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dbSNP Short Genetic Variations

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.

rs1487033477

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:225043103 (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=0.000008 (2/264690, TOPMED)
G=0.000014 (2/140144, GnomAD)
G=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
DNAH14 : 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 14050 A=1.00000 G=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 A=1.0000 G=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 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 2784 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 146 A=1.000 G=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 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 496 A=1.000 G=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 A=0.999992 G=0.000008
gnomAD - Genomes Global Study-wide 140144 A=0.999986 G=0.000014
gnomAD - Genomes European Sub 75922 A=1.00000 G=0.00000
gnomAD - Genomes African Sub 42008 A=0.99995 G=0.00005
gnomAD - Genomes American Sub 13622 A=1.00000 G=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3130 A=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2140 A=1.0000 G=0.0000
Allele Frequency Aggregator Total Global 14050 A=1.00000 G=0.00000
Allele Frequency Aggregator European Sub 9690 A=1.0000 G=0.0000
Allele Frequency Aggregator African Sub 2898 A=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 A=1.000 G=0.000
Allele Frequency Aggregator Other Sub 496 A=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 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 1 NC_000001.11:g.225043103A>G
GRCh37.p13 chr 1 NC_000001.10:g.225230805A>G
DNAH14 RefSeqGene NG_053088.1:g.119682A>G
Gene: DNAH14, dynein axonemal heavy chain 14 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
DNAH14 transcript variant 2 NM_001145154.3:c. N/A Genic Downstream Transcript Variant
DNAH14 transcript variant 4 NM_001349911.2:c. N/A Genic Downstream Transcript Variant
DNAH14 transcript variant 5 NM_001349912.2:c. N/A Genic Downstream Transcript Variant
DNAH14 transcript variant 6 NM_001367481.1:c. N/A Genic Downstream Transcript Variant
DNAH14 transcript variant 3 NM_144989.3:c. N/A Genic Downstream Transcript Variant
DNAH14 transcript variant 7 NM_001367479.1:c.1757A>G D [GAT] > G [GGT] Coding Sequence Variant
dynein axonemal heavy chain 14 isoform 7 NP_001354408.1:p.Asp586Gly D (Asp) > G (Gly) Missense Variant
DNAH14 transcript variant X16 XM_011544070.3:c.1489-641…

XM_011544070.3:c.1489-641A>G

N/A Intron Variant
DNAH14 transcript variant X18 XM_011544072.3:c.1107+355…

XM_011544072.3:c.1107+35559A>G

N/A Intron Variant
DNAH14 transcript variant X21 XM_011544074.3:c. N/A Genic Upstream Transcript Variant
DNAH14 transcript variant X22 XM_011544076.2:c. N/A Genic Upstream Transcript Variant
DNAH14 transcript variant X24 XM_011544081.2:c. N/A Genic Upstream Transcript Variant
DNAH14 transcript variant X23 XM_017000299.2:c. N/A Genic Upstream Transcript Variant
DNAH14 transcript variant X25 XM_047445671.1:c. N/A Genic Upstream Transcript Variant
DNAH14 transcript variant X1 XM_011544058.3:c.1757A>G D [GAT] > G [GGT] Coding Sequence Variant
dynein axonemal heavy chain 14 isoform X1 XP_011542360.1:p.Asp586Gly D (Asp) > G (Gly) Missense Variant
DNAH14 transcript variant X2 XM_011544059.3:c.1757A>G D [GAT] > G [GGT] Coding Sequence Variant
dynein axonemal heavy chain 14 isoform X2 XP_011542361.1:p.Asp586Gly D (Asp) > G (Gly) Missense Variant
DNAH14 transcript variant X3 XM_017000295.2:c.1757A>G D [GAT] > G [GGT] Coding Sequence Variant
dynein axonemal heavy chain 14 isoform X3 XP_016855784.1:p.Asp586Gly D (Asp) > G (Gly) Missense Variant
DNAH14 transcript variant X4 XM_006711735.4:c.1757A>G D [GAT] > G [GGT] Coding Sequence Variant
dynein axonemal heavy chain 14 isoform X4 XP_006711798.1:p.Asp586Gly D (Asp) > G (Gly) Missense Variant
DNAH14 transcript variant X5 XM_017000296.2:c.1757A>G D [GAT] > G [GGT] Coding Sequence Variant
dynein axonemal heavy chain 14 isoform X5 XP_016855785.1:p.Asp586Gly D (Asp) > G (Gly) Missense Variant
DNAH14 transcript variant X6 XM_011544061.3:c.1757A>G D [GAT] > G [GGT] Coding Sequence Variant
dynein axonemal heavy chain 14 isoform X6 XP_011542363.1:p.Asp586Gly D (Asp) > G (Gly) Missense Variant
DNAH14 transcript variant X7 XM_017000297.2:c.1757A>G D [GAT] > G [GGT] Coding Sequence Variant
dynein axonemal heavy chain 14 isoform X7 XP_016855786.1:p.Asp586Gly D (Asp) > G (Gly) Missense Variant
DNAH14 transcript variant X8 XM_011544062.3:c.1757A>G D [GAT] > G [GGT] Coding Sequence Variant
dynein axonemal heavy chain 14 isoform X8 XP_011542364.1:p.Asp586Gly D (Asp) > G (Gly) Missense Variant
DNAH14 transcript variant X9 XM_011544063.3:c.1757A>G D [GAT] > G [GGT] Coding Sequence Variant
dynein axonemal heavy chain 14 isoform X9 XP_011542365.1:p.Asp586Gly D (Asp) > G (Gly) Missense Variant
DNAH14 transcript variant X10 XM_011544064.3:c.1757A>G D [GAT] > G [GGT] Coding Sequence Variant
dynein axonemal heavy chain 14 isoform X10 XP_011542366.1:p.Asp586Gly D (Asp) > G (Gly) Missense Variant
DNAH14 transcript variant X11 XM_011544065.3:c.1757A>G D [GAT] > G [GGT] Coding Sequence Variant
dynein axonemal heavy chain 14 isoform X11 XP_011542367.1:p.Asp586Gly D (Asp) > G (Gly) Missense Variant
DNAH14 transcript variant X12 XM_011544066.3:c.1757A>G D [GAT] > G [GGT] Coding Sequence Variant
dynein axonemal heavy chain 14 isoform X12 XP_011542368.1:p.Asp586Gly D (Asp) > G (Gly) Missense Variant
DNAH14 transcript variant X13 XM_011544067.3:c.1757A>G D [GAT] > G [GGT] Coding Sequence Variant
dynein axonemal heavy chain 14 isoform X13 XP_011542369.1:p.Asp586Gly D (Asp) > G (Gly) Missense Variant
DNAH14 transcript variant X14 XM_047445624.1:c.1757A>G D [GAT] > G [GGT] Coding Sequence Variant
dynein axonemal heavy chain 14 isoform X14 XP_047301580.1:p.Asp586Gly D (Asp) > G (Gly) Missense Variant
DNAH14 transcript variant X15 XM_011544069.3:c.1757A>G D [GAT] > G [GGT] Coding Sequence Variant
dynein axonemal heavy chain 14 isoform X15 XP_011542371.1:p.Asp586Gly D (Asp) > G (Gly) Missense Variant
DNAH14 transcript variant X17 XM_011544071.3:c.1229A>G D [GAT] > G [GGT] Coding Sequence Variant
dynein axonemal heavy chain 14 isoform X17 XP_011542373.1:p.Asp410Gly D (Asp) > G (Gly) Missense Variant
DNAH14 transcript variant X19 XM_011544073.3:c.103A>G I [ATA] > V [GTA] Coding Sequence Variant
dynein axonemal heavy chain 14 isoform X19 XP_011542375.1:p.Ile35Val I (Ile) > V (Val) Missense Variant
DNAH14 transcript variant X20 XM_017000298.2:c.1757A>G D [GAT] > G [GGT] Coding Sequence Variant
dynein axonemal heavy chain 14 isoform X20 XP_016855787.1:p.Asp586Gly D (Asp) > G (Gly) Missense 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 1 NC_000001.11:g.225043103= NC_000001.11:g.225043103A>G
GRCh37.p13 chr 1 NC_000001.10:g.225230805= NC_000001.10:g.225230805A>G
DNAH14 RefSeqGene NG_053088.1:g.119682= NG_053088.1:g.119682A>G
DNAH14 transcript variant 7 NM_001367479.1:c.1757= NM_001367479.1:c.1757A>G
DNAH14 transcript variant X4 XM_006711735.4:c.1757= XM_006711735.4:c.1757A>G
DNAH14 transcript variant X5 XM_006711735.3:c.1757= XM_006711735.3:c.1757A>G
DNAH14 transcript variant X4 XM_006711735.2:c.1757= XM_006711735.2:c.1757A>G
DNAH14 transcript variant X1 XM_006711735.1:c.1757= XM_006711735.1:c.1757A>G
DNAH14 transcript variant X19 XM_011544073.3:c.103= XM_011544073.3:c.103A>G
DNAH14 transcript variant X20 XM_011544073.2:c.103= XM_011544073.2:c.103A>G
DNAH14 transcript variant X18 XM_011544073.1:c.103= XM_011544073.1:c.103A>G
DNAH14 transcript variant X1 XM_011544058.3:c.1757= XM_011544058.3:c.1757A>G
DNAH14 transcript variant X2 XM_011544058.2:c.1757= XM_011544058.2:c.1757A>G
DNAH14 transcript variant X2 XM_011544058.1:c.1757= XM_011544058.1:c.1757A>G
DNAH14 transcript variant X2 XM_011544059.3:c.1757= XM_011544059.3:c.1757A>G
DNAH14 transcript variant X3 XM_011544059.2:c.1757= XM_011544059.2:c.1757A>G
DNAH14 transcript variant X3 XM_011544059.1:c.1757= XM_011544059.1:c.1757A>G
DNAH14 transcript variant X6 XM_011544061.3:c.1757= XM_011544061.3:c.1757A>G
DNAH14 transcript variant X7 XM_011544061.2:c.1757= XM_011544061.2:c.1757A>G
DNAH14 transcript variant X6 XM_011544061.1:c.1757= XM_011544061.1:c.1757A>G
DNAH14 transcript variant X8 XM_011544062.3:c.1757= XM_011544062.3:c.1757A>G
DNAH14 transcript variant X9 XM_011544062.2:c.1757= XM_011544062.2:c.1757A>G
DNAH14 transcript variant X7 XM_011544062.1:c.1757= XM_011544062.1:c.1757A>G
DNAH14 transcript variant X9 XM_011544063.3:c.1757= XM_011544063.3:c.1757A>G
DNAH14 transcript variant X10 XM_011544063.2:c.1757= XM_011544063.2:c.1757A>G
DNAH14 transcript variant X8 XM_011544063.1:c.1757= XM_011544063.1:c.1757A>G
DNAH14 transcript variant X10 XM_011544064.3:c.1757= XM_011544064.3:c.1757A>G
DNAH14 transcript variant X11 XM_011544064.2:c.1757= XM_011544064.2:c.1757A>G
DNAH14 transcript variant X9 XM_011544064.1:c.1757= XM_011544064.1:c.1757A>G
DNAH14 transcript variant X11 XM_011544065.3:c.1757= XM_011544065.3:c.1757A>G
DNAH14 transcript variant X12 XM_011544065.2:c.1757= XM_011544065.2:c.1757A>G
DNAH14 transcript variant X10 XM_011544065.1:c.1757= XM_011544065.1:c.1757A>G
DNAH14 transcript variant X12 XM_011544066.3:c.1757= XM_011544066.3:c.1757A>G
DNAH14 transcript variant X13 XM_011544066.2:c.1757= XM_011544066.2:c.1757A>G
DNAH14 transcript variant X11 XM_011544066.1:c.1757= XM_011544066.1:c.1757A>G
DNAH14 transcript variant X13 XM_011544067.3:c.1757= XM_011544067.3:c.1757A>G
DNAH14 transcript variant X14 XM_011544067.2:c.1757= XM_011544067.2:c.1757A>G
DNAH14 transcript variant X12 XM_011544067.1:c.1757= XM_011544067.1:c.1757A>G
DNAH14 transcript variant X15 XM_011544069.3:c.1757= XM_011544069.3:c.1757A>G
DNAH14 transcript variant X16 XM_011544069.2:c.1757= XM_011544069.2:c.1757A>G
DNAH14 transcript variant X14 XM_011544069.1:c.1757= XM_011544069.1:c.1757A>G
DNAH14 transcript variant X17 XM_011544071.3:c.1229= XM_011544071.3:c.1229A>G
DNAH14 transcript variant X18 XM_011544071.2:c.1229= XM_011544071.2:c.1229A>G
DNAH14 transcript variant X16 XM_011544071.1:c.1229= XM_011544071.1:c.1229A>G
DNAH14 transcript variant X3 XM_017000295.2:c.1757= XM_017000295.2:c.1757A>G
DNAH14 transcript variant X4 XM_017000295.1:c.1757= XM_017000295.1:c.1757A>G
DNAH14 transcript variant X5 XM_017000296.2:c.1757= XM_017000296.2:c.1757A>G
DNAH14 transcript variant X6 XM_017000296.1:c.1757= XM_017000296.1:c.1757A>G
DNAH14 transcript variant X7 XM_017000297.2:c.1757= XM_017000297.2:c.1757A>G
DNAH14 transcript variant X8 XM_017000297.1:c.1757= XM_017000297.1:c.1757A>G
DNAH14 transcript variant X20 XM_017000298.2:c.1757= XM_017000298.2:c.1757A>G
DNAH14 transcript variant X21 XM_017000298.1:c.1757= XM_017000298.1:c.1757A>G
DNAH14 transcript variant X14 XM_047445624.1:c.1757= XM_047445624.1:c.1757A>G
DNAH14 transcript variant 1 NM_001373.1:c.1757= NM_001373.1:c.1757A>G
dynein axonemal heavy chain 14 isoform 7 NP_001354408.1:p.Asp586= NP_001354408.1:p.Asp586Gly
dynein axonemal heavy chain 14 isoform X4 XP_006711798.1:p.Asp586= XP_006711798.1:p.Asp586Gly
dynein axonemal heavy chain 14 isoform X19 XP_011542375.1:p.Ile35= XP_011542375.1:p.Ile35Val
dynein axonemal heavy chain 14 isoform X1 XP_011542360.1:p.Asp586= XP_011542360.1:p.Asp586Gly
dynein axonemal heavy chain 14 isoform X2 XP_011542361.1:p.Asp586= XP_011542361.1:p.Asp586Gly
dynein axonemal heavy chain 14 isoform X6 XP_011542363.1:p.Asp586= XP_011542363.1:p.Asp586Gly
dynein axonemal heavy chain 14 isoform X8 XP_011542364.1:p.Asp586= XP_011542364.1:p.Asp586Gly
dynein axonemal heavy chain 14 isoform X9 XP_011542365.1:p.Asp586= XP_011542365.1:p.Asp586Gly
dynein axonemal heavy chain 14 isoform X10 XP_011542366.1:p.Asp586= XP_011542366.1:p.Asp586Gly
dynein axonemal heavy chain 14 isoform X11 XP_011542367.1:p.Asp586= XP_011542367.1:p.Asp586Gly
dynein axonemal heavy chain 14 isoform X12 XP_011542368.1:p.Asp586= XP_011542368.1:p.Asp586Gly
dynein axonemal heavy chain 14 isoform X13 XP_011542369.1:p.Asp586= XP_011542369.1:p.Asp586Gly
dynein axonemal heavy chain 14 isoform X15 XP_011542371.1:p.Asp586= XP_011542371.1:p.Asp586Gly
dynein axonemal heavy chain 14 isoform X17 XP_011542373.1:p.Asp410= XP_011542373.1:p.Asp410Gly
dynein axonemal heavy chain 14 isoform X3 XP_016855784.1:p.Asp586= XP_016855784.1:p.Asp586Gly
dynein axonemal heavy chain 14 isoform X5 XP_016855785.1:p.Asp586= XP_016855785.1:p.Asp586Gly
dynein axonemal heavy chain 14 isoform X7 XP_016855786.1:p.Asp586= XP_016855786.1:p.Asp586Gly
dynein axonemal heavy chain 14 isoform X20 XP_016855787.1:p.Asp586= XP_016855787.1:p.Asp586Gly
dynein axonemal heavy chain 14 isoform X14 XP_047301580.1:p.Asp586= XP_047301580.1:p.Asp586Gly
dynein heavy chain 14, axonemal isoform 1 NP_001364.1:p.Asp586= NP_001364.1:p.Asp586Gly
DNAH14 transcript variant X16 XM_011544070.3:c.1489-641= XM_011544070.3:c.1489-641A>G
DNAH14 transcript variant X18 XM_011544072.3:c.1107+35559= XM_011544072.3:c.1107+35559A>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#.

2 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss4012280148 Apr 27, 2021 (155)
2 TOPMED ss4485570422 Apr 27, 2021 (155)
3 gnomAD - Genomes NC_000001.11 - 225043103 Apr 27, 2021 (155)
4 TopMed NC_000001.11 - 225043103 Apr 27, 2021 (155)
5 ALFA NC_000001.11 - 225043103 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
41213463, 49176757, 8861021398, ss4012280148, ss4485570422 NC_000001.11:225043102:A:G NC_000001.11:225043102: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 rs1487033477

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