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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.

rs1471754142

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:37929361 (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=0.000051 (8/155568, GnomAD_exome)
T=0.000007 (1/140252, GnomAD)
G=0.00003 (1/32062, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RMDN2 : Missense 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 32062 C=0.99997 G=0.00003, T=0.00000 0.999938 0.0 6.2e-05 0
European Sub 23860 C=0.99996 G=0.00004, T=0.00000 0.999916 0.0 0.000084 0
African Sub 2314 C=1.0000 G=0.0000, T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 84 C=1.00 G=0.00, T=0.00 1.0 0.0 0.0 N/A
African American Sub 2230 C=1.0000 G=0.0000, T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 C=1.000 G=0.000, T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 C=1.00 G=0.00, T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 C=1.00 G=0.00, T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 500 C=1.000 G=0.000, T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 628 C=1.000 G=0.000, T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 C=1.00 G=0.00, T=0.00 1.0 0.0 0.0 N/A
Other Sub 4558 C=1.0000 G=0.0000, T=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 - Exomes Global Study-wide 155568 C=0.999949 T=0.000051
gnomAD - Exomes European Sub 76056 C=1.00000 T=0.00000
gnomAD - Exomes Asian Sub 33674 C=1.00000 T=0.00000
gnomAD - Exomes American Sub 24712 C=0.99968 T=0.00032
gnomAD - Exomes Ashkenazi Jewish Sub 8516 C=1.0000 T=0.0000
gnomAD - Exomes African Sub 8148 C=1.0000 T=0.0000
gnomAD - Exomes Other Sub 4462 C=1.0000 T=0.0000
gnomAD - Genomes Global Study-wide 140252 C=0.999993 T=0.000007
gnomAD - Genomes European Sub 75946 C=1.00000 T=0.00000
gnomAD - Genomes African Sub 42034 C=1.00000 T=0.00000
gnomAD - Genomes American Sub 13662 C=0.99993 T=0.00007
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3132 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2154 C=1.0000 T=0.0000
Allele Frequency Aggregator Total Global 32062 C=0.99997 G=0.00003, T=0.00000
Allele Frequency Aggregator European Sub 23860 C=0.99996 G=0.00004, T=0.00000
Allele Frequency Aggregator Other Sub 4558 C=1.0000 G=0.0000, T=0.0000
Allele Frequency Aggregator African Sub 2314 C=1.0000 G=0.0000, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 628 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 500 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 108 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 94 C=1.00 G=0.00, 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 2 NC_000002.12:g.37929361C>G
GRCh38.p14 chr 2 NC_000002.12:g.37929361C>T
GRCh37.p13 chr 2 NC_000002.11:g.38156504C>G
GRCh37.p13 chr 2 NC_000002.11:g.38156504C>T
Gene: RMDN2, regulator of microtubule dynamics 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RMDN2 transcript variant 4 NM_001170793.3:c. N/A Genic Upstream Transcript Variant
RMDN2 transcript variant 1 NM_144713.5:c. N/A Genic Upstream Transcript Variant
RMDN2 transcript variant 2 NM_001170791.3:c.84C>G H [CAC] > Q [CAG] Coding Sequence Variant
regulator of microtubule dynamics protein 2 isoform 2 NP_001164262.1:p.His28Gln H (His) > Q (Gln) Missense Variant
RMDN2 transcript variant 2 NM_001170791.3:c.84C>T H [CAC] > H [CAT] Coding Sequence Variant
regulator of microtubule dynamics protein 2 isoform 2 NP_001164262.1:p.His28= H (His) > H (His) Synonymous Variant
RMDN2 transcript variant 6 NM_001322212.2:c.84C>G H [CAC] > Q [CAG] Coding Sequence Variant
regulator of microtubule dynamics protein 2 isoform 4 NP_001309141.1:p.His28Gln H (His) > Q (Gln) Missense Variant
RMDN2 transcript variant 6 NM_001322212.2:c.84C>T H [CAC] > H [CAT] Coding Sequence Variant
regulator of microtubule dynamics protein 2 isoform 4 NP_001309141.1:p.His28= H (His) > H (His) Synonymous Variant
RMDN2 transcript variant 5 NM_001322211.2:c.84C>G H [CAC] > Q [CAG] Coding Sequence Variant
regulator of microtubule dynamics protein 2 isoform 2 NP_001309140.1:p.His28Gln H (His) > Q (Gln) Missense Variant
RMDN2 transcript variant 5 NM_001322211.2:c.84C>T H [CAC] > H [CAT] Coding Sequence Variant
regulator of microtubule dynamics protein 2 isoform 2 NP_001309140.1:p.His28= H (His) > H (His) Synonymous Variant
RMDN2 transcript variant 3 NM_001170792.3:c.84C>G H [CAC] > Q [CAG] Coding Sequence Variant
regulator of microtubule dynamics protein 2 isoform 2 NP_001164263.1:p.His28Gln H (His) > Q (Gln) Missense Variant
RMDN2 transcript variant 3 NM_001170792.3:c.84C>T H [CAC] > H [CAT] Coding Sequence Variant
regulator of microtubule dynamics protein 2 isoform 2 NP_001164263.1:p.His28= H (His) > H (His) Synonymous Variant
RMDN2 transcript variant X1 XM_011532614.4:c. N/A Genic Upstream Transcript Variant
RMDN2 transcript variant X2 XM_011532615.4:c. N/A Genic Upstream Transcript Variant
RMDN2 transcript variant X3 XM_017003474.2:c. N/A Genic Upstream Transcript Variant
RMDN2 transcript variant X11 XM_047443520.1:c. N/A Genic Upstream Transcript Variant
RMDN2 transcript variant X12 XM_047443521.1:c. N/A Genic Upstream Transcript Variant
RMDN2 transcript variant X5 XM_011532616.3:c.84C>G H [CAC] > Q [CAG] Coding Sequence Variant
regulator of microtubule dynamics protein 2 isoform X4 XP_011530918.1:p.His28Gln H (His) > Q (Gln) Missense Variant
RMDN2 transcript variant X5 XM_011532616.3:c.84C>T H [CAC] > H [CAT] Coding Sequence Variant
regulator of microtubule dynamics protein 2 isoform X4 XP_011530918.1:p.His28= H (His) > H (His) Synonymous Variant
RMDN2 transcript variant X6 XM_017003476.3:c.84C>G H [CAC] > Q [CAG] Coding Sequence Variant
regulator of microtubule dynamics protein 2 isoform X5 XP_016858965.1:p.His28Gln H (His) > Q (Gln) Missense Variant
RMDN2 transcript variant X6 XM_017003476.3:c.84C>T H [CAC] > H [CAT] Coding Sequence Variant
regulator of microtubule dynamics protein 2 isoform X5 XP_016858965.1:p.His28= H (His) > H (His) Synonymous Variant
RMDN2 transcript variant X7 XM_017003477.3:c.84C>G H [CAC] > Q [CAG] Coding Sequence Variant
regulator of microtubule dynamics protein 2 isoform X5 XP_016858966.1:p.His28Gln H (His) > Q (Gln) Missense Variant
RMDN2 transcript variant X7 XM_017003477.3:c.84C>T H [CAC] > H [CAT] Coding Sequence Variant
regulator of microtubule dynamics protein 2 isoform X5 XP_016858966.1:p.His28= H (His) > H (His) Synonymous Variant
RMDN2 transcript variant X8 XM_017003478.2:c.84C>G H [CAC] > Q [CAG] Coding Sequence Variant
regulator of microtubule dynamics protein 2 isoform X6 XP_016858967.1:p.His28Gln H (His) > Q (Gln) Missense Variant
RMDN2 transcript variant X8 XM_017003478.2:c.84C>T H [CAC] > H [CAT] Coding Sequence Variant
regulator of microtubule dynamics protein 2 isoform X6 XP_016858967.1:p.His28= H (His) > H (His) Synonymous Variant
RMDN2 transcript variant X9 XM_047443518.1:c.84C>G H [CAC] > Q [CAG] Coding Sequence Variant
regulator of microtubule dynamics protein 2 isoform X7 XP_047299474.1:p.His28Gln H (His) > Q (Gln) Missense Variant
RMDN2 transcript variant X9 XM_047443518.1:c.84C>T H [CAC] > H [CAT] Coding Sequence Variant
regulator of microtubule dynamics protein 2 isoform X7 XP_047299474.1:p.His28= H (His) > H (His) Synonymous Variant
RMDN2 transcript variant X10 XM_047443519.1:c.84C>G H [CAC] > Q [CAG] Coding Sequence Variant
regulator of microtubule dynamics protein 2 isoform X8 XP_047299475.1:p.His28Gln H (His) > Q (Gln) Missense Variant
RMDN2 transcript variant X10 XM_047443519.1:c.84C>T H [CAC] > H [CAT] Coding Sequence Variant
regulator of microtubule dynamics protein 2 isoform X8 XP_047299475.1:p.His28= H (His) > H (His) Synonymous Variant
RMDN2 transcript variant X4 XR_939668.4: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 C= G T
GRCh38.p14 chr 2 NC_000002.12:g.37929361= NC_000002.12:g.37929361C>G NC_000002.12:g.37929361C>T
GRCh37.p13 chr 2 NC_000002.11:g.38156504= NC_000002.11:g.38156504C>G NC_000002.11:g.38156504C>T
RMDN2 transcript variant 3 NM_001170792.3:c.84= NM_001170792.3:c.84C>G NM_001170792.3:c.84C>T
RMDN2 transcript variant 3 NM_001170792.2:c.84= NM_001170792.2:c.84C>G NM_001170792.2:c.84C>T
RMDN2 transcript variant 2 NM_001170792.1:c.84= NM_001170792.1:c.84C>G NM_001170792.1:c.84C>T
RMDN2 transcript variant 2 NM_001170791.3:c.84= NM_001170791.3:c.84C>G NM_001170791.3:c.84C>T
RMDN2 transcript variant 2 NM_001170791.2:c.84= NM_001170791.2:c.84C>G NM_001170791.2:c.84C>T
RMDN2 transcript variant 3 NM_001170791.1:c.84= NM_001170791.1:c.84C>G NM_001170791.1:c.84C>T
RMDN2 transcript variant X5 XM_011532616.3:c.84= XM_011532616.3:c.84C>G XM_011532616.3:c.84C>T
RMDN2 transcript variant X7 XM_011532616.2:c.84= XM_011532616.2:c.84C>G XM_011532616.2:c.84C>T
RMDN2 transcript variant X5 XM_011532616.1:c.84= XM_011532616.1:c.84C>G XM_011532616.1:c.84C>T
RMDN2 transcript variant X7 XM_017003477.3:c.84= XM_017003477.3:c.84C>G XM_017003477.3:c.84C>T
RMDN2 transcript variant X12 XM_017003477.2:c.84= XM_017003477.2:c.84C>G XM_017003477.2:c.84C>T
RMDN2 transcript variant X12 XM_017003477.1:c.84= XM_017003477.1:c.84C>G XM_017003477.1:c.84C>T
RMDN2 transcript variant X6 XM_017003476.3:c.84= XM_017003476.3:c.84C>G XM_017003476.3:c.84C>T
RMDN2 transcript variant X11 XM_017003476.2:c.84= XM_017003476.2:c.84C>G XM_017003476.2:c.84C>T
RMDN2 transcript variant X11 XM_017003476.1:c.84= XM_017003476.1:c.84C>G XM_017003476.1:c.84C>T
RMDN2 transcript variant 5 NM_001322211.2:c.84= NM_001322211.2:c.84C>G NM_001322211.2:c.84C>T
RMDN2 transcript variant 5 NM_001322211.1:c.84= NM_001322211.1:c.84C>G NM_001322211.1:c.84C>T
RMDN2 transcript variant X8 XM_017003478.2:c.84= XM_017003478.2:c.84C>G XM_017003478.2:c.84C>T
RMDN2 transcript variant X13 XM_017003478.1:c.84= XM_017003478.1:c.84C>G XM_017003478.1:c.84C>T
RMDN2 transcript variant 6 NM_001322212.2:c.84= NM_001322212.2:c.84C>G NM_001322212.2:c.84C>T
RMDN2 transcript variant 6 NM_001322212.1:c.84= NM_001322212.1:c.84C>G NM_001322212.1:c.84C>T
RMDN2 transcript variant X9 XM_047443518.1:c.84= XM_047443518.1:c.84C>G XM_047443518.1:c.84C>T
RMDN2 transcript variant X10 XM_047443519.1:c.84= XM_047443519.1:c.84C>G XM_047443519.1:c.84C>T
regulator of microtubule dynamics protein 2 isoform 2 NP_001164263.1:p.His28= NP_001164263.1:p.His28Gln NP_001164263.1:p.His28=
regulator of microtubule dynamics protein 2 isoform 2 NP_001164262.1:p.His28= NP_001164262.1:p.His28Gln NP_001164262.1:p.His28=
regulator of microtubule dynamics protein 2 isoform X4 XP_011530918.1:p.His28= XP_011530918.1:p.His28Gln XP_011530918.1:p.His28=
regulator of microtubule dynamics protein 2 isoform X5 XP_016858966.1:p.His28= XP_016858966.1:p.His28Gln XP_016858966.1:p.His28=
regulator of microtubule dynamics protein 2 isoform X5 XP_016858965.1:p.His28= XP_016858965.1:p.His28Gln XP_016858965.1:p.His28=
regulator of microtubule dynamics protein 2 isoform 2 NP_001309140.1:p.His28= NP_001309140.1:p.His28Gln NP_001309140.1:p.His28=
regulator of microtubule dynamics protein 2 isoform X6 XP_016858967.1:p.His28= XP_016858967.1:p.His28Gln XP_016858967.1:p.His28=
regulator of microtubule dynamics protein 2 isoform 4 NP_001309141.1:p.His28= NP_001309141.1:p.His28Gln NP_001309141.1:p.His28=
regulator of microtubule dynamics protein 2 isoform X7 XP_047299474.1:p.His28= XP_047299474.1:p.His28Gln XP_047299474.1:p.His28=
regulator of microtubule dynamics protein 2 isoform X8 XP_047299475.1:p.His28= XP_047299475.1:p.His28Gln XP_047299475.1:p.His28=
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 GNOMAD ss2732608030 Nov 08, 2017 (151)
2 VINODS ss4019684262 Apr 26, 2021 (155)
3 GNOMAD ss4039042435 Apr 26, 2021 (155)
4 TOPMED ss4501210104 Apr 26, 2021 (155)
5 TOPMED ss4501210105 Apr 26, 2021 (155)
6 gnomAD - Genomes NC_000002.12 - 37929361 Apr 26, 2021 (155)
7 gnomAD - Exomes NC_000002.11 - 38156504 Jul 13, 2019 (153)
8 TopMed

Submission ignored due to conflicting rows:
Row 305032983 (NC_000002.12:37929360:C:G 4/264690)
Row 305032984 (NC_000002.12:37929360:C:T 3/264690)

- Apr 26, 2021 (155)
9 TopMed

Submission ignored due to conflicting rows:
Row 305032983 (NC_000002.12:37929360:C:G 4/264690)
Row 305032984 (NC_000002.12:37929360:C:T 3/264690)

- Apr 26, 2021 (155)
10 ALFA NC_000002.12 - 37929361 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
1898163830, ss4019684262, ss4501210104 NC_000002.12:37929360:C:G NC_000002.12:37929360:C:G (self)
1654000, ss2732608030 NC_000002.11:38156503:C:T NC_000002.12:37929360:C:T (self)
54350244, 1898163830, ss4039042435, ss4501210105 NC_000002.12:37929360:C:T NC_000002.12:37929360: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 rs1471754142

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