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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.

rs752020063

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:80208372-80208376 (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
delG
Variation Type
Indel Insertion and Deletion
Frequency
delG=0.000026 (7/264690, TOPMED)
delG=0.000045 (8/176286, GnomAD_exome)
delG=0.000029 (4/140274, GnomAD) (+ 2 more)
delG=0.00000 (0/37330, ExAC)
delG=0.00009 (2/23038, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CARD14 : Non Coding Transcript Variant
SGSH : Intron Variant
LOC124905607 : 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 23038 GGGGG=0.99991 GGGG=0.00009
European Sub 15752 GGGGG=1.00000 GGGG=0.00000
African Sub 3492 GGGGG=1.0000 GGGG=0.0000
African Others Sub 122 GGGGG=1.000 GGGG=0.000
African American Sub 3370 GGGGG=1.0000 GGGG=0.0000
Asian Sub 168 GGGGG=1.000 GGGG=0.000
East Asian Sub 112 GGGGG=1.000 GGGG=0.000
Other Asian Sub 56 GGGGG=1.00 GGGG=0.00
Latin American 1 Sub 146 GGGGG=1.000 GGGG=0.000
Latin American 2 Sub 610 GGGGG=1.000 GGGG=0.000
South Asian Sub 98 GGGGG=1.00 GGGG=0.00
Other Sub 2772 GGGGG=0.9993 GGGG=0.0007


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 (G)5=0.999974 delG=0.000026
gnomAD - Exomes Global Study-wide 176286 (G)5=0.999955 delG=0.000045
gnomAD - Exomes European Sub 89672 (G)5=0.99996 delG=0.00004
gnomAD - Exomes Asian Sub 37270 (G)5=0.99995 delG=0.00005
gnomAD - Exomes American Sub 25458 (G)5=0.99996 delG=0.00004
gnomAD - Exomes African Sub 11424 (G)5=1.00000 delG=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 7854 (G)5=1.0000 delG=0.0000
gnomAD - Exomes Other Sub 4608 (G)5=0.9998 delG=0.0002
gnomAD - Genomes Global Study-wide 140274 (G)5=0.999971 delG=0.000029
gnomAD - Genomes European Sub 75950 (G)5=0.99995 delG=0.00005
gnomAD - Genomes African Sub 42054 (G)5=1.00000 delG=0.00000
gnomAD - Genomes American Sub 13664 (G)5=1.00000 delG=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 (G)5=1.0000 delG=0.0000
gnomAD - Genomes East Asian Sub 3132 (G)5=1.0000 delG=0.0000
gnomAD - Genomes Other Sub 2152 (G)5=1.0000 delG=0.0000
ExAC Global Study-wide 37330 (G)5=1.00000 delG=0.00000
ExAC Europe Sub 21120 (G)5=1.00000 delG=0.00000
ExAC Asian Sub 9926 (G)5=1.0000 delG=0.0000
ExAC African Sub 4608 (G)5=1.0000 delG=0.0000
ExAC American Sub 1424 (G)5=1.0000 delG=0.0000
ExAC Other Sub 252 (G)5=1.000 delG=0.000
Allele Frequency Aggregator Total Global 23038 (G)5=0.99991 delG=0.00009
Allele Frequency Aggregator European Sub 15752 (G)5=1.00000 delG=0.00000
Allele Frequency Aggregator African Sub 3492 (G)5=1.0000 delG=0.0000
Allele Frequency Aggregator Other Sub 2772 (G)5=0.9993 delG=0.0007
Allele Frequency Aggregator Latin American 2 Sub 610 (G)5=1.000 delG=0.000
Allele Frequency Aggregator Asian Sub 168 (G)5=1.000 delG=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 (G)5=1.000 delG=0.000
Allele Frequency Aggregator South Asian Sub 98 (G)5=1.00 delG=0.00
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 17 NC_000017.11:g.80208376del
GRCh37.p13 chr 17 NC_000017.10:g.78182175del
CARD14 RefSeqGene (LRG_1330) NG_032778.1:g.43385del
SGSH RefSeqGene NG_008229.1:g.17029del
GRCh38.p14 chr 17 fix patch HG2118_PATCH NW_025791802.1:g.233082del
Gene: CARD14, caspase recruitment domain family member 14 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CARD14 transcript variant 1 NM_024110.4:c.*27_*31= N/A 3 Prime UTR Variant
CARD14 transcript variant 5 NM_001366385.1:c.*27_*31= N/A 3 Prime UTR Variant
CARD14 transcript variant 3 NM_001257970.1:c. N/A Genic Downstream Transcript Variant
CARD14 transcript variant 2 NM_052819.3:c. N/A Genic Downstream Transcript Variant
CARD14 transcript variant 4 NR_047566.2:n.3183del N/A Non Coding Transcript Variant
CARD14 transcript variant X10 XM_011525218.2:c.*27_*31= N/A 3 Prime UTR Variant
CARD14 transcript variant X1 XM_047436713.1:c.*27_*31= N/A 3 Prime UTR Variant
CARD14 transcript variant X2 XM_047436714.1:c.*27_*31= N/A 3 Prime UTR Variant
CARD14 transcript variant X3 XM_047436715.1:c.*27_*31= N/A 3 Prime UTR Variant
CARD14 transcript variant X4 XM_011525213.2:c.*27_*31= N/A 3 Prime UTR Variant
CARD14 transcript variant X5 XM_011525216.2:c.*27_*31= N/A 3 Prime UTR Variant
CARD14 transcript variant X6 XM_047436716.1:c.*27_*31= N/A 3 Prime UTR Variant
CARD14 transcript variant X7 XM_047436717.1:c.*27_*31= N/A 3 Prime UTR Variant
CARD14 transcript variant X8 XM_047436718.1:c.*27_*31= N/A 3 Prime UTR Variant
CARD14 transcript variant X9 XM_047436719.1:c.*1283_*1…

XM_047436719.1:c.*1283_*1287=

 		N/A 3 Prime UTR Variant
CARD14 transcript variant X11 XM_047436720.1:c. N/A Genic Downstream Transcript Variant
CARD14 transcript variant X12 XM_047436721.1:c. N/A Genic Downstream Transcript Variant
CARD14 transcript variant X13 XM_047436722.1:c. N/A Genic Downstream Transcript Variant
CARD14 transcript variant X14 XM_047436723.1:c. N/A Genic Downstream Transcript Variant
Gene: SGSH, N-sulfoglucosamine sulfohydrolase (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SGSH transcript variant 1 NM_000199.5:c. N/A Genic Downstream Transcript Variant
SGSH transcript variant 2 NM_001352921.3:c. N/A Genic Downstream Transcript Variant
SGSH transcript variant 3 NM_001352922.2:c. N/A Genic Downstream Transcript Variant
SGSH transcript variant 4 NR_148201.2:n. N/A Genic Downstream Transcript Variant
SGSH transcript variant X28 XM_011525126.2:c. N/A Genic Downstream Transcript Variant
SGSH transcript variant X1 XR_001752585.1:n. N/A Intron Variant
SGSH transcript variant X14 XR_001752590.2:n. N/A Intron Variant
SGSH transcript variant X2 XR_007065401.1:n. N/A Intron Variant
SGSH transcript variant X5 XR_007065403.1:n. N/A Intron Variant
SGSH transcript variant X6 XR_007065404.1:n. N/A Intron Variant
SGSH transcript variant X7 XR_007065405.1:n. N/A Intron Variant
SGSH transcript variant X8 XR_007065406.1:n. N/A Intron Variant
SGSH transcript variant X9 XR_007065407.1:n. N/A Intron Variant
SGSH transcript variant X10 XR_007065408.1:n. N/A Intron Variant
SGSH transcript variant X11 XR_007065409.1:n. N/A Intron Variant
SGSH transcript variant X12 XR_007065410.1:n. N/A Intron Variant
SGSH transcript variant X13 XR_007065411.1:n. N/A Intron Variant
SGSH transcript variant X15 XR_007065412.1:n. N/A Intron Variant
SGSH transcript variant X16 XR_007065413.1:n. N/A Intron Variant
SGSH transcript variant X17 XR_007065414.1:n. N/A Intron Variant
SGSH transcript variant X18 XR_007065415.1:n. N/A Intron Variant
SGSH transcript variant X19 XR_007065416.1:n. N/A Intron Variant
SGSH transcript variant X20 XR_007065417.1:n. N/A Intron Variant
SGSH transcript variant X21 XR_007065418.1:n. N/A Intron Variant
SGSH transcript variant X22 XR_007065419.1:n. N/A Intron Variant
SGSH transcript variant X23 XR_007065420.1:n. N/A Intron Variant
SGSH transcript variant X24 XR_007065421.1:n. N/A Intron Variant
SGSH transcript variant X25 XR_007065422.1:n. N/A Intron Variant
SGSH transcript variant X26 XR_007065423.1:n. N/A Intron Variant
SGSH transcript variant X27 XR_007065424.1:n. N/A Intron Variant
SGSH transcript variant X4 XR_007065402.1:n. N/A Genic Downstream Transcript Variant
SGSH transcript variant X3 XR_934532.3:n. N/A Genic Downstream 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 (G)5= delG
GRCh38.p14 chr 17 NC_000017.11:g.80208372_80208376= NC_000017.11:g.80208376del
GRCh37.p13 chr 17 NC_000017.10:g.78182171_78182175= NC_000017.10:g.78182175del
CARD14 RefSeqGene (LRG_1330) NG_032778.1:g.43381_43385= NG_032778.1:g.43385del
CARD14 transcript variant 1 NM_024110.4:c.*27_*31= NM_024110.4:c.*31del
CARD14 transcript variant 4 NR_047566.2:n.3179_3183= NR_047566.2:n.3183del
CARD14 transcript variant 4 NR_047566.1:n.3217_3221= NR_047566.1:n.3221del
CARD14 transcript variant 5 NM_001366385.1:c.*27_*31= NM_001366385.1:c.*31del
SGSH RefSeqGene NG_008229.1:g.17025_17029= NG_008229.1:g.17029del
GRCh38.p14 chr 17 fix patch HG2118_PATCH NW_025791802.1:g.233078_233082= NW_025791802.1:g.233082del
CARD14 transcript variant X4 XM_011525213.2:c.*27_*31= XM_011525213.2:c.*31del
CARD14 transcript variant X1 XM_011525213.1:c.*27_*31= XM_011525213.1:c.*31del
CARD14 transcript variant X10 XM_011525218.2:c.*27_*31= XM_011525218.2:c.*31del
CARD14 transcript variant X7 XM_011525218.1:c.*27_*31= XM_011525218.1:c.*31del
CARD14 transcript variant X5 XM_011525216.2:c.*27_*31= XM_011525216.2:c.*31del
CARD14 transcript variant X2 XM_011525216.1:c.*27_*31= XM_011525216.1:c.*31del
CARD14 transcript variant X9 XM_047436719.1:c.*1283_*1287= XM_047436719.1:c.*1287del
CARD14 transcript variant X7 XM_047436717.1:c.*27_*31= XM_047436717.1:c.*31del
CARD14 transcript variant X3 XM_047436715.1:c.*27_*31= XM_047436715.1:c.*31del
CARD14 transcript variant X1 XM_047436713.1:c.*27_*31= XM_047436713.1:c.*31del
CARD14 transcript variant X2 XM_047436714.1:c.*27_*31= XM_047436714.1:c.*31del
CARD14 transcript variant X6 XM_047436716.1:c.*27_*31= XM_047436716.1:c.*31del
CARD14 transcript variant X8 XM_047436718.1:c.*27_*31= XM_047436718.1:c.*31del
SGSH transcript variant X2 XM_005257583.1:c.950-687= XM_005257583.1:c.950-687del
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#.

5 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1712160725 Apr 01, 2015 (144)
2 GNOMAD ss2749889009 Nov 08, 2017 (151)
3 GNOMAD ss2952925588 Nov 08, 2017 (151)
4 TOPMED ss5045204462 Apr 26, 2021 (155)
5 EVA ss5914998689 Oct 16, 2022 (156)
6 ExAC NC_000017.10 - 78182171 Oct 12, 2018 (152)
7 gnomAD - Genomes NC_000017.11 - 80208372 Apr 26, 2021 (155)
8 gnomAD - Exomes NC_000017.10 - 78182171 Jul 13, 2019 (153)
9 TopMed NC_000017.11 - 80208372 Apr 26, 2021 (155)
10 ALFA NC_000017.11 - 80208372 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
3475979, 12394096, ss1712160725, ss2749889009, ss2952925588 NC_000017.10:78182170:G: NC_000017.11:80208371:GGGGG:GGGG (self)
515047703, 260750124, ss5045204462, ss5914998689 NC_000017.11:80208371:G: NC_000017.11:80208371:GGGGG:GGGG (self)
2498110021 NC_000017.11:80208371:GGGGG:GGGG NC_000017.11:80208371:GGGGG:GGGG (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 rs752020063

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