Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs1418647067

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:95839726 (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=0.000004 (1/264690, TOPMED)
G=0.000004 (1/251480, GnomAD_exome)
G=0.00003 (1/32062, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ENTPD1 : Synonymous Variant
ENTPD1-AS1 : 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 32062 A=0.99997 G=0.00003 0.999938 0.0 6.2e-05 0
European Sub 23860 A=0.99996 G=0.00004 0.999916 0.0 0.000084 0
African Sub 2314 A=1.0000 G=0.0000 1.0 0.0 0.0 N/A
African Others Sub 84 A=1.00 G=0.00 1.0 0.0 0.0 N/A
African American Sub 2230 A=1.0000 G=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 A=1.000 G=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 A=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 A=1.00 G=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 500 A=1.000 G=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 628 A=1.000 G=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 A=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Sub 4558 A=1.0000 G=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
TopMed Global Study-wide 264690 A=0.999996 G=0.000004
gnomAD - Exomes Global Study-wide 251480 A=0.999996 G=0.000004
gnomAD - Exomes European Sub 135404 A=0.999993 G=0.000007
gnomAD - Exomes Asian Sub 49010 A=1.00000 G=0.00000
gnomAD - Exomes American Sub 34592 A=1.00000 G=0.00000
gnomAD - Exomes African Sub 16256 A=1.00000 G=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10078 A=1.00000 G=0.00000
gnomAD - Exomes Other Sub 6140 A=1.0000 G=0.0000
Allele Frequency Aggregator Total Global 32062 A=0.99997 G=0.00003
Allele Frequency Aggregator European Sub 23860 A=0.99996 G=0.00004
Allele Frequency Aggregator Other Sub 4558 A=1.0000 G=0.0000
Allele Frequency Aggregator African Sub 2314 A=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 628 A=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 500 A=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 108 A=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 94 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 10 NC_000010.11:g.95839726A>G
GRCh37.p13 chr 10 NC_000010.10:g.97599483A>G
ENTPD1 RefSeqGene NG_042803.1:g.132948A>G
Gene: ENTPD1, ectonucleoside triphosphate diphosphohydrolase 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ENTPD1 transcript variant 7 NM_001164183.2:c.-1-4750A…

NM_001164183.2:c.-1-4750A>G

 		N/A Intron Variant
ENTPD1 transcript variant 5 NM_001164181.1:c.-145= N/A 5 Prime UTR Variant
ENTPD1 transcript variant 8 NM_001312654.1:c.-145= N/A 5 Prime UTR Variant
ENTPD1 transcript variant 6 NM_001164182.2:c.-84= N/A 5 Prime UTR Variant
ENTPD1 transcript variant 3 NM_001164178.1:c.216A>G T [ACA] > T [ACG] Coding Sequence Variant
ectonucleoside triphosphate diphosphohydrolase 1 isoform 3 NP_001157650.1:p.Thr72= T (Thr) > T (Thr) Synonymous Variant
ENTPD1 transcript variant 9 NM_001320916.1:c.216A>G T [ACA] > T [ACG] Coding Sequence Variant
ectonucleoside triphosphate diphosphohydrolase 1 isoform 7 NP_001307845.1:p.Thr72= T (Thr) > T (Thr) Synonymous Variant
ENTPD1 transcript variant 1 NM_001776.6:c.180A>G T [ACA] > T [ACG] Coding Sequence Variant
ectonucleoside triphosphate diphosphohydrolase 1 isoform 1 NP_001767.3:p.Thr60= T (Thr) > T (Thr) Synonymous Variant
ENTPD1 transcript variant 4 NM_001164179.2:c.180A>G T [ACA] > T [ACG] Coding Sequence Variant
ectonucleoside triphosphate diphosphohydrolase 1 isoform 4 NP_001157651.1:p.Thr60= T (Thr) > T (Thr) Synonymous Variant
ENTPD1 transcript variant 2 NM_001098175.2:c.201A>G T [ACA] > T [ACG] Coding Sequence Variant
ectonucleoside triphosphate diphosphohydrolase 1 isoform 2 NP_001091645.1:p.Thr67= T (Thr) > T (Thr) Synonymous Variant
ENTPD1 transcript variant X1 XM_011540370.3:c.-145= N/A 5 Prime UTR Variant
ENTPD1 transcript variant X7 XM_011540372.3:c.-145= N/A 5 Prime UTR Variant
ENTPD1 transcript variant X8 XM_011540373.3:c.-145= N/A 5 Prime UTR Variant
ENTPD1 transcript variant X11 XM_011540374.4:c.-145= N/A 5 Prime UTR Variant
ENTPD1 transcript variant X14 XM_011540376.3:c.-145= N/A 5 Prime UTR Variant
ENTPD1 transcript variant X2 XM_047426023.1:c.201A>G T [ACA] > T [ACG] Coding Sequence Variant
ectonucleoside triphosphate diphosphohydrolase 1 isoform X2 XP_047281979.1:p.Thr67= T (Thr) > T (Thr) Synonymous Variant
ENTPD1 transcript variant X3 XM_047426024.1:c.201A>G T [ACA] > T [ACG] Coding Sequence Variant
ectonucleoside triphosphate diphosphohydrolase 1 isoform X2 XP_047281980.1:p.Thr67= T (Thr) > T (Thr) Synonymous Variant
ENTPD1 transcript variant X4 XM_047426025.1:c.201A>G T [ACA] > T [ACG] Coding Sequence Variant
ectonucleoside triphosphate diphosphohydrolase 1 isoform X2 XP_047281981.1:p.Thr67= T (Thr) > T (Thr) Synonymous Variant
ENTPD1 transcript variant X5 XM_011540371.3:c.201A>G T [ACA] > T [ACG] Coding Sequence Variant
ectonucleoside triphosphate diphosphohydrolase 1 isoform X2 XP_011538673.1:p.Thr67= T (Thr) > T (Thr) Synonymous Variant
ENTPD1 transcript variant X6 XM_047426026.1:c.201A>G T [ACA] > T [ACG] Coding Sequence Variant
ectonucleoside triphosphate diphosphohydrolase 1 isoform X2 XP_047281982.1:p.Thr67= T (Thr) > T (Thr) Synonymous Variant
ENTPD1 transcript variant X9 XM_047426027.1:c.216A>G T [ACA] > T [ACG] Coding Sequence Variant
ectonucleoside triphosphate diphosphohydrolase 1 isoform X5 XP_047281983.1:p.Thr72= T (Thr) > T (Thr) Synonymous Variant
ENTPD1 transcript variant X10 XM_017016958.3:c.180A>G T [ACA] > T [ACG] Coding Sequence Variant
ectonucleoside triphosphate diphosphohydrolase 1 isoform X6 XP_016872447.1:p.Thr60= T (Thr) > T (Thr) Synonymous Variant
ENTPD1 transcript variant X12 XM_047426028.1:c.216A>G T [ACA] > T [ACG] Coding Sequence Variant
ectonucleoside triphosphate diphosphohydrolase 1 isoform X8 XP_047281984.1:p.Thr72= T (Thr) > T (Thr) Synonymous Variant
ENTPD1 transcript variant X13 XM_047426029.1:c.180A>G T [ACA] > T [ACG] Coding Sequence Variant
ectonucleoside triphosphate diphosphohydrolase 1 isoform X9 XP_047281985.1:p.Thr60= T (Thr) > T (Thr) Synonymous Variant
ENTPD1 transcript variant X15 XM_017016963.2:c.216A>G T [ACA] > T [ACG] Coding Sequence Variant
ectonucleoside triphosphate diphosphohydrolase 1 isoform X11 XP_016872452.1:p.Thr72= T (Thr) > T (Thr) Synonymous Variant
ENTPD1 transcript variant X16 XM_017016964.3:c.180A>G T [ACA] > T [ACG] Coding Sequence Variant
ectonucleoside triphosphate diphosphohydrolase 1 isoform X12 XP_016872453.1:p.Thr60= T (Thr) > T (Thr) Synonymous Variant
Gene: ENTPD1-AS1, ENTPD1 antisense RNA 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ENTPD1-AS1 transcript variant 1 NR_038444.1:n. N/A Intron Variant
ENTPD1-AS1 transcript variant 2 NR_134320.1:n. N/A Genic Downstream Transcript Variant
ENTPD1-AS1 transcript variant 3 NR_134321.1:n. N/A Genic Downstream Transcript Variant
ENTPD1-AS1 transcript variant 4 NR_134322.1:n. N/A Genic Downstream 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 A= G
GRCh38.p14 chr 10 NC_000010.11:g.95839726= NC_000010.11:g.95839726A>G
GRCh37.p13 chr 10 NC_000010.10:g.97599483= NC_000010.10:g.97599483A>G
ENTPD1 RefSeqGene NG_042803.1:g.132948= NG_042803.1:g.132948A>G
ENTPD1 transcript variant 1 NM_001776.6:c.180= NM_001776.6:c.180A>G
ENTPD1 transcript variant 1 NM_001776.5:c.180= NM_001776.5:c.180A>G
ENTPD1 transcript variant 2 NM_001098175.2:c.201= NM_001098175.2:c.201A>G
ENTPD1 transcript variant 2 NM_001098175.1:c.201= NM_001098175.1:c.201A>G
ENTPD1 transcript variant 4 NM_001164179.2:c.180= NM_001164179.2:c.180A>G
ENTPD1 transcript variant 4 NM_001164179.1:c.180= NM_001164179.1:c.180A>G
ENTPD1 transcript variant 6 NM_001164182.2:c.-84= NM_001164182.2:c.-84A>G
ENTPD1 transcript variant 6 NM_001164182.1:c.-84= NM_001164182.1:c.-84A>G
ENTPD1 transcript variant 8 NM_001312654.1:c.-145= NM_001312654.1:c.-145A>G
ENTPD1 transcript variant 3 NM_001164178.1:c.216= NM_001164178.1:c.216A>G
ENTPD1 transcript variant 5 NM_001164181.1:c.-145= NM_001164181.1:c.-145A>G
ENTPD1 transcript variant 9 NM_001320916.1:c.216= NM_001320916.1:c.216A>G
ENTPD1 transcript variant X11 XM_011540374.4:c.-145= XM_011540374.4:c.-145A>G
ENTPD1 transcript variant X6 XM_011540374.3:c.237= XM_011540374.3:c.237A>G
ENTPD1 transcript variant X6 XM_011540374.2:c.237= XM_011540374.2:c.237A>G
ENTPD1 transcript variant X5 XM_011540374.1:c.-145= XM_011540374.1:c.-145A>G
ENTPD1 transcript variant X5 XM_011540371.3:c.201= XM_011540371.3:c.201A>G
ENTPD1 transcript variant X2 XM_011540371.2:c.201= XM_011540371.2:c.201A>G
ENTPD1 transcript variant X2 XM_011540371.1:c.201= XM_011540371.1:c.201A>G
ENTPD1 transcript variant X1 XM_011540370.3:c.-145= XM_011540370.3:c.-145A>G
ENTPD1 transcript variant X1 XM_011540370.2:c.237= XM_011540370.2:c.237A>G
ENTPD1 transcript variant X1 XM_011540370.1:c.-145= XM_011540370.1:c.-145A>G
ENTPD1 transcript variant X14 XM_011540376.3:c.-145= XM_011540376.3:c.-145A>G
ENTPD1 transcript variant X7 XM_011540376.2:c.237= XM_011540376.2:c.237A>G
ENTPD1 transcript variant X7 XM_011540376.1:c.-145= XM_011540376.1:c.-145A>G
ENTPD1 transcript variant X10 XM_017016958.3:c.180= XM_017016958.3:c.180A>G
ENTPD1 transcript variant X5 XM_017016958.2:c.180= XM_017016958.2:c.180A>G
ENTPD1 transcript variant X5 XM_017016958.1:c.180= XM_017016958.1:c.180A>G
ENTPD1 transcript variant X7 XM_011540372.3:c.-145= XM_011540372.3:c.-145A>G
ENTPD1 transcript variant X3 XM_011540372.2:c.237= XM_011540372.2:c.237A>G
ENTPD1 transcript variant X3 XM_011540372.1:c.-145= XM_011540372.1:c.-145A>G
ENTPD1 transcript variant X8 XM_011540373.3:c.-145= XM_011540373.3:c.-145A>G
ENTPD1 transcript variant X4 XM_011540373.2:c.237= XM_011540373.2:c.237A>G
ENTPD1 transcript variant X4 XM_011540373.1:c.-145= XM_011540373.1:c.-145A>G
ENTPD1 transcript variant X16 XM_017016964.3:c.180= XM_017016964.3:c.180A>G
ENTPD1 transcript variant X14 XM_017016964.2:c.180= XM_017016964.2:c.180A>G
ENTPD1 transcript variant X14 XM_017016964.1:c.180= XM_017016964.1:c.180A>G
ENTPD1 transcript variant X15 XM_017016963.2:c.216= XM_017016963.2:c.216A>G
ENTPD1 transcript variant X13 XM_017016963.1:c.216= XM_017016963.1:c.216A>G
ENTPD1 transcript variant X2 XM_047426023.1:c.201= XM_047426023.1:c.201A>G
ENTPD1 transcript variant X6 XM_047426026.1:c.201= XM_047426026.1:c.201A>G
ENTPD1 transcript variant X3 XM_047426024.1:c.201= XM_047426024.1:c.201A>G
ENTPD1 transcript variant X4 XM_047426025.1:c.201= XM_047426025.1:c.201A>G
ENTPD1 transcript variant X9 XM_047426027.1:c.216= XM_047426027.1:c.216A>G
ENTPD1 transcript variant X12 XM_047426028.1:c.216= XM_047426028.1:c.216A>G
ENTPD1 transcript variant X13 XM_047426029.1:c.180= XM_047426029.1:c.180A>G
ectonucleoside triphosphate diphosphohydrolase 1 isoform 1 NP_001767.3:p.Thr60= NP_001767.3:p.Thr60=
ectonucleoside triphosphate diphosphohydrolase 1 isoform 2 NP_001091645.1:p.Thr67= NP_001091645.1:p.Thr67=
ectonucleoside triphosphate diphosphohydrolase 1 isoform 4 NP_001157651.1:p.Thr60= NP_001157651.1:p.Thr60=
ectonucleoside triphosphate diphosphohydrolase 1 isoform 3 NP_001157650.1:p.Thr72= NP_001157650.1:p.Thr72=
ectonucleoside triphosphate diphosphohydrolase 1 isoform 7 NP_001307845.1:p.Thr72= NP_001307845.1:p.Thr72=
ectonucleoside triphosphate diphosphohydrolase 1 isoform X2 XP_011538673.1:p.Thr67= XP_011538673.1:p.Thr67=
ectonucleoside triphosphate diphosphohydrolase 1 isoform X6 XP_016872447.1:p.Thr60= XP_016872447.1:p.Thr60=
ectonucleoside triphosphate diphosphohydrolase 1 isoform X12 XP_016872453.1:p.Thr60= XP_016872453.1:p.Thr60=
ectonucleoside triphosphate diphosphohydrolase 1 isoform X11 XP_016872452.1:p.Thr72= XP_016872452.1:p.Thr72=
ectonucleoside triphosphate diphosphohydrolase 1 isoform X2 XP_047281979.1:p.Thr67= XP_047281979.1:p.Thr67=
ectonucleoside triphosphate diphosphohydrolase 1 isoform X2 XP_047281982.1:p.Thr67= XP_047281982.1:p.Thr67=
ectonucleoside triphosphate diphosphohydrolase 1 isoform X2 XP_047281980.1:p.Thr67= XP_047281980.1:p.Thr67=
ectonucleoside triphosphate diphosphohydrolase 1 isoform X2 XP_047281981.1:p.Thr67= XP_047281981.1:p.Thr67=
ectonucleoside triphosphate diphosphohydrolase 1 isoform X5 XP_047281983.1:p.Thr72= XP_047281983.1:p.Thr72=
ectonucleoside triphosphate diphosphohydrolase 1 isoform X8 XP_047281984.1:p.Thr72= XP_047281984.1:p.Thr72=
ectonucleoside triphosphate diphosphohydrolase 1 isoform X9 XP_047281985.1:p.Thr60= XP_047281985.1:p.Thr60=
ENTPD1 transcript variant 7 NM_001164183.1:c.-1-4750= NM_001164183.1:c.-1-4750A>G
ENTPD1 transcript variant 7 NM_001164183.2:c.-1-4750= NM_001164183.2:c.-1-4750A>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 ss2738427971 Nov 08, 2017 (151)
2 TOPMED ss4862895948 Apr 26, 2021 (155)
3 gnomAD - Exomes NC_000010.10 - 97599483 Jul 13, 2019 (153)
4 TopMed NC_000010.11 - 95839726 Apr 26, 2021 (155)
5 ALFA NC_000010.11 - 95839726 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
7628290, ss2738427971 NC_000010.10:97599482:A:G NC_000010.11:95839725:A:G (self)
78441603, 7530292446, ss4862895948 NC_000010.11:95839725:A:G NC_000010.11:95839725: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 rs1418647067

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