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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.

rs1473980094

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:73291926 (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
T>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000004 (1/251430, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CFAP70 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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 251430 T=0.999996 A=0.000004
gnomAD - Exomes European Sub 135356 T=1.000000 A=0.000000
gnomAD - Exomes Asian Sub 49008 T=0.99998 A=0.00002
gnomAD - Exomes American Sub 34592 T=1.00000 A=0.00000
gnomAD - Exomes African Sub 16256 T=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10080 T=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6138 T=1.0000 A=0.0000
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 10 NC_000010.11:g.73291926T>A
GRCh37.p13 chr 10 NC_000010.10:g.75051684T>A
Gene: CFAP70, cilia and flagella associated protein 70 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CFAP70 transcript variant 4 NM_001367801.1:c.2069A>T E [GAG] > V [GTG] Coding Sequence Variant
cilia- and flagella-associated protein 70 isoform 4 NP_001354730.1:p.Glu690Val E (Glu) > V (Val) Missense Variant
CFAP70 transcript variant 2 NM_001350933.2:c.1859A>T E [GAG] > V [GTG] Coding Sequence Variant
cilia- and flagella-associated protein 70 isoform 2 NP_001337862.1:p.Glu620Val E (Glu) > V (Val) Missense Variant
CFAP70 transcript variant 3 NM_001350934.2:c.1493A>T E [GAG] > V [GTG] Coding Sequence Variant
cilia- and flagella-associated protein 70 isoform 3 NP_001337863.1:p.Glu498Val E (Glu) > V (Val) Missense Variant
CFAP70 transcript variant X1 XM_017015620.2:c.2135A>T E [GAG] > V [GTG] Coding Sequence Variant
cilia- and flagella-associated protein 70 isoform X1 XP_016871109.1:p.Glu712Val E (Glu) > V (Val) Missense Variant
CFAP70 transcript variant X2 XM_047424551.1:c.2135A>T E [GAG] > V [GTG] Coding Sequence Variant
cilia- and flagella-associated protein 70 isoform X1 XP_047280507.1:p.Glu712Val E (Glu) > V (Val) Missense Variant
CFAP70 transcript variant X3 XM_017015621.2:c.2132A>T E [GAG] > V [GTG] Coding Sequence Variant
cilia- and flagella-associated protein 70 isoform X2 XP_016871110.1:p.Glu711Val E (Glu) > V (Val) Missense Variant
CFAP70 transcript variant X4 XM_017015622.2:c.2132A>T E [GAG] > V [GTG] Coding Sequence Variant
cilia- and flagella-associated protein 70 isoform X3 XP_016871111.1:p.Glu711Val E (Glu) > V (Val) Missense Variant
CFAP70 transcript variant X5 XM_006717604.3:c.2069A>T E [GAG] > V [GTG] Coding Sequence Variant
cilia- and flagella-associated protein 70 isoform X4 XP_006717667.1:p.Glu690Val E (Glu) > V (Val) Missense Variant
CFAP70 transcript variant X6 XM_006717605.3:c.2069A>T E [GAG] > V [GTG] Coding Sequence Variant
cilia- and flagella-associated protein 70 isoform X4 XP_006717668.1:p.Glu690Val E (Glu) > V (Val) Missense Variant
CFAP70 transcript variant X7 XM_047424552.1:c.2069A>T E [GAG] > V [GTG] Coding Sequence Variant
cilia- and flagella-associated protein 70 isoform X4 XP_047280508.1:p.Glu690Val E (Glu) > V (Val) Missense Variant
CFAP70 transcript variant X8 XM_017015623.2:c.2135A>T E [GAG] > V [GTG] Coding Sequence Variant
cilia- and flagella-associated protein 70 isoform X5 XP_016871112.1:p.Glu712Val E (Glu) > V (Val) Missense Variant
CFAP70 transcript variant X9 XM_017015624.2:c.2054A>T E [GAG] > V [GTG] Coding Sequence Variant
cilia- and flagella-associated protein 70 isoform X6 XP_016871113.1:p.Glu685Val E (Glu) > V (Val) Missense Variant
CFAP70 transcript variant X10 XM_017015625.2:c.2135A>T E [GAG] > V [GTG] Coding Sequence Variant
cilia- and flagella-associated protein 70 isoform X7 XP_016871114.1:p.Glu712Val E (Glu) > V (Val) Missense Variant
CFAP70 transcript variant X11 XM_017015626.2:c.2135A>T E [GAG] > V [GTG] Coding Sequence Variant
cilia- and flagella-associated protein 70 isoform X8 XP_016871115.1:p.Glu712Val E (Glu) > V (Val) Missense Variant
CFAP70 transcript variant X12 XM_017015627.2:c.1925A>T E [GAG] > V [GTG] Coding Sequence Variant
cilia- and flagella-associated protein 70 isoform X9 XP_016871116.1:p.Glu642Val E (Glu) > V (Val) Missense Variant
CFAP70 transcript variant X13 XM_017015629.2:c.2135A>T E [GAG] > V [GTG] Coding Sequence Variant
cilia- and flagella-associated protein 70 isoform X10 XP_016871118.1:p.Glu712Val E (Glu) > V (Val) Missense Variant
CFAP70 transcript variant X14 XM_006717610.3:c.1493A>T E [GAG] > V [GTG] Coding Sequence Variant
cilia- and flagella-associated protein 70 isoform X11 XP_006717673.1:p.Glu498Val E (Glu) > V (Val) Missense Variant
CFAP70 transcript variant X15 XM_011539212.3:c.1493A>T E [GAG] > V [GTG] Coding Sequence Variant
cilia- and flagella-associated protein 70 isoform X11 XP_011537514.1:p.Glu498Val E (Glu) > V (Val) Missense Variant
CFAP70 transcript variant X16 XM_006717611.5:c.1493A>T E [GAG] > V [GTG] Coding Sequence Variant
cilia- and flagella-associated protein 70 isoform X11 XP_006717674.1:p.Glu498Val E (Glu) > V (Val) Missense Variant
CFAP70 transcript variant X17 XM_047424553.1:c.2135A>T E [GAG] > V [GTG] Coding Sequence Variant
cilia- and flagella-associated protein 70 isoform X12 XP_047280509.1:p.Glu712Val E (Glu) > V (Val) Missense Variant
CFAP70 transcript variant X18 XM_047424554.1:c.2135A>T E [GAG] > V [GTG] Coding Sequence Variant
cilia- and flagella-associated protein 70 isoform X13 XP_047280510.1:p.Glu712Val E (Glu) > V (Val) Missense Variant
CFAP70 transcript variant X19 XM_047424555.1:c.2135A>T E [GAG] > V [GTG] Coding Sequence Variant
cilia- and flagella-associated protein 70 isoform X14 XP_047280511.1:p.Glu712Val E (Glu) > V (Val) 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 T= A
GRCh38.p14 chr 10 NC_000010.11:g.73291926= NC_000010.11:g.73291926T>A
GRCh37.p13 chr 10 NC_000010.10:g.75051684= NC_000010.10:g.75051684T>A
CFAP70 transcript variant X16 XM_006717611.5:c.1493= XM_006717611.5:c.1493A>T
CFAP70 transcript variant X17 XM_006717611.4:c.1493= XM_006717611.4:c.1493A>T
CFAP70 transcript variant X19 XM_006717611.3:c.1493= XM_006717611.3:c.1493A>T
CFAP70 transcript variant X14 XM_006717611.2:c.1493= XM_006717611.2:c.1493A>T
TTC18 transcript variant X16 XM_006717611.1:c.1493= XM_006717611.1:c.1493A>T
CFAP70 transcript variant X5 XM_006717604.3:c.2069= XM_006717604.3:c.2069A>T
CFAP70 transcript variant X4 XM_006717604.2:c.2069= XM_006717604.2:c.2069A>T
TTC18 transcript variant X9 XM_006717604.1:c.2069= XM_006717604.1:c.2069A>T
CFAP70 transcript variant X14 XM_006717610.3:c.1493= XM_006717610.3:c.1493A>T
CFAP70 transcript variant X14 XM_006717610.2:c.1493= XM_006717610.2:c.1493A>T
TTC18 transcript variant X15 XM_006717610.1:c.1493= XM_006717610.1:c.1493A>T
CFAP70 transcript variant 1 NM_145170.3:c.2069= NM_145170.3:c.2069A>T
CFAP70 transcript variant X6 XM_006717605.3:c.2069= XM_006717605.3:c.2069A>T
CFAP70 transcript variant X5 XM_006717605.2:c.2069= XM_006717605.2:c.2069A>T
TTC18 transcript variant X10 XM_006717605.1:c.2069= XM_006717605.1:c.2069A>T
CFAP70 transcript variant X15 XM_011539212.3:c.1493= XM_011539212.3:c.1493A>T
CFAP70 transcript variant X15 XM_011539212.2:c.1493= XM_011539212.2:c.1493A>T
CFAP70 transcript variant X13 XM_011539212.1:c.1493= XM_011539212.1:c.1493A>T
CFAP70 transcript variant X1 XM_017015620.2:c.2135= XM_017015620.2:c.2135A>T
CFAP70 transcript variant X1 XM_017015620.1:c.2135= XM_017015620.1:c.2135A>T
CFAP70 transcript variant X4 XM_017015622.2:c.2132= XM_017015622.2:c.2132A>T
CFAP70 transcript variant X3 XM_017015622.1:c.2132= XM_017015622.1:c.2132A>T
CFAP70 transcript variant X3 XM_017015621.2:c.2132= XM_017015621.2:c.2132A>T
CFAP70 transcript variant X2 XM_017015621.1:c.2132= XM_017015621.1:c.2132A>T
CFAP70 transcript variant X8 XM_017015623.2:c.2135= XM_017015623.2:c.2135A>T
CFAP70 transcript variant X6 XM_017015623.1:c.2135= XM_017015623.1:c.2135A>T
CFAP70 transcript variant X9 XM_017015624.2:c.2054= XM_017015624.2:c.2054A>T
CFAP70 transcript variant X7 XM_017015624.1:c.2054= XM_017015624.1:c.2054A>T
CFAP70 transcript variant X10 XM_017015625.2:c.2135= XM_017015625.2:c.2135A>T
CFAP70 transcript variant X8 XM_017015625.1:c.2135= XM_017015625.1:c.2135A>T
CFAP70 transcript variant X11 XM_017015626.2:c.2135= XM_017015626.2:c.2135A>T
CFAP70 transcript variant X9 XM_017015626.1:c.2135= XM_017015626.1:c.2135A>T
CFAP70 transcript variant X12 XM_017015627.2:c.1925= XM_017015627.2:c.1925A>T
CFAP70 transcript variant X10 XM_017015627.1:c.1925= XM_017015627.1:c.1925A>T
CFAP70 transcript variant X13 XM_017015629.2:c.2135= XM_017015629.2:c.2135A>T
CFAP70 transcript variant X11 XM_017015629.1:c.2135= XM_017015629.1:c.2135A>T
CFAP70 transcript variant 3 NM_001350934.2:c.1493= NM_001350934.2:c.1493A>T
CFAP70 transcript variant 3 NM_001350934.1:c.1493= NM_001350934.1:c.1493A>T
CFAP70 transcript variant 2 NM_001350933.2:c.1859= NM_001350933.2:c.1859A>T
CFAP70 transcript variant 2 NM_001350933.1:c.1859= NM_001350933.1:c.1859A>T
CFAP70 transcript variant X2 XM_047424551.1:c.2135= XM_047424551.1:c.2135A>T
CFAP70 transcript variant X17 XM_047424553.1:c.2135= XM_047424553.1:c.2135A>T
CFAP70 transcript variant X18 XM_047424554.1:c.2135= XM_047424554.1:c.2135A>T
CFAP70 transcript variant X19 XM_047424555.1:c.2135= XM_047424555.1:c.2135A>T
CFAP70 transcript variant X7 XM_047424552.1:c.2069= XM_047424552.1:c.2069A>T
CFAP70 transcript variant 4 NM_001367801.1:c.2069= NM_001367801.1:c.2069A>T
cilia- and flagella-associated protein 70 isoform X11 XP_006717674.1:p.Glu498= XP_006717674.1:p.Glu498Val
cilia- and flagella-associated protein 70 isoform X4 XP_006717667.1:p.Glu690= XP_006717667.1:p.Glu690Val
cilia- and flagella-associated protein 70 isoform X11 XP_006717673.1:p.Glu498= XP_006717673.1:p.Glu498Val
cilia- and flagella-associated protein 70 isoform X4 XP_006717668.1:p.Glu690= XP_006717668.1:p.Glu690Val
cilia- and flagella-associated protein 70 isoform X11 XP_011537514.1:p.Glu498= XP_011537514.1:p.Glu498Val
cilia- and flagella-associated protein 70 isoform X1 XP_016871109.1:p.Glu712= XP_016871109.1:p.Glu712Val
cilia- and flagella-associated protein 70 isoform X3 XP_016871111.1:p.Glu711= XP_016871111.1:p.Glu711Val
cilia- and flagella-associated protein 70 isoform X2 XP_016871110.1:p.Glu711= XP_016871110.1:p.Glu711Val
cilia- and flagella-associated protein 70 isoform X5 XP_016871112.1:p.Glu712= XP_016871112.1:p.Glu712Val
cilia- and flagella-associated protein 70 isoform X6 XP_016871113.1:p.Glu685= XP_016871113.1:p.Glu685Val
cilia- and flagella-associated protein 70 isoform X7 XP_016871114.1:p.Glu712= XP_016871114.1:p.Glu712Val
cilia- and flagella-associated protein 70 isoform X8 XP_016871115.1:p.Glu712= XP_016871115.1:p.Glu712Val
cilia- and flagella-associated protein 70 isoform X9 XP_016871116.1:p.Glu642= XP_016871116.1:p.Glu642Val
cilia- and flagella-associated protein 70 isoform X10 XP_016871118.1:p.Glu712= XP_016871118.1:p.Glu712Val
cilia- and flagella-associated protein 70 isoform 3 NP_001337863.1:p.Glu498= NP_001337863.1:p.Glu498Val
cilia- and flagella-associated protein 70 isoform 2 NP_001337862.1:p.Glu620= NP_001337862.1:p.Glu620Val
cilia- and flagella-associated protein 70 isoform X1 XP_047280507.1:p.Glu712= XP_047280507.1:p.Glu712Val
cilia- and flagella-associated protein 70 isoform X12 XP_047280509.1:p.Glu712= XP_047280509.1:p.Glu712Val
cilia- and flagella-associated protein 70 isoform X13 XP_047280510.1:p.Glu712= XP_047280510.1:p.Glu712Val
cilia- and flagella-associated protein 70 isoform X14 XP_047280511.1:p.Glu712= XP_047280511.1:p.Glu712Val
cilia- and flagella-associated protein 70 isoform X4 XP_047280508.1:p.Glu690= XP_047280508.1:p.Glu690Val
cilia- and flagella-associated protein 70 isoform 4 NP_001354730.1:p.Glu690= NP_001354730.1:p.Glu690Val
cilia- and flagella-associated protein 70 isoform 1 NP_660153.3:p.Glu690= NP_660153.3:p.Glu690Val
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#.

1 SubSNP, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2738327725 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000010.10 - 75051684 Jul 13, 2019 (153)
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
7525997, ss2738327725 NC_000010.10:75051683:T:A NC_000010.11:73291925:T:A (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 rs1473980094

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