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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.

rs1327922092

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:65093715 (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
C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000008 (2/264690, TOPMED)
T=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MAX : Missense Variant
LOC100506321 : Non Coding Transcript 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 14050 C=1.00000 T=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 C=1.000 T=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 C=1.000 T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Sub 496 C=1.000 T=0.000 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
TopMed Global Study-wide 264690 C=0.999992 T=0.000008
Allele Frequency Aggregator Total Global 14050 C=1.00000 T=0.00000
Allele Frequency Aggregator European Sub 9690 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2898 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 T=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 14 NC_000014.9:g.65093715C>G
GRCh38.p14 chr 14 NC_000014.9:g.65093715C>T
GRCh37.p13 chr 14 NC_000014.8:g.65560433C>G
GRCh37.p13 chr 14 NC_000014.8:g.65560433C>T
MAX RefSeqGene (LRG_530) NG_029830.1:g.13795G>C
MAX RefSeqGene (LRG_530) NG_029830.1:g.13795G>A
Gene: MAX, MYC associated factor X (minus strand)
Molecule type Change Amino acid[Codon] SO Term
MAX transcript variant 11 NM_001320415.2:c.-111= N/A 5 Prime UTR Variant
MAX transcript variant 1 NM_002382.5:c.164G>C G [GGA] > A [GCA] Coding Sequence Variant
protein max isoform a NP_002373.3:p.Gly55Ala G (Gly) > A (Ala) Missense Variant
MAX transcript variant 1 NM_002382.5:c.164G>A G [GGA] > E [GAA] Coding Sequence Variant
protein max isoform a NP_002373.3:p.Gly55Glu G (Gly) > E (Glu) Missense Variant
MAX transcript variant 3 NM_145113.3:c.164G>C G [GGA] > A [GCA] Coding Sequence Variant
protein max isoform c NP_660088.1:p.Gly55Ala G (Gly) > A (Ala) Missense Variant
MAX transcript variant 3 NM_145113.3:c.164G>A G [GGA] > E [GAA] Coding Sequence Variant
protein max isoform c NP_660088.1:p.Gly55Glu G (Gly) > E (Glu) Missense Variant
MAX transcript variant 2 NM_145112.3:c.137G>C G [GGA] > A [GCA] Coding Sequence Variant
protein max isoform b NP_660087.1:p.Gly46Ala G (Gly) > A (Ala) Missense Variant
MAX transcript variant 2 NM_145112.3:c.137G>A G [GGA] > E [GAA] Coding Sequence Variant
protein max isoform b NP_660087.1:p.Gly46Glu G (Gly) > E (Glu) Missense Variant
MAX transcript variant 8 NM_001271069.2:c.137G>C G [GGA] > A [GCA] Coding Sequence Variant
protein max isoform h NP_001257998.1:p.Gly46Ala G (Gly) > A (Ala) Missense Variant
MAX transcript variant 8 NM_001271069.2:c.137G>A G [GGA] > E [GAA] Coding Sequence Variant
protein max isoform h NP_001257998.1:p.Gly46Glu G (Gly) > E (Glu) Missense Variant
MAX transcript variant 7 NM_001271068.2:c.137G>C G [GGA] > A [GCA] Coding Sequence Variant
protein max isoform g NP_001257997.1:p.Gly46Ala G (Gly) > A (Ala) Missense Variant
MAX transcript variant 7 NM_001271068.2:c.137G>A G [GGA] > E [GAA] Coding Sequence Variant
protein max isoform g NP_001257997.1:p.Gly46Glu G (Gly) > E (Glu) Missense Variant
MAX transcript variant 6 NM_197957.4:c.164G>C G [GGA] > A [GCA] Coding Sequence Variant
protein max isoform f NP_932061.1:p.Gly55Ala G (Gly) > A (Ala) Missense Variant
MAX transcript variant 6 NM_197957.4:c.164G>A G [GGA] > E [GAA] Coding Sequence Variant
protein max isoform f NP_932061.1:p.Gly55Glu G (Gly) > E (Glu) Missense Variant
MAX transcript variant 4 NM_145114.3:c.164G>C G [GGA] > A [GCA] Coding Sequence Variant
protein max isoform d NP_660089.1:p.Gly55Ala G (Gly) > A (Ala) Missense Variant
MAX transcript variant 4 NM_145114.3:c.164G>A G [GGA] > E [GAA] Coding Sequence Variant
protein max isoform d NP_660089.1:p.Gly55Glu G (Gly) > E (Glu) Missense Variant
MAX transcript variant 9 NR_073137.1:n.288G>C N/A Non Coding Transcript Variant
MAX transcript variant 9 NR_073137.1:n.288G>A N/A Non Coding Transcript Variant
MAX transcript variant 10 NR_073138.1:n.288G>C N/A Non Coding Transcript Variant
MAX transcript variant 10 NR_073138.1:n.288G>A N/A Non Coding Transcript Variant
MAX transcript variant X1 XM_011536773.4:c.164G>C G [GGA] > A [GCA] Coding Sequence Variant
protein max isoform X1 XP_011535075.1:p.Gly55Ala G (Gly) > A (Ala) Missense Variant
MAX transcript variant X1 XM_011536773.4:c.164G>A G [GGA] > E [GAA] Coding Sequence Variant
protein max isoform X1 XP_011535075.1:p.Gly55Glu G (Gly) > E (Glu) Missense Variant
MAX transcript variant X2 XR_943450.4:n.342G>C N/A Non Coding Transcript Variant
MAX transcript variant X2 XR_943450.4:n.342G>A N/A Non Coding Transcript Variant
MAX transcript variant X3 XR_943452.4:n.315G>C N/A Non Coding Transcript Variant
MAX transcript variant X3 XR_943452.4:n.315G>A N/A Non Coding Transcript Variant
MAX transcript variant X4 XR_007064012.1:n.315G>C N/A Non Coding Transcript Variant
MAX transcript variant X4 XR_007064012.1:n.315G>A N/A Non Coding Transcript Variant
Gene: LOC100506321, uncharacterized LOC100506321 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC100506321 transcript NR_045122.1:n.299C>G N/A Non Coding Transcript Variant
LOC100506321 transcript NR_045122.1:n.299C>T 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 C= G T
GRCh38.p14 chr 14 NC_000014.9:g.65093715= NC_000014.9:g.65093715C>G NC_000014.9:g.65093715C>T
GRCh37.p13 chr 14 NC_000014.8:g.65560433= NC_000014.8:g.65560433C>G NC_000014.8:g.65560433C>T
MAX RefSeqGene (LRG_530) NG_029830.1:g.13795= NG_029830.1:g.13795G>C NG_029830.1:g.13795G>A
MAX transcript variant 1 NM_002382.5:c.164= NM_002382.5:c.164G>C NM_002382.5:c.164G>A
MAX transcript variant 1 NM_002382.4:c.164= NM_002382.4:c.164G>C NM_002382.4:c.164G>A
MAX transcript variant 6 NM_197957.4:c.164= NM_197957.4:c.164G>C NM_197957.4:c.164G>A
MAX transcript variant 6 NM_197957.3:c.164= NM_197957.3:c.164G>C NM_197957.3:c.164G>A
MAX transcript variant 3 NM_145113.3:c.164= NM_145113.3:c.164G>C NM_145113.3:c.164G>A
MAX transcript variant 3 NM_145113.2:c.164= NM_145113.2:c.164G>C NM_145113.2:c.164G>A
MAX transcript variant 2 NM_145112.3:c.137= NM_145112.3:c.137G>C NM_145112.3:c.137G>A
MAX transcript variant 2 NM_145112.2:c.137= NM_145112.2:c.137G>C NM_145112.2:c.137G>A
MAX transcript variant 4 NM_145114.3:c.164= NM_145114.3:c.164G>C NM_145114.3:c.164G>A
MAX transcript variant 4 NM_145114.2:c.164= NM_145114.2:c.164G>C NM_145114.2:c.164G>A
MAX transcript variant 11 NM_001320415.2:c.-111= NM_001320415.2:c.-111G>C NM_001320415.2:c.-111G>A
MAX transcript variant 11 NM_001320415.1:c.-111= NM_001320415.1:c.-111G>C NM_001320415.1:c.-111G>A
MAX transcript variant 9 NR_073137.2:n.288= NR_073137.2:n.288G>C NR_073137.2:n.288G>A
MAX transcript variant 9 NR_073137.1:n.288= NR_073137.1:n.288G>C NR_073137.1:n.288G>A
MAX transcript variant 7 NM_001271068.2:c.137= NM_001271068.2:c.137G>C NM_001271068.2:c.137G>A
MAX transcript variant 7 NM_001271068.1:c.137= NM_001271068.1:c.137G>C NM_001271068.1:c.137G>A
MAX transcript variant 10 NR_073138.2:n.110= NR_073138.2:n.110G>C NR_073138.2:n.110G>A
MAX transcript variant 10 NR_073138.1:n.288= NR_073138.1:n.288G>C NR_073138.1:n.288G>A
MAX transcript variant 8 NM_001271069.2:c.137= NM_001271069.2:c.137G>C NM_001271069.2:c.137G>A
MAX transcript variant 8 NM_001271069.1:c.137= NM_001271069.1:c.137G>C NM_001271069.1:c.137G>A
MAX transcript variant 15 NM_001407097.1:c.164= NM_001407097.1:c.164G>C NM_001407097.1:c.164G>A
MAX transcript variant 14 NM_001407096.1:c.164= NM_001407096.1:c.164G>C NM_001407096.1:c.164G>A
MAX transcript variant 18 NM_001407100.1:c.137= NM_001407100.1:c.137G>C NM_001407100.1:c.137G>A
MAX transcript variant 39 NR_176281.1:n.306= NR_176281.1:n.306G>C NR_176281.1:n.306G>A
MAX transcript variant 17 NM_001407099.1:c.137= NM_001407099.1:c.137G>C NM_001407099.1:c.137G>A
MAX transcript variant 29 NM_001407111.1:c.-204= NM_001407111.1:c.-204G>C NM_001407111.1:c.-204G>A
MAX transcript variant 27 NM_001407109.1:c.137= NM_001407109.1:c.137G>C NM_001407109.1:c.137G>A
MAX transcript variant 33 NR_176275.1:n.306= NR_176275.1:n.306G>C NR_176275.1:n.306G>A
MAX transcript variant 26 NM_001407108.1:c.137= NM_001407108.1:c.137G>C NM_001407108.1:c.137G>A
MAX transcript variant 23 NM_001407105.1:c.-111= NM_001407105.1:c.-111G>C NM_001407105.1:c.-111G>A
MAX transcript variant 19 NM_001407101.1:c.137= NM_001407101.1:c.137G>C NM_001407101.1:c.137G>A
MAX transcript variant 37 NR_176279.1:n.240= NR_176279.1:n.240G>C NR_176279.1:n.240G>A
MAX transcript variant 20 NM_001407102.1:c.137= NM_001407102.1:c.137G>C NM_001407102.1:c.137G>A
MAX transcript variant 38 NR_176280.1:n.306= NR_176280.1:n.306G>C NR_176280.1:n.306G>A
MAX transcript variant 21 NM_001407103.1:c.164= NM_001407103.1:c.164G>C NM_001407103.1:c.164G>A
MAX transcript variant 22 NM_001407104.1:c.164= NM_001407104.1:c.164G>C NM_001407104.1:c.164G>A
MAX transcript variant 30 NM_001407112.1:c.-204= NM_001407112.1:c.-204G>C NM_001407112.1:c.-204G>A
MAX transcript variant 28 NM_001407110.1:c.137= NM_001407110.1:c.137G>C NM_001407110.1:c.137G>A
MAX transcript variant 25 NM_001407107.1:c.-111= NM_001407107.1:c.-111G>C NM_001407107.1:c.-111G>A
MAX transcript variant 24 NM_001407106.1:c.-111= NM_001407106.1:c.-111G>C NM_001407106.1:c.-111G>A
MAX transcript variant 40 NR_176282.1:n.110= NR_176282.1:n.110G>C NR_176282.1:n.110G>A
MAX transcript variant 12 NM_001407094.1:c.164= NM_001407094.1:c.164G>C NM_001407094.1:c.164G>A
MAX transcript variant 13 NM_001407095.1:c.137= NM_001407095.1:c.137G>C NM_001407095.1:c.137G>A
MAX transcript variant 36 NR_176278.1:n.137= NR_176278.1:n.137G>C NR_176278.1:n.137G>A
MAX transcript variant 34 NR_176276.1:n.306= NR_176276.1:n.306G>C NR_176276.1:n.306G>A
MAX transcript variant 35 NR_176277.1:n.279= NR_176277.1:n.279G>C NR_176277.1:n.279G>A
MAX transcript variant 32 NM_001407114.1:c.187= NM_001407114.1:c.187G>C NM_001407114.1:c.187G>A
MAX transcript variant 31 NM_001407113.1:c.137= NM_001407113.1:c.137G>C NM_001407113.1:c.137G>A
MAX transcript variant 41 NR_176283.1:n.137= NR_176283.1:n.137G>C NR_176283.1:n.137G>A
MAX transcript variant X2 XR_943450.4:n.342= XR_943450.4:n.342G>C XR_943450.4:n.342G>A
MAX transcript variant X3 XR_943452.4:n.315= XR_943452.4:n.315G>C XR_943452.4:n.315G>A
MAX transcript variant X1 XM_011536773.4:c.164= XM_011536773.4:c.164G>C XM_011536773.4:c.164G>A
MAX transcript variant X1 XM_011536773.3:c.164= XM_011536773.3:c.164G>C XM_011536773.3:c.164G>A
MAX transcript variant X1 XM_011536773.2:c.164= XM_011536773.2:c.164G>C XM_011536773.2:c.164G>A
MAX transcript variant X1 XM_011536773.1:c.164= XM_011536773.1:c.164G>C XM_011536773.1:c.164G>A
MAX transcript variant X4 XR_007064012.1:n.315= XR_007064012.1:n.315G>C XR_007064012.1:n.315G>A
LOC100506321 transcript NR_045122.1:n.299= NR_045122.1:n.299C>G NR_045122.1:n.299C>T
MAX transcript variant 5 NM_145116.1:c.164= NM_145116.1:c.164G>C NM_145116.1:c.164G>A
protein max isoform a NP_002373.3:p.Gly55= NP_002373.3:p.Gly55Ala NP_002373.3:p.Gly55Glu
protein max isoform f NP_932061.1:p.Gly55= NP_932061.1:p.Gly55Ala NP_932061.1:p.Gly55Glu
protein max isoform c NP_660088.1:p.Gly55= NP_660088.1:p.Gly55Ala NP_660088.1:p.Gly55Glu
protein max isoform b NP_660087.1:p.Gly46= NP_660087.1:p.Gly46Ala NP_660087.1:p.Gly46Glu
protein max isoform d NP_660089.1:p.Gly55= NP_660089.1:p.Gly55Ala NP_660089.1:p.Gly55Glu
protein max isoform g NP_001257997.1:p.Gly46= NP_001257997.1:p.Gly46Ala NP_001257997.1:p.Gly46Glu
protein max isoform h NP_001257998.1:p.Gly46= NP_001257998.1:p.Gly46Ala NP_001257998.1:p.Gly46Glu
protein max isoform X1 XP_011535075.1:p.Gly55= XP_011535075.1:p.Gly55Ala XP_011535075.1:p.Gly55Glu
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#.

3 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 TOPMED ss4973902374 Apr 27, 2021 (155)
2 EVA ss5936199590 Oct 16, 2022 (156)
3 EVA ss5936199591 Oct 16, 2022 (156)
4 TopMed NC_000014.9 - 65093715 Apr 27, 2021 (155)
5 ALFA NC_000014.9 - 65093715 Apr 27, 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
ss5936199590 NC_000014.8:65560432:C:G NC_000014.9:65093714:C:G
ss5936199590, ss5936199591 NC_000014.8:65560432:C:T NC_000014.9:65093714:C:T
189448033, 11804483205, ss4973902374 NC_000014.9:65093714:C:T NC_000014.9:65093714:C:T (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 rs1327922092

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