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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.

rs77668792

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:77023638 (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=0.006396 (1693/264690, TOPMED)
G=0.006031 (846/140280, GnomAD)
G=0.00835 (255/30544, ALFA) (+ 8 more)
G=0.0039 (25/6404, 1000G_30x)
G=0.0034 (17/5008, 1000G)
G=0.0013 (6/4480, Estonian)
G=0.0140 (54/3854, ALSPAC)
G=0.0067 (25/3708, TWINSUK)
G=0.010 (10/998, GoNL)
G=0.032 (7/216, Qatari)
A=0.2 (1/4, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ACER3 : 3 Prime UTR Variant
LOC124902721 : 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 30544 A=0.99165 G=0.00835
European Sub 24490 A=0.99081 G=0.00919
African Sub 3138 A=0.9968 G=0.0032
African Others Sub 124 A=1.000 G=0.000
African American Sub 3014 A=0.9967 G=0.0033
Asian Sub 126 A=1.000 G=0.000
East Asian Sub 98 A=1.00 G=0.00
Other Asian Sub 28 A=1.00 G=0.00
Latin American 1 Sub 164 A=0.970 G=0.030
Latin American 2 Sub 684 A=0.996 G=0.004
South Asian Sub 114 A=1.000 G=0.000
Other Sub 1828 A=0.9934 G=0.0066


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=0.993604 G=0.006396
gnomAD - Genomes Global Study-wide 140280 A=0.993969 G=0.006031
gnomAD - Genomes European Sub 75958 A=0.99239 G=0.00761
gnomAD - Genomes African Sub 42050 A=0.99795 G=0.00205
gnomAD - Genomes American Sub 13666 A=0.99268 G=0.00732
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.9810 G=0.0190
gnomAD - Genomes East Asian Sub 3134 A=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2150 A=0.9912 G=0.0088
Allele Frequency Aggregator Total Global 30544 A=0.99165 G=0.00835
Allele Frequency Aggregator European Sub 24490 A=0.99081 G=0.00919
Allele Frequency Aggregator African Sub 3138 A=0.9968 G=0.0032
Allele Frequency Aggregator Other Sub 1828 A=0.9934 G=0.0066
Allele Frequency Aggregator Latin American 2 Sub 684 A=0.996 G=0.004
Allele Frequency Aggregator Latin American 1 Sub 164 A=0.970 G=0.030
Allele Frequency Aggregator Asian Sub 126 A=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 114 A=1.000 G=0.000
1000Genomes_30x Global Study-wide 6404 A=0.9961 G=0.0039
1000Genomes_30x African Sub 1786 A=0.9994 G=0.0006
1000Genomes_30x Europe Sub 1266 A=0.9937 G=0.0063
1000Genomes_30x South Asian Sub 1202 A=0.9950 G=0.0050
1000Genomes_30x East Asian Sub 1170 A=1.0000 G=0.0000
1000Genomes_30x American Sub 980 A=0.990 G=0.010
1000Genomes Global Study-wide 5008 A=0.9966 G=0.0034
1000Genomes African Sub 1322 A=0.9992 G=0.0008
1000Genomes East Asian Sub 1008 A=1.0000 G=0.0000
1000Genomes Europe Sub 1006 A=0.9950 G=0.0050
1000Genomes South Asian Sub 978 A=0.995 G=0.005
1000Genomes American Sub 694 A=0.991 G=0.009
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.9987 G=0.0013
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.9860 G=0.0140
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.9933 G=0.0067
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.990 G=0.010
Qatari Global Study-wide 216 A=0.968 G=0.032
SGDP_PRJ Global Study-wide 4 A=0.2 G=0.8
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 11 NC_000011.10:g.77023638A>G
GRCh37.p13 chr 11 NC_000011.9:g.76734682A>G
GRCh37.p13 chr 11 fix patch HG414_PATCH NW_003871081.1:g.25275A>G
Gene: ACER3, alkaline ceramidase 3 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ACER3 transcript variant 1 NM_018367.7:c.*3311= N/A 3 Prime UTR Variant
ACER3 transcript variant 3 NM_001300954.2:c.*3311= N/A 3 Prime UTR Variant
ACER3 transcript variant 4 NM_001300955.2:c.*3311= N/A 3 Prime UTR Variant
ACER3 transcript variant 2 NM_001300953.2:c.*3311= N/A 3 Prime UTR Variant
ACER3 transcript variant X1 XM_011545151.3:c.*3311= N/A 3 Prime UTR Variant
ACER3 transcript variant X2 XM_011545152.3:c.*3311= N/A 3 Prime UTR Variant
ACER3 transcript variant X3 XM_017017987.2:c. N/A Genic Downstream Transcript Variant
ACER3 transcript variant X4 XM_047427235.1:c. N/A Genic Downstream Transcript Variant
ACER3 transcript variant X5 XR_007062489.1:n. N/A Genic Downstream Transcript Variant
Gene: LOC124902721, uncharacterized LOC124902721 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC124902721 transcript variant X3 XR_007062792.1:n. N/A Intron Variant
LOC124902721 transcript variant X1 XR_007062790.1:n. N/A Genic Upstream Transcript Variant
LOC124902721 transcript variant X2 XR_007062791.1:n. N/A Genic Upstream Transcript Variant
LOC124902721 transcript variant X4 XR_007062793.1:n. 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 11 NC_000011.10:g.77023638= NC_000011.10:g.77023638A>G
GRCh37.p13 chr 11 NC_000011.9:g.76734682= NC_000011.9:g.76734682A>G
GRCh37.p13 chr 11 fix patch HG414_PATCH NW_003871081.1:g.25275= NW_003871081.1:g.25275A>G
ACER3 transcript variant 1 NM_018367.7:c.*3311= NM_018367.7:c.*3311A>G
ACER3 transcript variant 1 NM_018367.6:c.*3311= NM_018367.6:c.*3311A>G
ACER3 transcript NM_018367.5:c.*3311= NM_018367.5:c.*3311A>G
ACER3 transcript variant X2 XM_011545152.3:c.*3311= XM_011545152.3:c.*3311A>G
ACER3 transcript variant X2 XM_011545152.2:c.*3311= XM_011545152.2:c.*3311A>G
ACER3 transcript variant X3 XM_011545152.1:c.*3311= XM_011545152.1:c.*3311A>G
ACER3 transcript variant X1 XM_011545151.3:c.*3311= XM_011545151.3:c.*3311A>G
ACER3 transcript variant X1 XM_011545151.2:c.*3311= XM_011545151.2:c.*3311A>G
ACER3 transcript variant X1 XM_011545151.1:c.*3311= XM_011545151.1:c.*3311A>G
ACER3 transcript variant 3 NM_001300954.2:c.*3311= NM_001300954.2:c.*3311A>G
ACER3 transcript variant 3 NM_001300954.1:c.*3311= NM_001300954.1:c.*3311A>G
ACER3 transcript variant 4 NM_001300955.2:c.*3311= NM_001300955.2:c.*3311A>G
ACER3 transcript variant 4 NM_001300955.1:c.*3311= NM_001300955.1:c.*3311A>G
ACER3 transcript variant 2 NM_001300953.2:c.*3311= NM_001300953.2:c.*3311A>G
ACER3 transcript variant 2 NM_001300953.1:c.*3311= NM_001300953.1:c.*3311A>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#.

33 SubSNP, 11 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss235618456 Jul 15, 2010 (132)
2 ILLUMINA ss482892977 May 04, 2012 (137)
3 ILLUMINA ss484233432 May 04, 2012 (137)
4 ILLUMINA ss536419586 Sep 11, 2015 (146)
5 ILLUMINA ss778684872 Sep 11, 2015 (146)
6 ILLUMINA ss782562691 Sep 11, 2015 (146)
7 ILLUMINA ss834143505 Sep 11, 2015 (146)
8 EVA-GONL ss988695930 Aug 21, 2014 (142)
9 1000GENOMES ss1341963489 Aug 21, 2014 (142)
10 DDI ss1426681231 Apr 09, 2015 (144)
11 EVA_DECODE ss1598357058 Apr 01, 2015 (144)
12 EVA_UK10K_ALSPAC ss1626935723 Apr 09, 2015 (144)
13 EVA_UK10K_TWINSUK ss1669929756 Apr 09, 2015 (144)
14 WEILL_CORNELL_DGM ss1932051810 Feb 17, 2016 (147)
15 JJLAB ss2026769956 Sep 28, 2016 (149)
16 HUMAN_LONGEVITY ss2183702543 Dec 20, 2016 (150)
17 GNOMAD ss2901634225 Oct 12, 2018 (152)
18 SWEGEN ss3008377367 Oct 12, 2018 (152)
19 ILLUMINA ss3626694772 Oct 12, 2018 (152)
20 ILLUMINA ss3630869215 Oct 12, 2018 (152)
21 EGCUT_WGS ss3675697710 Jul 13, 2019 (153)
22 EVA_DECODE ss3692120806 Jul 13, 2019 (153)
23 EVA ss3825805654 Apr 26, 2020 (154)
24 SGDP_PRJ ss3876614966 Apr 26, 2020 (154)
25 GNOMAD ss4238158169 Apr 26, 2021 (155)
26 TOPMED ss4891228707 Apr 26, 2021 (155)
27 1000G_HIGH_COVERAGE ss5288031774 Oct 16, 2022 (156)
28 EVA ss5400666285 Oct 16, 2022 (156)
29 HUGCELL_USP ss5483125656 Oct 16, 2022 (156)
30 1000G_HIGH_COVERAGE ss5584052698 Oct 16, 2022 (156)
31 EVA ss5836890650 Oct 16, 2022 (156)
32 EVA ss5920658900 Oct 16, 2022 (156)
33 EVA ss5942876856 Oct 16, 2022 (156)
34 1000Genomes NC_000011.9 - 76734682 Oct 12, 2018 (152)
35 1000Genomes_30x NC_000011.10 - 77023638 Oct 16, 2022 (156)
36 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 76734682 Oct 12, 2018 (152)
37 Genetic variation in the Estonian population NC_000011.9 - 76734682 Oct 12, 2018 (152)
38 gnomAD - Genomes NC_000011.10 - 77023638 Apr 26, 2021 (155)
39 Genome of the Netherlands Release 5 NC_000011.9 - 76734682 Apr 26, 2020 (154)
40 Qatari NC_000011.9 - 76734682 Apr 26, 2020 (154)
41 SGDP_PRJ NC_000011.9 - 76734682 Apr 26, 2020 (154)
42 TopMed NC_000011.10 - 77023638 Apr 26, 2021 (155)
43 UK 10K study - Twins NC_000011.9 - 76734682 Oct 12, 2018 (152)
44 ALFA NC_000011.10 - 77023638 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
ss482892977, ss1598357058 NC_000011.8:76412329:A:G NC_000011.10:77023637:A:G (self)
54509255, 30254544, 21435958, 13498907, 14093740, 28631946, 30254544, ss235618456, ss484233432, ss536419586, ss778684872, ss782562691, ss834143505, ss988695930, ss1341963489, ss1426681231, ss1626935723, ss1669929756, ss1932051810, ss2026769956, ss2901634225, ss3008377367, ss3626694772, ss3630869215, ss3675697710, ss3825805654, ss3876614966, ss5400666285, ss5836890650, ss5942876856 NC_000011.9:76734681:A:G NC_000011.10:77023637:A:G (self)
71578633, 384751080, 106774363, 371961569, ss2183702543, ss3692120806, ss4238158169, ss4891228707, ss5288031774, ss5483125656, ss5584052698, ss5920658900 NC_000011.10:77023637:A:G NC_000011.10:77023637: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 rs77668792

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