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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.

rs9459805

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:166922663 (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=0.285821 (75654/264690, TOPMED)
G=0.169254 (34710/205076, GENOGRAPHIC)
G=0.279421 (39143/140086, GnomAD) (+ 23 more)
G=0.22451 (9579/42666, ALFA)
G=0.09573 (2705/28258, 14KJPN)
G=0.09749 (1634/16760, 8.3KJPN)
G=0.2933 (1878/6404, 1000G_30x)
G=0.2849 (1427/5008, 1000G)
G=0.1176 (527/4480, Estonian)
G=0.1531 (590/3854, ALSPAC)
G=0.1472 (546/3708, TWINSUK)
G=0.0705 (206/2922, KOREAN)
G=0.2195 (457/2082, HGDP_Stanford)
G=0.3388 (641/1892, HapMap)
G=0.0633 (116/1832, Korea1K)
G=0.137 (137/998, GoNL)
G=0.096 (75/780, PRJEB37584)
G=0.131 (82/626, Chileans)
G=0.143 (86/600, NorthernSweden)
G=0.278 (60/216, Qatari)
A=0.316 (67/212, SGDP_PRJ)
G=0.142 (30/212, Vietnamese)
G=0.10 (6/62, Ancient Sardinia)
G=0.28 (11/40, GENOME_DK)
A=0.5 (3/6, Siberian)
G=0.5 (3/6, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RNASET2 : 3 Prime UTR 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 42666 A=0.77549 G=0.22451
European Sub 26634 A=0.84411 G=0.15589
African Sub 6270 A=0.4309 G=0.5691
African Others Sub 214 A=0.327 G=0.673
African American Sub 6056 A=0.4346 G=0.5654
Asian Sub 184 A=0.891 G=0.109
East Asian Sub 122 A=0.902 G=0.098
Other Asian Sub 62 A=0.87 G=0.13
Latin American 1 Sub 304 A=0.780 G=0.220
Latin American 2 Sub 2802 A=0.8765 G=0.1235
South Asian Sub 4878 A=0.7837 G=0.2163
Other Sub 1594 A=0.7673 G=0.2327


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=0.714179 G=0.285821
Genographic Project Global Study-wide 205076 A=0.830746 G=0.169254
gnomAD - Genomes Global Study-wide 140086 A=0.720579 G=0.279421
gnomAD - Genomes European Sub 75900 A=0.84816 G=0.15184
gnomAD - Genomes African Sub 41926 A=0.43081 G=0.56919
gnomAD - Genomes American Sub 13654 A=0.83931 G=0.16069
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.7852 G=0.2148
gnomAD - Genomes East Asian Sub 3130 A=0.9013 G=0.0987
gnomAD - Genomes Other Sub 2152 A=0.7505 G=0.2495
Allele Frequency Aggregator Total Global 42666 A=0.77549 G=0.22451
Allele Frequency Aggregator European Sub 26634 A=0.84411 G=0.15589
Allele Frequency Aggregator African Sub 6270 A=0.4309 G=0.5691
Allele Frequency Aggregator South Asian Sub 4878 A=0.7837 G=0.2163
Allele Frequency Aggregator Latin American 2 Sub 2802 A=0.8765 G=0.1235
Allele Frequency Aggregator Other Sub 1594 A=0.7673 G=0.2327
Allele Frequency Aggregator Latin American 1 Sub 304 A=0.780 G=0.220
Allele Frequency Aggregator Asian Sub 184 A=0.891 G=0.109
14KJPN JAPANESE Study-wide 28258 A=0.90427 G=0.09573
8.3KJPN JAPANESE Study-wide 16760 A=0.90251 G=0.09749
1000Genomes_30x Global Study-wide 6404 A=0.7067 G=0.2933
1000Genomes_30x African Sub 1786 A=0.3494 G=0.6506
1000Genomes_30x Europe Sub 1266 A=0.8412 G=0.1588
1000Genomes_30x South Asian Sub 1202 A=0.7962 G=0.2038
1000Genomes_30x East Asian Sub 1170 A=0.8974 G=0.1026
1000Genomes_30x American Sub 980 A=0.847 G=0.153
1000Genomes Global Study-wide 5008 A=0.7151 G=0.2849
1000Genomes African Sub 1322 A=0.3540 G=0.6460
1000Genomes East Asian Sub 1008 A=0.8988 G=0.1012
1000Genomes Europe Sub 1006 A=0.8370 G=0.1630
1000Genomes South Asian Sub 978 A=0.798 G=0.202
1000Genomes American Sub 694 A=0.843 G=0.157
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.8824 G=0.1176
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.8469 G=0.1531
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.8528 G=0.1472
KOREAN population from KRGDB KOREAN Study-wide 2922 A=0.9295 G=0.0705
HGDP-CEPH-db Supplement 1 Global Study-wide 2082 A=0.7805 G=0.2195
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.932 G=0.068
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.816 G=0.184
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.751 G=0.249
HGDP-CEPH-db Supplement 1 Europe Sub 318 A=0.868 G=0.132
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.248 G=0.752
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.991 G=0.009
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.50 G=0.50
HapMap Global Study-wide 1892 A=0.6612 G=0.3388
HapMap American Sub 770 A=0.813 G=0.187
HapMap African Sub 692 A=0.361 G=0.639
HapMap Asian Sub 254 A=0.925 G=0.075
HapMap Europe Sub 176 A=0.795 G=0.205
Korean Genome Project KOREAN Study-wide 1832 A=0.9367 G=0.0633
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.863 G=0.137
CNV burdens in cranial meningiomas Global Study-wide 780 A=0.904 G=0.096
CNV burdens in cranial meningiomas CRM Sub 780 A=0.904 G=0.096
Chileans Chilean Study-wide 626 A=0.869 G=0.131
Northern Sweden ACPOP Study-wide 600 A=0.857 G=0.143
Qatari Global Study-wide 216 A=0.722 G=0.278
SGDP_PRJ Global Study-wide 212 A=0.316 G=0.684
A Vietnamese Genetic Variation Database Global Study-wide 212 A=0.858 G=0.142
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 62 A=0.90 G=0.10
The Danish reference pan genome Danish Study-wide 40 A=0.72 G=0.28
Siberian Global Study-wide 6 A=0.5 G=0.5
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 6 NC_000006.12:g.166922663A>G
GRCh37.p13 chr 6 NC_000006.11:g.167336151A>G
RNASET2 RefSeqGene NG_016280.2:g.38927T>C
Gene: RNASET2, ribonuclease T2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RNASET2 transcript NM_003730.6:c.*6925= N/A 3 Prime UTR 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 6 NC_000006.12:g.166922663= NC_000006.12:g.166922663A>G
GRCh37.p13 chr 6 NC_000006.11:g.167336151= NC_000006.11:g.167336151A>G
RNASET2 RefSeqGene NG_016280.2:g.38927= NG_016280.2:g.38927T>C
RNASET2 transcript NM_003730.6:c.*6925= NM_003730.6:c.*6925T>C
RNASET2 transcript NM_003730.5:c.*6925= NM_003730.5:c.*6925T>C
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#.

87 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss13081064 Dec 05, 2003 (119)
2 SSAHASNP ss22421086 Apr 05, 2004 (121)
3 ABI ss44729661 Mar 14, 2006 (126)
4 ILLUMINA ss67919631 Dec 01, 2006 (127)
5 ILLUMINA ss68043973 Dec 01, 2006 (127)
6 ILLUMINA ss68303973 Dec 12, 2006 (127)
7 PERLEGEN ss69000912 May 17, 2007 (127)
8 ILLUMINA ss71608624 May 17, 2007 (127)
9 AFFY ss74843228 Aug 16, 2007 (128)
10 ILLUMINA ss75115775 Dec 07, 2007 (129)
11 AFFY ss76755446 Dec 07, 2007 (129)
12 HGSV ss78663318 Dec 07, 2007 (129)
13 HGSV ss80524615 Dec 16, 2007 (130)
14 KRIBB_YJKIM ss84821374 Dec 16, 2007 (130)
15 ILLUMINA ss98261135 May 26, 2008 (130)
16 1000GENOMES ss111317681 Jan 25, 2009 (130)
17 1000GENOMES ss113115167 Jan 25, 2009 (130)
18 ILLUMINA-UK ss116820292 Feb 14, 2009 (130)
19 ENSEMBL ss139672309 Dec 01, 2009 (131)
20 ILLUMINA ss154494938 Dec 01, 2009 (131)
21 ILLUMINA ss159668946 Dec 01, 2009 (131)
22 COMPLETE_GENOMICS ss162973772 Jul 04, 2010 (132)
23 COMPLETE_GENOMICS ss165239268 Jul 04, 2010 (132)
24 ILLUMINA ss174845743 Jul 04, 2010 (132)
25 BUSHMAN ss202760017 Jul 04, 2010 (132)
26 BCM-HGSC-SUB ss207512860 Jul 04, 2010 (132)
27 1000GENOMES ss222827769 Jul 14, 2010 (132)
28 1000GENOMES ss233791766 Jul 15, 2010 (132)
29 1000GENOMES ss240784410 Jul 15, 2010 (132)
30 PJP ss293787730 May 09, 2011 (134)
31 TISHKOFF ss559706790 Apr 25, 2013 (138)
32 SSMP ss654049706 Apr 25, 2013 (138)
33 EVA-GONL ss983786337 Aug 21, 2014 (142)
34 JMKIDD_LAB ss1074249836 Aug 21, 2014 (142)
35 1000GENOMES ss1323350739 Aug 21, 2014 (142)
36 DDI ss1430978093 Apr 01, 2015 (144)
37 EVA_GENOME_DK ss1582008100 Apr 01, 2015 (144)
38 EVA_DECODE ss1593361964 Apr 01, 2015 (144)
39 EVA_UK10K_ALSPAC ss1617280285 Apr 01, 2015 (144)
40 EVA_UK10K_TWINSUK ss1660274318 Apr 01, 2015 (144)
41 EVA_SVP ss1712921627 Apr 01, 2015 (144)
42 HAMMER_LAB ss1804797743 Sep 08, 2015 (146)
43 WEILL_CORNELL_DGM ss1927027365 Feb 12, 2016 (147)
44 GENOMED ss1970589717 Jul 19, 2016 (147)
45 JJLAB ss2024182460 Sep 14, 2016 (149)
46 USC_VALOUEV ss2152377388 Dec 20, 2016 (150)
47 HUMAN_LONGEVITY ss2290614018 Dec 20, 2016 (150)
48 SYSTEMSBIOZJU ss2626582193 Nov 08, 2017 (151)
49 GRF ss2708019428 Nov 08, 2017 (151)
50 GNOMAD ss2848143559 Nov 08, 2017 (151)
51 SWEGEN ss3000382423 Nov 08, 2017 (151)
52 BIOINF_KMB_FNS_UNIBA ss3025884693 Nov 08, 2017 (151)
53 CSHL ss3347356457 Nov 08, 2017 (151)
54 ILLUMINA ss3639338419 Oct 12, 2018 (152)
55 ILLUMINA ss3639964112 Oct 12, 2018 (152)
56 ILLUMINA ss3643610911 Oct 12, 2018 (152)
57 ILLUMINA ss3644008560 Oct 12, 2018 (152)
58 URBANLAB ss3648528602 Oct 12, 2018 (152)
59 EGCUT_WGS ss3668324179 Jul 13, 2019 (153)
60 EVA_DECODE ss3718809720 Jul 13, 2019 (153)
61 ACPOP ss3734223169 Jul 13, 2019 (153)
62 EVA ss3766005841 Jul 13, 2019 (153)
63 KHV_HUMAN_GENOMES ss3809170627 Jul 13, 2019 (153)
64 EVA ss3830334284 Apr 26, 2020 (154)
65 EVA ss3838653042 Apr 26, 2020 (154)
66 EVA ss3844103556 Apr 26, 2020 (154)
67 HGDP ss3847861358 Apr 26, 2020 (154)
68 SGDP_PRJ ss3866284202 Apr 26, 2020 (154)
69 KRGDB ss3913280525 Apr 26, 2020 (154)
70 KOGIC ss3960595831 Apr 26, 2020 (154)
71 EVA ss3984581198 Apr 26, 2021 (155)
72 EVA ss3985270169 Apr 26, 2021 (155)
73 TOPMED ss4730938956 Apr 26, 2021 (155)
74 TOMMO_GENOMICS ss5181134631 Apr 26, 2021 (155)
75 1000G_HIGH_COVERAGE ss5271297418 Oct 14, 2022 (156)
76 GENOGRAPHIC ss5314518075 Oct 14, 2022 (156)
77 EVA ss5370735405 Oct 14, 2022 (156)
78 HUGCELL_USP ss5468654822 Oct 14, 2022 (156)
79 1000G_HIGH_COVERAGE ss5558707442 Oct 14, 2022 (156)
80 SANFORD_IMAGENETICS ss5642037698 Oct 14, 2022 (156)
81 TOMMO_GENOMICS ss5720364272 Oct 14, 2022 (156)
82 YY_MCH ss5808195107 Oct 14, 2022 (156)
83 EVA ss5843362778 Oct 14, 2022 (156)
84 EVA ss5855698967 Oct 14, 2022 (156)
85 EVA ss5887046855 Oct 14, 2022 (156)
86 EVA ss5971184369 Oct 14, 2022 (156)
87 EVA ss5971184370 Oct 14, 2022 (156)
88 1000Genomes NC_000006.11 - 167336151 Oct 12, 2018 (152)
89 1000Genomes_30x NC_000006.12 - 166922663 Oct 14, 2022 (156)
90 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 167336151 Oct 12, 2018 (152)
91 Chileans NC_000006.11 - 167336151 Apr 26, 2020 (154)
92 Genetic variation in the Estonian population NC_000006.11 - 167336151 Oct 12, 2018 (152)
93 Genographic Project NC_000006.12 - 166922663 Oct 14, 2022 (156)
94 The Danish reference pan genome NC_000006.11 - 167336151 Apr 26, 2020 (154)
95 gnomAD - Genomes NC_000006.12 - 166922663 Apr 26, 2021 (155)
96 Genome of the Netherlands Release 5 NC_000006.11 - 167336151 Apr 26, 2020 (154)
97 HGDP-CEPH-db Supplement 1 NC_000006.10 - 167256141 Apr 26, 2020 (154)
98 HapMap NC_000006.12 - 166922663 Apr 26, 2020 (154)
99 KOREAN population from KRGDB NC_000006.11 - 167336151 Apr 26, 2020 (154)
100 Korean Genome Project NC_000006.12 - 166922663 Apr 26, 2020 (154)
101 Northern Sweden NC_000006.11 - 167336151 Jul 13, 2019 (153)
102 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000006.11 - 167336151 Apr 26, 2021 (155)
103 CNV burdens in cranial meningiomas NC_000006.11 - 167336151 Apr 26, 2021 (155)
104 Qatari NC_000006.11 - 167336151 Apr 26, 2020 (154)
105 SGDP_PRJ NC_000006.11 - 167336151 Apr 26, 2020 (154)
106 Siberian NC_000006.11 - 167336151 Apr 26, 2020 (154)
107 8.3KJPN NC_000006.11 - 167336151 Apr 26, 2021 (155)
108 14KJPN NC_000006.12 - 166922663 Oct 14, 2022 (156)
109 TopMed NC_000006.12 - 166922663 Apr 26, 2021 (155)
110 UK 10K study - Twins NC_000006.11 - 167336151 Oct 12, 2018 (152)
111 A Vietnamese Genetic Variation Database NC_000006.11 - 167336151 Jul 13, 2019 (153)
112 ALFA NC_000006.12 - 166922663 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)
rs52801111 Sep 21, 2007 (128)
rs61386542 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78663318, ss80524615, ss3639338419, ss3639964112, ss3644008560 NC_000006.9:167306561:A:G NC_000006.12:166922662:A:G (self)
539250, ss111317681, ss113115167, ss116820292, ss162973772, ss165239268, ss202760017, ss207512860, ss293787730, ss1593361964, ss1712921627, ss3643610911, ss3847861358 NC_000006.10:167256140:A:G NC_000006.12:166922662:A:G (self)
35260621, 19669429, 398280, 14062427, 8173039, 8754138, 20457919, 7508034, 496096, 130616, 9069295, 18301182, 4893742, 39103938, 19669429, 4378751, ss222827769, ss233791766, ss240784410, ss559706790, ss654049706, ss983786337, ss1074249836, ss1323350739, ss1430978093, ss1582008100, ss1617280285, ss1660274318, ss1804797743, ss1927027365, ss1970589717, ss2024182460, ss2152377388, ss2626582193, ss2708019428, ss2848143559, ss3000382423, ss3347356457, ss3668324179, ss3734223169, ss3766005841, ss3830334284, ss3838653042, ss3866284202, ss3913280525, ss3984581198, ss3985270169, ss5181134631, ss5370735405, ss5642037698, ss5843362778, ss5971184369, ss5971184370 NC_000006.11:167336150:A:G NC_000006.12:166922662:A:G (self)
46233377, 88388, 248817697, 3310016, 16973832, 54201376, 568316514, 11518390230, ss2290614018, ss3025884693, ss3648528602, ss3718809720, ss3809170627, ss3844103556, ss3960595831, ss4730938956, ss5271297418, ss5314518075, ss5468654822, ss5558707442, ss5720364272, ss5808195107, ss5855698967, ss5887046855 NC_000006.12:166922662:A:G NC_000006.12:166922662:A:G (self)
ss13081064, ss22421086 NT_007422.12:9623491:A:G NC_000006.12:166922662:A:G (self)
ss44729661, ss67919631, ss68043973, ss68303973, ss69000912, ss71608624, ss74843228, ss75115775, ss76755446, ss84821374, ss98261135, ss139672309, ss154494938, ss159668946, ss174845743 NT_025741.15:71505607:A:G NC_000006.12:166922662: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 rs9459805

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