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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.

rs1483443946

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:17014366 (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=0.000007 (1/138776, GnomAD)
G=0.00003 (1/35346, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PLEKHA7 : Synonymous 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 35346 A=0.99997 G=0.00003 0.999943 0.0 5.7e-05 0
European Sub 26512 A=0.99996 G=0.00004 0.999925 0.0 0.000075 0
African Sub 2918 A=1.0000 G=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 A=1.000 G=0.000 1.0 0.0 0.0 N/A
African American Sub 2804 A=1.0000 G=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 A=1.000 G=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 A=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 A=1.00 G=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 500 A=1.000 G=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 628 A=1.000 G=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 A=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Sub 4578 A=1.0000 G=0.0000 1.0 0.0 0.0 N/A


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
gnomAD - Genomes Global Study-wide 138776 A=0.999993 G=0.000007
gnomAD - Genomes European Sub 74926 A=0.99999 G=0.00001
gnomAD - Genomes African Sub 41762 A=1.00000 G=0.00000
gnomAD - Genomes American Sub 13546 A=1.00000 G=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3312 A=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3102 A=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2128 A=1.0000 G=0.0000
Allele Frequency Aggregator Total Global 35346 A=0.99997 G=0.00003
Allele Frequency Aggregator European Sub 26512 A=0.99996 G=0.00004
Allele Frequency Aggregator Other Sub 4578 A=1.0000 G=0.0000
Allele Frequency Aggregator African Sub 2918 A=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 628 A=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 500 A=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 112 A=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 98 A=1.00 G=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 11 NC_000011.10:g.17014366A>G
GRCh37.p13 chr 11 NC_000011.9:g.17035913A>G
Gene: PLEKHA7, pleckstrin homology domain containing A7 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PLEKHA7 transcript variant 1 NM_001329630.2:c.36T>C P [CCT] > P [CCC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform 1 NP_001316559.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
PLEKHA7 transcript variant 2 NM_175058.5:c.36T>C P [CCT] > P [CCC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform 2 NP_778228.3:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
PLEKHA7 transcript variant 3 NM_001329631.2:c.36T>C P [CCT] > P [CCC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform 3 NP_001316560.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
PLEKHA7 transcript variant X11 XM_024448361.2:c. N/A Genic Upstream Transcript Variant
PLEKHA7 transcript variant X12 XM_024448362.2:c. N/A Genic Upstream Transcript Variant
PLEKHA7 transcript variant X15 XM_024448365.2:c. N/A Genic Upstream Transcript Variant
PLEKHA7 transcript variant X18 XM_024448366.2:c. N/A Genic Upstream Transcript Variant
PLEKHA7 transcript variant X19 XM_024448367.2:c. N/A Genic Upstream Transcript Variant
PLEKHA7 transcript variant X20 XM_024448369.2:c. N/A Genic Upstream Transcript Variant
PLEKHA7 transcript variant X10 XM_047426433.1:c. N/A Genic Upstream Transcript Variant
PLEKHA7 transcript variant X14 XM_047426434.1:c. N/A Genic Upstream Transcript Variant
PLEKHA7 transcript variant X16 XM_047426435.1:c. N/A Genic Upstream Transcript Variant
PLEKHA7 transcript variant X21 XM_047426437.1:c. N/A Genic Upstream Transcript Variant
PLEKHA7 transcript variant X25 XM_047426439.1:c. N/A Genic Upstream Transcript Variant
PLEKHA7 transcript variant X29 XM_047426442.1:c. N/A Genic Upstream Transcript Variant
PLEKHA7 transcript variant X30 XM_047426443.1:c. N/A Genic Upstream Transcript Variant
PLEKHA7 transcript variant X32 XM_047426445.1:c. N/A Genic Upstream Transcript Variant
PLEKHA7 transcript variant X33 XM_047426446.1:c. N/A Genic Upstream Transcript Variant
PLEKHA7 transcript variant X34 XM_047426447.1:c. N/A Genic Upstream Transcript Variant
PLEKHA7 transcript variant X1 XM_047426426.1:c.36T>C P [CCT] > P [CCC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X1 XP_047282382.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
PLEKHA7 transcript variant X2 XM_024448357.2:c.36T>C P [CCT] > P [CCC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X2 XP_024304125.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
PLEKHA7 transcript variant X3 XM_024448358.2:c.36T>C P [CCT] > P [CCC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X3 XP_024304126.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
PLEKHA7 transcript variant X4 XM_047426427.1:c.36T>C P [CCT] > P [CCC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X4 XP_047282383.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
PLEKHA7 transcript variant X5 XM_047426428.1:c.36T>C P [CCT] > P [CCC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X5 XP_047282384.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
PLEKHA7 transcript variant X6 XM_047426429.1:c.36T>C P [CCT] > P [CCC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X6 XP_047282385.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
PLEKHA7 transcript variant X7 XM_047426430.1:c.36T>C P [CCT] > P [CCC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X7 XP_047282386.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
PLEKHA7 transcript variant X8 XM_047426431.1:c.36T>C P [CCT] > P [CCC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X8 XP_047282387.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
PLEKHA7 transcript variant X9 XM_047426432.1:c.36T>C P [CCT] > P [CCC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X9 XP_047282388.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
PLEKHA7 transcript variant X12 XM_024448364.2:c.36T>C P [CCT] > P [CCC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X12 XP_024304132.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
PLEKHA7 transcript variant X13 XM_024448370.2:c.36T>C P [CCT] > P [CCC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X13 XP_024304138.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
PLEKHA7 transcript variant X17 XM_047426436.1:c.36T>C P [CCT] > P [CCC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X17 XP_047282392.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
PLEKHA7 transcript variant X22 XM_047426438.1:c.36T>C P [CCT] > P [CCC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X20 XP_047282394.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
PLEKHA7 transcript variant X24 XM_017017241.3:c.36T>C P [CCT] > P [CCC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X21 XP_016872730.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
PLEKHA7 transcript variant X26 XM_047426440.1:c.36T>C P [CCT] > P [CCC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X23 XP_047282396.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
PLEKHA7 transcript variant X27 XM_047426441.1:c.36T>C P [CCT] > P [CCC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X24 XP_047282397.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
PLEKHA7 transcript variant X28 XM_017017242.3:c.36T>C P [CCT] > P [CCC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X25 XP_016872731.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
PLEKHA7 transcript variant X31 XM_047426444.1:c.36T>C P [CCT] > P [CCC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X28 XP_047282400.1:p.Pro12= P (Pro) > P (Pro) Synonymous Variant
PLEKHA7 transcript variant X23 XR_007062454.1:n.49T>C N/A Non Coding 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.17014366= NC_000011.10:g.17014366A>G
GRCh37.p13 chr 11 NC_000011.9:g.17035913= NC_000011.9:g.17035913A>G
PLEKHA7 transcript variant 2 NM_175058.5:c.36= NM_175058.5:c.36T>C
PLEKHA7 transcript variant 2 NM_175058.4:c.36= NM_175058.4:c.36T>C
PLEKHA7 transcript variant X24 XM_017017241.3:c.36= XM_017017241.3:c.36T>C
PLEKHA7 transcript variant X17 XM_017017241.2:c.36= XM_017017241.2:c.36T>C
PLEKHA7 transcript variant X2 XM_017017241.1:c.36= XM_017017241.1:c.36T>C
PLEKHA7 transcript variant X28 XM_017017242.3:c.36= XM_017017242.3:c.36T>C
PLEKHA7 transcript variant X18 XM_017017242.2:c.36= XM_017017242.2:c.36T>C
PLEKHA7 transcript variant X3 XM_017017242.1:c.36= XM_017017242.1:c.36T>C
PLEKHA7 transcript variant X3 XM_024448358.2:c.36= XM_024448358.2:c.36T>C
PLEKHA7 transcript variant X3 XM_024448358.1:c.36= XM_024448358.1:c.36T>C
PLEKHA7 transcript variant X12 XM_024448364.2:c.36= XM_024448364.2:c.36T>C
PLEKHA7 transcript variant 1 NM_001329630.2:c.36= NM_001329630.2:c.36T>C
PLEKHA7 transcript variant 1 NM_001329630.1:c.36= NM_001329630.1:c.36T>C
PLEKHA7 transcript variant 3 NM_001329631.2:c.36= NM_001329631.2:c.36T>C
PLEKHA7 transcript variant 3 NM_001329631.1:c.36= NM_001329631.1:c.36T>C
PLEKHA7 transcript variant X2 XM_024448357.2:c.36= XM_024448357.2:c.36T>C
PLEKHA7 transcript variant X2 XM_024448357.1:c.36= XM_024448357.1:c.36T>C
PLEKHA7 transcript variant X13 XM_024448370.2:c.36= XM_024448370.2:c.36T>C
PLEKHA7 transcript variant X15 XM_024448370.1:c.36= XM_024448370.1:c.36T>C
PLEKHA7 transcript variant X6 XM_047426429.1:c.36= XM_047426429.1:c.36T>C
PLEKHA7 transcript variant X7 XM_047426430.1:c.36= XM_047426430.1:c.36T>C
PLEKHA7 transcript variant 4 NM_001410960.1:c.36= NM_001410960.1:c.36T>C
PLEKHA7 transcript variant X17 XM_047426436.1:c.36= XM_047426436.1:c.36T>C
PLEKHA7 transcript variant X27 XM_047426441.1:c.36= XM_047426441.1:c.36T>C
PLEKHA7 transcript variant X26 XM_047426440.1:c.36= XM_047426440.1:c.36T>C
PLEKHA7 transcript variant X31 XM_047426444.1:c.36= XM_047426444.1:c.36T>C
PLEKHA7 transcript variant X22 XM_047426438.1:c.36= XM_047426438.1:c.36T>C
PLEKHA7 transcript variant X1 XM_047426426.1:c.36= XM_047426426.1:c.36T>C
PLEKHA7 transcript variant X4 XM_047426427.1:c.36= XM_047426427.1:c.36T>C
PLEKHA7 transcript variant X5 XM_047426428.1:c.36= XM_047426428.1:c.36T>C
PLEKHA7 transcript variant X8 XM_047426431.1:c.36= XM_047426431.1:c.36T>C
PLEKHA7 transcript variant X9 XM_047426432.1:c.36= XM_047426432.1:c.36T>C
PLEKHA7 transcript variant X23 XR_007062454.1:n.49= XR_007062454.1:n.49T>C
pleckstrin homology domain-containing family A member 7 isoform 2 NP_778228.3:p.Pro12= NP_778228.3:p.Pro12=
pleckstrin homology domain-containing family A member 7 isoform X21 XP_016872730.1:p.Pro12= XP_016872730.1:p.Pro12=
pleckstrin homology domain-containing family A member 7 isoform X25 XP_016872731.1:p.Pro12= XP_016872731.1:p.Pro12=
pleckstrin homology domain-containing family A member 7 isoform X3 XP_024304126.1:p.Pro12= XP_024304126.1:p.Pro12=
pleckstrin homology domain-containing family A member 7 isoform X12 XP_024304132.1:p.Pro12= XP_024304132.1:p.Pro12=
pleckstrin homology domain-containing family A member 7 isoform 1 NP_001316559.1:p.Pro12= NP_001316559.1:p.Pro12=
pleckstrin homology domain-containing family A member 7 isoform 3 NP_001316560.1:p.Pro12= NP_001316560.1:p.Pro12=
pleckstrin homology domain-containing family A member 7 isoform X2 XP_024304125.1:p.Pro12= XP_024304125.1:p.Pro12=
pleckstrin homology domain-containing family A member 7 isoform X13 XP_024304138.1:p.Pro12= XP_024304138.1:p.Pro12=
pleckstrin homology domain-containing family A member 7 isoform X6 XP_047282385.1:p.Pro12= XP_047282385.1:p.Pro12=
pleckstrin homology domain-containing family A member 7 isoform X7 XP_047282386.1:p.Pro12= XP_047282386.1:p.Pro12=
pleckstrin homology domain-containing family A member 7 isoform X17 XP_047282392.1:p.Pro12= XP_047282392.1:p.Pro12=
pleckstrin homology domain-containing family A member 7 isoform X24 XP_047282397.1:p.Pro12= XP_047282397.1:p.Pro12=
pleckstrin homology domain-containing family A member 7 isoform X23 XP_047282396.1:p.Pro12= XP_047282396.1:p.Pro12=
pleckstrin homology domain-containing family A member 7 isoform X28 XP_047282400.1:p.Pro12= XP_047282400.1:p.Pro12=
pleckstrin homology domain-containing family A member 7 isoform X20 XP_047282394.1:p.Pro12= XP_047282394.1:p.Pro12=
pleckstrin homology domain-containing family A member 7 isoform X1 XP_047282382.1:p.Pro12= XP_047282382.1:p.Pro12=
pleckstrin homology domain-containing family A member 7 isoform X4 XP_047282383.1:p.Pro12= XP_047282383.1:p.Pro12=
pleckstrin homology domain-containing family A member 7 isoform X5 XP_047282384.1:p.Pro12= XP_047282384.1:p.Pro12=
pleckstrin homology domain-containing family A member 7 isoform X8 XP_047282387.1:p.Pro12= XP_047282387.1:p.Pro12=
pleckstrin homology domain-containing family A member 7 isoform X9 XP_047282388.1:p.Pro12= XP_047282388.1:p.Pro12=
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#.

2 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2738827443 Nov 08, 2017 (151)
2 GNOMAD ss4230811846 Apr 26, 2021 (155)
3 gnomAD - Genomes NC_000011.10 - 17014366 Apr 26, 2021 (155)
4 ALFA NC_000011.10 - 17014366 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
ss2738827443 NC_000011.9:17035912:A:G NC_000011.10:17014365:A:G (self)
372573852, 3309519791, ss4230811846 NC_000011.10:17014365:A:G NC_000011.10:17014365: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 rs1483443946

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.post820+afb47a3d