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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.

rs183878814

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:151477286 (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
T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000790 (209/264690, TOPMED)
G=0.000165 (40/242122, GnomAD_exome)
G=0.000613 (86/140250, GnomAD) (+ 5 more)
G=0.000173 (21/121298, ExAC)
G=0.00092 (12/13006, GO-ESP)
G=0.00065 (8/12232, ALFA)
G=0.0014 (9/6404, 1000G_30x)
G=0.0016 (8/5008, 1000G)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RHEB : 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 12232 T=0.99935 G=0.00065
European Sub 7752 T=1.0000 G=0.0000
African Sub 2864 T=0.9976 G=0.0024
African Others Sub 108 T=0.991 G=0.009
African American Sub 2756 T=0.9978 G=0.0022
Asian Sub 108 T=1.000 G=0.000
East Asian Sub 84 T=1.00 G=0.00
Other Asian Sub 24 T=1.00 G=0.00
Latin American 1 Sub 146 T=1.000 G=0.000
Latin American 2 Sub 610 T=0.998 G=0.002
South Asian Sub 94 T=1.00 G=0.00
Other Sub 658 T=1.000 G=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
TopMed Global Study-wide 264690 T=0.999210 G=0.000790
gnomAD - Exomes Global Study-wide 242122 T=0.999835 G=0.000165
gnomAD - Exomes European Sub 132404 T=1.000000 G=0.000000
gnomAD - Exomes Asian Sub 46684 T=1.00000 G=0.00000
gnomAD - Exomes American Sub 31408 T=0.99990 G=0.00010
gnomAD - Exomes African Sub 15964 T=0.99768 G=0.00232
gnomAD - Exomes Ashkenazi Jewish Sub 9780 T=1.0000 G=0.0000
gnomAD - Exomes Other Sub 5882 T=1.0000 G=0.0000
gnomAD - Genomes Global Study-wide 140250 T=0.999387 G=0.000613
gnomAD - Genomes European Sub 75958 T=1.00000 G=0.00000
gnomAD - Genomes African Sub 42034 T=0.99805 G=0.00195
gnomAD - Genomes American Sub 13654 T=0.99971 G=0.00029
gnomAD - Genomes Ashkenazi Jewish Sub 3318 T=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3134 T=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2152 T=1.0000 G=0.0000
ExAC Global Study-wide 121298 T=0.999827 G=0.000173
ExAC Europe Sub 73290 T=1.00000 G=0.00000
ExAC Asian Sub 25150 T=1.00000 G=0.00000
ExAC American Sub 11562 T=1.00000 G=0.00000
ExAC African Sub 10392 T=0.99798 G=0.00202
ExAC Other Sub 904 T=1.000 G=0.000
GO Exome Sequencing Project Global Study-wide 13006 T=0.99908 G=0.00092
GO Exome Sequencing Project European American Sub 8600 T=1.0000 G=0.0000
GO Exome Sequencing Project African American Sub 4406 T=0.9973 G=0.0027
Allele Frequency Aggregator Total Global 12232 T=0.99935 G=0.00065
Allele Frequency Aggregator European Sub 7752 T=1.0000 G=0.0000
Allele Frequency Aggregator African Sub 2864 T=0.9976 G=0.0024
Allele Frequency Aggregator Other Sub 658 T=1.000 G=0.000
Allele Frequency Aggregator Latin American 2 Sub 610 T=0.998 G=0.002
Allele Frequency Aggregator Latin American 1 Sub 146 T=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 108 T=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 94 T=1.00 G=0.00
1000Genomes_30x Global Study-wide 6404 T=0.9986 G=0.0014
1000Genomes_30x African Sub 1786 T=0.9950 G=0.0050
1000Genomes_30x Europe Sub 1266 T=1.0000 G=0.0000
1000Genomes_30x South Asian Sub 1202 T=1.0000 G=0.0000
1000Genomes_30x East Asian Sub 1170 T=1.0000 G=0.0000
1000Genomes_30x American Sub 980 T=1.000 G=0.000
1000Genomes Global Study-wide 5008 T=0.9984 G=0.0016
1000Genomes African Sub 1322 T=0.9939 G=0.0061
1000Genomes East Asian Sub 1008 T=1.0000 G=0.0000
1000Genomes Europe Sub 1006 T=1.0000 G=0.0000
1000Genomes South Asian Sub 978 T=1.000 G=0.000
1000Genomes American Sub 694 T=1.000 G=0.000
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 7 NC_000007.14:g.151477286T>G
GRCh37.p13 chr 7 NC_000007.13:g.151174372T>G
Gene: RHEB, Ras homolog, mTORC1 binding (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RHEB transcript NM_005614.4:c.275+47A>C N/A Intron Variant
RHEB transcript variant X1 XM_011516457.3:c.242+47A>C N/A Intron Variant
RHEB transcript variant X2 XM_024446854.2:c.242+47A>C N/A Intron Variant
RHEB transcript variant X3 XM_047420685.1:c.242+47A>C N/A Intron 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 T= G
GRCh38.p14 chr 7 NC_000007.14:g.151477286= NC_000007.14:g.151477286T>G
GRCh37.p13 chr 7 NC_000007.13:g.151174372= NC_000007.13:g.151174372T>G
RHEB transcript NM_005614.3:c.275+47= NM_005614.3:c.275+47A>C
RHEB transcript NM_005614.4:c.275+47= NM_005614.4:c.275+47A>C
RHEB transcript variant X1 XM_005250034.1:c.242+47= XM_005250034.1:c.242+47A>C
RHEB transcript variant X1 XM_011516457.3:c.242+47= XM_011516457.3:c.242+47A>C
RHEB transcript variant X2 XM_024446854.2:c.242+47= XM_024446854.2:c.242+47A>C
RHEB transcript variant X3 XM_047420685.1:c.242+47= XM_047420685.1:c.242+47A>C
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#.

17 SubSNP, 8 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss460083787 Sep 17, 2011 (135)
2 1000GENOMES ss490957709 May 04, 2012 (137)
3 NHLBI-ESP ss712813379 Apr 25, 2013 (138)
4 1000GENOMES ss1327756746 Aug 21, 2014 (142)
5 EVA_EXAC ss1689036828 Apr 01, 2015 (144)
6 HUMAN_LONGEVITY ss2299098453 Dec 20, 2016 (150)
7 GNOMAD ss2736908374 Nov 08, 2017 (151)
8 GNOMAD ss2747968990 Nov 08, 2017 (151)
9 GNOMAD ss2860895202 Nov 08, 2017 (151)
10 EVA ss3824336309 Apr 26, 2020 (154)
11 TOPMED ss4769112699 Apr 26, 2021 (155)
12 1000G_HIGH_COVERAGE ss5275301932 Oct 17, 2022 (156)
13 EVA ss5377787726 Oct 17, 2022 (156)
14 1000G_HIGH_COVERAGE ss5564737231 Oct 17, 2022 (156)
15 SANFORD_IMAGENETICS ss5644307226 Oct 17, 2022 (156)
16 EVA ss5861505619 Oct 17, 2022 (156)
17 EVA ss5973508303 Oct 17, 2022 (156)
18 1000Genomes NC_000007.13 - 151174372 Oct 12, 2018 (152)
19 1000Genomes_30x NC_000007.14 - 151477286 Oct 17, 2022 (156)
20 ExAC NC_000007.13 - 151174372 Oct 12, 2018 (152)
21 gnomAD - Genomes NC_000007.14 - 151477286 Apr 26, 2021 (155)
22 gnomAD - Exomes NC_000007.13 - 151174372 Jul 13, 2019 (153)
23 GO Exome Sequencing Project NC_000007.13 - 151174372 Oct 12, 2018 (152)
24 TopMed NC_000007.14 - 151477286 Apr 26, 2021 (155)
25 ALFA NC_000007.14 - 151477286 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
39823337, 9125728, 6071916, 794173, ss460083787, ss490957709, ss712813379, ss1327756746, ss1689036828, ss2736908374, ss2747968990, ss2860895202, ss3824336309, ss5377787726, ss5644307226, ss5973508303 NC_000007.13:151174371:T:G NC_000007.14:151477285:T:G (self)
52263166, 281195991, 606490258, 12718526959, ss2299098453, ss4769112699, ss5275301932, ss5564737231, ss5861505619 NC_000007.14:151477285:T:G NC_000007.14:151477285:T: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 rs183878814

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