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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.

rs73482406

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr18:74261168 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.039439 (10439/264690, TOPMED)
A=0.036810 (5159/140154, GnomAD)
A=0.05459 (4296/78698, PAGE_STUDY) (+ 14 more)
A=0.00219 (62/28258, 14KJPN)
A=0.02380 (461/19372, ALFA)
A=0.00221 (37/16760, 8.3KJPN)
A=0.0492 (315/6404, 1000G_30x)
A=0.0491 (246/5008, 1000G)
A=0.0031 (14/4480, Estonian)
A=0.0057 (22/3854, ALSPAC)
A=0.0049 (18/3708, TWINSUK)
A=0.0027 (8/2922, KOREAN)
A=0.0049 (9/1832, Korea1K)
A=0.002 (2/998, GoNL)
A=0.003 (2/600, NorthernSweden)
A=0.019 (4/216, Qatari)
G=0.37 (14/38, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CYB5A : 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 19372 G=0.97620 A=0.02380
European Sub 14364 G=0.99478 A=0.00522
African Sub 2978 G=0.8842 A=0.1158
African Others Sub 114 G=0.833 A=0.167
African American Sub 2864 G=0.8862 A=0.1138
Asian Sub 150 G=0.993 A=0.007
East Asian Sub 122 G=0.992 A=0.008
Other Asian Sub 28 G=1.00 A=0.00
Latin American 1 Sub 154 G=0.968 A=0.032
Latin American 2 Sub 616 G=0.990 A=0.010
South Asian Sub 104 G=0.952 A=0.048
Other Sub 1006 G=0.9761 A=0.0239


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 G=0.960561 A=0.039439
gnomAD - Genomes Global Study-wide 140154 G=0.963190 A=0.036810
gnomAD - Genomes European Sub 75924 G=0.99561 A=0.00439
gnomAD - Genomes African Sub 41982 G=0.89415 A=0.10585
gnomAD - Genomes American Sub 13640 G=0.98130 A=0.01870
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.9901 A=0.0099
gnomAD - Genomes East Asian Sub 3130 G=0.9974 A=0.0026
gnomAD - Genomes Other Sub 2154 G=0.9601 A=0.0399
The PAGE Study Global Study-wide 78698 G=0.94541 A=0.05459
The PAGE Study AfricanAmerican Sub 32516 G=0.89697 A=0.10303
The PAGE Study Mexican Sub 10808 G=0.99038 A=0.00962
The PAGE Study Asian Sub 8318 G=0.9976 A=0.0024
The PAGE Study PuertoRican Sub 7918 G=0.9590 A=0.0410
The PAGE Study NativeHawaiian Sub 4534 G=0.9943 A=0.0057
The PAGE Study Cuban Sub 4230 G=0.9773 A=0.0227
The PAGE Study Dominican Sub 3826 G=0.9401 A=0.0599
The PAGE Study CentralAmerican Sub 2450 G=0.9788 A=0.0212
The PAGE Study SouthAmerican Sub 1982 G=0.9849 A=0.0151
The PAGE Study NativeAmerican Sub 1260 G=0.9786 A=0.0214
The PAGE Study SouthAsian Sub 856 G=0.957 A=0.043
14KJPN JAPANESE Study-wide 28258 G=0.99781 A=0.00219
Allele Frequency Aggregator Total Global 19372 G=0.97620 A=0.02380
Allele Frequency Aggregator European Sub 14364 G=0.99478 A=0.00522
Allele Frequency Aggregator African Sub 2978 G=0.8842 A=0.1158
Allele Frequency Aggregator Other Sub 1006 G=0.9761 A=0.0239
Allele Frequency Aggregator Latin American 2 Sub 616 G=0.990 A=0.010
Allele Frequency Aggregator Latin American 1 Sub 154 G=0.968 A=0.032
Allele Frequency Aggregator Asian Sub 150 G=0.993 A=0.007
Allele Frequency Aggregator South Asian Sub 104 G=0.952 A=0.048
8.3KJPN JAPANESE Study-wide 16760 G=0.99779 A=0.00221
1000Genomes_30x Global Study-wide 6404 G=0.9508 A=0.0492
1000Genomes_30x African Sub 1786 G=0.8679 A=0.1321
1000Genomes_30x Europe Sub 1266 G=0.9913 A=0.0087
1000Genomes_30x South Asian Sub 1202 G=0.9626 A=0.0374
1000Genomes_30x East Asian Sub 1170 G=0.9940 A=0.0060
1000Genomes_30x American Sub 980 G=0.984 A=0.016
1000Genomes Global Study-wide 5008 G=0.9509 A=0.0491
1000Genomes African Sub 1322 G=0.8638 A=0.1362
1000Genomes East Asian Sub 1008 G=0.9940 A=0.0060
1000Genomes Europe Sub 1006 G=0.9940 A=0.0060
1000Genomes South Asian Sub 978 G=0.961 A=0.039
1000Genomes American Sub 694 G=0.977 A=0.023
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9969 A=0.0031
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9943 A=0.0057
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9951 A=0.0049
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9973 A=0.0027
Korean Genome Project KOREAN Study-wide 1832 G=0.9951 A=0.0049
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.998 A=0.002
Northern Sweden ACPOP Study-wide 600 G=0.997 A=0.003
Qatari Global Study-wide 216 G=0.981 A=0.019
SGDP_PRJ Global Study-wide 38 G=0.37 A=0.63
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 18 NC_000018.10:g.74261168G>A
GRCh37.p13 chr 18 NC_000018.9:g.71928403G>A
CYB5A RefSeqGene NG_023211.1:g.35819C>T
Gene: CYB5A, cytochrome b5 type A (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CYB5A transcript variant 3 NM_001190807.3:c.258+2181…

NM_001190807.3:c.258+2181C>T

 		N/A Intron Variant
CYB5A transcript variant 2 NM_001914.4:c.259-224C>T N/A Intron Variant
CYB5A transcript variant 1 NM_148923.4:c.259-224C>T N/A Intron Variant
CYB5A transcript variant X1 XM_011525835.3:c.259-224C…

XM_011525835.3:c.259-224C>T

 		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 G= A
GRCh38.p14 chr 18 NC_000018.10:g.74261168= NC_000018.10:g.74261168G>A
GRCh37.p13 chr 18 NC_000018.9:g.71928403= NC_000018.9:g.71928403G>A
CYB5A RefSeqGene NG_023211.1:g.35819= NG_023211.1:g.35819C>T
CYB5A transcript variant 3 NM_001190807.2:c.258+2181= NM_001190807.2:c.258+2181C>T
CYB5A transcript variant 3 NM_001190807.3:c.258+2181= NM_001190807.3:c.258+2181C>T
CYB5A transcript variant 2 NM_001914.3:c.259-224= NM_001914.3:c.259-224C>T
CYB5A transcript variant 2 NM_001914.4:c.259-224= NM_001914.4:c.259-224C>T
CYB5A transcript variant 1 NM_148923.3:c.259-224= NM_148923.3:c.259-224C>T
CYB5A transcript variant 1 NM_148923.4:c.259-224= NM_148923.4:c.259-224C>T
CYB5A transcript variant X1 XM_011525835.3:c.259-224= XM_011525835.3:c.259-224C>T
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#.

51 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss114649535 Feb 14, 2009 (130)
2 COMPLETE_GENOMICS ss170317595 Jul 04, 2010 (132)
3 BUSHMAN ss203500349 Jul 04, 2010 (132)
4 1000GENOMES ss227971093 Jul 14, 2010 (132)
5 ILLUMINA ss534930542 Sep 08, 2015 (146)
6 TISHKOFF ss565765622 Apr 25, 2013 (138)
7 SSMP ss661609505 Apr 25, 2013 (138)
8 EVA-GONL ss993939913 Aug 21, 2014 (142)
9 JMKIDD_LAB ss1081661754 Aug 21, 2014 (142)
10 1000GENOMES ss1361800857 Aug 21, 2014 (142)
11 EVA_UK10K_ALSPAC ss1637296742 Apr 01, 2015 (144)
12 EVA_UK10K_TWINSUK ss1680290775 Apr 01, 2015 (144)
13 EVA_DECODE ss1698004484 Apr 01, 2015 (144)
14 HAMMER_LAB ss1809142423 Sep 08, 2015 (146)
15 WEILL_CORNELL_DGM ss1937408733 Feb 12, 2016 (147)
16 ILLUMINA ss1959819273 Feb 12, 2016 (147)
17 HUMAN_LONGEVITY ss2223176803 Dec 20, 2016 (150)
18 GNOMAD ss2958854931 Nov 08, 2017 (151)
19 AFFY ss2985761301 Nov 08, 2017 (151)
20 SWEGEN ss3016845126 Nov 08, 2017 (151)
21 ILLUMINA ss3021859667 Nov 08, 2017 (151)
22 ILLUMINA ss3627854705 Oct 12, 2018 (152)
23 ILLUMINA ss3652283063 Oct 12, 2018 (152)
24 EGCUT_WGS ss3683700972 Jul 13, 2019 (153)
25 EVA_DECODE ss3702048120 Jul 13, 2019 (153)
26 ILLUMINA ss3725691733 Jul 13, 2019 (153)
27 ACPOP ss3742723907 Jul 13, 2019 (153)
28 EVA ss3755635725 Jul 13, 2019 (153)
29 PAGE_CC ss3771983830 Jul 13, 2019 (153)
30 KHV_HUMAN_GENOMES ss3820893977 Jul 13, 2019 (153)
31 SGDP_PRJ ss3887430739 Apr 27, 2020 (154)
32 KRGDB ss3937334243 Apr 27, 2020 (154)
33 KOGIC ss3980516448 Apr 27, 2020 (154)
34 TOPMED ss5063474414 Apr 26, 2021 (155)
35 TOMMO_GENOMICS ss5226036374 Apr 26, 2021 (155)
36 EVA ss5237590549 Apr 26, 2021 (155)
37 1000G_HIGH_COVERAGE ss5305972858 Oct 16, 2022 (156)
38 EVA ss5432665424 Oct 16, 2022 (156)
39 HUGCELL_USP ss5498680046 Oct 16, 2022 (156)
40 1000G_HIGH_COVERAGE ss5611166687 Oct 16, 2022 (156)
41 SANFORD_IMAGENETICS ss5624419642 Oct 16, 2022 (156)
42 SANFORD_IMAGENETICS ss5661690520 Oct 16, 2022 (156)
43 TOMMO_GENOMICS ss5784071850 Oct 16, 2022 (156)
44 YY_MCH ss5817274036 Oct 16, 2022 (156)
45 EVA ss5827818544 Oct 16, 2022 (156)
46 EVA ss5847490315 Oct 16, 2022 (156)
47 EVA ss5847827566 Oct 16, 2022 (156)
48 EVA ss5852145308 Oct 16, 2022 (156)
49 EVA ss5874869047 Oct 16, 2022 (156)
50 EVA ss5953123456 Oct 16, 2022 (156)
51 EVA ss5979534070 Oct 16, 2022 (156)
52 1000Genomes NC_000018.9 - 71928403 Oct 12, 2018 (152)
53 1000Genomes_30x NC_000018.10 - 74261168 Oct 16, 2022 (156)
54 The Avon Longitudinal Study of Parents and Children NC_000018.9 - 71928403 Oct 12, 2018 (152)
55 Genetic variation in the Estonian population NC_000018.9 - 71928403 Oct 12, 2018 (152)
56 gnomAD - Genomes NC_000018.10 - 74261168 Apr 26, 2021 (155)
57 Genome of the Netherlands Release 5 NC_000018.9 - 71928403 Apr 27, 2020 (154)
58 KOREAN population from KRGDB NC_000018.9 - 71928403 Apr 27, 2020 (154)
59 Korean Genome Project NC_000018.10 - 74261168 Apr 27, 2020 (154)
60 Northern Sweden NC_000018.9 - 71928403 Jul 13, 2019 (153)
61 The PAGE Study NC_000018.10 - 74261168 Jul 13, 2019 (153)
62 Qatari NC_000018.9 - 71928403 Apr 27, 2020 (154)
63 SGDP_PRJ NC_000018.9 - 71928403 Apr 27, 2020 (154)
64 8.3KJPN NC_000018.9 - 71928403 Apr 26, 2021 (155)
65 14KJPN NC_000018.10 - 74261168 Oct 16, 2022 (156)
66 TopMed NC_000018.10 - 74261168 Apr 26, 2021 (155)
67 UK 10K study - Twins NC_000018.9 - 71928403 Oct 12, 2018 (152)
68 ALFA NC_000018.10 - 74261168 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
ss114649535, ss170317595, ss203500349, ss1698004484 NC_000018.8:70079382:G:A NC_000018.10:74261167:G:A (self)
75158539, 41662512, 29439220, 18562662, 44511637, 16008772, 19450655, 39447719, 84005681, 41662512, ss227971093, ss534930542, ss565765622, ss661609505, ss993939913, ss1081661754, ss1361800857, ss1637296742, ss1680290775, ss1809142423, ss1937408733, ss1959819273, ss2958854931, ss2985761301, ss3016845126, ss3021859667, ss3627854705, ss3652283063, ss3683700972, ss3742723907, ss3755635725, ss3887430739, ss3937334243, ss5226036374, ss5237590549, ss5432665424, ss5624419642, ss5661690520, ss5827818544, ss5847490315, ss5847827566, ss5953123456, ss5979534070 NC_000018.9:71928402:G:A NC_000018.10:74261167:G:A (self)
98692622, 530094709, 36894449, 1205299, 117908954, 279020077, 8271597503, ss2223176803, ss3702048120, ss3725691733, ss3771983830, ss3820893977, ss3980516448, ss5063474414, ss5305972858, ss5498680046, ss5611166687, ss5784071850, ss5817274036, ss5852145308, ss5874869047 NC_000018.10:74261167:G:A NC_000018.10:74261167:G: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 rs73482406

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