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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.

rs870

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr16:79203690 (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
G>A / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.364290 (96424/264690, TOPMED)
A=0.44076 (24767/56192, ALFA)
A=0.10835 (1816/16760, 8.3KJPN) (+ 15 more)
A=0.2412 (1208/5008, 1000G)
G=0.4879 (2186/4480, Estonian)
G=0.4447 (1714/3854, ALSPAC)
G=0.4391 (1628/3708, TWINSUK)
A=0.0975 (285/2922, KOREAN)
A=0.2072 (392/1892, HapMap)
A=0.0993 (182/1832, Korea1K)
G=0.423 (422/998, GoNL)
A=0.288 (180/626, Chileans)
G=0.422 (253/600, NorthernSweden)
A=0.301 (65/216, Qatari)
A=0.093 (20/214, Vietnamese)
G=0.385 (74/192, SGDP_PRJ)
A=0.40 (16/40, GENOME_DK)
G=0.33 (10/30, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MAF : Non Coding Transcript Variant
WWOX : Intron 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 16 NC_000016.10:g.79203690G>A
GRCh38.p13 chr 16 NC_000016.10:g.79203690G>T
GRCh37.p13 chr 16 NC_000016.9:g.79237587G>A
GRCh37.p13 chr 16 NC_000016.9:g.79237587G>T
WWOX RefSeqGene NG_011698.1:g.1109037G>A
WWOX RefSeqGene NG_011698.1:g.1109037G>T
Gene: WWOX, WW domain containing oxidoreductase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
WWOX transcript variant 4 NM_001291997.2:c.718-7918…

NM_001291997.2:c.718-7918G>A

N/A Intron Variant
WWOX transcript variant 1 NM_016373.4:c.1057-7918G>A N/A Intron Variant
WWOX transcript variant 2 NM_130791.5:c. N/A Genic Downstream Transcript Variant
WWOX transcript variant 3 NR_120435.2:n. N/A Genic Downstream Transcript Variant
WWOX transcript variant 5 NR_120436.3:n. N/A Genic Downstream Transcript Variant
Gene: MAF, MAF bZIP transcription factor (minus strand)
Molecule type Change Amino acid[Codon] SO Term
MAF transcript variant 2 NM_001031804.3:c. N/A Genic Downstream Transcript Variant
MAF transcript variant 1 NM_005360.5:c. N/A Genic Downstream Transcript Variant
MAF transcript variant X1 XM_024450279.1:c.*9240= N/A 3 Prime UTR Variant
MAF transcript variant X6 XM_017023233.2:c. N/A Genic Downstream Transcript Variant
MAF transcript variant X7 XM_017023234.2:c. N/A Genic Downstream Transcript Variant
MAF transcript variant X8 XM_017023235.2:c. N/A Genic Downstream Transcript Variant
MAF transcript variant X2 XR_002957802.1:n.11508C>T N/A Non Coding Transcript Variant
MAF transcript variant X2 XR_002957802.1:n.11508C>A N/A Non Coding Transcript Variant
MAF transcript variant X3 XR_002957803.1:n.11894C>T N/A Non Coding Transcript Variant
MAF transcript variant X3 XR_002957803.1:n.11894C>A N/A Non Coding Transcript Variant
MAF transcript variant X4 XR_001751902.2:n.10891C>T N/A Non Coding Transcript Variant
MAF transcript variant X4 XR_001751902.2:n.10891C>A N/A Non Coding Transcript Variant
MAF transcript variant X5 XR_002957804.1:n.10819C>T N/A Non Coding Transcript Variant
MAF transcript variant X5 XR_002957804.1:n.10819C>A N/A Non Coding 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

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 56192 G=0.55924 A=0.44076, T=0.00000
European Sub 38266 G=0.47653 A=0.52347, T=0.00000
African Sub 5004 G=0.8965 A=0.1035, T=0.0000
African Others Sub 178 G=0.961 A=0.039, T=0.000
African American Sub 4826 G=0.8941 A=0.1059, T=0.0000
Asian Sub 480 G=0.917 A=0.083, T=0.000
East Asian Sub 384 G=0.909 A=0.091, T=0.000
Other Asian Sub 96 G=0.95 A=0.05, T=0.00
Latin American 1 Sub 670 G=0.613 A=0.387, T=0.000
Latin American 2 Sub 6872 G=0.7625 A=0.2375, T=0.0000
South Asian Sub 134 G=0.731 A=0.269, T=0.000
Other Sub 4766 G=0.5277 A=0.4723, 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 G=0.635710 A=0.364290
8.3KJPN JAPANESE Study-wide 16760 G=0.89165 A=0.10835
1000Genomes Global Study-wide 5008 G=0.7588 A=0.2412
1000Genomes African Sub 1322 G=0.9130 A=0.0870
1000Genomes East Asian Sub 1008 G=0.9196 A=0.0804
1000Genomes Europe Sub 1006 G=0.4831 A=0.5169
1000Genomes South Asian Sub 978 G=0.706 A=0.294
1000Genomes American Sub 694 G=0.706 A=0.294
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.4879 A=0.5121
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.4447 A=0.5553
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.4391 A=0.5609
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9025 A=0.0975
HapMap Global Study-wide 1892 G=0.7928 A=0.2072
HapMap American Sub 770 G=0.671 A=0.329
HapMap African Sub 692 G=0.948 A=0.052
HapMap Asian Sub 254 G=0.917 A=0.083
HapMap Europe Sub 176 G=0.534 A=0.466
Korean Genome Project KOREAN Study-wide 1832 G=0.9007 A=0.0993
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.423 A=0.577
Chileans Chilean Study-wide 626 G=0.712 A=0.288
Northern Sweden ACPOP Study-wide 600 G=0.422 A=0.578
Qatari Global Study-wide 216 G=0.699 A=0.301
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.907 A=0.093
SGDP_PRJ Global Study-wide 192 G=0.385 A=0.615
The Danish reference pan genome Danish Study-wide 40 G=0.60 A=0.40
Siberian Global Study-wide 30 G=0.33 A=0.67
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.p13 chr 16 NC_000016.10:g.79203690= NC_000016.10:g.79203690G>A NC_000016.10:g.79203690G>T
GRCh37.p13 chr 16 NC_000016.9:g.79237587= NC_000016.9:g.79237587G>A NC_000016.9:g.79237587G>T
WWOX RefSeqGene NG_011698.1:g.1109037= NG_011698.1:g.1109037G>A NG_011698.1:g.1109037G>T
MAF transcript variant X4 XR_001751902.2:n.10891= XR_001751902.2:n.10891C>T XR_001751902.2:n.10891C>A
MAF transcript variant X1 XM_024450279.1:c.*9240= XM_024450279.1:c.*9240C>T XM_024450279.1:c.*9240C>A
MAF transcript variant X3 XR_002957803.1:n.11894= XR_002957803.1:n.11894C>T XR_002957803.1:n.11894C>A
MAF transcript variant X2 XR_002957802.1:n.11508= XR_002957802.1:n.11508C>T XR_002957802.1:n.11508C>A
MAF transcript variant X5 XR_002957804.1:n.10819= XR_002957804.1:n.10819C>T XR_002957804.1:n.10819C>A
WWOX transcript variant 4 NM_001291997.2:c.718-7918= NM_001291997.2:c.718-7918G>A NM_001291997.2:c.718-7918G>T
WWOX transcript variant 1 NM_016373.2:c.1057-7918= NM_016373.2:c.1057-7918G>A NM_016373.2:c.1057-7918G>T
WWOX transcript variant 1 NM_016373.4:c.1057-7918= NM_016373.4:c.1057-7918G>A NM_016373.4:c.1057-7918G>T
WWOX transcript variant X1 XM_005255980.1:c.410-7918= XM_005255980.1:c.410-7918G>A XM_005255980.1:c.410-7918G>T
WWOX transcript variant X2 XM_005255981.1:c.718-7918= XM_005255981.1:c.718-7918G>A XM_005255981.1:c.718-7918G>T
WWOX transcript variant X3 XM_005255982.1:c.517-7918= XM_005255982.1:c.517-7918G>A XM_005255982.1:c.517-7918G>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#.

75 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 WIAF ss892 Sep 19, 2000 (36)
2 YUSUKE ss3205976 Sep 28, 2001 (100)
3 PERLEGEN ss24684050 Sep 20, 2004 (123)
4 SEQUENOM ss24809912 Sep 20, 2004 (123)
5 ABI ss43819645 Mar 14, 2006 (126)
6 AFFY ss76471523 Dec 07, 2007 (129)
7 BCMHGSC_JDW ss90459729 Mar 24, 2008 (129)
8 HUMANGENOME_JCVI ss96698964 Feb 06, 2009 (130)
9 KRIBB_YJKIM ss104807691 Feb 06, 2009 (130)
10 1000GENOMES ss109476951 Jan 24, 2009 (130)
11 ENSEMBL ss136670155 Dec 01, 2009 (131)
12 ENSEMBL ss136827501 Dec 01, 2009 (131)
13 ILLUMINA ss160960011 Dec 01, 2009 (131)
14 COMPLETE_GENOMICS ss168525864 Jul 04, 2010 (132)
15 COMPLETE_GENOMICS ss171541691 Jul 04, 2010 (132)
16 BCM-HGSC-SUB ss207577771 Jul 04, 2010 (132)
17 1000GENOMES ss227348960 Jul 14, 2010 (132)
18 1000GENOMES ss237101940 Jul 15, 2010 (132)
19 1000GENOMES ss243427001 Jul 15, 2010 (132)
20 BL ss255829767 May 09, 2011 (134)
21 GMI ss282611147 May 04, 2012 (137)
22 PJP ss291881488 May 09, 2011 (134)
23 ILLUMINA ss479400411 May 04, 2012 (137)
24 ILLUMINA ss482808833 Sep 08, 2015 (146)
25 ILLUMINA ss483558495 May 04, 2012 (137)
26 ILLUMINA ss532956082 Sep 08, 2015 (146)
27 TISHKOFF ss565029626 Apr 25, 2013 (138)
28 SSMP ss660809190 Apr 25, 2013 (138)
29 ILLUMINA ss779579657 Sep 08, 2015 (146)
30 ILLUMINA ss780972077 Sep 08, 2015 (146)
31 ILLUMINA ss835051189 Sep 08, 2015 (146)
32 EVA-GONL ss992706383 Aug 21, 2014 (142)
33 JMKIDD_LAB ss1080777898 Aug 21, 2014 (142)
34 1000GENOMES ss1357079448 Aug 21, 2014 (142)
35 DDI ss1427906698 Apr 01, 2015 (144)
36 EVA_GENOME_DK ss1577999497 Apr 01, 2015 (144)
37 EVA_UK10K_ALSPAC ss1634868005 Apr 01, 2015 (144)
38 EVA_UK10K_TWINSUK ss1677862038 Apr 01, 2015 (144)
39 EVA_DECODE ss1696745397 Apr 01, 2015 (144)
40 EVA_SVP ss1713554075 Apr 01, 2015 (144)
41 WEILL_CORNELL_DGM ss1936137709 Feb 12, 2016 (147)
42 GENOMED ss1968306899 Jul 19, 2016 (147)
43 JJLAB ss2028856154 Sep 14, 2016 (149)
44 USC_VALOUEV ss2157296699 Dec 20, 2016 (150)
45 HUMAN_LONGEVITY ss2213879614 Dec 20, 2016 (150)
46 TOPMED ss2378646878 Dec 20, 2016 (150)
47 ILLUMINA ss2633344200 Nov 08, 2017 (151)
48 GRF ss2701829599 Nov 08, 2017 (151)
49 GNOMAD ss2945414928 Nov 08, 2017 (151)
50 SWEGEN ss3014854496 Nov 08, 2017 (151)
51 BIOINF_KMB_FNS_UNIBA ss3028244928 Nov 08, 2017 (151)
52 TOPMED ss3252082968 Nov 08, 2017 (151)
53 TOPMED ss3252082969 Nov 08, 2017 (151)
54 CSHL ss3351546241 Nov 08, 2017 (151)
55 ILLUMINA ss3627571488 Oct 12, 2018 (152)
56 ILLUMINA ss3631328933 Oct 12, 2018 (152)
57 ILLUMINA ss3636343327 Oct 12, 2018 (152)
58 ILLUMINA ss3641967616 Oct 12, 2018 (152)
59 URBANLAB ss3650552824 Oct 12, 2018 (152)
60 EGCUT_WGS ss3681833328 Jul 13, 2019 (153)
61 EVA_DECODE ss3699673560 Jul 13, 2019 (153)
62 ACPOP ss3741688150 Jul 13, 2019 (153)
63 EVA ss3754188623 Jul 13, 2019 (153)
64 PACBIO ss3788093928 Jul 13, 2019 (153)
65 PACBIO ss3793067288 Jul 13, 2019 (153)
66 PACBIO ss3797952417 Jul 13, 2019 (153)
67 KHV_HUMAN_GENOMES ss3819467534 Jul 13, 2019 (153)
68 EVA ss3834671396 Apr 27, 2020 (154)
69 EVA ss3840941608 Apr 27, 2020 (154)
70 EVA ss3846434525 Apr 27, 2020 (154)
71 SGDP_PRJ ss3884877388 Apr 27, 2020 (154)
72 KRGDB ss3934420976 Apr 27, 2020 (154)
73 KOGIC ss3977995723 Apr 27, 2020 (154)
74 TOPMED ss5022750226 Apr 27, 2021 (155)
75 TOMMO_GENOMICS ss5220542635 Apr 27, 2021 (155)
76 1000Genomes NC_000016.9 - 79237587 Oct 12, 2018 (152)
77 The Avon Longitudinal Study of Parents and Children NC_000016.9 - 79237587 Oct 12, 2018 (152)
78 Chileans NC_000016.9 - 79237587 Apr 27, 2020 (154)
79 Genetic variation in the Estonian population NC_000016.9 - 79237587 Oct 12, 2018 (152)
80 The Danish reference pan genome NC_000016.9 - 79237587 Apr 27, 2020 (154)
81 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 495733692 (NC_000016.10:79203689:G:A 55243/139958)
Row 495733693 (NC_000016.10:79203689:G:T 10/140030)

- Apr 27, 2021 (155)
82 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 495733692 (NC_000016.10:79203689:G:A 55243/139958)
Row 495733693 (NC_000016.10:79203689:G:T 10/140030)

- Apr 27, 2021 (155)
83 Genome of the Netherlands Release 5 NC_000016.9 - 79237587 Apr 27, 2020 (154)
84 HapMap NC_000016.10 - 79203690 Apr 27, 2020 (154)
85 KOREAN population from KRGDB NC_000016.9 - 79237587 Apr 27, 2020 (154)
86 Korean Genome Project NC_000016.10 - 79203690 Apr 27, 2020 (154)
87 Northern Sweden NC_000016.9 - 79237587 Jul 13, 2019 (153)
88 Qatari NC_000016.9 - 79237587 Apr 27, 2020 (154)
89 SGDP_PRJ NC_000016.9 - 79237587 Apr 27, 2020 (154)
90 Siberian NC_000016.9 - 79237587 Apr 27, 2020 (154)
91 8.3KJPN NC_000016.9 - 79237587 Apr 27, 2021 (155)
92 TopMed NC_000016.10 - 79203690 Apr 27, 2021 (155)
93 UK 10K study - Twins NC_000016.9 - 79237587 Oct 12, 2018 (152)
94 A Vietnamese Genetic Variation Database NC_000016.9 - 79237587 Jul 13, 2019 (153)
95 ALFA NC_000016.10 - 79203690 Apr 27, 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)
rs17642461 Oct 08, 2004 (123)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss90459729, ss109476951, ss168525864, ss171541691, ss207577771, ss255829767, ss282611147, ss291881488, ss483558495, ss1696745397, ss1713554075 NC_000016.8:77795087:G:A NC_000016.10:79203689:G:A (self)
70269551, 38985815, 172989, 27571576, 4208390, 17379858, 41598370, 14973015, 18179631, 36894368, 9813053, 78511942, 38985815, 8640759, ss227348960, ss237101940, ss243427001, ss479400411, ss482808833, ss532956082, ss565029626, ss660809190, ss779579657, ss780972077, ss835051189, ss992706383, ss1080777898, ss1357079448, ss1427906698, ss1577999497, ss1634868005, ss1677862038, ss1936137709, ss1968306899, ss2028856154, ss2157296699, ss2378646878, ss2633344200, ss2701829599, ss2945414928, ss3014854496, ss3351546241, ss3627571488, ss3631328933, ss3636343327, ss3641967616, ss3681833328, ss3741688150, ss3754188623, ss3788093928, ss3793067288, ss3797952417, ss3834671396, ss3840941608, ss3884877388, ss3934420976, ss5220542635 NC_000016.9:79237586:G:A NC_000016.10:79203689:G:A (self)
1421154, 34373724, 148739936, 238295887, 4208393170, ss2213879614, ss3028244928, ss3252082968, ss3650552824, ss3699673560, ss3819467534, ss3846434525, ss3977995723, ss5022750226 NC_000016.10:79203689:G:A NC_000016.10:79203689:G:A (self)
ss892, ss3205976, ss24684050, ss24809912, ss43819645, ss76471523, ss96698964, ss104807691, ss136670155, ss136827501, ss160960011 NT_010498.15:32851785:G:A NC_000016.10:79203689:G:A (self)
ss2945414928 NC_000016.9:79237586:G:T NC_000016.10:79203689:G:T (self)
4208393170, ss3252082969 NC_000016.10:79203689:G:T NC_000016.10:79203689: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 rs870

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