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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.

rs3208363

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr7:99767175 (GRCh38.p13) 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>C / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000004 (1/264690, TOPMED)
C=0.000000 (0/167192, ALFA)
T=0.000000 (0/167192, ALFA) (+ 1 more)
C=0.000 (0/326, HapMap)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CYP3A4 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 7 NC_000007.14:g.99767175A>C
GRCh38.p13 chr 7 NC_000007.14:g.99767175A>T
GRCh37.p13 chr 7 NC_000007.13:g.99364798A>C
GRCh37.p13 chr 7 NC_000007.13:g.99364798A>T
CYP3A4 RefSeqGene NG_008421.1:g.22011T>G
CYP3A4 RefSeqGene NG_008421.1:g.22011T>A
Gene: CYP3A4, cytochrome P450 family 3 subfamily A member 4 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CYP3A4 transcript variant 1 NM_017460.6:c.754T>G S [TCT] > A [GCT] Coding Sequence Variant
cytochrome P450 3A4 isoform 1 NP_059488.2:p.Ser252Ala S (Ser) > A (Ala) Missense Variant
CYP3A4 transcript variant 1 NM_017460.6:c.754T>A S [TCT] > T [ACT] Coding Sequence Variant
cytochrome P450 3A4 isoform 1 NP_059488.2:p.Ser252Thr S (Ser) > T (Thr) Missense Variant
CYP3A4 transcript variant 2 NM_001202855.3:c.751T>G S [TCT] > A [GCT] Coding Sequence Variant
cytochrome P450 3A4 isoform 2 NP_001189784.1:p.Ser251Ala S (Ser) > A (Ala) Missense Variant
CYP3A4 transcript variant 2 NM_001202855.3:c.751T>A S [TCT] > T [ACT] Coding Sequence Variant
cytochrome P450 3A4 isoform 2 NP_001189784.1:p.Ser251Thr S (Ser) > T (Thr) 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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 167192 A=1.000000 C=0.000000, T=0.000000
European Sub 144404 A=1.000000 C=0.000000, T=0.000000
African Sub 7074 A=1.0000 C=0.0000, T=0.0000
African Others Sub 302 A=1.000 C=0.000, T=0.000
African American Sub 6772 A=1.0000 C=0.0000, T=0.0000
Asian Sub 3784 A=1.0000 C=0.0000, T=0.0000
East Asian Sub 3062 A=1.0000 C=0.0000, T=0.0000
Other Asian Sub 722 A=1.000 C=0.000, T=0.000
Latin American 1 Sub 964 A=1.000 C=0.000, T=0.000
Latin American 2 Sub 2508 A=1.0000 C=0.0000, T=0.0000
South Asian Sub 5192 A=1.0000 C=0.0000, T=0.0000
Other Sub 3266 A=1.0000 C=0.0000, 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 A=0.999996 T=0.000004
HapMap Global Study-wide 326 A=1.000 C=0.000
HapMap American Sub 120 A=1.000 C=0.000
HapMap African Sub 118 A=1.000 C=0.000
HapMap Asian Sub 88 A=1.00 C=0.00
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= C T
GRCh38.p13 chr 7 NC_000007.14:g.99767175= NC_000007.14:g.99767175A>C NC_000007.14:g.99767175A>T
GRCh37.p13 chr 7 NC_000007.13:g.99364798= NC_000007.13:g.99364798A>C NC_000007.13:g.99364798A>T
CYP3A4 RefSeqGene NG_008421.1:g.22011= NG_008421.1:g.22011T>G NG_008421.1:g.22011T>A
CYP3A4 transcript variant 1 NM_017460.6:c.754= NM_017460.6:c.754T>G NM_017460.6:c.754T>A
CYP3A4 transcript variant 1 NM_017460.5:c.754= NM_017460.5:c.754T>G NM_017460.5:c.754T>A
CYP3A4 transcript variant 2 NM_001202855.3:c.751= NM_001202855.3:c.751T>G NM_001202855.3:c.751T>A
CYP3A4 transcript variant 2 NM_001202855.2:c.751= NM_001202855.2:c.751T>G NM_001202855.2:c.751T>A
CYP3A4 transcript variant 3 NM_001202856.1:c.607= NM_001202856.1:c.607T>G NM_001202856.1:c.607T>A
CYP3A4 transcript variant 4 NM_001202857.1:c.304= NM_001202857.1:c.304T>G NM_001202857.1:c.304T>A
Protein-coding transcripts NM_000776.1:c.754G>T NM_000776.1:c.754= NM_000776.1:c.754G>A
cytochrome P450 3A4 isoform 1 NP_059488.2:p.Ser252= NP_059488.2:p.Ser252Ala NP_059488.2:p.Ser252Thr
cytochrome P450 3A4 isoform 2 NP_001189784.1:p.Ser251= NP_001189784.1:p.Ser251Ala NP_001189784.1:p.Ser251Thr
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#.

36 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 LEE ss4438758 May 29, 2002 (105)
2 SNP500CANCER ss12675384 Nov 17, 2003 (118)
3 ILLUMINA ss74899118 Dec 07, 2007 (129)
4 KRIBB_YJKIM ss119456218 Dec 01, 2009 (131)
5 ILLUMINA ss154256796 Dec 01, 2009 (131)
6 ILLUMINA ss159433348 Dec 01, 2009 (131)
7 ILLUMINA ss160616026 Dec 01, 2009 (131)
8 ILLUMINA ss173574191 Jul 04, 2010 (132)
9 ILLUMINA ss480767645 May 04, 2012 (137)
10 ILLUMINA ss480783459 May 04, 2012 (137)
11 ILLUMINA ss481678606 Sep 08, 2015 (146)
12 ILLUMINA ss485178549 May 04, 2012 (137)
13 GOLDSTEINLAB ss507877558 May 04, 2012 (137)
14 ILLUMINA ss537167808 Sep 08, 2015 (146)
15 ILLUMINA ss778889806 Sep 08, 2015 (146)
16 ILLUMINA ss783035447 Sep 08, 2015 (146)
17 ILLUMINA ss783994997 Sep 08, 2015 (146)
18 ILLUMINA ss832293108 Sep 08, 2015 (146)
19 ILLUMINA ss832944946 Jul 13, 2019 (153)
20 ILLUMINA ss834350903 Sep 08, 2015 (146)
21 ILLUMINA ss2634638386 Nov 08, 2017 (151)
22 ILLUMINA ss2635175229 Nov 08, 2017 (151)
23 ILLUMINA ss2711117398 Nov 08, 2017 (151)
24 ILLUMINA ss3022760847 Nov 08, 2017 (151)
25 TOPMED ss3539027422 Nov 08, 2017 (151)
26 ILLUMINA ss3625934084 Oct 12, 2018 (152)
27 ILLUMINA ss3629873189 Oct 12, 2018 (152)
28 ILLUMINA ss3632543978 Oct 12, 2018 (152)
29 ILLUMINA ss3633472174 Oct 12, 2018 (152)
30 ILLUMINA ss3634197528 Oct 12, 2018 (152)
31 ILLUMINA ss3636867441 Oct 12, 2018 (152)
32 ILLUMINA ss3638713175 Oct 12, 2018 (152)
33 ILLUMINA ss3643647748 Oct 12, 2018 (152)
34 ILLUMINA ss3653294869 Oct 12, 2018 (152)
35 ILLUMINA ss3726465392 Jul 13, 2019 (153)
36 TOPMED ss4756587678 Apr 26, 2021 (155)
37 HapMap NC_000007.14 - 99767175 Apr 26, 2020 (154)
38 TopMed NC_000007.14 - 99767175 Apr 26, 2021 (155)
39 ALFA NC_000007.14 - 99767175 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).

Associated ID History Updated (Build)
rs386580793 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss160616026, ss480767645, ss2635175229, ss3643647748 NC_000007.12:99202733:A:C NC_000007.14:99767174:A:C (self)
ss480783459, ss481678606, ss485178549, ss537167808, ss778889806, ss783035447, ss783994997, ss832293108, ss832944946, ss834350903, ss2634638386, ss2711117398, ss3022760847, ss3625934084, ss3629873189, ss3632543978, ss3633472174, ss3634197528, ss3636867441, ss3638713175, ss3653294869 NC_000007.13:99364797:A:C NC_000007.14:99767174:A:C (self)
3455408, 5622938242, ss3726465392 NC_000007.14:99767174:A:C NC_000007.14:99767174:A:C (self)
ss4438758, ss12675384, ss74899118, ss119456218, ss154256796, ss159433348, ss173574191 NT_007933.15:37397640:A:C NC_000007.14:99767174:A:C (self)
ss507877558 NC_000007.12:99202733:A:T NC_000007.14:99767174:A:T (self)
371463939, 593965237, 5622938242, ss3539027422, ss4756587678 NC_000007.14:99767174:A:T NC_000007.14:99767174:A: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 rs3208363

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.post596+ae089ad