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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.

rs28371735

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr22:42126636 (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
G>A / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000020 (3/151238, ALFA)
T=0.000009 (1/109190, ExAC)
A=0.00005 (4/78574, PAGE_STUDY)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CYP2D6 : 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 151238 G=0.999980 A=0.000020 0.99996 0.0 4e-05 0
European Sub 142288 G=0.999993 A=0.000007 0.999986 0.0 0.000014 0
African Sub 1840 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Others Sub 72 G=1.00 A=0.00 1.0 0.0 0.0 N/A
African American Sub 1768 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
Asian Sub 3500 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
East Asian Sub 2866 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
Other Asian Sub 634 G=1.000 A=0.000 1.0 0.0 0.0 N/A
Latin American 1 Sub 346 G=1.000 A=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 584 G=1.000 A=0.000 1.0 0.0 0.0 N/A
South Asian Sub 210 G=1.000 A=0.000 1.0 0.0 0.0 N/A
Other Sub 2470 G=0.9992 A=0.0008 0.998381 0.0 0.001619 0


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
Allele Frequency Aggregator Total Global 151238 G=0.999980 A=0.000020
Allele Frequency Aggregator European Sub 142288 G=0.999993 A=0.000007
Allele Frequency Aggregator Asian Sub 3500 G=1.0000 A=0.0000
Allele Frequency Aggregator Other Sub 2470 G=0.9992 A=0.0008
Allele Frequency Aggregator African Sub 1840 G=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 584 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 346 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 210 G=1.000 A=0.000
ExAC Global Study-wide 109190 G=0.999991 T=0.000009
ExAC Europe Sub 66508 G=0.99998 T=0.00002
ExAC Asian Sub 22738 G=1.00000 T=0.00000
ExAC American Sub 10260 G=1.00000 T=0.00000
ExAC African Sub 8882 G=1.0000 T=0.0000
ExAC Other Sub 802 G=1.000 T=0.000
The PAGE Study Global Study-wide 78574 G=0.99995 A=0.00005
The PAGE Study AfricanAmerican Sub 32450 G=0.99994 A=0.00006
The PAGE Study Mexican Sub 10800 G=0.99991 A=0.00009
The PAGE Study Asian Sub 8294 G=0.9999 A=0.0001
The PAGE Study PuertoRican Sub 7908 G=1.0000 A=0.0000
The PAGE Study NativeHawaiian Sub 4532 G=1.0000 A=0.0000
The PAGE Study Cuban Sub 4228 G=1.0000 A=0.0000
The PAGE Study Dominican Sub 3822 G=1.0000 A=0.0000
The PAGE Study CentralAmerican Sub 2448 G=1.0000 A=0.0000
The PAGE Study SouthAmerican Sub 1978 G=1.0000 A=0.0000
The PAGE Study NativeAmerican Sub 1260 G=1.0000 A=0.0000
The PAGE Study SouthAsian Sub 854 G=1.000 A=0.000
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 22 NC_000022.11:g.42126636G>A
GRCh38.p14 chr 22 NC_000022.11:g.42126636G>T
gene/pseudogene RefSeqGene (LRG_303) NG_008376.4:g.9175C>T
gene/pseudogene RefSeqGene (LRG_303) NG_008376.4:g.9175C>A
GRCh38.p14 chr 22 novel patch HSCHR22_8_CTG1 NW_015148968.1:g.4377G>A
GRCh38.p14 chr 22 novel patch HSCHR22_8_CTG1 NW_015148968.1:g.4377G>T
GRCh38.p14 chr 22 novel patch HSCHR22_7_CTG1 NW_014040931.1:g.20225G>A
GRCh38.p14 chr 22 novel patch HSCHR22_7_CTG1 NW_014040931.1:g.20225G>T
GRCh38.p14 chr 22 novel patch HSCHR22_5_CTG1 NW_009646208.1:g.12202G>A
GRCh38.p14 chr 22 novel patch HSCHR22_5_CTG1 NW_009646208.1:g.12202G>T
GRCh38.p14 chr 22 alt locus HSCHR22_2_CTG1 NW_004504305.1:g.48963G>A
GRCh38.p14 chr 22 alt locus HSCHR22_2_CTG1 NW_004504305.1:g.48963G>T
GRCh38.p14 chr 22 alt locus HSCHR22_3_CTG1 NT_187682.1:g.48977G>A
GRCh38.p14 chr 22 alt locus HSCHR22_3_CTG1 NT_187682.1:g.48977G>T
GRCh37.p13 chr 22 NC_000022.10:g.42522638G>A
GRCh37.p13 chr 22 NC_000022.10:g.42522638G>T
Gene: CYP2D6, cytochrome P450 family 2 subfamily D member 6 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CYP2D6 transcript variant 1 NM_000106.6:c.1432C>T H [CAT] > Y [TAT] Coding Sequence Variant
cytochrome P450 2D6 isoform 1 NP_000097.3:p.His478Tyr H (His) > Y (Tyr) Missense Variant
CYP2D6 transcript variant 1 NM_000106.6:c.1432C>A H [CAT] > N [AAT] Coding Sequence Variant
cytochrome P450 2D6 isoform 1 NP_000097.3:p.His478Asn H (His) > N (Asn) Missense Variant
CYP2D6 transcript variant 2 NM_001025161.3:c.1279C>T H [CAT] > Y [TAT] Coding Sequence Variant
cytochrome P450 2D6 isoform 2 NP_001020332.2:p.His427Tyr H (His) > Y (Tyr) Missense Variant
CYP2D6 transcript variant 2 NM_001025161.3:c.1279C>A H [CAT] > N [AAT] Coding Sequence Variant
cytochrome P450 2D6 isoform 2 NP_001020332.2:p.His427Asn H (His) > N (Asn) 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 G= A T
GRCh38.p14 chr 22 NC_000022.11:g.42126636= NC_000022.11:g.42126636G>A NC_000022.11:g.42126636G>T
gene/pseudogene RefSeqGene (LRG_303) NG_008376.4:g.9175= NG_008376.4:g.9175C>T NG_008376.4:g.9175C>A
CYP2D6 transcript variant 1 NM_000106.6:c.1432= NM_000106.6:c.1432C>T NM_000106.6:c.1432C>A
CYP2D6 transcript variant 1 NM_000106.5:c.1432= NM_000106.5:c.1432C>T NM_000106.5:c.1432C>A
CYP2D6 transcript variant 2 NM_001025161.3:c.1279= NM_001025161.3:c.1279C>T NM_001025161.3:c.1279C>A
CYP2D6 transcript variant 2 NM_001025161.2:c.1279= NM_001025161.2:c.1279C>T NM_001025161.2:c.1279C>A
GRCh38.p14 chr 22 novel patch HSCHR22_8_CTG1 NW_015148968.1:g.4377= NW_015148968.1:g.4377G>A NW_015148968.1:g.4377G>T
GRCh38.p14 chr 22 novel patch HSCHR22_7_CTG1 NW_014040931.1:g.20225= NW_014040931.1:g.20225G>A NW_014040931.1:g.20225G>T
GRCh38.p14 chr 22 novel patch HSCHR22_5_CTG1 NW_009646208.1:g.12202= NW_009646208.1:g.12202G>A NW_009646208.1:g.12202G>T
GRCh38.p14 chr 22 alt locus HSCHR22_2_CTG1 NW_004504305.1:g.48963= NW_004504305.1:g.48963G>A NW_004504305.1:g.48963G>T
GRCh38.p14 chr 22 alt locus HSCHR22_3_CTG1 NT_187682.1:g.48977= NT_187682.1:g.48977G>A NT_187682.1:g.48977G>T
GRCh37.p13 chr 22 NC_000022.10:g.42522638= NC_000022.10:g.42522638G>A NC_000022.10:g.42522638G>T
cytochrome P450 2D6 isoform 1 NP_000097.3:p.His478= NP_000097.3:p.His478Tyr NP_000097.3:p.His478Asn
cytochrome P450 2D6 isoform 2 NP_001020332.2:p.His427= NP_001020332.2:p.His427Tyr NP_001020332.2:p.His427Asn
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#.

42 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 BIOVENTURES ss32476074 May 24, 2005 (125)
2 EGP_SNPS ss159831328 Dec 01, 2009 (131)
3 ILLUMINA ss160586168 Dec 01, 2009 (131)
4 ILLUMINA ss480685467 May 04, 2012 (137)
5 ILLUMINA ss480700973 May 04, 2012 (137)
6 ILLUMINA ss481558935 Sep 08, 2015 (146)
7 ILLUMINA ss485137563 May 04, 2012 (137)
8 ILLUMINA ss537134806 Sep 08, 2015 (146)
9 ILLUMINA ss778881334 Aug 21, 2014 (142)
10 ILLUMINA ss783015082 Aug 21, 2014 (142)
11 ILLUMINA ss783975251 Aug 21, 2014 (142)
12 ILLUMINA ss832272513 Apr 01, 2015 (144)
13 ILLUMINA ss834342341 Aug 21, 2014 (142)
14 EVA_EXAC ss1694378905 Apr 01, 2015 (144)
15 ILLUMINA ss1752423251 Sep 08, 2015 (146)
16 ILLUMINA ss1946595193 Feb 12, 2016 (147)
17 ILLUMINA ss1959984030 Feb 12, 2016 (147)
18 ILLUMINA ss2633883893 Nov 08, 2017 (151)
19 ILLUMINA ss2633883894 Nov 08, 2017 (151)
20 ILLUMINA ss2710959457 Nov 08, 2017 (151)
21 ILLUMINA ss3022190883 Nov 08, 2017 (151)
22 ILLUMINA ss3625804271 Oct 12, 2018 (152)
23 ILLUMINA ss3628544559 Oct 12, 2018 (152)
24 ILLUMINA ss3631834517 Oct 12, 2018 (152)
25 ILLUMINA ss3633274587 Oct 12, 2018 (152)
26 ILLUMINA ss3633990510 Oct 12, 2018 (152)
27 ILLUMINA ss3634870358 Oct 12, 2018 (152)
28 ILLUMINA ss3635674919 Oct 12, 2018 (152)
29 ILLUMINA ss3636565842 Oct 12, 2018 (152)
30 ILLUMINA ss3637427167 Oct 12, 2018 (152)
31 ILLUMINA ss3640577661 Oct 12, 2018 (152)
32 ILLUMINA ss3644802016 Oct 12, 2018 (152)
33 ILLUMINA ss3652655235 Oct 12, 2018 (152)
34 ILLUMINA ss3725972585 Jul 13, 2019 (153)
35 ILLUMINA ss3744207431 Jul 13, 2019 (153)
36 ILLUMINA ss3745170202 Jul 13, 2019 (153)
37 PAGE_CC ss3772094750 Jul 13, 2019 (153)
38 ILLUMINA ss3772666065 Jul 13, 2019 (153)
39 EVA ss4017883193 Apr 26, 2021 (155)
40 EVA ss5847946422 Oct 16, 2022 (156)
41 EVA ss5936464301 Oct 16, 2022 (156)
42 EVA ss5959434875 Oct 16, 2022 (156)
43 ExAC NC_000022.10 - 42522638 Oct 12, 2018 (152)
44 The PAGE Study NC_000022.11 - 42126636 Jul 13, 2019 (153)
45 ALFA NC_000022.11 - 42126636 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)
rs386574774 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss480685467 NC_000022.9:40852581:G:A NC_000022.11:42126635:G:A (self)
ss480700973, ss481558935, ss485137563, ss537134806, ss778881334, ss783015082, ss783975251, ss832272513, ss834342341, ss1752423251, ss1946595193, ss1959984030, ss2633883893, ss2633883894, ss2710959457, ss3022190883, ss3625804271, ss3628544559, ss3631834517, ss3633274587, ss3633990510, ss3634870358, ss3635674919, ss3636565842, ss3637427167, ss3640577661, ss3644802016, ss3652655235, ss3744207431, ss3745170202, ss3772666065, ss4017883193, ss5847946422, ss5936464301, ss5959434875 NC_000022.10:42522637:G:A NC_000022.11:42126635:G:A (self)
1316219, 6762158116, ss3725972585, ss3772094750 NC_000022.11:42126635:G:A NC_000022.11:42126635:G:A (self)
ss32476074, ss159831328, ss160586168 NT_011520.12:21913206:G:A NC_000022.11:42126635:G:A (self)
5962174, ss1694378905 NC_000022.10:42522637:G:T NC_000022.11:42126635:G: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 rs28371735

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.post825+45319f0