_IMAGENETICS ss5638942731 Oct 13, 2022 (156)
73 TOMMO_GENOMICS ss5711387097 Oct 13, 2022 (156)
74 YY_MCH ss5806790632 Oct 13, 2022 (156)
75 EVA ss5835682038 Oct 13, 2022 (156)
76 EVA ss5855029510 Oct 13, 2022 (156)
77 EVA ss5896441839 Oct 13, 2022 (156)
78 EVA ss5967411656 Oct 13, 2022 (156)
79 1000Genomes NC_000005.9 - 134945082 Oct 12, 2018 (152)
80 1000Genomes_30x NC_000005.10 - 135609392 Oct 13, 2022 (156)
81 The Avon Longitudinal Study of Parents and Children NC_000005.9 - 134945082 Oct 12, 2018 (152)
82 Chileans NC_000005.9 - 134945082 Apr 26, 2020 (154)
83 Genome-wide autozygosity in Daghestan NC_000005.8 - 134972981 Apr 26, 2020 (154)
84 Genetic variation in the Estonian population NC_000005.9 - 134945082 Oct 12, 2018 (152)
85 The Danish reference pan genome NC_000005.9 - 134945082 Apr 26, 2020 (154)
86 gnomAD - Genomes NC_000005.10 - 135609392 Apr 26, 2021 (155)
87 Genome of the Netherlands Release 5 NC_000005.9 - 134945082 Apr 26, 2020 (154)
88 HapMap NC_000005.10 - 135609392 Apr 26, 2020 (154)
89 KOREAN population from KRGDB NC_000005.9 - 134945082 Apr 26, 2020 (154)
90 Korean Genome Project NC_000005.10 - 135609392 Apr 26, 2020 (154)
91 Northern Sweden NC_000005.9 - 134945082 Jul 13, 2019 (153)
92 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000005.9 - 134945082 Apr 26, 2021 (155)
93 Qatari NC_000005.9 - 134945082 Apr 26, 2020 (154)
94 SGDP_PRJ NC_000005.9 - 134945082 Apr 26, 2020 (154)
95 Siberian NC_000005.9 - 134945082 Apr 26, 2020 (154)
96 8.3KJPN NC_000005.9 - 134945082 Apr 26, 2021 (155)
97 14KJPN NC_000005.10 - 135609392 Oct 13, 2022 (156)
98 TopMed NC_000005.10 - 135609392 Apr 26, 2021 (155)
99 UK 10K study - Twins NC_000005.9 - 134945082 Oct 12, 2018 (152)
100 A Vietnamese Genetic Variation Database NC_000005.9 - 134945082 Jul 13, 2019 (153)
101 ALFA NC_000005.10 - 135609392 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).

Associated ID History Updated (Build)
rs56563265 May 24, 2008 (130)
rs57075636 Feb 26, 2009 (130)
rs58858302 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
403359, ss81488114, ss82047603, ss93259873, ss109439203, ss113312561, ss116824805, ss162689542, ss165914671, ss200902274, ss206707724, ss278492345, ss285267645, ss293465880, ss1397428510, ss1591682889, ss1712802267 NC_000005.8:134972980:A:G NC_000005.10:135609391:A:G (self)
29018386, 16140820, 359324, 11492044, 7527501, 7172814, 16861072, 6126949, 397800, 7453191, 15055297, 3984605, 32241098, 16140820, 3579402, ss221982014, ss233160562, ss240279074, ss558731895, ss652631056, ss982154561, ss1073064463, ss1317335626, ss1430511469, ss1581362562, ss1614075259, ss1657069292, ss1804094917, ss1925411261, ss1970215058, ss2023311084, ss2151468251, ss2626143916, ss2707032247, ss2831109215, ss2997839177, ss3346641256, ss3665753796, ss3732842084, ss3764097049, ss3785257346, ss3790639698, ss3795516648, ss3829519082, ss3838233711, ss3863038317, ss3909683678, ss3985171873, ss5174271791, ss5361155655, ss5508225797, ss5638942731, ss5835682038, ss5967411656 NC_000005.9:134945081:A:G NC_000005.10:135609391:A:G (self)
38174690, 205233935, 2974035, 14079332, 45224201, 517117965, 3911920324, ss2278402788, ss3025438160, ss3648175157, ss3715758144, ss3807271374, ss3843676352, ss3957701331, ss4679740408, ss5265948061, ss5463904787, ss5550648755, ss5711387097, ss5806790632, ss5855029510, ss5896441839 NC_000005.10:135609391:A:G NC_000005.10:135609391:A:G (self)
ss11724568 NT_034772.4:37360102:A:G NC_000005.10:135609391:A:G (self)
ss66092256, ss76047872, ss82478296, ss98767269, ss139495125, ss156066247, ss172314052 NT_034772.6:43258953:A:G NC_000005.10:135609391:A:G (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 rs7715094

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