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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.

rs752670853

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr16:1587266 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000004 (1/264690, TOPMED)
T=0.000020 (5/251416, GnomAD_exome)
T=0.000025 (3/121390, ExAC) (+ 1 more)
T=0.00010 (2/19668, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
IFT140 : Missense Variant
LOC105371046 : Intron 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 19668 C=0.99990 T=0.00010
European Sub 13024 C=0.99985 T=0.00015
African Sub 2888 C=1.0000 T=0.0000
African Others Sub 92 C=1.00 T=0.00
African American Sub 2796 C=1.0000 T=0.0000
Asian Sub 164 C=1.000 T=0.000
East Asian Sub 110 C=1.000 T=0.000
Other Asian Sub 54 C=1.00 T=0.00
Latin American 1 Sub 146 C=1.000 T=0.000
Latin American 2 Sub 610 C=1.000 T=0.000
South Asian Sub 94 C=1.00 T=0.00
Other Sub 2742 C=1.0000 T=0.0000


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=0.999996 T=0.000004
gnomAD - Exomes Global Study-wide 251416 C=0.999980 T=0.000020
gnomAD - Exomes European Sub 135348 C=0.999985 T=0.000015
gnomAD - Exomes Asian Sub 49006 C=1.00000 T=0.00000
gnomAD - Exomes American Sub 34592 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 16252 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10080 C=0.99980 T=0.00020
gnomAD - Exomes Other Sub 6138 C=0.9998 T=0.0002
ExAC Global Study-wide 121390 C=0.999975 T=0.000025
ExAC Europe Sub 73342 C=0.99997 T=0.00003
ExAC Asian Sub 25164 C=1.00000 T=0.00000
ExAC American Sub 11576 C=1.00000 T=0.00000
ExAC African Sub 10402 C=1.00000 T=0.00000
ExAC Other Sub 906 C=0.999 T=0.001
Allele Frequency Aggregator Total Global 19668 C=0.99990 T=0.00010
Allele Frequency Aggregator European Sub 13024 C=0.99985 T=0.00015
Allele Frequency Aggregator African Sub 2888 C=1.0000 T=0.0000
Allele Frequency Aggregator Other Sub 2742 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 164 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 94 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 16 NC_000016.10:g.1587266C>T
GRCh37.p13 chr 16 NC_000016.9:g.1637267C>T
IFT140 RefSeqGene NG_032783.1:g.29843G>A
Gene: IFT140, intraflagellar transport 140 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
IFT140 transcript NM_014714.4:c.941G>A S [AGT] > N [AAT] Coding Sequence Variant
intraflagellar transport protein 140 homolog NP_055529.2:p.Ser314Asn S (Ser) > N (Asn) Missense Variant
IFT140 transcript variant X25 XM_006720992.4:c. N/A Genic Upstream Transcript Variant
IFT140 transcript variant X9 XM_011522767.2:c. N/A Genic Upstream Transcript Variant
IFT140 transcript variant X10 XM_047434971.1:c. N/A Genic Upstream Transcript Variant
IFT140 transcript variant X1 XM_006720991.4:c.941G>A S [AGT] > N [AAT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X1 XP_006721054.1:p.Ser314Asn S (Ser) > N (Asn) Missense Variant
IFT140 transcript variant X2 XM_047434965.1:c.941G>A S [AGT] > N [AAT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X1 XP_047290921.1:p.Ser314Asn S (Ser) > N (Asn) Missense Variant
IFT140 transcript variant X3 XM_047434966.1:c.941G>A S [AGT] > N [AAT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X1 XP_047290922.1:p.Ser314Asn S (Ser) > N (Asn) Missense Variant
IFT140 transcript variant X4 XM_006720990.4:c.941G>A S [AGT] > N [AAT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X1 XP_006721053.1:p.Ser314Asn S (Ser) > N (Asn) Missense Variant
IFT140 transcript variant X5 XM_047434967.1:c.941G>A S [AGT] > N [AAT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X1 XP_047290923.1:p.Ser314Asn S (Ser) > N (Asn) Missense Variant
IFT140 transcript variant X6 XM_047434968.1:c.941G>A S [AGT] > N [AAT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X1 XP_047290924.1:p.Ser314Asn S (Ser) > N (Asn) Missense Variant
IFT140 transcript variant X7 XM_047434969.1:c.941G>A S [AGT] > N [AAT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X1 XP_047290925.1:p.Ser314Asn S (Ser) > N (Asn) Missense Variant
IFT140 transcript variant X8 XM_047434970.1:c.941G>A S [AGT] > N [AAT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X2 XP_047290926.1:p.Ser314Asn S (Ser) > N (Asn) Missense Variant
IFT140 transcript variant X11 XM_011522769.4:c.941G>A S [AGT] > N [AAT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X5 XP_011521071.1:p.Ser314Asn S (Ser) > N (Asn) Missense Variant
IFT140 transcript variant X12 XM_047434972.1:c.941G>A S [AGT] > N [AAT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X6 XP_047290928.1:p.Ser314Asn S (Ser) > N (Asn) Missense Variant
IFT140 transcript variant X13 XM_005255725.6:c.941G>A S [AGT] > N [AAT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X7 XP_005255782.1:p.Ser314Asn S (Ser) > N (Asn) Missense Variant
IFT140 transcript variant X14 XM_047434973.1:c.941G>A S [AGT] > N [AAT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X7 XP_047290929.1:p.Ser314Asn S (Ser) > N (Asn) Missense Variant
IFT140 transcript variant X15 XM_011522771.4:c.941G>A S [AGT] > N [AAT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X8 XP_011521073.1:p.Ser314Asn S (Ser) > N (Asn) Missense Variant
IFT140 transcript variant X16 XM_047434974.1:c.941G>A S [AGT] > N [AAT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X8 XP_047290930.1:p.Ser314Asn S (Ser) > N (Asn) Missense Variant
IFT140 transcript variant X17 XM_047434975.1:c.941G>A S [AGT] > N [AAT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X8 XP_047290931.1:p.Ser314Asn S (Ser) > N (Asn) Missense Variant
IFT140 transcript variant X18 XM_011522772.4:c.941G>A S [AGT] > N [AAT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X9 XP_011521074.1:p.Ser314Asn S (Ser) > N (Asn) Missense Variant
IFT140 transcript variant X19 XM_047434976.1:c.941G>A S [AGT] > N [AAT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X9 XP_047290932.1:p.Ser314Asn S (Ser) > N (Asn) Missense Variant
IFT140 transcript variant X20 XM_005255726.5:c.941G>A S [AGT] > N [AAT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X10 XP_005255783.1:p.Ser314Asn S (Ser) > N (Asn) Missense Variant
IFT140 transcript variant X21 XM_047434977.1:c.941G>A S [AGT] > N [AAT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X10 XP_047290933.1:p.Ser314Asn S (Ser) > N (Asn) Missense Variant
IFT140 transcript variant X22 XM_047434978.1:c.941G>A S [AGT] > N [AAT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X10 XP_047290934.1:p.Ser314Asn S (Ser) > N (Asn) Missense Variant
IFT140 transcript variant X23 XM_047434979.1:c.941G>A S [AGT] > N [AAT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X10 XP_047290935.1:p.Ser314Asn S (Ser) > N (Asn) Missense Variant
IFT140 transcript variant X24 XM_047434980.1:c.941G>A S [AGT] > N [AAT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X10 XP_047290936.1:p.Ser314Asn S (Ser) > N (Asn) Missense Variant
Gene: LOC105371046, uncharacterized LOC105371046 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC105371046 transcript NR_135176.1:n. N/A Intron 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= T
GRCh38.p14 chr 16 NC_000016.10:g.1587266= NC_000016.10:g.1587266C>T
GRCh37.p13 chr 16 NC_000016.9:g.1637267= NC_000016.9:g.1637267C>T
IFT140 RefSeqGene NG_032783.1:g.29843= NG_032783.1:g.29843G>A
IFT140 transcript NM_014714.4:c.941= NM_014714.4:c.941G>A
IFT140 transcript NM_014714.3:c.941= NM_014714.3:c.941G>A
IFT140 transcript variant X13 XM_005255725.6:c.941= XM_005255725.6:c.941G>A
IFT140 transcript variant X8 XM_005255725.5:c.941= XM_005255725.5:c.941G>A
IFT140 transcript variant X8 XM_005255725.4:c.941= XM_005255725.4:c.941G>A
IFT140 transcript variant X8 XM_005255725.3:c.941= XM_005255725.3:c.941G>A
IFT140 transcript variant X2 XM_005255725.2:c.941= XM_005255725.2:c.941G>A
IFT140 transcript variant X2 XM_005255725.1:c.941= XM_005255725.1:c.941G>A
IFT140 transcript variant X20 XM_005255726.5:c.941= XM_005255726.5:c.941G>A
IFT140 transcript variant X11 XM_005255726.4:c.941= XM_005255726.4:c.941G>A
IFT140 transcript variant X11 XM_005255726.3:c.941= XM_005255726.3:c.941G>A
IFT140 transcript variant X11 XM_005255726.2:c.941= XM_005255726.2:c.941G>A
IFT140 transcript variant X3 XM_005255726.1:c.941= XM_005255726.1:c.941G>A
IFT140 transcript variant X18 XM_011522772.4:c.941= XM_011522772.4:c.941G>A
IFT140 transcript variant X10 XM_011522772.3:c.941= XM_011522772.3:c.941G>A
IFT140 transcript variant X10 XM_011522772.2:c.941= XM_011522772.2:c.941G>A
IFT140 transcript variant X10 XM_011522772.1:c.941= XM_011522772.1:c.941G>A
IFT140 transcript variant X1 XM_006720991.4:c.941= XM_006720991.4:c.941G>A
IFT140 transcript variant X1 XM_006720991.3:c.941= XM_006720991.3:c.941G>A
IFT140 transcript variant X2 XM_006720991.2:c.941= XM_006720991.2:c.941G>A
IFT140 transcript variant X6 XM_006720991.1:c.941= XM_006720991.1:c.941G>A
IFT140 transcript variant X4 XM_006720990.4:c.941= XM_006720990.4:c.941G>A
IFT140 transcript variant X2 XM_006720990.3:c.941= XM_006720990.3:c.941G>A
IFT140 transcript variant X1 XM_006720990.2:c.941= XM_006720990.2:c.941G>A
IFT140 transcript variant X5 XM_006720990.1:c.941= XM_006720990.1:c.941G>A
IFT140 transcript variant X15 XM_011522771.4:c.941= XM_011522771.4:c.941G>A
IFT140 transcript variant X9 XM_011522771.3:c.941= XM_011522771.3:c.941G>A
IFT140 transcript variant X9 XM_011522771.2:c.941= XM_011522771.2:c.941G>A
IFT140 transcript variant X9 XM_011522771.1:c.941= XM_011522771.1:c.941G>A
IFT140 transcript variant X11 XM_011522769.4:c.941= XM_011522769.4:c.941G>A
IFT140 transcript variant X7 XM_011522769.3:c.941= XM_011522769.3:c.941G>A
IFT140 transcript variant X7 XM_011522769.2:c.941= XM_011522769.2:c.941G>A
IFT140 transcript variant X7 XM_011522769.1:c.941= XM_011522769.1:c.941G>A
IFT140 transcript variant X19 XM_047434976.1:c.941= XM_047434976.1:c.941G>A
IFT140 transcript variant X6 XM_047434968.1:c.941= XM_047434968.1:c.941G>A
IFT140 transcript variant X5 XM_047434967.1:c.941= XM_047434967.1:c.941G>A
IFT140 transcript variant X12 XM_047434972.1:c.941= XM_047434972.1:c.941G>A
IFT140 transcript variant X3 XM_047434966.1:c.941= XM_047434966.1:c.941G>A
IFT140 transcript variant X7 XM_047434969.1:c.941= XM_047434969.1:c.941G>A
IFT140 transcript variant X8 XM_047434970.1:c.941= XM_047434970.1:c.941G>A
IFT140 transcript variant X2 XM_047434965.1:c.941= XM_047434965.1:c.941G>A
IFT140 transcript variant X16 XM_047434974.1:c.941= XM_047434974.1:c.941G>A
IFT140 transcript variant X21 XM_047434977.1:c.941= XM_047434977.1:c.941G>A
IFT140 transcript variant X14 XM_047434973.1:c.941= XM_047434973.1:c.941G>A
IFT140 transcript variant X17 XM_047434975.1:c.941= XM_047434975.1:c.941G>A
IFT140 transcript variant X22 XM_047434978.1:c.941= XM_047434978.1:c.941G>A
IFT140 transcript variant X24 XM_047434980.1:c.941= XM_047434980.1:c.941G>A
IFT140 transcript variant X23 XM_047434979.1:c.941= XM_047434979.1:c.941G>A
intraflagellar transport protein 140 homolog NP_055529.2:p.Ser314= NP_055529.2:p.Ser314Asn
intraflagellar transport protein 140 homolog isoform X7 XP_005255782.1:p.Ser314= XP_005255782.1:p.Ser314Asn
intraflagellar transport protein 140 homolog isoform X10 XP_005255783.1:p.Ser314= XP_005255783.1:p.Ser314Asn
intraflagellar transport protein 140 homolog isoform X9 XP_011521074.1:p.Ser314= XP_011521074.1:p.Ser314Asn
intraflagellar transport protein 140 homolog isoform X1 XP_006721054.1:p.Ser314= XP_006721054.1:p.Ser314Asn
intraflagellar transport protein 140 homolog isoform X1 XP_006721053.1:p.Ser314= XP_006721053.1:p.Ser314Asn
intraflagellar transport protein 140 homolog isoform X8 XP_011521073.1:p.Ser314= XP_011521073.1:p.Ser314Asn
intraflagellar transport protein 140 homolog isoform X5 XP_011521071.1:p.Ser314= XP_011521071.1:p.Ser314Asn
intraflagellar transport protein 140 homolog isoform X9 XP_047290932.1:p.Ser314= XP_047290932.1:p.Ser314Asn
intraflagellar transport protein 140 homolog isoform X1 XP_047290924.1:p.Ser314= XP_047290924.1:p.Ser314Asn
intraflagellar transport protein 140 homolog isoform X1 XP_047290923.1:p.Ser314= XP_047290923.1:p.Ser314Asn
intraflagellar transport protein 140 homolog isoform X6 XP_047290928.1:p.Ser314= XP_047290928.1:p.Ser314Asn
intraflagellar transport protein 140 homolog isoform X1 XP_047290922.1:p.Ser314= XP_047290922.1:p.Ser314Asn
intraflagellar transport protein 140 homolog isoform X1 XP_047290925.1:p.Ser314= XP_047290925.1:p.Ser314Asn
intraflagellar transport protein 140 homolog isoform X2 XP_047290926.1:p.Ser314= XP_047290926.1:p.Ser314Asn
intraflagellar transport protein 140 homolog isoform X1 XP_047290921.1:p.Ser314= XP_047290921.1:p.Ser314Asn
intraflagellar transport protein 140 homolog isoform X8 XP_047290930.1:p.Ser314= XP_047290930.1:p.Ser314Asn
intraflagellar transport protein 140 homolog isoform X10 XP_047290933.1:p.Ser314= XP_047290933.1:p.Ser314Asn
intraflagellar transport protein 140 homolog isoform X7 XP_047290929.1:p.Ser314= XP_047290929.1:p.Ser314Asn
intraflagellar transport protein 140 homolog isoform X8 XP_047290931.1:p.Ser314= XP_047290931.1:p.Ser314Asn
intraflagellar transport protein 140 homolog isoform X10 XP_047290934.1:p.Ser314= XP_047290934.1:p.Ser314Asn
intraflagellar transport protein 140 homolog isoform X10 XP_047290936.1:p.Ser314= XP_047290936.1:p.Ser314Asn
intraflagellar transport protein 140 homolog isoform X10 XP_047290935.1:p.Ser314= XP_047290935.1:p.Ser314Asn
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#.

4 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1692070638 Apr 01, 2015 (144)
2 HUMAN_LONGEVITY ss2209897419 Dec 20, 2016 (150)
3 GNOMAD ss2741623417 Nov 08, 2017 (151)
4 TOPMED ss5004746222 Apr 26, 2021 (155)
5 ExAC NC_000016.9 - 1637267 Oct 12, 2018 (152)
6 gnomAD - Exomes NC_000016.9 - 1637267 Jul 13, 2019 (153)
7 TopMed NC_000016.10 - 1587266 Apr 26, 2021 (155)
8 ALFA NC_000016.10 - 1587266 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
2461994, 10895682, ss1692070638, ss2741623417 NC_000016.9:1637266:C:T NC_000016.10:1587265:C:T (self)
220291883, 11030412567, ss2209897419, ss5004746222 NC_000016.10:1587265:C:T NC_000016.10:1587265: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 rs752670853

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.post761+d5e8e07